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CHML CHM like Rab escort protein [ Homo sapiens (human) ]

Gene ID: 1122, updated on 5-Mar-2024

Summary

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Official Symbol
CHMLprovided by HGNC
Official Full Name
CHM like Rab escort proteinprovided by HGNC
Primary source
HGNC:HGNC:1941
See related
Ensembl:ENSG00000203668 MIM:118825; AllianceGenome:HGNC:1941
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
REP2
Summary
The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

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See CHML in Genome Data Viewer
Location:
1q43
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (241628851..241640369, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (241040328..241051843, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (241792153..241803671, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2007 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:241682833-241683429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2828 Neighboring gene fumarate hydratase Neighboring gene kynurenine 3-monooxygenase Neighboring gene opsin 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:241802798-241803368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:241803369-241803938 Neighboring gene uncharacterized LOC124904603 Neighboring gene WD repeat domain 64 Neighboring gene CRISPRi-validated cis-regulatory element chr1.12743 Neighboring gene uncharacterized LOC105373231

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. CHML is an NRF2 target gene that regulates mTOR function. Dodson M, et al. Mol Oncol, 2022 Apr. PMID 35184380, Free PMC Article
  2. CHML targeted by miR-199a-3p promotes non-small cell lung cancer cell growth via binding to Rab5A. Dong C, et al. Pathol Res Pract, 2021 Nov. PMID 34649053
  3. CHML promotes liver cancer metastasis by facilitating Rab14 recycle. Chen TW, et al. Nat Commun, 2019 Jun 7. PMID 31175290, Free PMC Article
  4. Expression and localization of rab escort protein isoforms in parotid acinar cells from rat. Chan D, et al. J Cell Physiol, 2000 Dec. PMID 11056004
  5. Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. von Bokhoven H, et al. Genomics, 1994 Jan 15. PMID 8188272

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CHML is an NRF2 target gene that regulates mTOR function.
    Title: CHML is an NRF2 target gene that regulates mTOR function.
  2. CHML targeted by miR-199a-3p promotes non-small cell lung cancer cell growth via binding to Rab5A.
    Title: CHML targeted by miR-199a-3p promotes non-small cell lung cancer cell growth via binding to Rab5A.
  3. CHML promotes migration, invasion and metastasis of hepatocellular carcinoma cells, in a Rab14-dependent manner. Mechanism study reveals that CHML facilitates constant recycling of Rab14 by escorting Rab14 to the membrane.
    Title: CHML promotes liver cancer metastasis by facilitating Rab14 recycle.
  4. Polymorphisms in the OPN3 and CHML genes are associated with asthma and atopic asthma.
    Title: Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.
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

  • FLJ10071, FLJ13361

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP-dissociation inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
enables small GTPase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in protein geranylgeranylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein geranylgeranylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein geranylgeranylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in small GTPase-mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of Rab-protein geranylgeranyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Rab-protein geranylgeranyltransferase complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
rab proteins geranylgeranyltransferase component A 2
Names
CHM like Rab escort protein 2
choroideraemia-like protein
choroideremia-like (Rab escort protein 2)
choroideremia-like protein

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.

mRNA and Protein(s)

  1. NM_001381853.1 → NP_001368782.1  rab proteins geranylgeranyltransferase component A 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AL133390
    Consensus CDS
    CCDS31073.1
    UniProtKB/Swiss-Prot
    B2RAB9, P26374, Q17RE0, Q9H1Y4
    Related
    ENSP00000355511.1, ENST00000366553.3
    Conserved Domains (1) summary
    cl21454
    Location:6 → 547
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  2. NM_001381854.1 → NP_001368783.1  rab proteins geranylgeranyltransferase component A 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AL133390
    Consensus CDS
    CCDS31073.1
    UniProtKB/Swiss-Prot
    B2RAB9, P26374, Q17RE0, Q9H1Y4
    Conserved Domains (1) summary
    cl21454
    Location:6 → 547
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  3. NM_001821.4 → NP_001812.2  rab proteins geranylgeranyltransferase component A 2

    See identical proteins and their annotated locations for NP_001812.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AL133390
    Consensus CDS
    CCDS31073.1
    UniProtKB/Swiss-Prot
    B2RAB9, P26374, Q17RE0, Q9H1Y4
    Conserved Domains (1) summary
    cl21454
    Location:6 → 547
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    241628851..241640369 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    241040328..241051843 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P26374.2 GenPept UniProtKB/Swiss-Prot:P26374

Gene LinkOut

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