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RAB1A Gene

protein-coding   GIFtS: 65
GCID: GC02M065297

RAB1A, Member RAS Oncogene Family


(Previous symbol: RAB1)
  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)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
RAB1A, Member RAS Oncogene Family1 2     GTP Binding Protein Rab1a2
RAB11 2 3 5     Rab GTPase YPT1 Homolog2
YPT1-Related Protein2 3     RAB1, Member RAS Oncogene Family2
Rab GTPase YPT1 Homolog (Yeast)1     Ras-Related Protein Rab-1A2
YPT12     

External Ids:    HGNC: 97581   Entrez Gene: 58612   Ensembl: ENSG000001380697   OMIM: 1795085   UniProtKB: P628203   
ORGUL members:         

Export aliases for RAB1A gene to outside databases

Previous GC identifers: GC02M065447 GC02M065271 GC02M065289 GC02M065288 GC02M065225 GC02M065167 GC02M065048


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RAB1A Gene:
This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive
GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum
to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene
which encode different protein isoforms. (provided by RefSeq, Oct 2008)

GeneCards Summary for RAB1A Gene:
RAB1A (RAB1A, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB1A include rectum adenocarcinoma, and choroideremia. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB10.

UniProtKB/Swiss-Prot: RAB1A_HUMAN, P62820
Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of
transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active
GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible
for vesicle formation, movement, tethering and fusion. RAB1A regulates vesicular protein transport from the
endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and
growth hormone secretion. Regulates the level of CASR present at the cell membrane. Plays a role in cell adhesion
and cell migration, via its role in protein trafficking. Plays a role in autophagosome assembly and cellular
defense reactions against pathogenic bacteria. Plays a role in microtubule-dependent protein transport by early
endosomes and in anterograde melanosome transport

Gene Wiki entry for RAB1A 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAB1A gene promoter:
         NF-YA   POU3F2   NF-YB   E2F   CBF-A   CBF-B   E2F-1   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB1A promoter sequence
   Search Chromatin IP Primers for RAB1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB1A


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

Entrez Gene cytogenetic band: 2p14   Ensembl cytogenetic band:  2p14   HGNC cytogenetic band: 2p14

RAB1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB1A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M065297:  view genomic region     (about GC identifiers)

Start:
65,297,835 bp from pter      End:
65,357,435 bp from pter
Size:
59,601 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RAB1A_HUMAN, P62820 (See protein sequence)
Recommended Name: Ras-related protein Rab-1A  
Size: 205 amino acids; 22678 Da
Subunit: May interact with YIPF5 (By similarity). Interacts with GDI1; this promotes dissociation from membranes.
Interacts with L.pneumophila AnkX, LidA and Lem3. Interacts with L.pneumophila and L.drancourtii LepB; this
enhances RAB1A GTPase activity. Interacts with L.pneumophila DrrA; this disrupts the interaction between RAB1A
and GDI1 and promotes the exchange of RAB1A-bound GDP with GTP. Interacts with E.coli EspG and S.flexneri VirA;
this impairs ER to Golgi trafficking and protein secretion. Identified in a complex composed of RAB1A, ARF6 and
E.coli EspG
Selected PDB 3D structures from and Proteopedia for RAB1A (see all 11):
2FOL (3D)        2WWX (3D)        3L0I (3D)        3SFV (3D)        3TKL (3D)        4FMB (3D)    
Secondary accessions: P11476 Q6FIE7 Q96N61 Q9Y3T2
Alternative splicing: 3 isoforms:  P62820-1, P11476-1   P62820-2, P11476-2   P62820-3, P11476-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAB1A: NX_P62820

Explore proteomics data for RAB1A at MOPED

Post-translational modifications: 

  • Phosphorylated by CDK1 kinase during mitosis1
  • Phosphocholinated at Ser-79 by L.pneumophila AnkX, leading to displace GDP dissociation inhibitors (GDI). Both
    GDP-bound and GTP-bound forms can be phosphocholinated. Dephosphocholinated by L.pneumophila Lem3, restoring
    accessibility to L.pneumophila GTPase effector LepB1
  • Ubiquitination2 at Lys24, Lys119, Lys187
  • Modification sites at PhosphoSitePlus

  • See RAB1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004152.1  NP_056358.1  

    ENSEMBL proteins: 
     ENSP00000386451   ENSP00000387286   ENSP00000381540   ENSP00000386672   ENSP00000348546  
     ENSP00000260638  
    Reactome Protein details: P62820

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RAB: RAB, member RAS oncogene

    4 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P62820

    ProtoNet protein and cluster: P62820

    UniProtKB/Swiss-Prot: RAB1A_HUMAN, P62820
    Similarity: Belongs to the small GTPase superfamily. Rab family


    RAB1A 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAB1A_HUMAN, P62820
    Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of
    transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active
    GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible
    for vesicle formation, movement, tethering and fusion. RAB1A regulates vesicular protein transport from the
    endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and
    growth hormone secretion. Regulates the level of CASR present at the cell membrane. Plays a role in cell adhesion
    and cell migration, via its role in protein trafficking. Plays a role in autophagosome assembly and cellular
    defense reactions against pathogenic bacteria. Plays a role in microtubule-dependent protein transport by early
    endosomes and in anterograde melanosome transport

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA--
    GO:0005515protein binding IPI15186776
    GO:0005525GTP binding IEA--
         
    RAB1A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RAB1A:
     Decreased G3BP1 protein expres 

    Animal Models:
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    Block miRNA regulation of human, mouse, rat RAB1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAB1A (see all 85):
    hsa-miR-548j hsa-miR-3678-3p hsa-miR-3921 hsa-miR-10b* hsa-miR-548a-5p hsa-miR-192* hsa-miR-130b hsa-miR-647
    SwitchGear 3'UTR luciferase reporter plasmidRAB1A 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RAB1A_HUMAN, P62820: Golgi apparatus. Endoplasmic reticulum. Early endosome. Cytoplasm, cytosol. Membrane.
    Melanosome (By similarity). Note=Alternates between membrane-associated and cytosolic forms
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    cytosol3
    endosome2
    plasma membrane2
    vacuole2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005769early endosome IEA--

    RAB1A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RAB1A About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    2RNA Polymerase I Promoter Opening
    Mitotic Prophase0.56
    Golgi Cisternae Pericentriolar Stack Reorganization0.00
    3Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    4PLK1 signaling events
    PLK1 signaling events
    5Legionellosis
    Legionellosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RAB1A
        Epithelial Tight Junctions

    1 BioSystems Pathway for RAB1A
        PLK1 signaling events


    1 Reactome Pathway for RAB1A
        Golgi Cisternae Pericentriolar Stack Reorganization

    1 PharmGKB Pathway for RAB1A
        Bisphosphonate Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for RAB1A):
        Legionellosis


    RAB1A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAB1A
    Interactions:

        GeneGlobe Interaction Network for RAB1A

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

    Selected Interacting proteins for RAB1A (P628201, 2, 3 ENSP000003872864) via UniProtKB, MINT, STRING, and/or I2D (see all 212)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OCRLQ019681, 2, 3, ENSP000003601544EBI-716845,EBI-6148898 MINT-2981127 MINT-2880667 MINT-2883000 MINT-2883227 MINT-2981160 MINT-2981180 MINT-2883082 I2D: score=2 STRING: ENSP00000360154
    RABAC1Q9UI142, 3, ENSP000002220084MINT-68421 I2D: score=6 STRING: ENSP00000222008
    HIVEP1P158222, 3, ENSP000003686984MINT-63968 I2D: score=5 STRING: ENSP00000368698
    PSMD7P516652, 3, ENSP000002193134MINT-63970 I2D: score=4 STRING: ENSP00000219313
    GDI1P311502, 3, ENSP000003940714MINT-7720823 I2D: score=1 STRING: ENSP00000394071
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly IMP--
    GO:0000278mitotic cell cycle TAS--
    GO:0006184GTP catabolic process IDA--
    GO:0006886intracellular protein transport ----
    GO:0006888ER to Golgi vesicle-mediated transport IMP--

    RAB1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RAB1A

    1 HMDB Compound for RAB1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RAB1A gene (2 alternative transcripts): 
    NM_004161.4  NM_015543.1  

    Unigene Cluster for RAB1A:

    RAB1A, member RAS oncogene family
    Hs.310645  [show with all ESTs]
    Unigene Representative Sequence: AK123525
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000494188 ENST00000409892 ENST00000409784(uc002sdm.3 uc002sdn.3 uc010yqe.2 uc002sdo.3)
    ENST00000398529 ENST00000409751 ENST00000356214 ENST00000260638
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    Additional mRNA sequence: 

    AF170935.1 AF498929.1 AK055927.1 AK123525.1 AK303678.1 AK315495.1 AL050268.1 BC000905.2 
    BT019528.1 BT019529.1 BX571747.1 CR533479.1 CR536488.1 M28209.1 

    Selected DOTS entries (see all 46):

    DT.100880386  DT.100880389  DT.91781406  DT.100880392  DT.100839983  DT.121011761  DT.91781380  DT.100880376 
    DT.100880388  DT.97777879  DT.425094  DT.95259938  DT.95236109  DT.121011877  DT.100829531  DT.100880377 
    DT.121011836  DT.121011794  DT.100646647  DT.100045112  DT.100880380  DT.121011886  DT.40106426  DT.70102915 

    Selected AceView cDNA sequences (see all 787):

    AW150848 BU195290 AW069359 CA429063 CB113929 CB110114 BM450994 CB119061 
    BM971301 AI962999 AF498929 CB122915 BE673936 AA447942 CD108335 NM_004161 
    CR616184 BC000905 CB115968 BU186557 BU170821 BM783973 AV702665 BP358052 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RAB1A (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e
    SP1:                                            -     -                 -     -           -                                             
    SP2:                                                                    -     -           -                                             
    SP3:                                            -     -                 -     -     -     -     -     -                                 
    SP4:                                            -     -           -     -     -     -     -                                             
    SP5:                                            -     -                 -     -                                                         


    ECgene alternative splicing isoforms for RAB1A

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RAB1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATAAAGTTT
    RAB1A Expression
    About this image


    RAB1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    RAB1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.310645
        Custom PCR Arrays for RAB1A
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RAB1A gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab11 , 5 RAB1, member RAS oncogene family1, 5 95.61(n)1
    100(a)1
      11 (12.92 cM)5
    193241  NM_008996.31  NP_033022.11 
     202014325 
    chicken
    (Gallus gallus)
    Aves RAB1A1 RAB1A, member RAS oncogene family 91.38(n)
    99.51(a)
      421273  NM_001270662.1  NP_001257591.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    79(a)
    many ↔ many
    GL343635.1(211685-218143)
    African clawed frog
    (Xenopus laevis)
    Amphibia rab1-prov2 RAB1, member RAS oncogene family 87.85(n)    BC045014.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb53a022 Danio rerio cDNA clone MGC55751 IMAGE3816472, complete more 82.74(n)    BC050239.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rab11 , 3 Rho small monomeric GTPase3
    Rab11
    84(a)
    (best of 3)3
    71.57(n)1
    85.29(a)1
      93D23
    425241  NM_169953.21  NP_732610.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rab-11 , 3 rab-11 79(a)
    (best of 4)3
    67.65(n)1
    82.76(a)1
      V(1262845-1263838)3
    1786201  NM_070996.41  NP_503397.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YPT1(YFL038C)4
    YPT11
    Rab family GTPase, involved in the ER-to-Golgi step more4
    YPT11
    62.71(n)1
    72.28(a)1
      6(55986-55366)4
    8505051, 4  NP_116615.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RA-51 RA-5 67.99(n)
    77.11(a)
      837023  NM_100093.3  NP_171715.1 
    rice
    (Oryza sativa)
    Liliopsida Os.68022 Ric1 76.62(n)    NM_193488.1 


    ENSEMBL Gene Tree for RAB1A (if available)
    TreeFam Gene Tree for RAB1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAB1A gene
    RAB102  RAB3B2  RAB262  RAB8A2  RAB3D2  RAB372  RAB3A2  RAB8B2  
    RAB1B2  RAB122  RAB132  RAB3C2  
    Selected SIMAP similar genes for RAB1A using alignment to 5 protein entries:     RAB1A_HUMAN (see all proteins) (see all similar genes):
    rab1b    DKFZp686J06205    RAB8B    RAB10    RAB1B    RAB1C
    RAB8A    RAB36    RAB15    RAB30    RAB13    RAB3A
    RAB6A'    DKFZp686J07132    RAB43    KRAS    RANP1    RAB5C

    RAB1A for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RAB1A
    PGOHUM00000240462 PGOHUM00000243276


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RAB1A (see all 995)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1890283041,2
    --65225666(+) TACTCA/GGGAGG 2 -- us2k10--------
    rs1405975721,2
    --65225669(+) TCGGGA/TGGCTG 2 -- us2k10--------
    rs118842051,2
    C,F,H--65314671(+) AGATGC/GATTTA 2 -- ut31 ese36Minor allele frequency- G:0.14NA WA 262
    rs1825412221,2
    --65314791(+) GAACCA/GCTGAA 2 -- ut310--------
    rs1422859181,2
    --65314802(+) GTTGGC/TTAAAT 2 -- ut310--------
    rs76006161,2
    C,F,A--65314864(+) AGAAAG/ACAAAT 2 -- ut31 ese31Minor allele frequency- A:0.09WA 118
    rs1143743701,2
    F--65314877(+) TGGATG/ACTGCT 2 -- ut311Minor allele frequency- A:0.01WA 118
    rs1851206841,2
    --65314899(+) CTAGAA/GTACCT 2 -- ut310--------
    rs1911159961,2
    --65315217(+) CTTTAC/TGCATG 2 -- ut310--------
    rs756698661,2
    C--65315309(+) ATGCCA/CATATA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for RAB1A (65297835 - 65357435 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RAB1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1784939CNV Insertion17803354
    esv271114CNV Insertion20981092
    esv272265CNV Insertion20981092
    esv1007213CNV Insertion20482838
    nsv819395CNV Loss19587683
    nsv834246CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 179508    OMIM disorders: --

    16 diseases for RAB1A:    
    About MalaCards
    rectum adenocarcinoma    choroideremia    legionnaires' disease    legionellosis
    spinal muscular atrophy    rabies    muscular atrophy    choroiditis
    herpes simplex    hepatitis c virus    insulin resistance    hepatitis c
    adenocarcinoma    hepatitis    malaria    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for RAB1A:
    Choroideremia     Legionnaires' disease     Rectum adenocarcinoma

    RAB1A for disorders           About GeneDecksing


    Export disorders for RAB1A 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)
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    PubMed articles for RAB1A gene, integrated from 10 sources (see all 94):
    (articles sorted by number of sources associating them with RAB1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human Rab genes encode a family of GTP-binding proteins related to yeast YPT1 and SEC4 products involved in secretion. (PubMed id 2501306)1, 2, 3 Zahraoui A.... Tavitian A. (J. Biol. Chem. 1989)
    2. The Legionella pneumophila GTPase activating protein LepB accelerates Rab1 deactivation by a non-canonical hydrolytic mechanism. (PubMed id 23821544)1, 2 Mishra A.K.... Lambright D.G. (J. Biol. Chem. 2013)
    3. Rab1a and Rab5a preferentially bind to binary lipid compositions with higher stored curvature elastic energy. (PubMed id 23815289)1, 2 Kirsten M.L.... Ces O. (Mol. Membr. Biol. 2013)
    4. Structural mechanism of host Rab1 activation by the bifunctional Legionella type IV effector SidM/DrrA. (PubMed id 20176951)1, 2 Zhu Y....Shao F. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    5. Regulation of Integrin I^ 1 recycling to lipid rafts by Rab1a to promote cell migration. (PubMed id 20639577)1, 2 Wang C....Guan J.L. (J. Biol. Chem. 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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. (Genome Res. 2004)
    8. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    9. Rab geranylgeranyl transferase catalyzes the geranylgeranylation of adjacent cysteines in the small GTPases Rab1A, Rab3A, and Rab5A. (PubMed id 7991565)1, 2 Farnsworth C.C.... Glomset J.A. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    10. Phosphorylation of two small GTP-binding proteins of the Rab family by p34cdc2. (PubMed id 1902553)1, 2 Bailly E.... Bornens M. (Nature 1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 5861 HGNC: 9758 AceView: RAB1A Ensembl:ENSG00000138069 euGenes: HUgn5861
    ECgene: RAB1A Kegg: 5861 H-InvDB: RAB1A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RAB1A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB1A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAB1A gene:
    Search GeneIP for patents involving RAB1A

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



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