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

Summary

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

Location:: 18q11.2

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (23503470..23531822)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (23697559..23725914)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (21083434..21111786)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

RH67909 (e-PCR)
- UniSTS:58665

RH48826 (e-PCR)
- UniSTS:45625

AL034225 (e-PCR)
- UniSTS:94043

D18S75E (e-PCR)
- UniSTS:147352

WI-14881 (e-PCR)
- UniSTS:60833

RH103425 (e-PCR)
- UniSTS:97750

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 more info	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

NG_033119.1 RefSeqGene

Range

5042..33353

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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