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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
    mouse all
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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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    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)

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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