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UniProtKB - Q12756 (KIF1A_HUMAN)

UniProt

Q12756 - KIF1A_HUMAN

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Protein

Kinesin-like protein KIF1A

Gene

KIF1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Motor for anterograde axonal transport of synaptic vesicle precursors.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi97 – 1048ATPPROSITE-ProRule annotation

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent microtubule motor activity, plus-end-directed Source: GO_Central
  • motor activity Source: ProtInc

GO - Biological processi

  • anterograde axon cargo transport Source: ProtInc
  • vesicle-mediated transport Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Kinesin-like protein KIF1A
Alternative name(s):
Axonal transporter of synaptic vesicles
Microtubule-based motor KIF1A
Unc-104- and KIF1A-related protein
Short name:
hUnc-104
Gene namesi
Name:KIF1A
Synonyms:ATSV, C2orf20
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:888. KIF1A.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 30, autosomal recessive (SPG30)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs.
See also OMIM:610357
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti255 – 2551A → V in SPG30. 1 Publication
VAR_066650
Neuropathy, hereditary sensory, 2C (HSN2C)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs.
See also OMIM:614213
Mental retardation, autosomal dominant 9 (MRD9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:614255
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti99 – 991T → M in MRD9; affects the subcellular location of the protein; there is a reduced distal localization and increased accumulation throughout the cell body and proximal neurites in cells transfected with a mutant protein. 1 Publication
VAR_066649

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Mental retardation, Neurodegeneration, Neuropathy

Organism-specific databases

MIMi610357. phenotype.
614213. phenotype.
614255. phenotype.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
101010. Autosomal recessive spastic paraplegia type 30.
970. Hereditary sensory and autonomic neuropathy type 2.
PharmGKBiPA25180.

Polymorphism and mutation databases

BioMutaiKIF1A.
DMDMi119364606.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 16901690Kinesin-like protein KIF1APRO_0000125405Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei416 – 4161PhosphoserineCombined sources
Modified residuei418 – 4181PhosphoserineCombined sources
Modified residuei419 – 4191PhosphoserineCombined sources
Modified residuei937 – 9371PhosphoserineCombined sources
Modified residuei1310 – 13101PhosphoserineCombined sources
Modified residuei1548 – 15481PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ12756.
PaxDbiQ12756.
PRIDEiQ12756.

PTM databases

PhosphoSiteiQ12756.

Expressioni

Tissue specificityi

Expressed in neurons.1 Publication

Gene expression databases

BgeeiQ12756.
ExpressionAtlasiQ12756. baseline and differential.
GenevisibleiQ12756. HS.

Organism-specific databases

HPAiHPA005442.

Interactioni

Subunit structurei

Monomer. Interacts with PPFIA1 and PPFIA4 (By similarity).By similarity

Protein-protein interaction databases

BioGridi107029. 40 interactions.
DIPiDIP-42405N.
IntActiQ12756. 2 interactions.
MINTiMINT-1173769.
STRINGi9606.ENSP00000322791.

