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TMBIM1 transmembrane BAX inhibitor motif containing 1 [ Homo sapiens (human) ]

Gene ID: 64114, updated on 6-Nov-2022

Summary

Official Symbol
TMBIM1provided by HGNC
Official Full Name
transmembrane BAX inhibitor motif containing 1provided by HGNC
Primary source
HGNC:HGNC:23410
See related
Ensembl:ENSG00000135926 MIM:610364; AllianceGenome:HGNC:23410
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
LFG3; RECS1; MST100; PP1201; MSTP100
Summary
Enables death receptor binding activity. Involved in negative regulation of Fas signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of protein localization to plasma membrane. Located in Golgi apparatus; endosome membrane; and lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in esophagus (RPKM 69.4), fat (RPKM 68.5) and 25 other tissues See more
Orthologs
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Genomic context

See TMBIM1 in Genome Data Viewer
Location:
2q35
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218274197..218292503, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (218759890..218778207, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219138920..219157226, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled bile acid receptor 1 Neighboring gene angio associated migratory cell protein Neighboring gene PNKD metallo-beta-lactamase domain containing Neighboring gene microRNA 6513 Neighboring gene uncharacterized LOC105373881 Neighboring gene uncharacterized LOC105373880 Neighboring gene small nucleolar RNA U13 Neighboring gene CATIP antisense RNA 2

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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables death receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in lysosomal membrane HDA PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in specific granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
protein lifeguard 3
Names
transmembrane BAX inhibitor motif-containing protein 1

NCBI Reference Sequences (RefSeq)

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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_001321427.2NP_001308356.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1, Q96K13
    UniProtKB/TrEMBL
    A0A024R472, B3KSM0
    Related
    ENSP00000409738.1, ENST00000444881.5
    Conserved Domains (1) summary
    cd10428
    Location:89308
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
  2. NM_001321428.2NP_001308357.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1, Q96K13
    UniProtKB/TrEMBL
    A0A024R472, B3KSM0
    Conserved Domains (1) summary
    cd10428
    Location:89308
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
  3. NM_001321429.2NP_001308358.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1, Q96K13
    UniProtKB/TrEMBL
    A0A024R472, B3KSM0
    Conserved Domains (1) summary
    cd10428
    Location:89308
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
  4. NM_001321430.2NP_001308359.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1, Q96K13
    UniProtKB/TrEMBL
    A0A024R472, B3KSM0
    Related
    ENSP00000380025.2, ENST00000396809.6
    Conserved Domains (1) summary
    cd10428
    Location:89308
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
  5. NM_001321432.2NP_001308361.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1, Q96K13
    UniProtKB/TrEMBL
    A0A024R472, B3KSM0
    Conserved Domains (1) summary
    cd10428
    Location:89308
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
  6. NM_001321433.2NP_001308362.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1, Q96K13
    UniProtKB/TrEMBL
    A0A024R472, B3KSM0
    Conserved Domains (1) summary
    cd10428
    Location:89308
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
  7. NM_001321435.2NP_001308364.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1, Q96K13
    UniProtKB/TrEMBL
    A0A024R472, B3KSM0
    Conserved Domains (1) summary
    cd10428
    Location:89308
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
  8. NM_001321436.2NP_001308365.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1, Q96K13
    UniProtKB/TrEMBL
    A0A024R472, B3KSM0
    Conserved Domains (1) summary
    cd10428
    Location:89308
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
  9. NM_001321438.2NP_001308367.1  protein lifeguard 3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC021016
    UniProtKB/TrEMBL
    B3KSM0, B4DUD2
    Conserved Domains (1) summary
    cd10428
    Location:13197
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
  10. NM_022152.6NP_071435.2  protein lifeguard 3 isoform 1

    See identical proteins and their annotated locations for NP_071435.2

    Status: VALIDATED

    Source sequence(s)
    AC021016
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1, Q96K13
    UniProtKB/TrEMBL
    A0A024R472, B3KSM0
    Related
    ENSP00000258412.3, ENST00000258412.8
    Conserved Domains (1) summary
    cd10428
    Location:89308
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis

RNA

  1. NR_135643.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC021016

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    218274197..218292503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    218759890..218778207 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)