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CRADD CASP2 and RIPK1 domain containing adaptor with death domain [ Homo sapiens (human) ]

Gene ID: 8738, updated on 20-Dec-2019

Summary

Official Symbol
CRADDprovided by HGNC
Official Full Name
CASP2 and RIPK1 domain containing adaptor with death domainprovided by HGNC
Primary source
HGNC:HGNC:2340
See related
Ensembl:ENSG00000169372 MIM:603454
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
MRT34; RAIDD
Summary
This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in heart (RPKM 3.8), liver (RPKM 2.6) and 25 other tissues See more
Orthologs

Genomic context

See CRADD in Genome Data Viewer
Location:
12q22
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (93677342..93894840)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (94071121..94289530)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SOCS2 antisense RNA 1 Neighboring gene suppressor of cytokine signaling 2 Neighboring gene phosphoglycerate mutase 1 (brain) pseudogene Neighboring gene uncharacterized LOC101928731 Neighboring gene RNA, 7SL, cytoplasmic 630, pseudogene Neighboring gene uncharacterized LOC105369911 Neighboring gene uncharacterized LOC105369912 Neighboring gene RN7SK pseudogene 263

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

Associated conditions

Description Tests
Mental retardation, autosomal recessive 34
MedGen: C3281044 OMIM: 614499 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9163

Gene Ontology Provided by GOA

Function Evidence Code Pubs
death domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
protease binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
death domain-containing protein CRADD
Names
CRADD/LYZ fusion
RIP-associated ICH1/CED3-homologous protein with death domain
caspase and RIP adaptor with death domain
death adaptor molecule RAIDD
death domain containing protein CRADD

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_032159.2 RefSeqGene

    Range
    5001..178382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320099.1NP_001307028.1  death domain-containing protein CRADD isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AA150833, AC012085, AK294986, BC037905
    Consensus CDS
    CCDS9048.1
    UniProtKB/Swiss-Prot
    P78560
    UniProtKB/TrEMBL
    Q53XL1, Q8IY43
    Related
    ENSP00000439068.2, ENST00000542893.2
    Conserved Domains (2) summary
    cd08319
    Location:116198
    Death_RAIDD; Death domain of RIP-associated ICH-1 homologous protein with a death domain
    cd08327
    Location:194
    CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain
  2. NM_001320100.1NP_001307029.1  death domain-containing protein CRADD isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AK294986, AK296225, HY113325
    Consensus CDS
    CCDS81722.1
    UniProtKB/Swiss-Prot
    P78560
    UniProtKB/TrEMBL
    B4DJT6, F5H7C2
    Related
    ENSP00000448685.1, ENST00000548483.5
    Conserved Domains (1) summary
    cd08327
    Location:194
    CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain
  3. NM_001320101.2NP_001307030.1  death domain-containing protein CRADD isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (3) has a distinct, shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AI417529, AI791547, AK294986, HY113325
    Consensus CDS
    CCDS81720.1
    UniProtKB/Swiss-Prot
    P78560
    UniProtKB/TrEMBL
    F8VV49
    Related
    ENSP00000449664.1, ENST00000552033.5
    Conserved Domains (1) summary
    cl14633
    Location:194
    DD; Death Domain Superfamily of protein-protein interaction domains
  4. NM_001330126.1NP_001317055.1  death domain-containing protein CRADD isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, 3' coding region and 3' UTR compared to variant 1. The encoded isoform (4) has a distinct, shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AI417529, AK314861, CD108947
    Consensus CDS
    CCDS81719.1
    UniProtKB/TrEMBL
    F8VVY5, Q53XL1
    Conserved Domains (1) summary
    cd08327
    Location:194
    CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain
  5. NM_003805.5NP_003796.1  death domain-containing protein CRADD isoform 1

    See identical proteins and their annotated locations for NP_003796.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AA150833, BC017042, HY113325
    Consensus CDS
    CCDS9048.1
    UniProtKB/Swiss-Prot
    P78560
    UniProtKB/TrEMBL
    Q53XL1
    Related
    ENSP00000327647.3, ENST00000332896.8
    Conserved Domains (2) summary
    cd08319
    Location:116198
    Death_RAIDD; Death domain of RIP-associated ICH-1 homologous protein with a death domain
    cd08327
    Location:194
    CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain

RNA

  1. NR_135147.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon and contains two alternate 3' exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK294986, HY113325

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    93677342..93894840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449252.1XP_024305020.1  death domain-containing protein CRADD isoform X1

    Related
    ENSP00000449570.1, ENST00000552983.5
    Conserved Domains (1) summary
    cd08327
    Location:194
    CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain
  2. XM_017020144.1XP_016875633.1  death domain-containing protein CRADD isoform X3

    UniProtKB/Swiss-Prot
    P78560
    Related
    ENSP00000448425.1, ENST00000551065.5
    Conserved Domains (1) summary
    cd08327
    Location:194
    CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain
  3. XM_017020143.2XP_016875632.1  death domain-containing protein CRADD isoform X2

  4. XM_017020145.1XP_016875634.1  death domain-containing protein CRADD isoform X4

RNA

  1. XR_001748908.1 RNA Sequence

  2. XR_001748910.1 RNA Sequence

  3. XR_001748909.1 RNA Sequence

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