Structurei

Secondary structure

1
1690
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi458 – 47114Combined sources
Beta strandi474 – 4763Combined sources
Beta strandi480 – 4856Combined sources
Beta strandi489 – 4913Combined sources
Beta strandi493 – 4964Combined sources
Beta strandi507 – 5104Combined sources
Beta strandi513 – 5197Combined sources
Beta strandi521 – 5255Combined sources
Beta strandi528 – 5303Combined sources
Beta strandi538 – 5469Combined sources
Beta strandi550 – 5523Combined sources
Beta strandi554 – 5596Combined sources
Beta strandi565 – 5673Combined sources
Beta strandi583 – 5864Combined sources
Turni587 – 5893Combined sources
Beta strandi590 – 5956Combined sources
Helixi597 – 6048Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4EGXX-ray2.51A/B/C/D430-607[»]
4EJQX-ray1.89A/B/C/D/E/F/G/H458-607[»]
4UXOelectron microscopy6.30C1-361[»]
4UXPelectron microscopy6.30C1-361[»]
4UXRelectron microscopy7.00C1-361[»]
4UXSelectron microscopy7.00C1-361[»]
ProteinModelPortaliQ12756.
SMRiQ12756. Positions 4-353, 430-605.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini5 – 354350Kinesin motorPROSITE-ProRule annotationAdd
BLAST
Domaini516 – 57257FHAPROSITE-ProRule annotationAdd
BLAST
Domaini1575 – 167399PHPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili366 – 38318Sequence AnalysisAdd
BLAST
Coiled coili429 – 46234Sequence AnalysisAdd
BLAST
Coiled coili622 – 68160Sequence AnalysisAdd
BLAST
Coiled coili801 – 82222Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.PROSITE-ProRule annotation
Contains 1 FHA domain.PROSITE-ProRule annotation
Contains 1 kinesin motor domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiCOG5059.
GeneTreeiENSGT00770000120451.
HOGENOMiHOG000165968.
HOVERGENiHBG052251.
InParanoidiQ12756.
KOiK10392.
OMAiHCVFRSD.
OrthoDBiEOG77Q4VS.
PhylomeDBiQ12756.
TreeFamiTF105221.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
2.60.200.20. 1 hit.
3.40.850.10. 1 hit.
InterProiIPR000253. FHA_dom.
IPR022164. Kinesin-like.
IPR027640. Kinesin-like_fam.
IPR022140. Kinesin-like_KIF1-typ.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
IPR011993. PH/PTB_dom.
IPR001849. PH_domain.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PANTHERiPTHR24115. PTHR24115. 1 hit.
PfamiPF12473. DUF3694. 1 hit.
PF00498. FHA. 1 hit.
PF12423. KIF1B. 1 hit.
PF00225. Kinesin. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
PRINTSiPR00380. KINESINHEAVY.
SMARTiSM00240. FHA. 1 hit.
SM00129. KISc. 1 hit.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50006. FHA_DOMAIN. 1 hit.
PS00411. KINESIN_MOTOR_1. 1 hit.
PS50067. KINESIN_MOTOR_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q12756-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF 
        60         70         80         90        100
SFDYSYWSHT SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG 
       110        120        130        140        150
AGKSYTMMGK QEKDQQGIIP QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY 
       160        170        180        190        200
CERVRDLLNP KNKGNLRVRE HPLLGPYVED LSKLAVTSYN DIQDLMDSGN 
       210        220        230        240        250
KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK VSKISLVDLA 
       260        270        280        290        300
GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK 
       310        320        330        340        350
TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR 
       360        370        380        390        400
AKQIRCNAVI NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDMTNALVG 
       410        420        430        440        450
MSPSSSLSAL SSRAASVSSL HERILFAPGS EEAIERLKET EKIIAELNET 
       460        470        480        490        500
WEEKLRRTEA IRMEREALLA EMGVAMREDG GTLGVFSPKK TPHLVNLNED 
       510        520        530        540        550
PLMSECLLYY IKDGITRVGR EDGERRQDIV LSGHFIKEEH CVFRSDSRGG 
       560        570        580        590        600
SEAVVTLEPC EGADTYVNGK KVTEPSILRS GNRIIMGKSH VFRFNHPEQA 
       610        620        630        640        650
RQERERTPCA ETPAEPVDWA FAQRELLEKQ GIDMKQEMEQ RLQELEDQYR 
       660        670        680        690        700
REREEATYLL EQQRLDYESK LEALQKQMDS RYYPEVNEEE EEPEDEVQWT 
       710        720        730        740        750
ERECELALWA FRKWKWYQFT SLRDLLWGNA IFLKEANAIS VELKKKVQFQ 
       760        770        780        790        800
FVLLTDTLYS PLPPDLLPPE AAKDRETRPF PRTIVAVEVQ DQKNGATHYW 
       810        820        830        840        850
TLEKLRQRLD LMREMYDRAA EVPSSVIEDC DNVVTGGDPF YDRFPWFRLV 
       860        870        880        890        900
GRAFVYLSNL LYPVPLVHRV AIVSEKGEVK GFLRVAVQAI SADEEAPDYG 
       910        920        930        940        950
SGVRQSGTAK ISFDDQHFEK FQSESCPVVG MSRSGTSQEE LRIVEGQGQG 
       960        970        980        990       1000
ADVGPSADEV NNNTCSAVPP EGLLLDSSEK AALDGPLDAA LDHLRLGNTF 
      1010       1020       1030       1040       1050
TFRVTVLQAS SISAEYADIF CQFNFIHRHD EAFSTEPLKN TGRGPPLGFY 
      1060       1070       1080       1090       1100
HVQNIAVEVT KSFIEYIKSQ PIVFEVFGHY QQHPFPPLCK DVLSPLRPSR 
      1110       1120       1130       1140       1150
RHFPRVMPLS KPVPATKLST LTRPCPGPCH CKYDLLVYFE ICELEANGDY 
      1160       1170       1180       1190       1200
IPAVVDHRGG MPCMGTFLLH QGIQRRITVT LLHETGSHIR WKEVRELVVG 
      1210       1220       1230       1240       1250
RIRNTPETDE SLIDPNILSL NILSSGYIHP AQDDRTFYQF EAAWDSSMHN 
      1260       1270       1280       1290       1300
SLLLNRVTPY REKIYMTLSA YIEMENCTQP AVVTKDFCMV FYSRDAKLPA 
      1310       1320       1330       1340       1350
SRSIRNLFGS GSLRASESNR VTGVYELSLC HVADAGSPGM QRRRRRVLDT 
      1360       1370       1380       1390       1400
SVAYVRGEEN LAGWRPRSDS LILDHQWELE KLSLLQEVEK TRHYLLLREK 
      1410       1420       1430       1440       1450
LETAQRPVPE ALSPAFSEDS ESHGSSSASS PLSAEGRPSP LEAPNERQRE 
      1460       1470       1480       1490       1500
LAVKCLRLLT HTFNREYTHS HVCVSASESK LSEMSVTLLR DPSMSPLGVA 
      1510       1520       1530       1540       1550
TLTPSSTCPS LVEGRYGATD LRTPQPCSRP ASPEPELLPE ADSKKLPSPA 
      1560       1570       1580       1590       1600
RATETDKEPQ RLLVPDIQEI RVSPIVSKKG YLHFLEPHTS GWARRFVVVR 
      1610       1620       1630       1640       1650
RPYAYMYNSD KDTVERFVLN LATAQVEYSE DQQAMLKTPN TFAVCTEHRG 
      1660       1670       1680       1690
ILLQAASDKD MHDWLYAFNP LLAGTIRSKL SRRRSAQMRV
Length:1,690
Mass (Da):191,064
Last modified:December 12, 2006 - v2
Checksum:iFB3CA33B7060AF60
GO
Isoform 2 (identifier: Q12756-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     394-394: M → TNTVPGGPKL
     848-848: R → RLVGSSAISG...PFYDRPPLFS
     1234-1234: D → DRVSLGNDT

