UniProtKB - Q9P021 (CRIPT_HUMAN)
UniProt
Q9P021 - CRIPT_HUMAN
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Protein
Cysteine-rich PDZ-binding protein
Gene
CRIPT
Organism
Homo sapiens (Human)
Status
Functioni
Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses.By similarity
GO - Molecular functioni
- microtubule binding Source: UniProtKB
- PDZ domain binding Source: UniProtKB
- protein complex binding Source: UniProtKB
- scaffold protein binding Source: BHF-UCL
GO - Biological processi
- cytoplasmic microtubule organization Source: UniProtKB
- establishment of protein localization Source: UniProtKB
- protein localization to microtubule Source: UniProtKB
- regulation of postsynaptic density protein 95 clustering Source: UniProtKB
Names & Taxonomyi
Protein namesi | Recommended name: Cysteine-rich PDZ-binding proteinAlternative name(s): Cysteine-rich interactor of PDZ three Short name: Cysteine-rich interactor of PDZ3 |
Gene namesi | Name:CRIPT ORF Names:HSPC139 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi | UP000005640: Chromosome 2 Componenti |
Organism-specific databases
HGNCi | HGNC:14312. CRIPT. |
Subcellular locationi
- Cytoplasm By similarity
- Cell junction › synapse By similarity
- Cell projection › dendritic spine By similarity
Note: Colocalizes with DLG4 in asymmetric synapses.By similarity
GO - Cellular componenti
- cell junction Source: UniProtKB-KW
- cytoplasm Source: UniProtKB-SubCell
- dendrite Source: UniProtKB
- dendritic shaft Source: UniProtKB
- dendritic spine Source: UniProtKB
- neuronal cell body Source: UniProtKB
- nucleolus Source: HPA
- nucleus Source: HPA
- postsynaptic density Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cell projection, Cytoplasm, SynapsePathology & Biotechi
Involvement in diseasei
Short stature with microcephaly and distinctive facies (SSMF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by dwarfism, microcephaly, and distinctive facial dysmorphism involving frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis, anteverted nares, and flat nasal bridge.
See also OMIM:615789Keywords - Diseasei
DwarfismOrganism-specific databases
MalaCardsi | CRIPT. |
MIMi | 615789. phenotype. |
PharmGKBi | PA145149101. |
Polymorphism and mutation databases
DMDMi | 74734765. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
---|---|---|---|---|---|---|
Chaini | 1 – 101 | 101 | Cysteine-rich PDZ-binding protein | PRO_0000314563 | Add BLAST |
Proteomic databases
MaxQBi | Q9P021. |
PaxDbi | Q9P021. |
PeptideAtlasi | Q9P021. |
PRIDEi | Q9P021. |
PTM databases
iPTMneti | Q9P021. |
PhosphoSitei | Q9P021. |
Expressioni
Gene expression databases
Bgeei | Q9P021. |
CleanExi | HS_CRIPT. |
Genevisiblei | Q9P021. HS. |
Organism-specific databases
HPAi | HPA046080. HPA056765. |
Interactioni
Subunit structurei
Interacts with TUBB1. Interacts strongly with the PDZ3 domain of members of the DLG4 family. Associates with microtubules (By similarity). Interacts with DLG4.By similarity1 Publication
Binary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
Dlg3 | Q62936 | 5 | EBI-946968,EBI-349596 | From a different organism. |
DLG4 | P78352 | 4 | EBI-946968,EBI-80389 | |
Dlg4 | P31016 | 2 | EBI-946968,EBI-375655 | From a different organism. |
GO - Molecular functioni
- microtubule binding Source: UniProtKB
- PDZ domain binding Source: UniProtKB
- protein complex binding Source: UniProtKB
- scaffold protein binding Source: BHF-UCL
Protein-protein interaction databases
BioGridi | 114812. 6 interactions. |
DIPi | DIP-41219N. |
IntActi | Q9P021. 13 interactions. |
MINTi | MINT-1900575. |
STRINGi | 9606.ENSP00000238892. |
Family & Domainsi
Region
Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
---|---|---|---|---|---|---|
Regioni | 95 – 101 | 7 | Sufficient for interaction with DLG4 | |||
Regioni | 98 – 101 | 4 | PDZ3-binding |
Sequence similaritiesi
Belongs to the CRIPT family.Curated
Phylogenomic databases
eggNOGi | KOG3476. Eukaryota. ENOG4111RAI. LUCA. |
GeneTreei | ENSGT00390000002260. |
HOGENOMi | HOG000242625. |
HOVERGENi | HBG097641. |
InParanoidi | Q9P021. |
OMAi | PNPWRTS. |
OrthoDBi | EOG75B87J. |
PhylomeDBi | Q9P021. |
TreeFami | TF300144. |
Family and domain databases
InterProi | IPR019367. PDZ-binding_CRIPT. [Graphical view] |
Pfami | PF10235. Cript. 1 hit. [Graphical view] |
i Sequence
Sequence statusi: Complete.
