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TMBIM6 transmembrane BAX inhibitor motif containing 6 [ Homo sapiens (human) ]

Gene ID: 7009, updated on 7-Jun-2020

Summary

Official Symbol
TMBIM6provided by HGNC
Official Full Name
transmembrane BAX inhibitor motif containing 6provided by HGNC
Primary source
HGNC:HGNC:11723
See related
Ensembl:ENSG00000139644 MIM:600748
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
BI-1; TEGT; BAXI1
Expression
Ubiquitous expression in kidney (RPKM 392.9), liver (RPKM 352.7) and 25 other tissues See more
Orthologs

Genomic context

See TMBIM6 in Genome Data Viewer
Location:
12q13.12
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (49741557..49764934)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50135293..50158717)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pre-mRNA processing factor 40 homolog B Neighboring gene formin like 3 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 5 Neighboring gene LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 2 Neighboring gene NCK associated protein 5 like Neighboring gene nuclear-encoded mitochondrial tRNA-Gln (TTG) 6-1

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endoribonuclease inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
cellular response to unfolded protein IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
 
negative regulation of RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of calcium ion transport into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endoribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of immunoglobulin secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
 
response to L-glutamate IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
bax inhibitor 1
Names
testis enhanced gene transcript
testis-enhanced gene transcript protein
transmembrane BAX inhibitor motif-containing protein 6

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_001098576.1NP_001092046.1  bax inhibitor 1 isoform 2

    See identical proteins and their annotated locations for NP_001092046.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different segment for the 5' UTR and 5' coding region, compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct N-terminus when it is compared to isoform 1.
    Source sequence(s)
    AA057740, BC036203, DC319835, DC349385
    Consensus CDS
    CCDS44875.1
    UniProtKB/Swiss-Prot
    P55061
    Related
    ENSP00000389277.1, ENST00000423828.5
    Conserved Domains (1) summary
    cd10430
    Location:74286
    BI-1; BAX inhibitor (BI)-1
  2. NM_003217.3NP_003208.2  bax inhibitor 1 isoform 1

    See identical proteins and their annotated locations for NP_003208.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and it encodes the shorter protein (isoform 1).
    Source sequence(s)
    AA057740, AK130050, BQ613936
    Consensus CDS
    CCDS31797.1
    UniProtKB/Swiss-Prot
    P55061
    UniProtKB/TrEMBL
    A0A024R0Z5
    Related
    ENSP00000267115.5, ENST00000267115.10
    Conserved Domains (1) summary
    cd10430
    Location:16228
    BI-1; BAX inhibitor (BI)-1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    49741557..49764934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269126.4XP_005269183.1  bax inhibitor 1 isoform X1

    See identical proteins and their annotated locations for XP_005269183.1

    UniProtKB/Swiss-Prot
    P55061
    Related
    ENSP00000446734.1, ENST00000552699.5
    Conserved Domains (1) summary
    cd10430
    Location:74286
    BI-1; BAX inhibitor (BI)-1
  2. XM_024449172.1XP_024304940.1  bax inhibitor 1 isoform X2

    Conserved Domains (1) summary
    cd10430
    Location:16228
    BI-1; BAX inhibitor (BI)-1
  3. XM_024449173.1XP_024304941.1  bax inhibitor 1 isoform X2

    Conserved Domains (1) summary
    cd10430
    Location:16228
    BI-1; BAX inhibitor (BI)-1
  4. XM_024449169.1XP_024304937.1  bax inhibitor 1 isoform X2

    Related
    ENSP00000378454.4, ENST00000395006.8
    Conserved Domains (1) summary
    cd10430
    Location:16228
    BI-1; BAX inhibitor (BI)-1
  5. XM_024449171.1XP_024304939.1  bax inhibitor 1 isoform X2

    Conserved Domains (1) summary
    cd10430
    Location:16228
    BI-1; BAX inhibitor (BI)-1
  6. XM_024449170.1XP_024304938.1  bax inhibitor 1 isoform X2

    Conserved Domains (1) summary
    cd10430
    Location:16228
    BI-1; BAX inhibitor (BI)-1
  7. XM_024449174.1XP_024304942.1  bax inhibitor 1 isoform X2

    Related
    ENSP00000450158.2, ENST00000552370.5
    Conserved Domains (1) summary
    cd10430
    Location:16228
    BI-1; BAX inhibitor (BI)-1
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