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TMBIM4 transmembrane BAX inhibitor motif containing 4 [ Homo sapiens (human) ]

Gene ID: 51643, updated on 26-Nov-2021

Summary

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Official Symbol
TMBIM4provided by HGNC
Official Full Name
transmembrane BAX inhibitor motif containing 4provided by HGNC
Primary source
HGNC:HGNC:24257
See related
Ensembl:ENSG00000155957 MIM:616874
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
S1R; GAAP; LFG4; ZPRO; CGI-119
Expression
Ubiquitous expression in thyroid (RPKM 40.4), testis (RPKM 37.8) and 25 other tissues See more
Orthologs
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Genomic context

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See TMBIM4 in Genome Data Viewer
Location:
12q14.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (66135846..66169996, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (66529626..66563776, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LLP homolog, long-term synaptic facilitation factor Neighboring gene LLPH divergent transcript Neighboring gene interleukin 1 receptor associated kinase 3 Neighboring gene RNA binding motif single stranded interacting protein 1 pseudogene 1 Neighboring gene microRNA 6502

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Stimulation of cell invasion by the Golgi Ion Channel GAAP/TMBIM4 via an H2O2-Dependent Mechanism. Almeida N, et al. Redox Biol, 2020 Jan. PMID 31693977, Free PMC Article
  2. Golgi anti-apoptotic protein: a tale of camels, calcium, channels and cancer. Carrara G, et al. Open Biol, 2017 May. PMID 28469007, Free PMC Article
  3. Human and viral Golgi anti-apoptotic proteins (GAAPs) oligomerize via different mechanisms and monomeric GAAP inhibits apoptosis and modulates calcium. Saraiva N, et al. J Biol Chem, 2013 May 3. PMID 23508950, Free PMC Article
  4. hGAAP promotes cell adhesion and migration via the stimulation of store-operated Ca2+ entry and calpain 2. Saraiva N, et al. J Cell Biol, 2013 Aug 19. PMID 23940116, Free PMC Article
  5. Host cell Golgi anti-apoptotic protein (GAAP) and growth of Chlamydia pneumoniae. Markkula E, et al. Microb Pathog, 2013 Jan. PMID 23000903

See all (22) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Stimulation of cell invasion by the Golgi Ion Channel GAAP/TMBIM4 via an H2O2-Dependent Mechanism.
    Title: Stimulation of cell invasion by the Golgi Ion Channel GAAP/TMBIM4 via an H<sub>2</sub>O<sub>2</sub>-Dependent Mechanism.
  2. Residues contributing to the ion-conducting pore have been defined and provide the first clues about the mechanistic link between these very different functions of golgi anti-apoptotic protein (GAAP) [review].
    Title: Golgi anti-apoptotic protein: a tale of camels, calcium, channels and cancer.
  3. These results suggest that the TMBIM family has comparable functions in the maintenance of intracellular Ca(2) homeostasis in a wide variety of tissues
    Title: The transmembrane Bax inhibitor motif (TMBIM) containing protein family: Tissue expression, intracellular localization and effects on the ER CA²⁺-filling state.
  4. The hGAAP is a novel regulator of focal adhesion dynamics, cell adhesion, and migration by controlling localized Ca(2+)-dependent activation of calpain.
    Title: hGAAP promotes cell adhesion and migration via the stimulation of store-operated Ca2+ entry and calpain 2.
  5. GAAP can oligomerize in a pH-regulated manner, and monomeric GAAP is functional.
    Title: Human and viral Golgi anti-apoptotic proteins (GAAPs) oligomerize via different mechanisms and monomeric GAAP inhibits apoptosis and modulates calcium.
  6. Taken together, the proposed interaction between Chlamydia pneumoniae protein CPn0809 and GAAP modulates bacterial growth in A549 cells.
    Title: Host cell Golgi anti-apoptotic protein (GAAP) and growth of Chlamydia pneumoniae.
  7. Data indicate that GAAP and BI-1 have a six membrane-spanning topology with cytosolic N and C termini and a C-terminal reentrant loop.
    Title: Six-transmembrane topology for Golgi anti-apoptotic protein (GAAP) and Bax inhibitor 1 (BI-1) provides model for the transmembrane Bax inhibitor-containing motif (TMBIM) family.
  8. Data demonstrate that h-GAAP modulates intracellular Ca(2+) fluxes induced by both physiological and apoptotic stimuli.
    Title: Human Golgi antiapoptotic protein modulates intracellular calcium fluxes.
  9. The tmbim4 may participate in cell death regulation by interacting with proteins of Bcl-2 family, promoting tumor metastasis, which is deduced from the evolutionary conservation of the membrane protein family containing multiple membrane spanning segments
    Title: Comparative genomics and function analysis on BI1 family.
  10. Stable expression of both viral GAAP (v-GAAP) and human GAAP (h-GAAP), which is expressed in all human tissues tested, inhibited apoptosis induced by intrinsic and extrinsic apoptotic stimuli
    Title: A new inhibitor of apoptosis from vaccinia virus and eukaryotes.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: LLPH

Homology

Clone Names

  • FLJ45352

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of calcium-mediated signaling IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi stack IDA
Inferred from Direct Assay
more info
 PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
protein lifeguard 4
Names
Golgi anti-apoptotic protein
Z-protein
transmembrane BAX inhibitor motif-containing protein 4

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_001282606.2 → NP_001269535.1  protein lifeguard 4 isoform a

    See identical proteins and their annotated locations for NP_001269535.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and enocdes the longest isoform (a).
    Source sequence(s)
    AC078927
    Consensus CDS
    CCDS61187.1
    UniProtKB/Swiss-Prot
    Q9HC24
    UniProtKB/TrEMBL
    G3XAA5, Q9HC19
    Related
    ENSP00000286424.9, ENST00000286424.12
    Conserved Domains (1) summary
    cd10429
    Location:6 → 283
    GAAP_like; Golgi antiapoptotic protein

  2. NM_001282609.2 → NP_001269538.1  protein lifeguard 4 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC078927
    Consensus CDS
    CCDS81710.1
    UniProtKB/Swiss-Prot
    Q9HC24
    UniProtKB/TrEMBL
    G3V1M2
    Related
    ENSP00000441291.2, ENST00000542724.5
    Conserved Domains (1) summary
    cl00473
    Location:6 → 155
    BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family

  3. NM_001282610.2 → NP_001269539.1  protein lifeguard 4 isoform d

    See identical proteins and their annotated locations for NP_001269539.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region which results in the use of an alternate translational start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC078927
    UniProtKB/Swiss-Prot
    Q9HC24
    UniProtKB/TrEMBL
    Q7Z782
    Conserved Domains (1) summary
    cl00473
    Location:15 → 205
    BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family

  4. NM_016056.4 → NP_057140.2  protein lifeguard 4 isoform b

    See identical proteins and their annotated locations for NP_057140.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to vairant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AC078927
    Consensus CDS
    CCDS41805.1
    UniProtKB/Swiss-Prot
    Q9HC24
    Related
    ENSP00000350965.3, ENST00000358230.8
    Conserved Domains (1) summary
    cd10429
    Location:6 → 236
    GAAP_like; Golgi antiapoptotic protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    66135846..66169996 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HC24.3 GenPept UniProtKB/Swiss-Prot:Q9HC24

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