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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHML Gene

protein-coding   GIFtS: 51
GCID: GC01M241792

choroideremia-like (Rab escort protein 2)

 Explore 9 diseases affiliated with
CHML via our new
 Human Malady Compendium 
Biological research products
for CHML
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Choroideremia-Like (Rab Escort Protein 2)1 2     Rab Proteins Geranylgeranyltransferase Component A 22
REP22 3 5     Choroideremia-Like Protein3
REP-21 3     Rab Escort Protein 23
Choroideraemia-Like Protein2     

External Ids:    HGNC: 19411   Entrez Gene: 11222   Ensembl: ENSG000002036687   OMIM: 1188255   UniProtKB: P263743   

Export aliases for CHML gene to outside databases

Previous GC identifers: GC01M239882 GC01M237250 GC01M238093 GC01M238838 GC01M238122 GC01M239858 GC01M212250


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHML:
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)

UniProtKB/Swiss-Prot: RAE2_HUMAN, P26374
Function: Binds unprenylated Rab proteins, presents it to the catalytic Rab GGTase dimer, and remains bound to it after
the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab
back to the donor membrane. Less effective than REP-1 in supporting prenylation of Rab3 family

Gene Wiki entry for CHML


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHML gene promoter:
         AML1a   POU3F1   CUTL1   C/EBPalpha   NF-AT   E47   NF-AT4   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CHML

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHML


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q42-qter   Ensembl cytogenetic band:  1q43   HGNC cytogenetic band: 1q42-qter

CHML Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHML gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M241792:  view genomic region     (about GC identifiers)

Start:
241,792,155 bp from pter      End:
241,799,232 bp from pter
Size:
7,078 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RAE2_HUMAN, P26374 (See protein sequence)
Recommended Name: Rab proteins geranylgeranyltransferase component A 2  
Size: 656 amino acids; 74071 Da
Subunit: Monomer. Interacts with Rab and Rab GGTase
Miscellaneous: Substitutes for REP-1 thereby preventing widespread tissue abnormalities in patients with choroideremia
who lack REP-1
Secondary accessions: B2RAB9 Q17RE0 Q9H1Y4

Explore the universe of human proteins at neXtProt for CHML: NX_P26374

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P26374

  • CHML Protein expression data from MOPED and PaxDb:    About this image 
    CHML Protein Expression
    REFSEQ proteins: NP_001812.2  
    ENSEMBL proteins: 
     ENSP00000355511  

    Human Recombinant Protein Products for CHML: 
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    Uscn Proteins for CHML

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005968Rab-protein geranylgeranyltransferase complex IEA--

    CHML for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CHML for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR016664 Rab_geranylTrfase_A_euk
     IPR001738 Rab_escort
     IPR018203 GDP_dissociation_inhibitor

    Graphical View of Domain Structure for InterPro Entry P26374

    ProtoNet protein and cluster: P26374

    1 Blocks protein family: IPB001738 Rab escort (choroideraemia) protein signature

    UniProtKB/Swiss-Prot: RAE2_HUMAN, P26374
    Similarity: Belongs to the Rab GDI family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAE2_HUMAN, P26374
    Function: Binds unprenylated Rab proteins, presents it to the catalytic Rab GGTase dimer, and remains bound to it after
    the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab
    back to the donor membrane. Less effective than REP-1 in supporting prenylation of Rab3 family

         Genatlas biochemistry entry for CHML:
    Rab escort protein-2 activating geranylgeranyltransferase A (prenylating C terminus of RAB (signal transduction)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004663Rab geranylgeranyltransferase activity IEA--
    GO:0005096GTPase activator activity IEA--
         
    CHML for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHML:
     Decreased G3BP1 protein expres 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CHML 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHML

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for CHML (P263743 ENSP000003555114) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RABGGTBP536113, ENSP000003174734I2D: score=1 STRING: ENSP00000317473
    RAB1AP628203, ENSP000003872864I2D: score=2 STRING: ENSP00000387286
    RAB5AP203393, ENSP000002730474I2D: score=2 STRING: ENSP00000273047
    RAB3AP203363, ENSP000002222564I2D: score=2 STRING: ENSP00000222256
    RAB6AP203403, ENSP000003114494I2D: score=2 STRING: ENSP00000311449
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0007601visual perception TAS1301160

    CHML for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHML
    Search CenterWatch for drugs/clinical trials and news about CHML / RAE2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHML gene: 
    NM_001821.3  

    Unigene Cluster for CHML:

    Choroideremia-like (Rab escort protein 2)
    Hs.654545  [show with all ESTs]
    Unigene Representative Sequence: NM_001821
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000366553(uc001hzd.3)

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    hsa-miR-539 hsa-miR-3942-5p hsa-miR-1285 hsa-miR-3908 hsa-miR-891b hsa-miR-205* hsa-miR-3143 hsa-miR-520g
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    Additional cDNA sequence: 

    AJ293390.1 AJ293391.1 AJ293392.1 AK000933.1 AK023423.1 AK314125.1 BC117360.1 X64728.1 

    3 DOTS entries:

    DT.102994  DT.100041830  DT.100743529 

    24/100 AceView cDNA sequences (see all 100):

