RMC1 (regulator of MON1-CCZ1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 29919
Gene name Regulator of MON1-CCZ1
Gene symbol RMC1
Synonyms (NCBI Gene)
C18orf8HsT2591MIC1Mic-1WDR98
Chromosome 18
Chromosome location 18q11.2
Summary This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005765 Component Lysosomal membrane IEA
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620267 24326 ENSG00000141452
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DM3
Protein name Regulator of MON1-CCZ1 complex (Colon cancer-associated protein Mic1) (Mic-1) (WD repeat-containing protein 98)
Protein function Component of the CCZ1-MON1 RAB7A guanine exchange factor (GEF). Acts as a positive regulator of CCZ1-MON1A/B function necessary for endosomal/autophagic flux and efficient RAB7A localization (PubMed:29038162).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07035 Mic1 475 → 632 Colon cancer-associated protein Mic1-like Family
Sequence 
MGEEDYYLELCERPVQFEKANPVNCVFFDEANKQVFAVRSGGATGVVVKGPDDRNPISFR
MDDKGEVKCIKFSLENKILAVQRTSKTVDFCNFIPDNSQLEYTQECKTKNANILGFCWTS
STEIVFITDQGIEFYQVLPEKRSLKLLKSHNLNVNWYMYCPESAVILLSTTVLENVLQPF
HFRAGTMSKLPKFEIELPAAPKSTKPSLSERDIAMATIYGQLYVLFLRHHSRTSNSTGAE
VVLYHLPREGACKKMHILKLNRTGKFALNVVDNLVVVHHQDTETSVIFDIKLRGEFDGSV
TFHHPVLPARSIQPYQIPITGPAAVTSQSPVPCKLYSSSWIVFQPDIIISASQGYLWNLQ
VKLEPIVNLLPDKGRLMDFLLQRKECKMVILSVCSQMLSESDRASLPVIATVFDKLNHEY
KKYLDAEQSYAMAVEAGQSRSSPLLKRPVRTQAVLDQSDVYTHVLSAFVEKKEMPHKFVI
AVLMEYIRSLNQFQIAVQHYLHELVIKTLVQHNLFYMLHQFLQYHVLSDSKPLACLLLSL
ESFYPPAHQLSLDMLKRLSTANDEIVEVLLSKHQVLAALRFIRGIGGHDNISARKFLDAA
KQTEDNMLFYTIFRFFEQRNQRLRGSPNFTPGEHCEEHVAFFKQIFGDQALMRPTTF
Sequence length 657
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (6)
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 Evidence Score
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE, TYPE C — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE, TYPE C1 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (65)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 25867265
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21816206
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 28569401
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 12855642
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 25106741
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia BEFREE 17982462, 20578239, 28025863, 30382947
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17328047, 28846098, 30658188
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 17328047, 28846098, 30658188
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 31280356
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Barrett Esophagus Barrett esophagus BEFREE 25867265
★★★★★
★☆☆☆☆
Found in Text Mining only