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RAB41 Gene

protein-coding   GIFtS: 44
GCID: GC0XP069502

RAB41, Member RAS Oncogene Family

(Previous names: RAB41, member RAS homolog family)
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(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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Aliases
RAB41, Member RAS Oncogene Family1 2
RAB41, Member RAS Homolog Family1 2
Ras-Related Protein Rab-412

External Ids:    HGNC: 182931   Entrez Gene: 3475172   Ensembl: ENSG000001471277   UniProtKB: Q5JT253   

Export aliases for RAB41 gene to outside databases

Previous GC identifers: GC00U991172 GC0XP068369 GC0XP069285 GC0XP069418 GC0XP063322


(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 RAB41 Gene:
This gene encodes a small GTP-binding protein that belongs to the largest family within the Ras superfamily. These
proteins function as regulators of membrane trafficking. They cycle between inactive GDP-bound and activated
GTP-bound states, which is controlled by GTP hydrolysis-activating proteins (GAPs). This family member can be
activated by the GAP protein RN-Tre, and it is localized to the Golgi complex. (provided by RefSeq, May 2010)

GeneCards Summary for RAB41 Gene:
RAB41 (RAB41, member RAS oncogene family) is a protein-coding gene. GO annotations related to this gene include GTP binding. An important paralog of this gene is RAB6C.

UniProtKB/Swiss-Prot: RAB41_HUMAN, Q5JT25
Function: Required for normal Golgi ribbon organization and ER-to-Golgi trafficking




(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 at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011651.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAB41 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   Tal-1beta   E47   Hand1   ARP-1   AP-2alpha isoform 4   AP-2alpha   ITF-2   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB41 promoter sequence
   Search Chromatin IP Primers for RAB41

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB41


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

Entrez Gene cytogenetic band: Xq13.1   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13.1

RAB41 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB41 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP069502:  view genomic region     (about GC identifiers)

Start:
69,501,943 bp from pter      End:
69,504,852 bp from pter
Size:
2,910 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RAB41_HUMAN, Q5JT25 (See protein sequence)
Recommended Name: Ras-related protein Rab-41  
Size: 222 amino acids; 25038 Da
Sequence caution: Sequence=CAI41489.1; Type=Erroneous initiation;
Secondary accessions: Q17RQ0
Alternative splicing: 2 isoforms:  Q5JT25-1   Q5JT25-2   

Explore the universe of human proteins at neXtProt for RAB41: NX_Q5JT25

Explore proteomics data for RAB41 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RAB41 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001027898.2  
    ENSEMBL proteins: 
     ENSP00000421643   ENSP00000363597   ENSP00000276066  

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    antibodies-online proteins for RAB41 (2 products) 

     
    antibodies-online peptides for RAB41

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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 Q5JT25

    ProtoNet protein and cluster: Q5JT25

    UniProtKB/Swiss-Prot: RAB41_HUMAN, Q5JT25
    Similarity: Belongs to the small GTPase superfamily. Rab family


    Find genes that share domains with RAB41           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAB41_HUMAN, Q5JT25
    Function: Required for normal Golgi ribbon organization and ER-to-Golgi trafficking

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity ----
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with RAB41           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RAB41:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RAB41

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate RAB41:
    hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmidRAB41 3' UTR sequence
    Inhib. RNA
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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
    RAB41_HUMAN, Q5JT25: Cytoplasm. Note=punctate localization concentrated in ruffled regions at the cell periphery
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    cytoskeleton1
    endosome1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with RAB41           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAB41
    Interactions:

        Search GeneGlobe Interaction Network for RAB41

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

    Selected Interacting proteins for RAB41 (ENSP000003635974) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA1432ENSP000004022404STRING: ENSP00000402240
    SCFD1ENSP000003907834STRING: ENSP00000390783
    RGP1ENSP000004094664STRING: ENSP00000409466
    SYS1ENSP000002439184STRING: ENSP00000243918
    TBC1D5ENSP000004029354STRING: ENSP00000402935
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0006886intracellular protein transport ----
    GO:0006913nucleocytoplasmic transport ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction IEA--

    Find genes that share ontologies with RAB41           About GenesLikeMe



    (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 RAB41



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RAB41 gene: 
    NM_001032726.2  

    Unigene Cluster for RAB41:

