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

    Gene ID: 1122, updated on 10-Dec-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (241628851..241640369, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (241040328..241051843, complement)
    RS_2024_09 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 promotes liver cancer metastasis by facilitating Rab14 recycle. Chen TW, et al. Nat Commun, 2019 Jun 7. PMID 31175290, Free PMC Article
    2. 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
    3. 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
    4. CHML is an NRF2 target gene that regulates mTOR function. Dodson M, et al. Mol Oncol, 2022 Apr. PMID 35184380, Free PMC Article
    5. 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

    See all (44) 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)

    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 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 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_2024_08

    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

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

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