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

Gene ID: 64114, updated on 17-Jun-2019

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
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
Expression
Ubiquitous expression in esophagus (RPKM 69.4), fat (RPKM 68.5) and 25 other tissues See more
Orthologs

Genomic context

See TMBIM1 in Genome Data Viewer
Location:
2q35
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (218274192..218292577, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219138917..219157280, 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 CATIP antisense RNA 2 Neighboring gene microRNA 6810

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
death receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
negative regulation of Fas signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of blood vessel remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal membrane HDA PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
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)

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_001321427.1NP_001308356.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016, AK090618, AK093911, CA436747
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1
    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_001321428.1NP_001308357.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016, AK093911, BC013428, CA436747
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1
    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_001321429.1NP_001308358.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016, AK093911, BC013428, CA436747
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1
    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_001321430.1NP_001308359.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016, AK093911, BC013428, CA436747
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1
    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_001321432.1NP_001308361.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016, AK093911, BC013428, CA436747
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1
    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_001321433.1NP_001308362.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016, AK093911, BC013428, CA436747
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1
    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_001321435.1NP_001308364.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016, AK093911, BC013428, CA436747
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1
    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_001321436.1NP_001308365.1  protein lifeguard 3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC021016, AK093911, BC013428, CA436747
    Consensus CDS
    CCDS2412.1
    UniProtKB/Swiss-Prot
    Q969X1
    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_001321438.1NP_001308367.1  protein lifeguard 3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC021016, AK093911, AK300597, BP335035, CA436747
    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
    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_135643.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK093911, AK298500, BP335035, CA436747

RefSeqs of Annotated Genomes: Homo sapiens 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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    218274192..218292577 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511627.1XP_011509929.1  protein lifeguard 3 isoform X1

    See identical proteins and their annotated locations for XP_011509929.1

    UniProtKB/Swiss-Prot
    Q969X1
    UniProtKB/TrEMBL
    A0A024R472
    Conserved Domains (1) summary
    cd10428
    Location:89308
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
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