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

Gene ID: 29919, updated on 1-Jun-2020

Summary

Official Symbol
RMC1provided by HGNC
Official Full Name
regulator of MON1-CCZ1provided by HGNC
Primary source
HGNC:HGNC:24326
See related
Ensembl:ENSG00000141452
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

Genomic context

See RMC1 in Genome Data Viewer
Location:
18q11.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (23503470..23531822)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21083434..21113311)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene Cdk5 and Abl enzyme substrate 1 Neighboring gene transmembrane protein 241 Neighboring gene RIO kinase 3 Neighboring gene NPC intracellular cholesterol transporter 1 Neighboring gene ankyrin repeat domain 29 Neighboring gene ribosomal protein S10 pseudogene 27

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23453

Gene Ontology Provided by GOA

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

General protein information

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)

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_001276342.1NP_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, B7Z2Y1, B7Z3Q1
    Related
    ENSP00000482573.1, ENST00000615148.4
    Conserved Domains (1) summary
    pfam07035
    Location:427510
    Mic1; Colon cancer-associated protein Mic1-like
  2. NM_001318707.1NP_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/Swiss-Prot
    Q96DM3
    UniProtKB/TrEMBL
    B7Z201
    Conserved Domains (1) summary
    pfam07035
    Location:318474
    Mic1; Colon cancer-associated protein Mic1-like
  3. NM_001318708.1NP_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/Swiss-Prot
    Q96DM3
    UniProtKB/TrEMBL
    B7Z2Y1
    Conserved Domains (1) summary
    pfam07035
    Location:318401
    Mic1; Colon cancer-associated protein Mic1-like
  4. NM_001318709.1NP_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/Swiss-Prot
    Q96DM3
    UniProtKB/TrEMBL
    B7Z3Q1, K7ENL9
    Related
    ENSP00000467007.1, ENST00000590868.5
    Conserved Domains (1) summary
    pfam07035
    Location:427583
    Mic1; Colon cancer-associated protein Mic1-like
  5. NM_013326.5NP_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
    UniProtKB/TrEMBL
    B7Z201
    Related
    ENSP00000269221.2, ENST00000269221.8
    Conserved Domains (1) summary
    pfam07035
    Location:475631
    Mic1; Colon cancer-associated protein Mic1-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011525939.1XP_011524241.1  regulator of MON1-CCZ1 complex isoform X1

    Conserved Domains (1) summary
    pfam07035
    Location:318474
    Mic1; Colon cancer-associated protein Mic1-like
  2. XM_017025717.1XP_016881206.1  regulator of MON1-CCZ1 complex isoform X1

    Conserved Domains (1) summary
    pfam07035
    Location:318474
    Mic1; Colon cancer-associated protein Mic1-like

RNA

  1. XR_935218.2 RNA Sequence

    Related
    ENST00000590870.5
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