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RMC1 regulator of MON1-CCZ1 [ Homo sapiens (human) ]

Gene ID: 29919, updated on 2-Nov-2024

Summary

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Official Symbol
RMC1provided by HGNC
Official Full Name
regulator of MON1-CCZ1provided by HGNC
Primary source
HGNC:HGNC:24326
See related
Ensembl:ENSG00000141452 MIM:620267; AllianceGenome:HGNC:24326
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
MIC1; Mic-1; WDR98; C18orf8; HsT2591
Summary
This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]
Expression
Ubiquitous expression in bone marrow (RPKM 14.6), testis (RPKM 14.1) and 25 other tissues See more
Orthologs
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Genomic context

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See RMC1 in Genome Data Viewer
Location:
18q11.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (23503470..23531822)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (23697559..23725914)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21083434..21111786)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene Cdk5 and Abl enzyme substrate 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:20829775-20830276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20839263-20839926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13152 Neighboring gene transmembrane protein 241 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20862678-20863368 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20864059-20864750 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20864751-20865440 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20869474-20870086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20870087-20870699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20882361-20883251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20887449-20887950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20887951-20888450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20910236-20910904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13153 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:20956411-20956910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13154 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:20963589-20963764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21033050-21033550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13162 Neighboring gene NANOG hESC enhancer GRCh37_chr18:21085432-21085935 Neighboring gene RIO kinase 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:21098843-21100042 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:21109032-21110231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13163 Neighboring gene NPC intracellular cholesterol transporter 1 Neighboring gene Sharpr-MPRA regulatory region 2631 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:21156116-21157315 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21164994-21165541 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21165542-21166088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9360 Neighboring gene ankyrin repeat domain 29 Neighboring gene Sharpr-MPRA regulatory region 8852 Neighboring gene ribosomal protein S10 pseudogene 27

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. Knockdown of macrophage inhibitory cytokine-1 in RPMI-8226 human multiple myeloma cells inhibits osteoclastic differentiation through inhibiting the RANKL-Erk1/2 signaling pathway. Yuan M, et al. Mol Med Rep, 2016 Dec. PMID 27779672
  2. 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. Vaites LP, et al. Mol Cell Biol, 2018 Jan 1. PMID 29038162, Free PMC Article
  3. Endosomal Rab cycles regulate Parkin-mediated mitophagy. Yamano K, et al. Elife, 2018 Jan 23. PMID 29360040, Free PMC Article
  4. NOTCH1 nuclear interactome reveals key regulators of its transcriptional activity and oncogenic function. Yatim A, et al. Mol Cell, 2012 Nov 9. PMID 23022380, Free PMC Article
  5. Integral and associated lysosomal membrane proteins. Schröder B, et al. Traffic, 2007 Dec. PMID 17897319

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Authors identified C18orf8/RMC1 as a new subunit of the CCZ1-MON1 RAB7 guanine exchange factor (GEF) that positively regulates RAB7 recruitment to LE/autophagosomes.
    Title: 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.
Submit: New GeneRIF Correction

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

Clone Names

  • FLJ23453

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 autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of Mon1-Ccz1 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Mon1-Ccz1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in late endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in late endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosomal membrane HDA PubMed 

General protein information

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Preferred Names
regulator of MON1-CCZ1 complex
Names
WD repeat domain 98
WD repeat-containing protein 98
colon cancer-associated protein Mic1
macrophage inhibitory cytokine 1
uncharacterized protein C18orf8

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.

Genomic

  1. NG_033119.1 RefSeqGene

    Range
    5042..33353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276342.1 → NP_001263271.1  regulator of MON1-CCZ1 complex isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region and uses an alternate splice site in the 3' coding region, which results in a frameshift compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC010853, AC026634, AK295246, AK296230
    Consensus CDS
    CCDS74199.1
    UniProtKB/TrEMBL
    A0A087WZD4
    Conserved Domains (1) summary
    pfam07035
    Location:427 → 510
    Mic1; Colon cancer-associated protein Mic1-like

  2. NM_001318707.1 → NP_001305636.1  regulator of MON1-CCZ1 complex isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks three exons in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC010853, AC026634, AK294169, BC008305
    UniProtKB/TrEMBL
    B7Z201
    Conserved Domains (1) summary
    pfam07035
    Location:318 → 474
    Mic1; Colon cancer-associated protein Mic1-like

  3. NM_001318708.1 → NP_001305637.1  regulator of MON1-CCZ1 complex isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences, which result in the use of a downstream in-frame start codon and a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (4) has a shorter N-terminus and a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AC010853, AC026634, AK295246, BC008305
    UniProtKB/TrEMBL
    B7Z201, B7Z2Y1
    Conserved Domains (1) summary
    pfam07035
    Location:318 → 401
    Mic1; Colon cancer-associated protein Mic1-like

  4. NM_001318709.1 → NP_001305638.1  regulator of MON1-CCZ1 complex isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two consecutive in-frame exons in the 5' coding region. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AC026634, AK296230, BC008305, DC383182
    Consensus CDS
    CCDS82243.1
    UniProtKB/TrEMBL
    B7Z3Q1, K7ENL9
    Related
    ENSP00000467007.1, ENST00000590868.5
    Conserved Domains (1) summary
    pfam07035
    Location:427 → 583
    Mic1; Colon cancer-associated protein Mic1-like

  5. NM_013326.5 → NP_037458.3  regulator of MON1-CCZ1 complex isoform 1

    See identical proteins and their annotated locations for NP_037458.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC010853, AC026634, AK057192, AK294169
    Consensus CDS
    CCDS32803.1
    UniProtKB/Swiss-Prot
    Q96DM3, Q9BU17, Q9Y5M0
    UniProtKB/TrEMBL
    B7Z3Q1
    Related
    ENSP00000269221.2, ENST00000269221.8
    Conserved Domains (1) summary
    pfam07035
    Location:475 → 631
    Mic1; Colon cancer-associated protein Mic1-like

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    23503470..23531822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437488.1 → XP_047293444.1  regulator of MON1-CCZ1 complex isoform X2

  2. XM_047437486.1 → XP_047293442.1  regulator of MON1-CCZ1 complex isoform X1

  3. XM_047437487.1 → XP_047293443.1  regulator of MON1-CCZ1 complex isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    23697559..23725914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318551.1 → XP_054174526.1  regulator of MON1-CCZ1 complex isoform X2

  2. XM_054318549.1 → XP_054174524.1  regulator of MON1-CCZ1 complex isoform X1

  3. XM_054318550.1 → XP_054174525.1  regulator of MON1-CCZ1 complex isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96DM3.2 GenPept UniProtKB/Swiss-Prot:Q96DM3

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