1. Gene
  2. TMBIM6 - transmembrane BAX inhibitor motif containing 6 Gene

TMBIM6 - transmembrane BAX inhibitor motif containing 6 Gene

Homo sapiens

Also known as BI-1; TEGT; BAXI1

Gene ID: 7009 | Gene type: protein coding

About TMBIM6

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,741,557-49,764,934 (from NCBI)

This gene has 28 transcripts (splice variants), 251 orthologues and 5 paralogues. Ubiquitous expression in kidney (RPKM 392.9), liver (RPKM 352.7) and 25 other tissues.

Summary

Enables endoribonuclease inhibitor activity and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of RNA metabolic process; negative regulation of intrinsic apoptotic signaling pathway; and response to L-glutamate. Acts upstream of or within negative regulation of calcium ion transport into cytosol. Located in endoplasmic reticulum membrane and mitochondrial membrane. Biomarker of cervical squamous cell carcinoma and prostate carcinoma. [provided by Alliance of Genome Resources, Apr 2022]

TMBIM6 Products(2)

mRNA Protein Name
NM_001098576.2 NP_001092046.1 bax inhibitor 1 isoform 2
NM_003217.3 NP_003208.2 bax inhibitor 1 isoform 1

TMBIM6 Protein Structure

Bax1-I

Bax1-I: Inhibitor of apoptosis-promoting Bax1 (24 - 225)

  • 0
  • 100
  • 200
  • 237 a.a.
Protein Preferred Names Protein Names

bax inhibitor 1

testis enhanced gene transcript

Related Diseases

Diseases Alias
Chronic Congestive Splenomegaly
Hypoglycemia, Leucine-Induced

Leucine-Sensitive Hypoglycemia Of Infancy

Leucine-Induced Hypoglycemia

LIH

Hypoglycemia Of Infancy, Leucine-Sensitive

Familial Infantile Hypoglycemia Precipitated By Leucine

Hypoglycemia Leucine Induced

Hypoglycemia Leucine-Induced

Cervical Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Cervix Uteri

Squamous Cell Carcinoma Of Cervix

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus TMBIM6 VGNC VGNC:66233
Canis familiaris TMBIM6 VGNC VGNC:47419
Macaca mulatta TMBIM6 VGNC VGNC:107118
Bos taurus TMBIM6 VGNC VGNC:35916
Rattus norvegicus TMBIM6 RGD RGD:3842
Mus musculus TMBIM6 MGD MGI:99682