RIMOC1

Summary

RIMOC1 (RAB7A interacting MON1-CCZ1 complex subunit 1, HGNC:27750) is a protein-coding gene on chromosome 5p13.1, encoding RAB7A-interacting MON1-CCZ1 complex subunit 1 (A6NDU8). Plays an important role in the removal of damaged mitochondria via mitophagy by controlling the stability and localization of RAB7A.

Involved in mitophagy. Located in cytosol and nucleoplasm.

Source: NCBI Gene 285636 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 19 total
• MANE Select transcript: NM_175921

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27750
Approved symbol	RIMOC1
Name	RAB7A interacting MON1-CCZ1 complex subunit 1
Location	5p13.1
Locus type	gene with protein product
Status	Approved
Aliases	LOC285636
Ensembl gene	ENSG00000205765
Ensembl biotype	protein_coding
OMIM	620266
Entrez	285636

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000381647, ENST00000505931, ENST00000509976, ENST00000851335, ENST00000851336, ENST00000949593

RefSeq mRNA: 1 — MANE Select: NM_175921 NM_175921

CCDS: CCDS34151

Canonical transcript exons

ENST00000381647 — 6 exons

Exon	Start	End
ENSE00001083805	41912069	41912183
ENSE00001253733	41917016	41921636
ENSE00002076516	41904344	41904467
ENSE00003494310	41911048	41911179
ENSE00003556917	41907736	41907842
ENSE00003644509	41909746	41909892

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 94.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.8779 / max 332.3969, expressed in 1802 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56267	18.9275	1801
56266	0.9505	673

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
esophagus squamous epithelium	UBERON:0006920	94.30	gold quality
upper arm skin	UBERON:0004263	94.06	gold quality
left ventricle myocardium	UBERON:0006566	93.25	gold quality
corpus epididymis	UBERON:0004359	93.24	gold quality
cauda epididymis	UBERON:0004360	93.01	gold quality
epithelial cell of pancreas	CL:0000083	92.77	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.60	silver quality
corpus callosum	UBERON:0002336	91.62	gold quality
medial globus pallidus	UBERON:0002477	91.57	gold quality
oviduct epithelium	UBERON:0004804	91.46	gold quality
buccal mucosa cell	CL:0002336	91.38	gold quality
globus pallidus	UBERON:0001875	90.88	gold quality
caput epididymis	UBERON:0004358	90.46	gold quality
lower lobe of lung	UBERON:0008949	90.39	gold quality
myocardium	UBERON:0002349	90.35	gold quality
palpebral conjunctiva	UBERON:0001812	90.10	gold quality
postcentral gyrus	UBERON:0002581	89.83	gold quality
tendon of biceps brachii	UBERON:0008188	89.60	gold quality
cartilage tissue	UBERON:0002418	89.52	gold quality
kidney epithelium	UBERON:0004819	89.50	silver quality
Brodmann (1909) area 46	UBERON:0006483	89.17	gold quality
amniotic fluid	UBERON:0000173	89.12	gold quality
parietal lobe	UBERON:0001872	89.10	gold quality
ileal mucosa	UBERON:0000331	88.98	gold quality
superior vestibular nucleus	UBERON:0007227	88.91	gold quality
medulla oblongata	UBERON:0001896	88.90	gold quality
seminal vesicle	UBERON:0000998	88.89	gold quality
calcaneal tendon	UBERON:0003701	88.79	gold quality
entorhinal cortex	UBERON:0002728	88.61	gold quality
subthalamic nucleus	UBERON:0001906	88.57	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

210 targeting RIMOC1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-548AN	99.97	70.91	2817
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AJ-3P	99.96	73.38	5345

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rimoc1	ENSDARG00000054777
mus_musculus	Rimoc1	ENSMUSG00000041935
rattus_norvegicus	Rimoc1	ENSRNOG00000052775

Protein

Protein identifiers

RAB7A-interacting MON1-CCZ1 complex subunit 1 — A6NDU8 (reviewed: A6NDU8)

Alternative names: UPF0600 protein C5orf51

All UniProt accessions (1): A6NDU8

UniProt curated annotations — full annotation on UniProt →

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 RAB7A by inhibiting its proteasomal degradation during mitophagy.

Subunit / interactions. Interacts with the MON1A-CCZ1B complex. Interacts with GDP-bound RAB7A and promotes its interaction with the MON1A-CCZ1B complex.

Subcellular location. Cytoplasm. Cytosol.

Similarity. Belongs to the RIMOC1 family.

