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TRAFD1 TRAF-type zinc finger domain containing 1 [ Homo sapiens (human) ]

Gene ID: 10906, updated on 11-Sep-2019

Summary

Official Symbol
TRAFD1provided by HGNC
Official Full Name
TRAF-type zinc finger domain containing 1provided by HGNC
Primary source
HGNC:HGNC:24808
See related
Ensembl:ENSG00000135148 MIM:613197
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
Also known as
FLN29
Summary
The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009]
Expression
Ubiquitous expression in testis (RPKM 18.8), lymph node (RPKM 16.4) and 25 other tissues See more
Orthologs

Genomic context

See TRAFD1 in Genome Data Viewer
Location:
12q24.13
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (112125545..112153604)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112563349..112591408)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene endoplasmic reticulum protein 29 Neighboring gene N(alpha)-acetyltransferase 25, NatB auxiliary subunit Neighboring gene microRNA 3657 Neighboring gene Sharpr-MPRA regulatory region 5940 Neighboring gene microRNA 6861 Neighboring gene HECT domain E3 ubiquitin protein ligase 4 Neighboring gene RN7SK pseudogene 71

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 study of 14,000 cases of seven common diseases and 3,000 shared controls.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of innate immune response ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
TRAF-type zinc finger domain-containing protein 1
Names
FLN29 gene product

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_001143906.1NP_001137378.1  TRAF-type zinc finger domain-containing protein 1

    See identical proteins and their annotated locations for NP_001137378.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK122620, AK312601, BC003553, BG828961, CA314188
    Consensus CDS
    CCDS9160.1
    UniProtKB/Swiss-Prot
    O14545
    UniProtKB/TrEMBL
    A0A024RBK4
    Related
    ENSP00000257604.5, ENST00000257604.9
    Conserved Domains (2) summary
    cl26464
    Location:406543
    Atrophin-1; Atrophin-1 family
    cl27293
    Location:7131
    UFD1; Ubiquitin fusion degradation protein UFD1
  2. NM_006700.3NP_006691.1  TRAF-type zinc finger domain-containing protein 1

    See identical proteins and their annotated locations for NP_006691.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK312601, BC003553, CA314188
    Consensus CDS
    CCDS9160.1
    UniProtKB/Swiss-Prot
    O14545
    UniProtKB/TrEMBL
    A0A024RBK4
    Related
    ENSP00000396526.2, ENST00000412615.7
    Conserved Domains (2) summary
    cl26464
    Location:406543
    Atrophin-1; Atrophin-1 family
    cl27293
    Location:7131
    UFD1; Ubiquitin fusion degradation protein UFD1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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
    112125545..112153604
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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