    BQ437051 CA312626 BU509892 BE348356 AA804486 BE503084 BI088411 BM763291 
    AI829541 BE468155 AI741219 BE895865 BF437331 BM557064 CB160778 BX956583 
    T11394 AI373290 AI004823 AI167858 BQ775652 NM_001821 AK023423 BF217939 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHML expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAATTCAGTT
    CHML Expression
    About this image
    See CHML Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHML

    SOURCE GeneReport for Unigene cluster: Hs.654545
        SABiosciences Custom PCR Arrays for CHML

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CHML gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CHML6
    choroideremia
    66(a)
    1 → many
    4(8622348-8681695)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    66(a)
    1 → many
    GL343202.1(1229248-1282095)
    zebrafish
    (Danio rerio)
    Actinopterygii chm6
    choroideremia
    50(a)
    1 → many
    21(33652581-33759726)
    fruit fly
    (Drosophila melanogaster)
    Insecta Rep3 neurotransmitter secretion RAB escort
    protein
    33(a)   56D13   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y67D2.13
    rep-11
    Protein REP-11 33(a)3
    46.48(n)1
    37.31(a)1
      III(1642144-1648359)3
    1753111  NM_001027757.21  NP_001022928.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MRS61 Mrs6p 46.87(n)
    32.29(a)
      854552   NP_015015.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons REP1 Rab escort protein 45.97(n)
    32.28(a)
      819832  NM_111530.3  NP_187306.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g02691001 hypothetical protein 47.42(n)
    42.25(a)
      4326267  NM_001049232.1  NP_001042697.1 


    ENSEMBL Gene Tree for CHML (if available)
    TreeFam Gene Tree for CHML (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHML gene
    GDI12  GDI22  CHM2  
    1 SIMAP similar gene for CHML using alignment to 1 protein entry:     RAE2_HUMAN:
    CHM

    CHML for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/177 NCBI SNPs in CHML are shown (see all 177    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1868719061,2
    --241791754(+) CTGTCC/GCATCC 2 -- ds5001 int10--------
    rs1903129611,2
    --241791755(+) TGTCGC/TATCCT 2 -- ds5001 int10--------
    rs120454071,2
    C--241791811(+) GGTTCG/AGTCAC 2 -- int1 ds50012Minor allele frequency- A:0.00NA 4
    rs1509066211,2
    --241791911(+) GTCTTC/TATGCT 2 -- int1 ds50010--------
    rs1819671001,2
    --241791927(+) CCTAGA/GATGTA 2 -- int1 ds50010--------
    rs6209051,2
    C,F,O,H--241791957(-) ATTAAG/AGAATA 2 -- ds5001 int112Minor allele frequency- A:0.07MN NS EA NA CSA WA 1195
    rs115877551,2
    C,H--241792141(+) AGTAAG/TTTTCT 2 -- ds5001 int10--------
    rs760609121,2
    --241792355(+) TTGCAA/TACAAT 2 -- ut31 int10--------
    rs1445033041,2
    --241792481(+) TCTGAA/GTGGAA 2 -- int1 ut310--------
    rs37658191,2
    C,F,H--241792562(+) TGAGTA/GTGTCA 2 -- ut31 int119Minor allele frequency- G:0.07EA NS NA WA 3818

    HapMap Linkage Disequilibrium report for CHML (241792155 - 241799232 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CHML: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CHML for disorders           About GeneDecksing

    OMIM gene information: 118825    OMIM disorders: --

    9 diseases for CHML:    About MalaCards
    usher syndrome type ii    usher syndrome    choroideremia    kearns-sayre syndrome
    intrahepatic cholangiocarcinoma    multiple sclerosis    cholangiocarcinoma    asthma
    choroiditis

    2 diseases from the University of Copenhagen DISEASES database for CHML:
    Choroideremia     Kearns-Sayre syndrome

    1 Novoseek disease relationship for CHML gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    choroideremia 93.8 1 8294464 (1)

    Human Genome Epidemiology (HuGE) Navigator: CHML (2 documents)

    Export disorders for CHML gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CHML gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with CHML)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. REP-2, a Rab escort protein encoded by the choroideremia-like gene. (PubMed id 8294464)1, 2, 9 Cremers F.P.M....Goldstein J.L. (1994)
    2. Cloning and characterization of the human choroideremia gene. (PubMed id 7981670)1, 3, 9 van Bokhoven H.... Cremers F.P. (1994)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Different structural organization of the encephalopsin gene in man and mouse. (PubMed id 12242008)1, 2 Kasper G.... Rump A. (2002)
    7. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. (PubMed id 1301160)1, 2 Cremers F.P.M.... Ropers H.-H. (1992)
    8. Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. (PubMed id 8188272)1, 9 von Bokhoven H....Ropers H.H. (1994)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Follow-up examination of linkage and association to c hromosome 1q43 in multiple sclerosis. (PubMed id 19626040)1 McCauley J.L....Haines J.L. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1122 HGNC: 1941 AceView: CHML Ensembl:ENSG00000203668 euGenes: HUgn1122
    ECgene: CHML H-InvDB: CHML

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for CHML Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for CHML gene:
    Search GeneIP for patents involving CHML

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