RefSeq proteins (1): NP_787117* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037657	RIMC1	Family

Pfam: PF17716

UniProt features (4 total): initiator methionine 1, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NDU8-F1	86.18	0.66

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 181 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROAUTOPHAGY, MARTINEZ_RB1_TARGETS_DN, ACATTCC_MIR1_MIR206, GCM_NF2, CUI_TCF21_TARGETS_2_DN, ACEVEDO_LIVER_CANCER_UP, MARTINEZ_RB1_AND_TP53_TARGETS_UP, ISRE_01, GCM_RBM8A, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MARSON_BOUND_BY_E2F4_UNSTIMULATED, AR_Q6, GOBP_AUTOPHAGY_OF_MITOCHONDRION, GOBP_MITOPHAGY

GO Biological Process (2): mitophagy (GO:0000423), autophagy (GO:0006914)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
autophagy of mitochondrion	1
macroautophagy	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
binding	1
nuclear lumen	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

440 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RIMOC1	NKAPD1	Q6ZUT1	471
RIMOC1	TMPPE	Q6ZT21	447
RIMOC1	ATP7A	Q04656	439
RIMOC1	SLC12A9	Q9BXP2	413
RIMOC1	SLC12A2	P55011	406
RIMOC1	TBC1D17	Q9HA65	399
RIMOC1	RMC1	Q96DM3	397
RIMOC1	CCZ1B	P86790	371
RIMOC1	C1orf21	Q9H246	370
RIMOC1	SHF	Q7M4L6	366
RIMOC1	DNAI7	Q6TDU7	365
RIMOC1	CSRNP3	Q8WYN3	324
RIMOC1	STOX2	Q9P2F5	323
RIMOC1	TBC1D15	Q8TC07	315
RIMOC1	FBXO4	Q9UKT5	313

IntAct

26 interactions, top by confidence:

A	B	Type	Score
RIMOC1	SUOX	psi-mi:“MI:0915”(physical association)	0.560
LRFN4	RIMOC1	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
RIMOC1	SPMIP5	psi-mi:“MI:0915”(physical association)	0.400
TAFA3	FUOM	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
TACSTD2	RIMOC1	psi-mi:“MI:0914”(association)	0.350
MRM1	RIMOC1	psi-mi:“MI:0914”(association)	0.350
CD80	RIMOC1	psi-mi:“MI:0914”(association)	0.350
CXCR3	RIMOC1	psi-mi:“MI:0914”(association)	0.350
HTR1E	ESYT2	psi-mi:“MI:0914”(association)	0.350
NPTN	RIMOC1	psi-mi:“MI:0914”(association)	0.350
SCN2B	RIMOC1	psi-mi:“MI:0914”(association)	0.350
VSIG1	RIMOC1	psi-mi:“MI:0914”(association)	0.350
SLC27A1	RIMOC1	psi-mi:“MI:0914”(association)	0.350
SLC27A2	RIMOC1	psi-mi:“MI:0914”(association)	0.350
SLC30A4	ESYT2	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
CPAP	CNOT1	psi-mi:“MI:2364”(proximity)	0.270
SUOX	RIMOC1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (36): C5orf51 (Co-fractionation), C5orf51 (Proximity Label-MS), C5orf51 (Synthetic Lethality), C5orf51 (Affinity Capture-MS), C5orf51 (Affinity Capture-MS), C5orf51 (Affinity Capture-MS), C5orf51 (Affinity Capture-MS), C5orf51 (Two-hybrid), C5orf51 (Affinity Capture-MS), C5orf51 (Affinity Capture-MS), C5orf51 (Affinity Capture-MS), C5orf51 (Affinity Capture-MS), C5orf51 (Affinity Capture-MS), C10orf82 (Affinity Capture-MS), C5orf51 (Affinity Capture-MS)

ESM2 similar proteins: A0JM23, A2XK56, A4IIA7, A6NDU8, A6NFN9, A6NHR9, A7MBF6, B5X561, B8B5U8, B9F4I8, E9QHE3, F4HWE6, F4I4B6, F4IG73, F4JD14, F4JSE7, O17482, P40105, Q08AW4, Q0WL81, Q12789, Q29RL0, Q3MJ13, Q4R683, Q5RAX4, Q5RFQ4, Q63505, Q66J91, Q6AZT7, Q6P5D8, Q7XI73, Q7XZZ3, Q7Z494, Q80WG7, Q8BMD5, Q8BR90, Q8GW10, Q8K284, Q8LPQ5, Q8S3U9

