This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013] See more...

Aliases for RMC1 Gene

Aliases for RMC1 Gene

  • Regulator Of MON1-CCZ1 2 3 5
  • Colon Cancer-Associated Protein Mic1 3 4
  • WD Repeat-Containing Protein 98 3 4
  • Regulator Of MON1-CCZ1 Complex 3 4
  • WD Repeat Domain 98 2 3
  • C18orf8 3 4
  • WDR98 3 4
  • Mic-1 3 4
  • MIC1 3 4
  • Colon Cancer Associated Protein Mic1 2
  • Chromosome 18 Open Reading Frame 8 2
  • Macrophage Inhibitory Cytokine 1 3
  • Uncharacterized Protein C18orf8 3
  • HsT2591 3

External Ids for RMC1 Gene

Previous HGNC Symbols for RMC1 Gene

  • C18orf8
  • WDR98

Summaries for RMC1 Gene

Entrez Gene Summary for RMC1 Gene

  • This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]

GeneCards Summary for RMC1 Gene

RMC1 (Regulator Of MON1-CCZ1) is a Protein Coding gene. Diseases associated with RMC1 include Niemann-Pick Disease, Type C1 and Retinal Vascular Disease.

UniProtKB/Swiss-Prot Summary for RMC1 Gene

  • Componement 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).

Additional gene information for RMC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RMC1 Gene

Genomics for RMC1 Gene

GeneHancer (GH) Regulatory Elements for RMC1 Gene

Promoters and enhancers for RMC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J023502 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 792.2 +0.4 356 3.2 ZBTB40 SP1 CTCF ZBTB6 RBPJ POLR2A USF2 HCFC1 ELF1 L3MBTL2 RMC1 lnc-NPC1-8 NPC1 CABLES1 TMEM241 HSALNG0120452
GH18J023582 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 28.8 +81.6 81570 5.9 CTCF SREBF1 ZBTB6 SMARCE1 RBPJ POLR2A NR2F1 NR2F6 CREB1 HCFC1 NPC1 RMC1 ANKRD29 CABLES1 TMEM241 CABYR ENSG00000199366 lnc-RMC1-4
GH18J023539 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 29.2 +37.8 37831 3.1 SMARCE1 TEAD4 ZFX CBFA2T2 BACH1 MLLT1 ZNF687 SMARCA4 ZNF639 IKZF1 lnc-ANKRD29-2 NPC1 RMC1 ANKRD29 FJ601684-198
GH18J023528 Enhancer 1.3 Ensembl ENCODE dbSUPER 29.4 +25.3 25331 4.4 SMARCE1 POLR2A ETV6 ELF1 HLF L3MBTL2 DACH1 TEAD4 GTF2F1 ZFX HSALNG0120452 RMC1 NPC1
GH18J023450 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 -50.3 -50278 4.6 SIN3A ZBTB40 LCORL SMARCE1 POLR2A USF2 CREB1 RUNX1 CC2D1A NFYC RIOK3 lnc-TMEM241-9 RMC1 LAMA3 TMEM241 ENSG00000199357
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RMC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RMC1 Gene

Genomic Locations for RMC1 Gene
chr18:23,503,470-23,531,807
(GRCh38/hg38)
Size:
28,338 bases
Orientation:
Plus strand
chr18:21,083,462-21,111,746
(GRCh37/hg19)
Size:
28,285 bases
Orientation:
Plus strand

Genomic View for RMC1 Gene

Genes around RMC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RMC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RMC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RMC1 Gene

Proteins for RMC1 Gene

  • Protein details for RMC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DM3-RMC1_HUMAN
    Recommended name:
    Regulator of MON1-CCZ1 complex
    Protein Accession:
    Q96DM3
    Secondary Accessions:
    • Q9BU17
    • Q9Y5M0

    Protein attributes for RMC1 Gene

    Size:
    657 amino acids
    Molecular mass:
    74975 Da
    Quaternary structure:
    • Found in a complex with RMC1, CCZ1 MON1A and MON1B.
    SequenceCaution:
    • Sequence=AAD33909.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for RMC1 Gene

Post-translational modifications for RMC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RMC1 Gene

Domains & Families for RMC1 Gene

Gene Families for RMC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for RMC1 Gene

Suggested Antigen Peptide Sequences for RMC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61264 (B7Z2Y1_HUMAN)
  • Colon cancer-associated protein Mic1 (MIC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96DM3

UniProtKB/Swiss-Prot:

RMC1_HUMAN :
  • Belongs to the RMC1 family.
Family:
  • Belongs to the RMC1 family.
genes like me logo Genes that share domains with RMC1: view

Function for RMC1 Gene

Molecular function for RMC1 Gene

UniProtKB/Swiss-Prot Function:
Componement 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).

