BTBD1 (BTB domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
15q25.2
LOCUSID
ALIAS
C15orf1,NS5ATP8
FUSION GENES

Other Information

Locus ID:

NCBI: 53339
MIM: 608530
HGNC: 1120
Ensembl: ENSG00000064726

Variants:

dbSNP: 53339
ClinVar: 53339
TCGA: ENSG00000064726
COSMIC: BTBD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000064726ENST00000261721Q9H0C5
ENSG00000064726ENST00000261721A0A024R224
ENSG00000064726ENST00000379403Q9H0C5
ENSG00000064726ENST00000559652H0YL89

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
128781612003BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta.45
154865632004The topoisomerase 1-interacting protein BTBD1 is essential for muscle cell differentiation.6
210921352010Human TOP1 residues implicated in species specificity of HIV-1 infection are required for interaction with BTBD2, and RNAi of BTBD2 in old world monkey and human cells increases permissiveness to HIV-1 infection.2

Citation

Dessen P

BTBD1 (BTB domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60822/btbd1