Diamond homologs: A6NDU8, A8Y5U1, Q8BR90

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

19 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1122 predictions. Top by Δscore:

Variant	Effect	Δscore
5:41904473:G:GT	donor_gain	1.0000
5:41907731:TATA:T	acceptor_loss	1.0000
5:41907733:TA:T	acceptor_loss	1.0000
5:41907734:A:AG	acceptor_gain	1.0000
5:41907734:A:G	acceptor_loss	1.0000
5:41907735:G:GA	acceptor_gain	1.0000
5:41907735:GATC:G	acceptor_gain	1.0000
5:41907838:CACAG:C	donor_loss	1.0000
5:41907839:ACAG:A	donor_loss	1.0000
5:41907840:CAGG:C	donor_loss	1.0000
5:41907841:AG:A	donor_loss	1.0000
5:41907842:GG:G	donor_loss	1.0000
5:41907843:GTACT:G	donor_loss	1.0000
5:41907844:T:G	donor_loss	1.0000
5:41909742:TTA:T	acceptor_loss	1.0000
5:41909743:TAG:T	acceptor_loss	1.0000
5:41909744:A:AC	acceptor_loss	1.0000
5:41909744:A:AG	acceptor_gain	1.0000
5:41909744:AG:A	acceptor_gain	1.0000
5:41909745:G:GT	acceptor_gain	1.0000
5:41909745:GG:G	acceptor_gain	1.0000
5:41909745:GGC:G	acceptor_gain	1.0000
5:41909745:GGCT:G	acceptor_gain	1.0000
5:41909745:GGCTA:G	acceptor_gain	1.0000
5:41909820:GAAA:G	donor_gain	1.0000
5:41909821:A:T	donor_gain	1.0000
5:41909824:G:GG	donor_gain	1.0000
5:41909873:A:T	donor_gain	1.0000
5:41909889:AAAA:A	donor_gain	1.0000
5:41909890:AAA:A	donor_gain	1.0000

AlphaMissense

1926 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:41911090:T:A	W133R	1.000
5:41911090:T:C	W133R	1.000
5:41911092:G:C	W133C	1.000
5:41911092:G:T	W133C	1.000
5:41909783:T:C	L82P	0.999
5:41909797:T:C	F87L	0.999
5:41909799:T:A	F87L	0.999
5:41909799:T:G	F87L	0.999
5:41911094:G:C	R134T	0.999
5:41911094:G:T	R134I	0.999
5:41911095:A:C	R134S	0.999
5:41911095:A:T	R134S	0.999
5:41911099:G:A	G136R	0.999
5:41911099:G:C	G136R	0.999
5:41911100:G:A	G136E	0.999
5:41917243:T:A	W277R	0.999
5:41917243:T:C	W277R	0.999
5:41909764:T:G	Y76D	0.998
5:41909798:T:C	F87S	0.998
5:41911091:G:C	W133S	0.998
5:41911106:T:C	L138P	0.998
5:41911116:G:A	M141I	0.998
5:41911116:G:C	M141I	0.998
5:41911116:G:T	M141I	0.998
5:41912081:G:A	G167R	0.998
5:41912081:G:C	G167R	0.998
5:41912082:G:A	G167E	0.998
5:41917024:A:C	S204R	0.998
5:41917026:T:A	S204R	0.998
5:41917026:T:G	S204R	0.998

dbSNP variants (sampled 300 via entrez): RS1000013583 (5:41914724 C>T), RS1000562769 (5:41919651 G>T), RS1000673912 (5:41917620 T>C), RS1000680739 (5:41917894 C>A,T), RS1000733520 (5:41910564 T>A,G), RS1000902487 (5:41913386 A>G), RS1001222581 (5:41908638 CAG>C), RS1001450424 (5:41915292 A>C), RS1001515724 (5:41918347 C>A), RS1001648949 (5:41911300 A>G), RS1002024080 (5:41910925 T>A), RS1002038399 (5:41904303 C>A,T), RS1002278845 (5:41907077 CAG>C), RS1002303503 (5:41906746 T>C), RS1002707707 (5:41907451 C>A)

Disease associations

OMIM: gene MIM:620266 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, increases abundance	2
sodium arsenite	increases abundance, increases expression, affects cotreatment	1
perfluorooctane sulfonic acid	decreases expression	1
eprenetapopt	affects expression, affects reaction	1
jinfukang	decreases expression	1
Temozolomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	decreases expression	1
Coal	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1
Nickel	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1LT	Abcam HeLa C5orf51 KO	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.