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Protein

Cysteine-rich PDZ-binding protein

Gene

CRIPT

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

Functioni

Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses.By similarity

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Cysteine-rich PDZ-binding protein
Alternative name(s):
Cysteine-rich interactor of PDZ three
Short name:
Cysteine-rich interactor of PDZ3
Gene namesi
Name:CRIPT
ORF Names:HSPC139
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000119878.5
HGNCiHGNC:14312 CRIPT
MIMi604594 gene
neXtProtiNX_Q9P021

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Synapse

Pathology & Biotechi

Involvement in diseasei

Short stature with microcephaly and distinctive facies (SSMF)2 Publications
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:615789
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0784253C → Y in SSMF. 1 PublicationCorresponds to variant dbSNP:rs757078301EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi9419
MalaCardsiCRIPT
MIMi615789 phenotype
OpenTargetsiENSG00000119878
PharmGKBiPA145149101

Polymorphism and mutation databases

DMDMi74734765

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003145631 – 101Cysteine-rich PDZ-binding proteinAdd BLAST101

Proteomic databases

EPDiQ9P021
MaxQBiQ9P021
PaxDbiQ9P021
PeptideAtlasiQ9P021
PRIDEiQ9P021
ProteomicsDBi83536
TopDownProteomicsiQ9P021

PTM databases

iPTMnetiQ9P021
PhosphoSitePlusiQ9P021

Expressioni

Gene expression databases

BgeeiENSG00000119878 Expressed in 227 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_CRIPT
GenevisibleiQ9P021 HS

Organism-specific databases

HPAiHPA046080
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114812, 17 interactors
DIPiDIP-41219N
IntActiQ9P021, 14 interactors
MINTiQ9P021
STRINGi9606.ENSP00000238892

Structurei

3D structure databases

ProteinModelPortaliQ9P021
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni95 – 101Sufficient for interaction with DLG41 Publication7
Regioni98 – 101PDZ3-binding4

Sequence similaritiesi

Belongs to the CRIPT family.Curated

Phylogenomic databases

eggNOGiKOG3476 Eukaryota
ENOG4111RAI LUCA
GeneTreeiENSGT00390000002260
HOGENOMiHOG000242625
HOVERGENiHBG097641
InParanoidiQ9P021
OMAiKYCHGCA
OrthoDBiEOG091G0YCT
PhylomeDBiQ9P021
TreeFamiTF300144

Family and domain databases

InterProiView protein in InterPro
IPR019367 PDZ-binding_CRIPT
PANTHERiPTHR11805 PTHR11805, 1 hit
PfamiView protein in Pfam
PF10235 Cript, 1 hit

Sequencei

Sequence statusi: Complete.

Q9P021-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVCEKCEKKL GTVITPDTWK DGARNTTESG GRKLNENKAL TSKKARFDPY
60 70 80 90 100
GKNKFSTCRI CKSSVHQPGS HYCQGCAYKK GICAMCGKKV LDTKNYKQTS

V
Length:101
Mass (Da):11,216
Last modified:October 1, 2000 - v1
Checksum:i161B0F4CA87DFBAD
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0784253C → Y in SSMF. 1 PublicationCorresponds to variant dbSNP:rs757078301EnsemblClinVar.1

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
CCDSiCCDS1829.1
RefSeqiNP_054890.1, NM_014171.5
UniGeneiHs.133998
Hs.634293

Genome annotation databases

EnsembliENST00000238892; ENSP00000238892; ENSG00000119878
GeneIDi9419
KEGGihsa:9419
UCSCiuc002rve.5 human

Similar proteinsi

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
CCDSiCCDS1829.1
RefSeqiNP_054890.1, NM_014171.5
UniGeneiHs.133998
Hs.634293

3D structure databases

ProteinModelPortaliQ9P021
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114812, 17 interactors
DIPiDIP-41219N
IntActiQ9P021, 14 interactors
MINTiQ9P021
STRINGi9606.ENSP00000238892

PTM databases

iPTMnetiQ9P021
PhosphoSitePlusiQ9P021

Polymorphism and mutation databases

DMDMi74734765

Proteomic databases

EPDiQ9P021
MaxQBiQ9P021
PaxDbiQ9P021
PeptideAtlasiQ9P021
PRIDEiQ9P021
ProteomicsDBi83536
TopDownProteomicsiQ9P021

Protocols and materials databases

DNASUi9419
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000238892; ENSP00000238892; ENSG00000119878
GeneIDi9419
KEGGihsa:9419
UCSCiuc002rve.5 human

Organism-specific databases

CTDi9419
DisGeNETi9419
EuPathDBiHostDB:ENSG00000119878.5
GeneCardsiCRIPT
HGNCiHGNC:14312 CRIPT
HPAiHPA046080
HPA056765
MalaCardsiCRIPT
MIMi604594 gene
615789 phenotype
neXtProtiNX_Q9P021
OpenTargetsiENSG00000119878
PharmGKBiPA145149101
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3476 Eukaryota
ENOG4111RAI LUCA
GeneTreeiENSGT00390000002260
HOGENOMiHOG000242625
HOVERGENiHBG097641
InParanoidiQ9P021
OMAiKYCHGCA
OrthoDBiEOG091G0YCT
PhylomeDBiQ9P021
TreeFamiTF300144

Miscellaneous databases

ChiTaRSiCRIPT human
GeneWikiiCRIPT
GenomeRNAii9419
PROiPR:Q9P021
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119878 Expressed in 227 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_CRIPT
GenevisibleiQ9P021 HS

Family and domain databases

InterProiView protein in InterPro
IPR019367 PDZ-binding_CRIPT
PANTHERiPTHR11805 PTHR11805, 1 hit
PfamiView protein in Pfam
PF10235 Cript, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCRIPT_HUMAN
AccessioniPrimary (citable) accession number: Q9P021
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 1, 2000
Last modified: September 12, 2018
This is version 126 of the entry and version 1 of the sequence. See 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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