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Aliases for CRIPT Gene

Aliases for CRIPT Gene

  • CXXC Repeat Containing Interactor Of PDZ3 Domain 2 3
  • Cysteine-Rich Interactor Of PDZ Three 3 4
  • Cysteine-Rich PDZ-Binding Protein 2 5
  • Cysteine-Rich Interactor Of PDZ3 3 4
  • Postsynaptic Protein CRIPT 3
  • HSPC139 3
  • SSMDF 3

External Ids for CRIPT Gene

Previous GeneCards Identifiers for CRIPT Gene

  • GC02P046862
  • GC02P047013
  • GC02P046802
  • GC02P046818
  • GC02P046755
  • GC02P046697
  • GC02P046843

Summaries for CRIPT Gene

Entrez Gene Summary for CRIPT Gene

  • This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]

GeneCards Summary for CRIPT Gene

CRIPT (CXXC Repeat Containing Interactor Of PDZ3 Domain) is a Protein Coding gene. Diseases associated with CRIPT include short stature with microcephaly and distinctive facies and growth hormone deficiency, isolated, type ia. GO annotations related to this gene include protein complex binding and PDZ domain binding.

UniProtKB/Swiss-Prot for CRIPT Gene

  • Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses.

Gene Wiki entry for CRIPT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRIPT Gene

Genomics for CRIPT Gene

Regulatory Elements for CRIPT Gene

Promoters for CRIPT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CRIPT on UCSC Golden Path with GeneCards custom track

Genomic Location for CRIPT Gene

Chromosome:
2
Start:
46,616,416 bp from pter
End:
46,630,176 bp from pter
Size:
13,761 bases
Orientation:
Plus strand

Genomic View for CRIPT Gene

Genes around CRIPT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRIPT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRIPT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRIPT Gene

Proteins for CRIPT Gene

  • Protein details for CRIPT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P021-CRIPT_HUMAN
    Recommended name:
    Cysteine-rich PDZ-binding protein
    Protein Accession:
    Q9P021

    Protein attributes for CRIPT Gene

    Size:
    101 amino acids
    Molecular mass:
    11216 Da
    Quaternary structure:
    • Interacts with TUBB1. Interacts strongly with the PDZ3 domain of members of the DLG4 family. Associates with microtubules (By similarity). Interacts with DLG4.

neXtProt entry for CRIPT Gene

Proteomics data for CRIPT Gene at MOPED

Post-translational modifications for CRIPT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRIPT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRIPT Gene

Domains & Families for CRIPT Gene

Protein Domains for CRIPT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CRIPT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P021

UniProtKB/Swiss-Prot:

CRIPT_HUMAN :
  • Belongs to the CRIPT family.
Family:
  • Belongs to the CRIPT family.
genes like me logo Genes that share domains with CRIPT: view

No data available for Gene Families for CRIPT Gene

Function for CRIPT Gene

Molecular function for CRIPT Gene

UniProtKB/Swiss-Prot Function:
Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses.

Gene Ontology (GO) - Molecular Function for CRIPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097110 scaffold protein binding IDA 17474715
genes like me logo Genes that share ontologies with CRIPT: view

Phenotypes for CRIPT Gene

MGI mutant phenotypes for CRIPT:
inferred from 2 alleles
GenomeRNAi human phenotypes for CRIPT:
genes like me logo Genes that share phenotypes with CRIPT: view

Human Phenotype Ontology for CRIPT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRIPT Gene

MGI Knock Outs for CRIPT:

Animal Model Products

miRNA for CRIPT Gene

miRTarBase miRNAs that target CRIPT

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CRIPT Gene

Localization for CRIPT Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRIPT Gene

Cytoplasm. Cell junction, synapse. Cell projection, dendritic spine. Note=Colocalizes with DLG4 in asymmetric synapses. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRIPT Gene COMPARTMENTS Subcellular localization image for CRIPT gene
Compartment Confidence
nucleus 5
extracellular 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CRIPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0014069 postsynaptic density IEA,ISS --
GO:0030425 dendrite IEA,ISS --
genes like me logo Genes that share ontologies with CRIPT: view

Pathways & Interactions for CRIPT Gene

SuperPathways for CRIPT Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRIPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031122 cytoplasmic microtubule organization IEA,ISS --
genes like me logo Genes that share ontologies with CRIPT: view

No data available for Pathways by source and SIGNOR curated interactions for CRIPT Gene

Drugs & Compounds for CRIPT Gene

No Compound Related Data Available

Transcripts for CRIPT Gene

mRNA/cDNA for CRIPT Gene

Unigene Clusters for CRIPT Gene

Cysteine-rich PDZ-binding protein:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRIPT Gene

No ASD Table

Relevant External Links for CRIPT Gene

GeneLoc Exon Structure for
CRIPT
ECgene alternative splicing isoforms for
CRIPT

Expression for CRIPT Gene

mRNA expression in normal human tissues for CRIPT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CRIPT Gene

