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

CHML Gene

protein-coding   GIFtS: 53
GCID: GC01M241792

Choroideremia-Like (Rab Escort Protein 2)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

GeneCards Summary for CHML Gene: 
CHML (choroideremia-like (Rab escort protein 2)) is a protein-coding gene. Diseases associated with CHML include usher syndrome type ii, and choroideremia. GO annotations related to this gene include Rab geranylgeranyltransferase activity and GTPase activator activity. An important paralog of this gene is GDI1.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  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: 1q43   Ensembl cytogenetic band:  1q43   HGNC cytogenetic band: 1q43

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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for CHML at MOPED 

Post-translational modifications:

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

  • CHML Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHML Protein Expression
    REFSEQ proteins: NP_001812.2  
    ENSEMBL proteins: 
     ENSP00000355511  

    Human Recombinant Protein Products for CHML: 
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    Novus Biologicals CHML Proteins
    Novus Biologicals CHML Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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



    CHML Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     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 domain: IPB001738 Rab escort (choroideraemia) protein signature

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


    CHML for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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 - Custom generated mouse model solutions for CHML 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 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, Ligands according to IUPHAR, 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 (RAE2)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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)
    miRNA
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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 mRNA 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 AA804486 CB160778 BF437331 BX956583 CA312626 BI088411 AI167858 
    AI004823 BE503084 T11394 BE468155 BM557064 BE348356 BU509892 BE895865 
    AI829541 AI373290 AI741219 BQ775652 BM763291 BG035588 BG035681 AA805916 

    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)      CHML embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATTCAGTT
    CHML Expression
    About this image


    CHML expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Testis (Reproductive System)
             sperm   
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical cord blood-derived endothelial progenitor cells
     
     Endothelium (Cardiovascular System)
             Umbilical cord blood-derived endothelial progenitor cells
     
     Brain (Nervous System)
             primary visual cortex   

    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
    Assay Products:
     

     
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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 9/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chml1 , 5 choroideremia-like1, 5 82.88(n)1
    79.97(a)1
      1 (81.70 cM)5
    126631  NM_021350.21  NP_067325.21 
     1756864885 
    chicken
    (Gallus gallus)
    Aves CHML6
    rab proteins geranylgeranyltransferase component A...
    65(a)
    1 → many
    4(8537982-8597328)
    lizard
    (Anolis carolinensis)
    Reptilia CHML6
    Uncharacterized protein
    63(a)
    1 → many
    GL343202.1(1225836-1282192)
    zebrafish
    (Danio rerio)
    Actinopterygii chm6
    choroideremia (Rab escort protein 1)
    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  CHM2  GDI22  
    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, 4UniProtKB, 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
    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CHML:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv873368CNV Gain21882294
    nsv873372CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CHML
    DNA2.0 Custom Variant and Variant Library Synthesis for CHML

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 118825    OMIM disorders: --

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

    1 disease from the University of Copenhagen DISEASES database for CHML:
    Choroideremia

    CHML for disorders           About GeneDecksing

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): CHML
    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 28):
    (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. Follow-up examination of linkage and association to c hromosome 1q43 in multiple sclerosis. (PubMed id 19626040)1, 4 McCauley J.L....Haines J.L. (2009)
    4. Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation. (PubMed id 18344558)1, 4 White J.H....Pillai S.G. (2008)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Different structural organization of the encephalopsin gene in man and mouse. (PubMed id 12242008)1, 2 Kasper G.... Rump A. (2002)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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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
      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHML gene:
    Search GeneIP for patents involving CHML

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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