Format

Send to:

Choose Destination

TDGF1 teratocarcinoma-derived growth factor 1 [ Homo sapiens (human) ]

Gene ID: 6997, updated on 17-Jun-2019

Summary

Official Symbol
TDGF1provided by HGNC
Official Full Name
teratocarcinoma-derived growth factor 1provided by HGNC
Primary source
HGNC:HGNC:11701
See related
Ensembl:ENSG00000241186 MIM:187395
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; CRIPTO
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

Genomic context

See TDGF1 in Genome Data Viewer
Location:
3p21.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (46574535..46582457)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46616045..46623953)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene receptor transporter protein 3 Neighboring gene leucine rich repeat containing 2 Neighboring gene LRRC2 antisense RNA 1 Neighboring gene family with sequence similarity 240 member A Neighboring gene ALS2 C-terminal like

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
    Glypican 1 network, organism-specific biosystem
    Glypican 1 network
  • POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystem (from REACTOME)
    POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystemPOU5F1 (OCT4), SOX2, and NANOG bind elements in the promoters of target genes. The target genes of each transcription factor overlap extensively: POU5F1, SOX2, and NANOG co-occupy at least 353 genes ...
  • Regulation of signaling by NODAL, organism-specific biosystem (from REACTOME)
    Regulation of signaling by NODAL, organism-specific biosystemMature NODAL can form heterodimers with LEFTY1, LEFTY2, or CERBERUS. The heterodimers do not activate the NODAL receptor. LEFTY1 and LEFTY2 also bind CRIPTO and CRYPTIC coreceptors and prevent them f...
  • Signaling by NODAL, organism-specific biosystem (from REACTOME)
    Signaling by NODAL, organism-specific biosystemSignaling by NODAL is essential for patterning of the axes of the embryo and formation of mesoderm and endoderm (reviewed in Schier 2009, Shen 2007). The NODAL proprotein is secreted and cleaved extr...
  • Transcriptional regulation of pluripotent stem cells, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of pluripotent stem cells, organism-specific biosystemPluripotent stem cells are undifferentiated cells posessing an abbreviated cell cycle (reviewed in Stein et al. 2012), a characteristic profile of gene expression (Rao et al. 2004, Kim et al. 2006, P...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..12909
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001174136.2NP_001167607.1  teratocarcinoma-derived growth factor 1 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/Swiss-Prot
    P13385
    UniProtKB/TrEMBL
    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  teratocarcinoma-derived growth factor 1 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
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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