Show »
Length:1,799
Mass (Da):202,902
Checksum:i2A9CDACAF2E1395B
GO
Isoform 3 (identifier: Q12756-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     394-394: M → TNTVPGGPKL
     848-848: R → RLVGSSAISG...PFYDRPPLFS

Note: No experimental confirmation available.
Show »
Length:1,791
Mass (Da):202,059
Checksum:i704ED93D10A615FE
GO

Sequence cautioni

The sequence AAB97363.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAE06111.1 differs from that shown.Probable cloning artifact leading to C-terminal exon with non-canonical splice junction.Curated
The sequence BAE06111.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti104 – 1041S → T in AAD02917 (Ref. 6) Curated
Sequence conflicti595 – 5951N → T in CAA62346 (PubMed:8661001).Curated
Sequence conflicti777 – 7771T → K in CAA62346 (PubMed:8661001).Curated
Sequence conflicti1030 – 10301D → E in AAA80352 (Ref. 8) Curated
Sequence conflicti1034 – 10341S → C in AAA80352 (Ref. 8) Curated
Sequence conflicti1108 – 11081P → L in BAG06726 (Ref. 2) Curated
Sequence conflicti1108 – 11081P → L in BAD92375 (Ref. 7) Curated
Sequence conflicti1225 – 12251S → A in CAA62346 (PubMed:8661001).Curated
Sequence conflicti1232 – 12321Q → H in CAA62346 (PubMed:8661001).Curated
Sequence conflicti1245 – 12451D → N in CAA62346 (PubMed:8661001).Curated
Sequence conflicti1257 – 12571V → I in CAA62346 (PubMed:8661001).Curated
Sequence conflicti1684 – 16841R → W in AAI11781 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti99 – 991T → M in MRD9; affects the subcellular location of the protein; there is a reduced distal localization and increased accumulation throughout the cell body and proximal neurites in cells transfected with a mutant protein. 1 Publication
VAR_066649
Natural varianti255 – 2551A → V in SPG30. 1 Publication
VAR_066650

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei394 – 3941M → TNTVPGGPKL in isoform 2 and isoform 3. 2 PublicationsVSP_021853
Alternative sequencei848 – 8481R → RLVGSSAISGCNSYPLLNTC MSERMAALTPSPTFSSPDSD ATEPAEEQSVGEEEEEEEEE EDEEEEDLEDDVFPEHALCD GRDPFYDRPPLFS in isoform 2 and isoform 3. 2 PublicationsVSP_021854
Alternative sequencei1234 – 12341D → DRVSLGNDT in isoform 2. 1 PublicationVSP_021855

