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

    Gene ID: 51643, updated on 17-Jun-2024

    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, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 40.4), testis (RPKM 37.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TMBIM4 in Genome Data Viewer
    Location:
    12q14.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (66135846..66169996, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (66115352..66149503, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 6611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6612 Neighboring gene LLP homolog, long-term synaptic facilitation factor Neighboring gene LLPH divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6613 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:66563510-66564034 Neighboring gene MPRA-validated peak1773 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:66568604-66568806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4636 Neighboring gene interleukin 1 receptor associated kinase 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:66616545-66617046 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:66617047-66617546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4637 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

    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 locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001282606.2NP_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:6283
      GAAP_like; Golgi antiapoptotic protein
    2. NM_001282609.2NP_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:6155
      BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family
    3. NM_001282610.2NP_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: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
      Q542Z6, Q9HC24, Q9UHY5, Q9Y3C2
      UniProtKB/TrEMBL
      Q9NZZ2
      Related
      ENSP00000350965.3, ENST00000358230.8
      Conserved Domains (1) summary
      cd10429
      Location:6236
      GAAP_like; Golgi antiapoptotic protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      66135846..66169996 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      66115352..66149503 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)