Q9P021-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MVCEKCEKKL GTVITPDTWK DGARNTTESG GRKLNENKAL TSKKARFDPY
60 70 80 90 100
GKNKFSTCRI CKSSVHQPGS HYCQGCAYKK GICAMCGKKV LDTKNYKQTS
V
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF161488 mRNA. Translation: AAF29103.1. AK291298 mRNA. Translation: BAF83987.1. AC018682 Genomic DNA. Translation: AAY14836.1. CH471053 Genomic DNA. Translation: EAX00239.1. BC006980 mRNA. Translation: AAH06980.1. BC018653 mRNA. Translation: AAH18653.1. |
CCDSi | CCDS1829.1. |
RefSeqi | NP_054890.1. NM_014171.5. |
UniGenei | Hs.133998. Hs.634293. |
Genome annotation databases
Ensembli | ENST00000238892; ENSP00000238892; ENSG00000119878. |
GeneIDi | 9419. |
KEGGi | hsa:9419. |
UCSCi | uc002rve.3. human. |
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF161488 mRNA. Translation: AAF29103.1. AK291298 mRNA. Translation: BAF83987.1. AC018682 Genomic DNA. Translation: AAY14836.1. CH471053 Genomic DNA. Translation: EAX00239.1. BC006980 mRNA. Translation: AAH06980.1. BC018653 mRNA. Translation: AAH18653.1. |
CCDSi | CCDS1829.1. |
RefSeqi | NP_054890.1. NM_014171.5. |
UniGenei | Hs.133998. Hs.634293. |
3D structure databases
ProteinModelPortali | Q9P021. |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 114812. 6 interactions. |
DIPi | DIP-41219N. |
IntActi | Q9P021. 13 interactions. |
MINTi | MINT-1900575. |
STRINGi | 9606.ENSP00000238892. |
PTM databases
iPTMneti | Q9P021. |
PhosphoSitei | Q9P021. |
Polymorphism and mutation databases
DMDMi | 74734765. |
Proteomic databases
MaxQBi | Q9P021. |
PaxDbi | Q9P021. |
PeptideAtlasi | Q9P021. |
PRIDEi | Q9P021. |
Protocols and materials databases
DNASUi | 9419. |
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000238892; ENSP00000238892; ENSG00000119878. |
GeneIDi | 9419. |
KEGGi | hsa:9419. |
UCSCi | uc002rve.3. human. |
Organism-specific databases
CTDi | 9419. |
GeneCardsi | CRIPT. |
HGNCi | HGNC:14312. CRIPT. |
HPAi | HPA046080. HPA056765. |
MalaCardsi | CRIPT. |
MIMi | 604594. gene. 615789. phenotype. |
neXtProti | NX_Q9P021. |
PharmGKBi | PA145149101. |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3476. Eukaryota. ENOG4111RAI. LUCA. |
GeneTreei | ENSGT00390000002260. |
HOGENOMi | HOG000242625. |
HOVERGENi | HBG097641. |
InParanoidi | Q9P021. |
OMAi | PNPWRTS. |
OrthoDBi | EOG75B87J. |
PhylomeDBi | Q9P021. |
TreeFami | TF300144. |
Miscellaneous databases
ChiTaRSi | CRIPT. human. |
GeneWikii | CRIPT. |
GenomeRNAii | 9419. |
NextBioi | 35282. |
PROi | Q9P021. |
SOURCEi | Search... |
Gene expression databases
Bgeei | Q9P021. |
CleanExi | HS_CRIPT. |
Genevisiblei | Q9P021. HS. |
Family and domain databases
InterProi | IPR019367. PDZ-binding_CRIPT. [Graphical view] |
Pfami | PF10235. Cript. 1 hit. [Graphical view] |
ProtoNeti | Search... |
Publicationsi
- "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. Chen Z.
Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].Tissue: Blood. - "Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].Tissue: Tongue. - "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. Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. - Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databasesCited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. - "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].Tissue: Brain and Kidney. - "A thermodynamic ligand binding study of the third PDZ domain (PDZ3) from the mammalian neuronal protein PSD-95."
Saro D., Li T., Rupasinghe C., Paredes A., Caspers N., Spaller M.R.
Biochemistry 46:6340-6352(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH DLG4. - "Genomic analysis of primordial dwarfism reveals novel disease genes."
Shaheen R., Faqeih E., Ansari S., Abdel-Salam G., Al-Hassnan Z.N., Al-Shidi T., Alomar R., Sogaty S., Alkuraya F.S.
Genome Res. 24:291-299(2014) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN SSMF.
Entry informationi
Entry namei | CRIPT_HUMAN | ||||||||
Accessioni | Q9P021Primary (citable) accession number: Q9P021 | ||||||||
Entry historyi |
| ||||||||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
Annotation program | Chordata Protein Annotation Program | ||||||||
Disclaimer | Any 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
Complete proteome, Reference proteomeDocuments
- Human chromosome 2Human chromosome 2: entries, gene names and cross-references to MIM
- MIM cross-referencesOnline Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
- SIMILARITY commentsIndex of protein domains and families
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 one 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. |