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X90840 mRNA. Translation: CAA62346.1.
AB290172 mRNA. Translation: BAG06726.1.
AC011298 Genomic DNA. Translation: AAX93239.1.
AC112784 Genomic DNA. No translation available.
BC064906 mRNA. Translation: AAH64906.1.
BC111780 mRNA. Translation: AAI11781.1.
BC111799 mRNA. Translation: AAI11800.1.
AB210029 mRNA. Translation: BAE06111.1. Sequence problems.
AF004425 mRNA. Translation: AAD02917.1.
AB209138 mRNA. Translation: BAD92375.1.
U37194 mRNA. Translation: AAA80352.1.
L79946 mRNA. Translation: AAB04640.1.
AF038173 mRNA. Translation: AAB97363.1. Different initiation.
BX537556 mRNA. Translation: CAH56161.1.
CCDSiCCDS46561.1. [Q12756-1]
CCDS58757.1. [Q12756-3]
RefSeqiNP_001230937.1. NM_001244008.1. [Q12756-3]
NP_004312.2. NM_004321.6. [Q12756-1]
XP_005247080.1. XM_005247023.1. [Q12756-2]
XP_005247085.1. XM_005247028.1. [Q12756-1]
UniGeneiHs.516802.

Genome annotation databases

EnsembliENST00000320389; ENSP00000322791; ENSG00000130294. [Q12756-1]
ENST00000498729; ENSP00000438388; ENSG00000130294. [Q12756-3]
GeneIDi547.
KEGGihsa:547.
UCSCiuc002vzz.2. human. [Q12756-2]
uc031rsb.1. human. [Q12756-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X90840 mRNA. Translation: CAA62346.1.
AB290172 mRNA. Translation: BAG06726.1.
AC011298 Genomic DNA. Translation: AAX93239.1.
AC112784 Genomic DNA. No translation available.
BC064906 mRNA. Translation: AAH64906.1.
BC111780 mRNA. Translation: AAI11781.1.
BC111799 mRNA. Translation: AAI11800.1.
AB210029 mRNA. Translation: BAE06111.1. Sequence problems.
AF004425 mRNA. Translation: AAD02917.1.
AB209138 mRNA. Translation: BAD92375.1.
U37194 mRNA. Translation: AAA80352.1.
L79946 mRNA. Translation: AAB04640.1.
AF038173 mRNA. Translation: AAB97363.1. Different initiation.
BX537556 mRNA. Translation: CAH56161.1.
CCDSiCCDS46561.1. [Q12756-1]
CCDS58757.1. [Q12756-3]
RefSeqiNP_001230937.1. NM_001244008.1. [Q12756-3]
NP_004312.2. NM_004321.6. [Q12756-1]
XP_005247080.1. XM_005247023.1. [Q12756-2]
XP_005247085.1. XM_005247028.1. [Q12756-1]
UniGeneiHs.516802.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4EGXX-ray2.51A/B/C/D430-607[»]
4EJQX-ray1.89A/B/C/D/E/F/G/H458-607[»]
4UXOelectron microscopy6.30C1-361[»]
4UXPelectron microscopy6.30C1-361[»]
4UXRelectron microscopy7.00C1-361[»]
4UXSelectron microscopy7.00C1-361[»]
ProteinModelPortaliQ12756.
SMRiQ12756. Positions 4-353, 430-605.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107029. 40 interactions.
DIPiDIP-42405N.
IntActiQ12756. 2 interactions.
MINTiMINT-1173769.
STRINGi9606.ENSP00000322791.

PTM databases

PhosphoSiteiQ12756.

Polymorphism and mutation databases

BioMutaiKIF1A.
DMDMi119364606.

Proteomic databases

MaxQBiQ12756.
PaxDbiQ12756.
PRIDEiQ12756.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320389; ENSP00000322791; ENSG00000130294. [Q12756-1]
ENST00000498729; ENSP00000438388; ENSG00000130294. [Q12756-3]
GeneIDi547.
KEGGihsa:547.
UCSCiuc002vzz.2. human. [Q12756-2]
uc031rsb.1. human. [Q12756-1]

Organism-specific databases

CTDi547.
GeneCardsiGC02M240713.
GeneReviewsiKIF1A.
HGNCiHGNC:888. KIF1A.
HPAiHPA005442.
MIMi601255. gene.
610357. phenotype.
614213. phenotype.
614255. phenotype.
neXtProtiNX_Q12756.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
101010. Autosomal recessive spastic paraplegia type 30.
970. Hereditary sensory and autonomic neuropathy type 2.
PharmGKBiPA25180.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5059.
GeneTreeiENSGT00770000120451.
HOGENOMiHOG000165968.
HOVERGENiHBG052251.
InParanoidiQ12756.
KOiK10392.
OMAiHCVFRSD.
OrthoDBiEOG77Q4VS.
PhylomeDBiQ12756.
TreeFamiTF105221.