This gene is overexpressed in Breast (31.2) and CD4 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CRIPT Gene



SOURCE GeneReport for Unigene cluster for CRIPT Gene Hs.133998

genes like me logo Genes that share expression patterns with CRIPT: view

Protein tissue co-expression partners for CRIPT Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CRIPT Gene

Orthologs for CRIPT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CRIPT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CRIPT 35
  • 94.06 (n)
  • 100 (a)
CRIPT 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRIPT 35
  • 96.37 (n)
  • 100 (a)
CRIPT 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cript 35
  • 90.76 (n)
  • 99.01 (a)
Cript 16
Cript 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CRIPT 35
  • 100 (n)
  • 100 (a)
CRIPT 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cript 35
  • 89.44 (n)
  • 99.01 (a)
oppossum
(Monodelphis domestica)
Mammalia CRIPT 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRIPT 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRIPT 35
  • 82.18 (n)
  • 96.04 (a)
CRIPT 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRIPT 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cript 35
  • 80.2 (n)
  • 94.06 (a)
Str.1099 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14004 35
zebrafish
(Danio rerio)
Actinopterygii cript 35
  • 77.23 (n)
  • 93.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4537 37
  • 60 (a)
CG4537 35
  • 58.68 (n)
  • 62.5 (a)
CG4537 36
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010721 35
  • 68 (n)
  • 76 (a)
worm
(Caenorhabditis elegans)
Secernentea C36B1.14 36
  • 42 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G61780 35
  • 62.24 (n)
  • 68.37 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7291 35
barley
(Hordeum vulgare)
Liliopsida Hv.667 35
rice
(Oryza sativa)
Liliopsida Os08g0190800 35
  • 61.86 (n)
  • 68.04 (a)
corn
(Zea mays)
Liliopsida Zm.8100 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4340 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3282 36
  • 68 (a)
OneToOne
Species with no ortholog for CRIPT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CRIPT Gene

ENSEMBL:
Gene Tree for CRIPT (if available)
TreeFam:
Gene Tree for CRIPT (if available)

Paralogs for CRIPT Gene

Pseudogenes.org Pseudogenes for CRIPT Gene

genes like me logo Genes that share paralogs with CRIPT: view

No data available for Paralogs for CRIPT Gene

Variants for CRIPT Gene

Sequence variations from dbSNP and Humsavar for CRIPT Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs8390 -- 46,624,728(-) TCTAG(A/G)TTAAT utr-variant-3-prime
rs1080871 -- 46,627,569(+) ctccc(A/G)accta utr-variant-3-prime
rs1080872 -- 46,627,558(+) catgc(A/C)tcagc utr-variant-3-prime
rs1456010 -- 46,628,658(+) TGGCC(A/G)CACTT utr-variant-3-prime
rs1989720 -- 46,627,225(+) atatt(C/T)tctcc utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CRIPT Gene

Variant ID Type Subtype PubMed ID
dgv1181e1 CNV Complex 17122850
nsv873996 CNV Gain 21882294
nsv873997 CNV Loss 21882294

Variation tolerance for CRIPT Gene

Residual Variation Intolerance Score: 46.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.37; 8.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRIPT Gene

HapMap Linkage Disequilibrium report
CRIPT
Human Gene Mutation Database (HGMD)
CRIPT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRIPT Gene

Disorders for CRIPT Gene

MalaCards: The human disease database

(3) MalaCards diseases for CRIPT Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CRIPT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRIPT_HUMAN
  • Short stature with microcephaly and distinctive facies (SSMF) [MIM:615789]: A 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. {ECO:0000269 PubMed:24389050}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CRIPT

Genetic Association Database (GAD)
CRIPT
Human Genome Epidemiology (HuGE) Navigator
CRIPT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRIPT
genes like me logo Genes that share disorders with CRIPT: view

No data available for Genatlas for CRIPT Gene

Publications for CRIPT Gene

  1. Genomic analysis of primordial dwarfism reveals novel disease genes. (PMID: 24389050) Shaheen R. … Alkuraya F.S. (Genome Res. 2014) 3 4 67
  2. The interaction between PSD-95 and Ca2+/calmodulin is enhanced by PDZ-binding proteins. (PMID: 16091592) Fukunaga Y. … Miyazawa A. (J. Biochem. 2005) 2 3
  3. The PDZ1 domain of SAP90. Characterization of structure and binding. (PMID: 11744724) Piserchio A. … Mierke D.F. (J. Biol. Chem. 2002) 2 3
  4. Microtubule binding by CRIPT and its potential role in the synaptic clustering of PSD-95. (PMID: 10570482) Passafaro M. … Sheng M. (Nat. Neurosci. 1999) 2 3
  5. CRIPT, a novel postsynaptic protein that binds to the third PDZ domain of PSD-95/SAP90. (PMID: 9581762) Niethammer M. … Sheng M. (Neuron 1998) 2 3

Products for CRIPT Gene

Sources for CRIPT Gene

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