Phenotypes From GWAS Catalog for RMC1 Gene

genes like me logo Genes that share phenotypes with RMC1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RMC1 Gene

Localization for RMC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RMC1 Gene

Lysosome membrane. Late endosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RMC1 gene
Compartment Confidence
endosome 5
nucleus 3
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,HDA 17897319
GO:0005768 endosome IEA --
GO:0016020 membrane IEA --
GO:0031902 late endosome membrane IDA,IEA 29038162
genes like me logo Genes that share ontologies with RMC1: view

Pathways & Interactions for RMC1 Gene

PathCards logo

SuperPathways for RMC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0010506 regulation of autophagy IMP,IEA 29038162
genes like me logo Genes that share ontologies with RMC1: view

No data available for Pathways by source and SIGNOR curated interactions for RMC1 Gene

Drugs & Compounds for RMC1 Gene

No Compound Related Data Available

Transcripts for RMC1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RMC1 Gene

No ASD Table

Relevant External Links for RMC1 Gene

GeneLoc Exon Structure for
RMC1
ECgene alternative splicing isoforms for
RMC1

Expression for RMC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RMC1 Gene:

RMC1

Evidence on tissue expression from TISSUES for RMC1 Gene

  • Lung(4.2)
  • Nervous system(3.4)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RMC1 Gene

Orthologs for RMC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RMC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C18orf8 33
  • 100 (a)
OneToOne
C18H18orf8 32
  • 99.14 (n)
cow
(Bos Taurus)
Mammalia C18orf8 33
  • 93 (a)
OneToOne
C24H18orf8 32
  • 87.77 (n)
oppossum
(Monodelphis domestica)
Mammalia C18orf8 33
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C18orf8 33
  • 90 (a)
OneToOne
C7H18orf8 32
  • 88.59 (n)
mouse
(Mus musculus)
Mammalia 3110002H16Rik 33 32
  • 86.96 (n)
OneToOne
Rmc1 17
rat
(Rattus norvegicus)
Mammalia RGD1311805 32
  • 86.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C18orf8 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves C18orf8 33
  • 85 (a)
OneToOne
C18ORF8 32
  • 79.12 (n)
lizard
(Anolis carolinensis)
Reptilia C18orf8 33
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c18orf8 32
  • 75.7 (n)
Str.18235 32
African clawed frog
(Xenopus laevis)
Amphibia MGC68745 32
zebrafish
(Danio rerio)
Actinopterygii C24H18orf8 33
  • 76 (a)
OneToOne
zgc:101800 32
  • 70.61 (n)
Dr.18809 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007576 32
  • 49.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8270 33 32
  • 48.73 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y50D4A.4 33 32
  • 43.35 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G12010 32
  • 40.43 (n)
rice
(Oryza sativa)
Liliopsida Os10g0400900 32
  • 41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8232 33
  • 46 (a)
OneToOne
Species where no ortholog for RMC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RMC1 Gene

ENSEMBL:
Gene Tree for RMC1 (if available)
TreeFam:
Gene Tree for RMC1 (if available)

Paralogs for RMC1 Gene

No data available for Paralogs for RMC1 Gene

Variants for RMC1 Gene

Sequence variations from dbSNP and Humsavar for RMC1 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs145236115 uncertain-significance, Niemann-Pick disease, type C 23,531,887(+) CTTTACA/ downstream_transcript_variant
rs1482228628 uncertain-significance, Niemann-Pick disease type C1 23,532,256(+) ACAAC/AC downstream_transcript_variant
rs151305963 uncertain-significance, Niemann-Pick disease type C1 23,532,218(+) C/T downstream_transcript_variant
rs1555631169 uncertain-significance, Niemann-Pick disease type C1 23,532,261(+) TTTT/TTT downstream_transcript_variant
rs1555631174 uncertain-significance, Niemann-Pick disease type C1 23,532,267(+) C/ downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RMC1 Gene

Variant ID Type Subtype PubMed ID
esv34149 CNV loss 18971310
esv3641971 CNV loss 21293372
nsv509688 CNV insertion 20534489
nsv576572 CNV loss 21841781

Variation tolerance for RMC1 Gene

Residual Variation Intolerance Score: 71.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RMC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RMC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RMC1 Gene

Disorders for RMC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RMC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
niemann-pick disease, type c1
  • npc1
retinal vascular disease
  • retina circulation disorder
- elite association - COSMIC cancer census association via MalaCards
Search RMC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RMC1

genes like me logo Genes that share disorders with RMC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RMC1 Gene

Publications for RMC1 Gene

  1. Systematic Analysis of Human Cells Lacking ATG8 Proteins Uncovers Roles for GABARAPs and the CCZ1/MON1 Regulator C18orf8/RMC1 in Macroautophagic and Selective Autophagic Flux. (PMID: 29038162) Vaites LP … Harper JW (Molecular and cellular biology 2018) 2 3 4 56
  2. Integral and associated lysosomal membrane proteins. (PMID: 17897319) Schröder B … Hasilik A (Traffic (Copenhagen, Denmark) 2007) 3 4 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. Endosomal Rab cycles regulate Parkin-mediated mitophagy. (PMID: 29360040) Yamano K … Youle RJ (eLife 2018) 3 56

Products for RMC1 Gene

Sources for RMC1 Gene