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

Gene ID: 1122, updated on 1-Jun-2020

Summary

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
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

Genomic context

See CHML in Genome Data Viewer
Location:
1q43
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (241628851..241640369, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (241792166..241799232, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene fumarate hydratase Neighboring gene kynurenine 3-monooxygenase Neighboring gene uncharacterized LOC105373233 Neighboring gene opsin 3 Neighboring gene WD repeat domain 64 Neighboring gene CRISPRi-validated cis-regulatory element chr1.12743

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10071, FLJ13361

Gene Ontology Provided by GOA

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

General protein information

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)

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_001381853.1NP_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
  2. NM_001381854.1NP_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
  3. NM_001821.4NP_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
    P26374
    Related
    ENSP00000355511.1, ENST00000366553.2
    Conserved Domains (1) summary
    cl21454
    Location:6547
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

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_000001.11 Reference GRCh38.p13 Primary Assembly

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