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

Gene ID: 285636, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 9.5), brain (RPKM 9.2) and 25 other tissues See more
Orthologs
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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

Gene LinkOut

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

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