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CFC1B cryptic, EGF-CFC family member 1B [ Homo sapiens (human) ]

Gene ID: 653275, updated on 27-Nov-2024

Summary

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Official Symbol
CFC1Bprovided by HGNC
Official Full Name
cryptic, EGF-CFC family member 1Bprovided by HGNC
Primary source
HGNC:HGNC:33983
See related
Ensembl:ENSG00000152093 AllianceGenome:HGNC:33983
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable activin receptor binding activity and nodal binding activity. Predicted to be involved in circulatory system development; nodal signaling pathway; and regionalization. Predicted to act upstream of or within several processes, including heart development; left lung morphogenesis; and spleen development. Predicted to be active in cell surface and extracellular region. Implicated in tetralogy of Fallot and visceral heterotaxy. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in stomach (RPKM 4.2), prostate (RPKM 2.9) and 2 other tissues See more
Orthologs
all
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Genomic context

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See CFC1B in Genome Data Viewer
Location:
2q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130521222..130528603)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130955059..130962469)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131278795..131286176)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 4 subfamily F member 62, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131206043-131206542 Neighboring gene POTE ankyrin domain family member I Neighboring gene RNA, U6 small nuclear 473, pseudogene Neighboring gene serine protease 40B (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131320684-131321250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131321251-131321816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131326595-131327096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131333984-131334654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131340236-131340736 Neighboring gene serine protease 40A (pseudogene)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables activin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nodal binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
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 determination of left/right symmetry IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gastrulation IEA
Inferred from Electronic Annotation
more info
  
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nodal signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
cryptic family protein 1B
Names
cripto, FRL-1, cryptic family 1B

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.

mRNA and Protein(s)

  1. NM_001079530.2 → NP_001072998.1  cryptic family protein 1B precursor

    See identical proteins and their annotated locations for NP_001072998.1

    Status: VALIDATED

    Source sequence(s)
    AC013269, BM716751, BQ777283, BU784123
    Consensus CDS
    CCDS33286.1
    UniProtKB/Swiss-Prot
    B2RCY0, B9EJD3, P0CG36, Q53T05, Q9GZR3
    UniProtKB/TrEMBL
    A8K229
    Related
    ENSP00000281882.3, ENST00000281882.8
    Conserved Domains (2) summary
    cd00054
    Location:91 → 115
    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:123 → 157
    CFC; Cripto_Frl-1_Cryptic (CFC)

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    130521222..130528603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    130955059..130962469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343477.1 → XP_054199452.1  cryptic family protein 1B isoform X2

    UniProtKB/TrEMBL
    A0A087WWV2

  2. XM_054343476.1 → XP_054199451.1  cryptic family protein 1B isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0CG36.1 GenPept UniProtKB/Swiss-Prot:P0CG36

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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