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CARD10 caspase recruitment domain family member 10 [ Homo sapiens (human) ]

Gene ID: 29775, updated on 7-Jun-2020

Summary

Official Symbol
CARD10provided by HGNC
Official Full Name
caspase recruitment domain family member 10provided by HGNC
Primary source
HGNC:HGNC:16422
See related
Ensembl:ENSG00000100065 MIM:607209
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
BIMP1; CARMA3
Summary
The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]
Expression
Broad expression in small intestine (RPKM 15.9), duodenum (RPKM 15.0) and 22 other tissues See more
Orthologs

Genomic context

See CARD10 in Genome Data Viewer
Location:
22q13.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37490362..37519415, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37886400..37915543, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506271 Neighboring gene extracellular leucine rich repeat and fibronectin type III domain containing 2 Neighboring gene MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene GATA motif-containing MPRA enhancer 128 Neighboring gene CDC42 effector protein 1

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.
NHGRI GWA Catalog
Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MFNG

Homology

Clone Names

  • MGC142219

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CARD domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor signaling complex scaffold activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
CBM complex NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
caspase recruitment domain-containing protein 10
Names
Bcl10 binding protein and activator of NFKB
CARD-containing MAGUK 3 protein
CARD-containing MAGUK protein 3
carma 3

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.

mRNA and Protein(s)

  1. NM_014550.4NP_055365.2  caspase recruitment domain-containing protein 10

    See identical proteins and their annotated locations for NP_055365.2

    Status: REVIEWED

    Source sequence(s)
    AK057334, AL022315, AY028896, AY032928, BC032058
    Consensus CDS
    CCDS13948.1
    UniProtKB/Swiss-Prot
    Q9BWT7
    Related
    ENSP00000251973.5, ENST00000251973.10
    Conserved Domains (4) summary
    cd08807
    Location:27112
    CARD_CARD10_CARMA3; Caspase activation and recruitment domain of CARD10-like proteins
    pfam10267
    Location:112245
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl12138
    Location:282395
    ThylakoidFormat; Thylakoid formation protein
    cl17036
    Location:705770
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    37490362..37519415 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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