Alias (According to NCBI)
- D6S81E
- DEAD-box protein
- HLA-B associated transcript 1
- HLA-B associated transcript-1
- nuclear RNA helicase (DEAD family)
- Probable ATP-dependent RNA helicase p47 (HLA-B associated transcript- 1).
Description
(According to SwissProt)
- The protein encoded by this gene is a member of the DEAD protein family of ATP-dependent RNA helicases. Members of this family are involved in a number of cellular functions including initiation of translation, RNA splicing, and ribosome assembly. A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This protein is a negative regulator of inflammation. It is also thought to be a translation initiation factor. This gene is a strong candidate gene for rheumatoid arthritis. There are multiple alternatively spliced transcript variants known for this gene but only two have been fully described. Both of these variants encode the same isoform. This gene has been found to have multiple polyadenylation sites.
- Chromosomal location
(According to NCBI, CGH: progenetix)
- Location: 6p21.3
- Orientation: minus strand
- Size: 11928 bp
- 11 exons
- DNA sequence (Human): NC_000006
CGH (6p21.3): Losses (%) -1.1 Gain (%) 7.3 Amplifications 0.0
- HGMD:
- SNPs: BAT1
- Size: 428 amino acids; 48991 Da
- Catalytic activity:
Subcellular location: Nuclear.
Protein domains
Pathway:
Protein interactions:
- Tissue expression: PubMed Reference
- Human Protein Atlas (HPA): CAB034012
OMIM: 142560
PubMed: Early detection Diagnosis Prognosis Therapy