Miscellaneous databases

ChiTaRSiKIF1A. human.
GeneWikiiKIF1A.
GenomeRNAii547.
NextBioi2265.
PROiQ12756.
SOURCEiSearch...

Gene expression databases

BgeeiQ12756.
ExpressionAtlasiQ12756. baseline and differential.
GenevisibleiQ12756. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
2.60.200.20. 1 hit.
3.40.850.10. 1 hit.
InterProiIPR000253. FHA_dom.
IPR022164. Kinesin-like.
IPR027640. Kinesin-like_fam.
IPR022140. Kinesin-like_KIF1-typ.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
IPR011993. PH/PTB_dom.
IPR001849. PH_domain.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PANTHERiPTHR24115. PTHR24115. 1 hit.
PfamiPF12473. DUF3694. 1 hit.
PF00498. FHA. 1 hit.
PF12423. KIF1B. 1 hit.
PF00225. Kinesin. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
PRINTSiPR00380. KINESINHEAVY.
SMARTiSM00240. FHA. 1 hit.
SM00129. KISc. 1 hit.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50006. FHA_DOMAIN. 1 hit.
PS00411. KINESIN_MOTOR_1. 1 hit.
PS50067. KINESIN_MOTOR_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
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Publicationsi

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  1. "Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9q34."
    Furlong R.A., Zhou C.Y., Ferguson-Smith M.A., Affara N.A.
    Genomics 33:421-429(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "Multiplex amplification and cloning of 5'-ends of cDNA by ligase-free recombination: preparation of full-length cDNA clones encoding motor proteins."
    Yamakawa H., Kikuno R.F., Nagase T., Ohara O.
    Submitted (JAN-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Brain.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Pancreas.
  5. "Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method."
    Nakajima D., Saito K., Yamakawa H., Kikuno R.F., Nakayama M., Ohara R., Okazaki N., Koga H., Nagase T., Ohara O.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1362 (ISOFORM 2).
    Tissue: Brain.
  6. Bost-Usinger L., Hoang E.H.
    Submitted (MAY-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 102-251.
    Tissue: Retina.
  7. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 882-1690 (ISOFORM 1).
    Tissue: Brain.
  8. "A putative human kinesin family member with sequence similarity to unc-104 and KIF1A."
    Campagna S.E., Otsuka A.J.
    Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1030-1690 (ISOFORM 1).
    Tissue: Brain.
  9. Yu W., Sarginson J., Gibbs R.A.
    Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1275-1690 (ISOFORM 1).
    Tissue: Brain.
  10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1318-1690 (ISOFORM 1).
    Tissue: Amygdala.
  11. Cited for: INVOLVEMENT IN HSN2C.
  12. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT MRD9 MET-99, CHARACTERIZATION OF VARIANT MRD9 MET-99.
  13. Erratum
    Hamdan F.F., Gauthier J., Araki Y., Lin D.T., Yoshizawa Y., Higashi K., Park A.R., Spiegelman D., Dobrzeniecka S., Piton A., Tomitori H., Daoud H., Massicotte C., Henrion E., Diallo O., Shekarabi M., Marineau C., Shevell M.
    , Maranda B., Mitchell G., Nadeau A., D'Anjou G., Vanasse M., Srour M., Lafreniere R.G., Drapeau P., Lacaille J.C., Kim E., Lee J.R., Igarashi K., Huganir R.L., Rouleau G.A., Michaud J.L.
    Am. J. Hum. Genet. 88:516-516(2011)
  14. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-416; SER-418; SER-419; SER-937; SER-1310 AND SER-1548, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis."
    Erlich Y., Edvardson S., Hodges E., Zenvirt S., Thekkat P., Shaag A., Dor T., Hannon G.J., Elpeleg O.
    Genome Res. 21:658-664(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SPG30 VAL-255.
+Additional computationally mapped references.

Entry informationi

Entry nameiKIF1A_HUMAN
AccessioniPrimary (citable) accession number: Q12756
Secondary accession number(s): B0I1S5
, F5H045, O95068, Q13355, Q14752, Q2NKJ6, Q4LE42, Q53T78, Q59GH1, Q63Z40, Q6P1R9, Q7KZ57
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 12, 2006
Last modified: September 16, 2015
This is version 143 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.