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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CRIPTO-1 Is Immunolocalized in the Syncytiotrophoblast of Ampullary Pregnancies.
Title: CRIPTO-1 Is Immunolocalized in the Syncytiotrophoblast of Ampullary Pregnancies.
miR-3929 Inhibits Proliferation and Promotes Apoptosis by Downregulating Cripto-1 Expression in Cervical Cancer Cells.
Title: miR-3929 Inhibits Proliferation and Promotes Apoptosis by Downregulating Cripto-1 Expression in Cervical Cancer Cells.
Oncofetal Protein CRIPTO Is Involved in Wound Healing and Fibrogenesis in the Regenerating Liver and Is Associated with the Initial Stages of Cardiac Fibrosis.
Title: Oncofetal Protein CRIPTO Is Involved in Wound Healing and Fibrogenesis in the Regenerating Liver and Is Associated with the Initial Stages of Cardiac Fibrosis.
Liver-specific over-expression of Cripto-1 in transgenic mice promotes hepatocyte proliferation and deregulated expression of hepatocarcinogenesis-related genes and signaling pathways.
Title: Liver-specific over-expression of Cripto-1 in transgenic mice promotes hepatocyte proliferation and deregulated expression of hepatocarcinogenesis-related genes and signaling pathways.
Cripto favors chondrocyte hypertrophy via TGF-beta SMAD1/5 signaling during development of osteoarthritis.
Title: Cripto favors chondrocyte hypertrophy via TGF-β SMAD1/5 signaling during development of osteoarthritis.
Cripto-1 as a Key Factor in Tumor Progression, Epithelial to Mesenchymal Transition and Cancer Stem Cells.
Title: Cripto-1 as a Key Factor in Tumor Progression, Epithelial to Mesenchymal Transition and Cancer Stem Cells.
KRAS mutation and abnormal expression of Cripto-1 as two potential candidate biomarkers for detection of colorectal cancer development.
Title: KRAS mutation and abnormal expression of Cripto-1 as two potential candidate biomarkers for detection of colorectal cancer development.
Prognostic value of cripto-1 expression in non-small-cell lung cancer patients: a systematic review and meta-analysis.
Title: Prognostic value of cripto-1 expression in non-small-cell lung cancer patients: a systematic review and meta-analysis.
[Expression and Prognostic Value of Cripto-1 in Pancreatic Cancer].
Title: [Expression and Prognostic Value of Cripto-1 in Pancreatic Cancer].
E2A regulates neural ectoderm fate specification in human embryonic stem cells.
Title: E2A regulates neural ectoderm fate specification in human embryonic stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (90)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

RH79926 (e-PCR)
- UniSTS:91531

GDB:252101 (e-PCR)
- UniSTS:156328

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

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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

NG_017049.1 RefSeqGene

Range

8234..12903

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001174136.2 → NP_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:67 → 91

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:99 → 133

CFC; Cripto_Frl-1_Cryptic (CFC)

cl17037
Location:131 → 167

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_003212.4 → NP_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:83 → 107

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:115 → 149

CFC; Cripto_Frl-1_Cryptic (CFC)

cl17037
Location:147 → 183

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily