Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

CHM Gene

protein-coding   GIFtS: 62
GCID: GC0XM085116

choroideremia (Rab escort protein 1)


(Previous symbols: TCD, DXS540)
 Explore 17 diseases affiliated with
CHM via our new
 Human Malady Compendium 
Biological research products
for CHM
    

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

Aliases
Choroideremia (Rab Escort Protein 1)1 2     Rab Proteins Geranylgeranyltransferase Component A 12
TCD1 2 3 5     REP13
REP-11 2 3     Choroideremia Protein3
DXS5401 2     Rab Escort Protein 13
GGTA2     TCD Protein3
HSD-322     

External Ids:    HGNC: 19401   Entrez Gene: 11212   Ensembl: ENSG000001884197   OMIM: 3003905   UniProtKB: P243863   

Export aliases for CHM gene to outside databases

Previous GC identifers: GC0XM080499 GC0XM082196 GC0XM083152 GC0XM083889 GC0XM083891 GC0XM084923 GC0XM085002 GC0XM078692


(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 CHM:
This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit
binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl
transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus
to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as
tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid,
retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different
isoforms.(provided by RefSeq, Feb 2009)

UniProtKB/Swiss-Prot: RAE1_HUMAN, P24386
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. Also a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B)
can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab
protein geranylgeranylation

Gene Wiki entry for CHM (Rab escort protein)


(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_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHM gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHM promoter sequence
   Search SABiosciences Chromatin IP Primers for CHM

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


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

Entrez Gene cytogenetic band: Xq21.2   Ensembl cytogenetic band:  Xq21.2   HGNC cytogenetic band: Xq21.1-q21.3

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM085116:  view genomic region     (about GC identifiers)

Start:
85,116,185 bp from pter      End:
85,302,566 bp from pter
Size:
186,382 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: RAE1_HUMAN, P24386 (See protein sequence)
Recommended Name: Rab proteins geranylgeranyltransferase component A 1  
Size: 653 amino acids; 73476 Da
Subunit: Monomer. Can associate with the Rab GGTase dimer (RGGT or component B) prior to Rab protein binding; the
association is stabilized by geranylgeranyl pyrophosphate (GGpp). The CHM:RGGT:Rab complex is destabilized by GGpp.
Interacts with RAB1B; the interaction is required for RAB1B prenylation. Interacts with RABGGTA
Secondary accessions: A1L4D2 O43732
Alternative splicing: 2 isoforms:  P24386-1   P24386-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHM: NX_P24386

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P24386

  • CHM Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_000381.1  NP_001138886.1  

    ENSEMBL proteins: 
     ENSP00000350386   ENSP00000362228   ENSP00000441728  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: CHM
    OriGene Custom Protein Services for CHM 
    GenScript Custom Purified and Recombinant Proteins Services for CHM
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CHM

    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--


    CHM for ontologies           About GeneDecksing



    CHM Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CHM
    Browse R&D Systems for Antibodies
    OriGene Antibodies: CHM
    OriGene Custom Antibody Services for CHM 
    GenScript Superior Antibodies for CHM
    Novus Biologicals CHM Antibodies
    Abcam antibodies for CHM 
    Uscn Antibodies for CHM
    Search ThermoFisher Antibodies for CHM

    Assay Products for CHM: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CHM
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CHM


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

    CHM 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 P24386

    ProtoNet protein and cluster: P24386

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

    UniProtKB/Swiss-Prot: RAE1_HUMAN, P24386
    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,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RAE1_HUMAN, P24386
    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. Also a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B)
    can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab
    protein geranylgeranylation

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 2): CHM
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHM
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate CHM (see all 30):
    hsa-miR-498 hsa-miR-217 hsa-miR-4311 hsa-miR-137 hsa-miR-509-5p hsa-miR-218-1* hsa-miR-944 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidCHM 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHM (see all 6)
    OriGene siRNA: CHM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CHM

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHM (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHM (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): CHM (NM_000390)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHM 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CHM
    Search LifeMap BioReagents cell lines for CHM

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHM

    Gene Ontology (GO): 4 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--
    GO:0005515protein binding ----
    GO:0017137Rab GTPase binding ----


    CHM for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for CHM:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
         Mouse knock-outs for CHM: Chmtm1.3Seab Chmtm1Jvdh Chmtm1.2Seab
         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Chm):
     cardiovascular system  embryogenesis  growth/size  homeostasis/metabolism  mortality/aging 
     nervous system  normal  pigmentation  vision/eye 

    CHM for phenotypes           About GeneDecksing


    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/65 Interacting proteins for CHM (P243863 ENSP000003503864) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGED4BQ96JG83, ENSP000003353854I2D: score=1 STRING: ENSP00000335385
    COPS8Q996273, ENSP000003463404I2D: score=1 STRING: ENSP00000346340
    DDX19BQ9UMR23, ENSP000002880714I2D: score=1 STRING: ENSP00000288071
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    FAF1Q9UNN53, ENSP000003794574I2D: score=1 STRING: ENSP00000379457
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0006886intracellular protein transport IEA--
    GO:0007601visual perception IEA--
    GO:0018344protein geranylgeranylation TAS8380507
    GO:0050896response to stimulus IEA--


    CHM 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

    CHM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHM

    1 DrugBank Compound for CHM    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    FARNESYL-- --target--10592235

    7 Novoseek chemical compound relationships for CHM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    geranylgeranyl pyrophosphate 62.4 8 11675392 (5), 11141079 (2)
    gibberellin 48.9 3 12787245 (1), 10394640 (1)
    gdp 34.2 4 9563513 (2), 7957092 (1), 7882424 (1)
    abscisic acid 30.4 6 9435140 (1), 12787245 (1)
    cysteine 24.6 7 9435140 (1), 12787245 (1), 17935254 (1), 10394640 (1) (see all 5)
    gtp 7.11 2 9563513 (2)
    lipid 0 1 12827496 (1)

    Search CenterWatch for drugs/clinical trials and news about CHM / RAE1 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 CHM gene (3 alternative transcripts): 
    NM_000390.2  NM_001145414.1  NM_001037312.1  

    Unigene Cluster for CHM:

    Choroideremia (Rab escort protein 1)
    Hs.496449  [show with all ESTs]
    Unigene Representative Sequence: NM_000390
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357749(uc004eet.3 uc011mqz.2) ENST00000467744 ENST00000358786(uc004eeu.4 uc004eev.4)
    ENST00000487515 ENST00000483950 ENST00000537751

    miRNA
    Products:
         
    OriGene 3'-UTR Clone (see all 2): CHM
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHM
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate CHM (see all 30):
    hsa-miR-498 hsa-miR-217 hsa-miR-4311 hsa-miR-137 hsa-miR-509-5p hsa-miR-218-1* hsa-miR-944 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidCHM 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHM (see all 6)
    OriGene siRNA: CHM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHM
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHM (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHM (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): CHM (NM_000390)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHM 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHM
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHM
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHM
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHM

    Additional cDNA sequence: 

    AK095883.1 AK291160.1 AK299323.1 AK312443.1 AY255796.1 BC032237.1 BC063522.1 BC065702.1 
    BC073987.1 BC105969.1 BC130494.1 BC130496.1 M83773.1 X57637.1 X78121.1 

    11 DOTS entries:

    DT.75178644  DT.121299419  DT.70103090  DT.413508  DT.102827417  DT.121299409  DT.40126657  DT.100749495 
    DT.121299453  DT.40106218  DT.95156019 

    24/104 AceView cDNA sequences (see all 104):

    AI432571 CB155362 AW089657 BQ632151 AL524494 AW613181 AV709873 BC032237 
    BU688880 AI910647 AA931465 BE501743 BM721494 BU738048 AI474660 X78121 
    BQ631852 AY255796 CD106837 AA878377 BM677132 BX484921 NM_000390 BM700393 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CHM (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b
    SP1:                                -                                                                     
    SP2:                    -           -                                                                     
    SP3:                    -           -     -                                                               
    SP4:                                                                                -                     
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for CHM

    (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

    CHM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATATATGAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CHM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHM

    SOURCE GeneReport for Unigene cluster: Hs.496449
        SABiosciences Custom PCR Arrays for CHM
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHM
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHM
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHM
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHM

    (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 CHM gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CHM1 choroideremia (Rab escort protein 1) 69.98(n)
    66.56(a)
      422266  NM_001031119.1  NP_001026290.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    65(a)
    1 → many
    GL343202.1(1229248-1282095)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685782 choroideremia (Rab escort protein 1) 74.06(n)    BC061662.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.170402 Danio rerio Rab escort protein 1 (chm) mRNA, complete more 74.34(n)    AY500891.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rep1 , 3 neurotransmitter secretion RAB escort
    protein3
    Rab escort protein1
    34(a)3
    46.41(n)1
    39.43(a)1
      56D133
    372461  NM_058072.31  NP_477420.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y67D2.13   -- 30(a)   III(1642144-1648359)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons REP6
    Rab escort protein
    25(a)
    1 → many
    3(2035003-2037788)
    rice
    (Oryza sativa)
    Liliopsida --
    rab GDP dissociation inhibitor alpha, putative, ex...
    30(a)
    1 → many
    1(9272876-9278032)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHM gene
    GDI12  CHML2  GDI22  
    2 SIMAP similar genes for CHM using alignment to 3 protein entries:     RAE1_HUMAN (see all proteins):
    CHML    GDI2

    CHM 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

    10/2117 NCBI SNPs in CHM are shown (see all 2117    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1326302671,2
    Cpathogenic85149206(-) ACATGA/CATGAA 2 * C stg10--------
    rs1500994591,2
    C,--85115788(+) ACAAAC/GCAGAT 1 -- ds50010--------
    rs9818461,2
    C,F,H,--85115789(-) TATCTG/CCTTTG 1 -- ds50015Minor allele frequency- C:0.01MN NS EA 598
    rs1924847721,2
    --85115891(+) CAGCCG/TCTACA 1 -- ds50010--------
    rs1856700981,2
    --85115919(+) AGAAAA/GGTATC 1 -- ds50010--------
    rs1426720011,2
    --85116064(+) TATACA/TGCTTG 1 -- ds50010--------
    rs1159350311,2
    C,--85116177(+) ATGACA/GCCATG 1 -- ds50010--------
    rs735219541,2
    C,--85116284(+) TCTGAG/ATAAAA 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs1162355521,2
    C,--85116536(+) TAGTTC/TTAGAA 1 -- ut310--------
    rs1447773311,2
    --85116583(+) AAATAC/TGGGAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CHM (85116185 - 85302566 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CHM
         1 CNV: 1855
    Human Gene Mutation Database (HGMD): CHM

    Locus Specific Mutation Databases (LSDB): CHM

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHM
    DNA2.0 Custom Variant and Variant Library Synthesis for CHM

    (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

    CHM for disorders           About GeneDecksing

    OMIM gene information: 300390   
    OMIM disorders: 303100  
    UniProtKB/Swiss-Prot: RAE1_HUMAN, P24386
  • Defects in CHM are the cause of choroideremia (CHM) [MIM:303100]. An X-linked recessive disease characterized
  • by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males
    develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle
    age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal
    atrophy

    17 diseases for CHM:    About MalaCards
    choroideremia    martin-probst deafness-mental retardation syndrome    x-linked disease    choroiditis
    retinitis    gestational trophoblastic neoplasm    trophoblastic neoplasm    mental retardation syndrome
    chorioretinal atrophy    chorioretinitis    pigmentary retinopathy    night blindness
    retinal degeneration    eye disease    parkinson's disease    blindness
    choriocarcinoma

