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CRIPTO cripto, EGF-CFC family member [ Homo sapiens (human) ]

Gene ID: 6997, updated on 17-Sep-2024

Summary

Official Symbol
CRIPTOprovided by HGNC
Official Full Name
cripto, EGF-CFC family memberprovided by HGNC
Primary source
HGNC:HGNC:11701
See related
Ensembl:ENSG00000241186 MIM:187395; AllianceGenome:HGNC:11701
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CR; CR-1; CRGF; TDGF1
Summary
This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Expression
Biased expression in spleen (RPKM 9.5), kidney (RPKM 5.0) and 5 other tissues See more
Orthologs
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Genomic context

See CRIPTO in Genome Data Viewer
Location:
3p21.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (46574535..46582457)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (46590623..46598545)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46616025..46623947)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6156 Neighboring gene receptor transporter protein 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:46561999-46563198 Neighboring gene leucine rich repeat containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46585952-46586496 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46598181-46598782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46604407-46604908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46605580-46606490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46606491-46607401 Neighboring gene LRRC2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12028 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:46615492-46616264 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:46616265-46617037 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46617811-46618582 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46618583-46619356 Neighboring gene hESC enhancers GRCh37_chr3:46620129-46620901 and GRCh37_chr3:46620902-46621673 Neighboring gene NANOG hESC enhancer GRCh37_chr3:46646153-46646654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46659485-46659985 Neighboring gene family with sequence similarity 240 member A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46671119-46671867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46702285-46702880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46703861-46704506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46713160-46713970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46717270-46717818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46720185-46720684 Neighboring gene ALS2 C-terminal like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46733733-46734524 Neighboring gene Sharpr-MPRA regulatory region 4085

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2011-12-27)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2011-12-27)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables activin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables growth factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables nodal binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in anterior/posterior axis specification, embryo ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in blood vessel development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in cell migration involved in sprouting angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to epidermal growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to fibroblast growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to hepatocyte growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to interleukin-6 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to tumor necrosis factor IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to type II interferon IDA
Inferred from Direct Assay
more info
PubMed 
involved_in determination of left/right symmetry IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in embryo development ending in birth or egg hatching TAS
Traceable Author Statement
more info
PubMed 
NOT acts_upstream_of_or_within epidermal growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in heart development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mammary gland development TAS
Traceable Author Statement
more info
PubMed 
involved_in morphogenesis of a branching structure TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nodal signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell population proliferation TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in extrinsic component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in side of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein Cripto
Names
cripto-1 growth factor
epidermal growth factor-like cripto protein CR1
teratocarcinoma-derived growth factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017049.1 RefSeqGene

    Range
    8234..12903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001174136.2NP_001167607.1  protein Cripto isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences causes translation initiation at a downstream AUG and results an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC104304, CX755454, X14253
    Consensus CDS
    CCDS54575.1
    UniProtKB/TrEMBL
    B2R8C7, F5H1T8
    Related
    ENSP00000446375.1, ENST00000542931.6
    Conserved Domains (3) summary
    cd00054
    Location:6791
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam09443
    Location:99133
    CFC; Cripto_Frl-1_Cryptic (CFC)
    cl17037
    Location:131167
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
  2. NM_003212.4NP_003203.1  protein Cripto isoform 1 precursor

    See identical proteins and their annotated locations for NP_003203.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC104304, DA941183, X14253
    Consensus CDS
    CCDS2742.1
    UniProtKB/Swiss-Prot
    P13385, Q8TCC1
    UniProtKB/TrEMBL
    B2R8C7
    Related
    ENSP00000296145.5, ENST00000296145.6
    Conserved Domains (3) summary
    cd00054
    Location:83107
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam09443
    Location:115149
    CFC; Cripto_Frl-1_Cryptic (CFC)
    cl17037
    Location:147183
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    46574535..46582457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    46590623..46598545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)