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

Gene ID: 51643, updated on 7-Jun-2020

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
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

Genomic context

See TMBIM4 in Genome Data Viewer
Location:
12q14.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (66135846..66170072, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (66530717..66563808, 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

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

Potential readthrough

Included gene: LLPH

Homology

Clone Names

  • FLJ45352

Gene Ontology Provided by GOA

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

General protein information

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

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_001282606.1NP_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)
    AF113127, AF182414, AK225158, BC020613, BM989676, DC361259
    Consensus CDS
    CCDS61187.1
    UniProtKB/Swiss-Prot
    Q9HC24
    UniProtKB/TrEMBL
    G3XAA5, Q9HC19
    Related
    ENSP00000286424.9, ENST00000286424.12
    Conserved Domains (1) summary
    cd10429
    Location:6283
    GAAP_like; Golgi antiapoptotic protein
  2. NM_001282609.1NP_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)
    AF113127, AK225158, BC052273, BM989676, DC361259
    Consensus CDS
    CCDS81710.1
    UniProtKB/Swiss-Prot
    Q9HC24
    UniProtKB/TrEMBL
    G3V1M2
    Related
    ENSP00000441291.2, ENST00000542724.5
    Conserved Domains (1) summary
    cl00473
    Location:6155
    BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family
  3. NM_001282610.1NP_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)
    AF113127, AK225158, BC004401, BM989676, DC361259
    UniProtKB/Swiss-Prot
    Q9HC24
    UniProtKB/TrEMBL
    Q7Z782
    Conserved Domains (1) summary
    cl00473
    Location:15205
    BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family
  4. NM_016056.4NP_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, ENST00000358230.7
    Conserved Domains (1) summary
    cd10429
    Location:6236
    GAAP_like; Golgi antiapoptotic protein

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
    66135846..66170072 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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