    2 diseases from the University of Copenhagen DISEASES database for CHM:
    Choroideremia     Parkinson's disease

    7 Novoseek disease relationships for CHM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    choroideremia 99.1 72 8749050 (3), 17698759 (3), 9349950 (3), 8294464 (2) (see all 40)
    retinal degeneration 55.2 6 12401133 (2), 8294464 (1), 12014918 (1), 15370541 (1)
    blindness 52.8 2 11886217 (1), 12576024 (1)
    retinitis pigmentosa 52.3 1 11139690 (1)
    eye diseases 44.9 5 9067750 (1), 9175730 (1), 17483097 (1)
    retinopathy 19.2 3 20027300 (1)
    parkinson disease 18.5 1 16250025 (1)

    Genatlas disease: CHM
    choroideremia

    GeneTests: CHM
    Choroideremia

    Genetic Association Database (GAD): CHM

    Export disorders for CHM 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 CHM gene, integrated from 9 sources (see all 109):
    (articles sorted by number of sources associating them with CHM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The functional effect of pathogenic mutations in Rab escort protein 1. (PubMed id 19427510)1, 2, 9 Sergeev Y.V....Macdonald I.M. (2009)
    2. Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes. (PubMed id 7957092)1, 2, 9 Alexandrov K....Zerial M. (1994)
    3. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. (PubMed id 21905166)1, 2 Esposito G.... Salvatore F. (2011)
    4. Rab geranylgeranylation occurs preferentially via the pre-formed REP-RGGT complex and is regulated by geranylgeranyl pyrophosphate. (PubMed id 18532927)1, 2 Baron R.A. and Seabra M.C. (2008)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    6. Missense mutation in the choroideremia gene. (PubMed id 7951216)1, 2 Donnelly P.... Pascal O. (1994)
    7. Cloning and characterization of the human choroideremia gene. (PubMed id 7981670)1, 2 van Bokhoven H.... Cremers F.P. (1994)
    8. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. (PubMed id 1598901)1, 2 van den Hurk J.A.J.M.... Cremers F.P.M. (1992)
    9. Isolation of a candidate gene for choroideremia. (PubMed id 1549574)1, 2 Merry D.E.... Nussbaum R.L. (1992)
    10. Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2. (PubMed id 1373238)1, 3 Molloy C.M....Cremers F.P. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1121 HGNC: 1940 AceView: CHM Ensembl:ENSG00000188419 euGenes: HUgn1121
    ECgene: CHM H-InvDB: CHM

    (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 CHM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CHM Genetics and Cytogenetics in Oncology and Haematology
    Mutations of the REP1 genehttp://www.retina-international.org/files/sci-news/repmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHM

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     Browse for Gene Knock-down Tools from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of CHM
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for CHM   Browse OriGene shRNA RFPs  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHM   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHM  
     OriGene Protein Over-expression Lysate for CHM   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for CHM   OriGene 3'-UTR Clone for CHM  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHM   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHM  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CHM   OriGene Custom Protein Services for CHM  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CHM
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHM
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHM
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHM
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHM
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHM
     GenScript Custom Purified and Recombinant Proteins Services for CHM GenScript cDNA clones with any tag delivered in your preferred vector for CHM
     GenScript Custom Assay Services for CHM GenScript Superior Antibodies for CHM
     GenScript Custom overexpressing Cell Line Services for CHM CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in CHM promoter
     Search Chromatin IP Primers for CHM
     RT2 qPCR Primer Assay in human, mouse, rat CHM
     GNC Network for CHM
     SABiosciences Custom PCR Arrays for CHM
     Search Tocris compounds for CHM
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     CHM antibodies
     Antibodies for CHM
     See all of Abcam's Antibodies, Kits and Proteins for CHM
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     CHM Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for CHM
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHM
     SwitchGear 3'UTR luciferase reporter plasmids for CHM
     SwitchGear Promoter luciferase reporter plasmids for CHM
     Search ThermoFisher Antibodies for CHM
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHM
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CHM gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4