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    MGARP mitochondria localized glutamic acid rich protein [ Homo sapiens (human) ]

    Gene ID: 84709, updated on 17-Jun-2024

    Summary

    Official Symbol
    MGARPprovided by HGNC
    Official Full Name
    mitochondria localized glutamic acid rich proteinprovided by HGNC
    Primary source
    HGNC:HGNC:29969
    See related
    Ensembl:ENSG00000137463 MIM:619684; AllianceGenome:HGNC:29969
    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
    OSAP; HUMMR; CESP-1; C4orf49
    Summary
    Predicted to be involved in several processes, including axonal transport; cellular response to hormone stimulus; and protein targeting to mitochondrion. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in adrenal (RPKM 112.3) and ovary (RPKM 9.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MGARP in Genome Data Viewer
    Location:
    4q31.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (139266165..139280225, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (142585757..142599821, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (140187319..140201379, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379412 Neighboring gene RNA, U6 small nuclear 506, pseudogene Neighboring gene RNA, U6 small nuclear 1074, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:140187301-140188500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21921 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:140216745-140217308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21923 Neighboring gene NADH:ubiquinone oxidoreductase subunit C1 Neighboring gene N-alpha-acetyltransferase 15, NatA auxiliary subunit Neighboring gene RNA, U6 small nuclear 1214, pseudogene

    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: NDUFC1

    Clone Names

    • MGC125827, MGC125828

    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 anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in axon development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in axonal transport of mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to gonadotropin-releasing hormone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to steroid hormone stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of dendrite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein targeting to mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mitochondrion organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in retrograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein MGARP
    Names
    corneal endothelium-specific protein 1
    hypoxia up-regulated mitochondrial movement regulator protein
    ovary-specific acidic protein

    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_032623.4NP_116012.2  protein MGARP

      See identical proteins and their annotated locations for NP_116012.2

      Status: VALIDATED

      Source sequence(s)
      AF484960
      Consensus CDS
      CCDS43269.1
      UniProtKB/Swiss-Prot
      Q8TDB4, Q9BZC3
      Related
      ENSP00000381928.1, ENST00000398955.2
      Conserved Domains (1) summary
      pfam14962
      Location:1191
      AIF-MLS; Mitochondria localization Sequence

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      139266165..139280225 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      142585757..142599821 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)