RIMOC1 (RAB7A interacting MON1-CCZ1 complex subunit 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 285636
Gene name RAB7A interacting MON1-CCZ1 complex subunit 1
Gene symbol RIMOC1
Synonyms (NCBI Gene)
C5orf51
Chromosome 5
Chromosome location 5p13.1
miRNA miRNA information provided by mirtarbase database.
2369 Show/Hide all (2369)
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miRTarBase ID miRNA Experiments Reference
MIRT041684 hsa-miR-484 CLASH 23622248
MIRT122069 hsa-miR-548e-5p HITS-CLIP 23313552
MIRT705045 hsa-miR-3129-3p HITS-CLIP 23313552
MIRT705044 hsa-miR-5583-5p HITS-CLIP 23313552
MIRT705043 hsa-miR-3184-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
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GO ID Ontology Definition Evidence Reference
GO:0000423 Process Mitophagy IEA
GO:0000423 Process Mitophagy IMP 34432599
GO:0005515 Function Protein binding IPI 32296183, 34432599
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
620266 27750 ENSG00000205765
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NDU8
Protein name RAB7A-interacting MON1-CCZ1 complex subunit 1 (UPF0600 protein C5orf51)
Protein function Plays an important role in the removal of damaged mitochondria via mitophagy by controlling the stability and localization of RAB7A. Required for the recruitment of RAB7A and ATG9A vesicles to damaged mitochondria and promotes the stability of R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17716 DUF5561 36 → 290 Family of unknown function (DUF5561) Family
Sequence 
MAAAVSSVVRRVEELGDLAQAHIQQLSEAAGEDDHFLIRASAALEKLKLLCGEEKECSNP
SNLLELYTQAILDMTYFEENKLVDEDFPEDSSSQKVKELISFLSEPEILVKENNMHPKHC
NLLGDELLECLSWRRGALLYMYCHSLTKRREWLLRKSSLLKKYLLDGISYLLQMLNYRCP
IQLNEGVSFQDLDTAKLLSAGIFSDIHLLAMMYSGEMCYWGSKYCADQQPENHEVDTSVS
GAGCTTYKEPLDFREVGEKILKKYVSVCEGPLKEQEWNTTNAKQILNFFHHRCN
Sequence length 294
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
OCULAR HYPERTENSION — GWAS catalog 36222912
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for RIMOC1.

No additional diseases found yet through genes similar to RIMOC1.