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    RIMOC1 RAB7A interacting MON1-CCZ1 complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 285636, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RIMOC1provided by HGNC
    Official Full Name
    RAB7A interacting MON1-CCZ1 complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:27750
    See related
    Ensembl:ENSG00000205765 MIM:620266; AllianceGenome:HGNC:27750
    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
    C5orf51
    Summary
    Involved in mitophagy. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.5), brain (RPKM 9.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RIMOC1 in Genome Data Viewer
    Location:
    5p13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (41904344..41921636)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (42160750..42178038)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (41904446..41921738)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene 3-oxoacid CoA-transferase 1 Neighboring gene uncharacterized LOC102723752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22507 Neighboring gene OXCT1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22508 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:41904130-41904676 Neighboring gene ribosomal protein S2 pseudogene 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22510 Neighboring gene zinc finger protein 626 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15986 Neighboring gene Sharpr-MPRA regulatory region 10845 Neighboring gene F-box protein 4 Neighboring gene ribosomal protein SA pseudogene 38 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Endosomal Rab cycles regulate Parkin-mediated mitophagy. Yamano K, et al. Elife, 2018 Jan 23. PMID 29360040, Free PMC Article
    2. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022
    3. Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint. Bailey ML, et al. Genetics, 2015 Nov. PMID 26354767, Free PMC Article
    4. Interactome profiling reveals interaction of SARS-CoV-2 NSP13 with host factor STAT1 to suppress interferon signaling. Feng K, et al. J Mol Cell Biol, 2021 Dec 30. PMID 34687317, Free PMC Article
    5. C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy. Yan BR, et al. Autophagy, 2022 Apr. PMID 34432599, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    RAB7A-interacting MON1-CCZ1 complex subunit 1
    Names
    UPF0600 protein C5orf51

    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_175921.6 → NP_787117.3  RAB7A-interacting MON1-CCZ1 complex subunit 1

      See identical proteins and their annotated locations for NP_787117.3

      Status: VALIDATED

      Source sequence(s)
      AC034222, AL833916, BF439305, BQ272495, CN345108, HY116483
      Consensus CDS
      CCDS34151.1
      UniProtKB/Swiss-Prot
      A2RRM9, A6NDU8
      Related
      ENSP00000371061.2, ENST00000381647.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      41904344..41921636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514032.3 → XP_011512334.1  RAB7A-interacting MON1-CCZ1 complex subunit 1 isoform X1

    2. XM_005248289.5 → XP_005248346.1  RAB7A-interacting MON1-CCZ1 complex subunit 1 isoform X3

    3. XM_047417114.1 → XP_047273070.1  RAB7A-interacting MON1-CCZ1 complex subunit 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      42160750..42178038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352438.1 → XP_054208413.1  RAB7A-interacting MON1-CCZ1 complex subunit 1 isoform X1

    2. XM_054352440.1 → XP_054208415.1  RAB7A-interacting MON1-CCZ1 complex subunit 1 isoform X3

    3. XM_054352439.1 → XP_054208414.1  RAB7A-interacting MON1-CCZ1 complex subunit 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NDU8.1 GenPept UniProtKB/Swiss-Prot:A6NDU8

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