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

Summary

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; AllianceGenome:HGNC:24257
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
Summary: Involved in negative regulation of apoptotic process and regulation of calcium-mediated signaling. Located in Golgi stack. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in thyroid (RPKM 40.4), testis (RPKM 37.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q14.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (66135846..66169996, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (66115352..66149503, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (66529626..66563776, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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(2)O(2)-Dependent Mechanism.
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.
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.
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.
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.
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.
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.
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.
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.
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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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S2109 (e-PCR)
- UniSTS:77334

RH17552 (e-PCR)
- UniSTS:78293

SHGC-30825 (e-PCR)
- UniSTS:82138

G65712 (e-PCR)
- UniSTS:225511

RH78838 (e-PCR)
- UniSTS:50680

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
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 endoplasmic reticulum unfolded protein response	IBA Inferred from Biological aspect of Ancestor more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
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
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

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)

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/TrEMBL

A0A0J9YXA5, G3XAA5, Q9HC19

Related

ENSP00000286424.9, ENST00000286424.12

Conserved Domains (1) summary

cd10429
Location:6 → 283

GAAP_like; Golgi antiapoptotic protein
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/TrEMBL

E7EWY5, 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
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
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

Q542Z6, Q9HC24, Q9UHY5, Q9Y3C2

UniProtKB/TrEMBL

Q9NZZ2

Related

ENSP00000350965.3, ENST00000358230.8

Conserved Domains (1) summary

cd10429
Location:6 → 236

GAAP_like; Golgi antiapoptotic protein