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    Ghitm growth hormone inducible transmembrane protein [ Mus musculus (house mouse) ]

    Gene ID: 66092, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Ghitmprovided by MGI
    Official Full Name
    growth hormone inducible transmembrane proteinprovided by MGI
    Primary source
    MGI:MGI:1913342
    See related
    Ensembl:ENSMUSG00000041028 AllianceGenome:MGI:1913342
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MICS1; PTD010; Tmbim5; 1010001P14Rik
    Summary
    Predicted to be involved in inner mitochondrial membrane organization and negative regulation of release of cytochrome c from mitochondria. Predicted to act upstream of or within apoptotic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Orthologous to human GHITM (growth hormone inducible transmembrane protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart adult (RPKM 84.7), kidney adult (RPKM 74.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    14 B; 14 21.29 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (36842401..36857279, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (37120444..37135322, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene cadherin-related family member 1 Neighboring gene G protein coupled receptor 15 ligand Neighboring gene STARR-positive B cell enhancer ABC_E751 Neighboring gene STARR-seq mESC enhancer starr_36423 Neighboring gene STARR-seq mESC enhancer starr_36424 Neighboring gene predicted gene, 18834 Neighboring gene predicted gene, 22469

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy. Zhang L, et al. Life Sci Alliance, 2022 Oct. PMID 35715207, Free PMC Article
    2. Ghitm is an ortholog of the Bombyx mori prothoracic gland-derived receptor (Pgdr) that is ubiquitously expressed in mammalian cells and requires an N-terminal signal sequence for expression. Yoshida T, et al. Biochem Biophys Res Commun, 2006 Mar 3. PMID 16412389
    3. Identification, isolation, and cloning of growth hormone (GH)-inducible interscapular brown adipose complementary deoxyribonucleic acid from GH antagonist mice. Li Y, et al. Endocrinology, 2001 Jul. PMID 11416014
    4. Microarray analysis of Foxa2 mutant mouse embryos reveals novel gene expression and inductive roles for the gastrula organizer and its derivatives. Tamplin OJ, et al. BMC Genomics, 2008 Oct 30. PMID 18973680, Free PMC Article
    5. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. Murn J, et al. Genes Dev, 2015 Mar 1. PMID 25737280, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium:proton antiporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium export from the mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in inner mitochondrial membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in inner mitochondrial membrane organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial calcium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial potassium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of release of cytochrome c from mitochondria ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    growth hormone-inducible transmembrane protein
    Names
    mitochondrial morphology and cristae structure 1

    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_001199122.1 → NP_001186051.1  growth hormone-inducible transmembrane protein

      See identical proteins and their annotated locations for NP_001186051.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK149244, AK168678
      Consensus CDS
      CCDS26953.1
      UniProtKB/Swiss-Prot
      Q3TGB7, Q3UA74, Q8N9T5, Q91VC9
      Related
      ENSMUSP00000046212.10, ENSMUST00000042564.17
      Conserved Domains (1) summary
      cd10431
      Location:82 → 345
      GHITM; Growth-hormone inducible transmembrane protein

    2. NM_001359902.1 → NP_001346831.1  growth hormone-inducible transmembrane protein

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK149244, AK158904, CN530092, CO043730
      Consensus CDS
      CCDS26953.1
      UniProtKB/Swiss-Prot
      Q3TGB7, Q3UA74, Q8N9T5, Q91VC9
      Conserved Domains (1) summary
      cd10431
      Location:82 → 345
      GHITM; Growth-hormone inducible transmembrane protein

    3. NM_078478.5 → NP_510963.1  growth hormone-inducible transmembrane protein

      See identical proteins and their annotated locations for NP_510963.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK149244, AK158904, BY141813
      Consensus CDS
      CCDS26953.1
      UniProtKB/Swiss-Prot
      Q3TGB7, Q3UA74, Q8N9T5, Q91VC9
      Related
      ENSMUSP00000129712.3, ENSMUST00000165649.4
      Conserved Domains (1) summary
      cd10431
      Location:82 → 345
      GHITM; Growth-hormone inducible transmembrane protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      36842401..36857279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91VC9.1 GenPept UniProtKB/Swiss-Prot:Q91VC9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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