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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

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