    RAB41, member RAS oncogene family
    Hs.276327  [show with all ESTs]
    Unigene Representative Sequence: NM_001032726
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509895 ENST00000374473 ENST00000276066(uc010nkv.3)
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate RAB41:
    hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmidRAB41 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat RAB41
      QuantiFast Probe-based Assays in human, mouse, rat RAB41

    Additional mRNA sequence: 

    BC117239.1 BC143888.1 

    2 DOTS entries:

    DT.75149660  DT.99957168 

    4 AceView cDNA sequences:

    BM931597 AI126463 BQ638192 BM931699 

    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™, 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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    RAB41 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCACTTACT
    RAB41 Expression
    About this image


    RAB41 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    RAB41 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB41 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.276327

    UniProtKB/Swiss-Prot: RAB41_HUMAN, Q5JT25
    Tissue specificity: Widely expressed in brain, testis, lung, heart, ovary, colon, kidney, uterus and spleen but
    not in liver

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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 animals and fungi.

    Orthologs for RAB41 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia RAB411 RAB41, member RAS oncogene family 99.25(n)
    98.64(a)
      745949  XM_003954016.1  XP_003954065.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:636376
    zgc:63637
    62(a)
    many ↔ many
    14(34255704-34272304) ENSDARG00000029885
    fruit fly
    (Drosophila melanogaster)
    Insecta Rab66
    Rab-protein 6
    64(a)
    1 → many
    2L(12107287-12109124)
    worm
    (Caenorhabditis elegans)
    Secernentea rab-6.26
    Protein RAB-6.2 (rab-6.2) mRNA, complete cds
    62(a)
    1 → many
    X(17222475-17224577) WBGene00004270
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YPT66
    Rab family GTPase, Ras-like GTP binding protein in...
    51(a)
    1 → many
    XII(668244-668891) YLR262C


    ENSEMBL Gene Tree for RAB41 (if available)
    TreeFam Gene Tree for RAB41 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAB41 gene
    RAB6C2  RAB6A2  RAB362  RAB342  RAB6B2  
    Selected SIMAP similar genes for RAB41 using alignment to 2 protein entries:     RAB41_HUMAN (see all proteins) (see all similar genes):
    RAB6B    RAB6A'    RAB6A    RAB6C    RAB17    RAB5C
    RAB39B    RAB3A    RAB3C    RAB7A    RAB8B    RAB11B
    RAB12    RAB44    DKFZp313C1541    RAB13    RAB14    RAB25

    Find genes that share paralogs with RAB41           About GenesLikeMe



    (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 RAB41 (see all 125)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1414869941,2
    --69504886(+) CTATAC/TCTATA 1 -- ds50010--------
    rs1122021691,2
    C--69508027(+) TAGACA/C/TGGGAA 1 -- us2k11CSA 1
    rs1816421941,2
    --69508191(+) CCCAAC/TCAAAC 1 -- us2k10--------
    rs1847484921,2
    --69508312(+) CCCTCA/CTCCCC 1 -- us2k10--------
    rs1475072631,2
    C--69508351(+) TTCCCA/GCTGCT 1 -- us2k10--------
    rs1894688511,2
    C--69508435(+) ACTTGA/GGCAAG 1 -- us2k10--------
    rs1808782301,2
    C--69508497(+) GTCTGA/GGGGCA 1 -- us2k10--------
    rs38188611,2
    C,F,H--69508557(-) TCTCCT/CCTCTC 1 -- us2k1 trp313Minor allele frequency- C:0.22NS EA CSA 1977
    rs1512662401,2
    F--69508609(+) AGCTAC/TCCTTG 1 -- us2k11Minor allele frequency- T:0.00NA 4552
    rs1405052501,2
    C,F--69508628(+) CCATCC/G/TGAAGC 1 -- us2k11NA 4548

    HapMap Linkage Disequilibrium report for RAB41 (69501943 - 69504852 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RAB41:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv525258CNV Gain19592680
    esv1584074OTHER Inversion17803354

    Locus Specific Mutation Databases (LSDB): RAB41

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for RAB41

    (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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      --

    (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 RAB41 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with RAB41)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    2. Evolution of the Rab family of small GTP-binding proteins. (PubMed id 11697911)1, 3 Pereira-Leal J.B. and Seabra M.C. (J. Mol. Biol. 2001)
    3. Rab41 is a novel regulator of Golgi apparatus organization that is needed for ER-to-Golgi trafficking and cell growth. (PubMed id 23936529)2 Liu S.... Storrie B. (PLoS ONE 2013)
    4. A GTPase-activating protein controls Rab5 function in endocytic trafficking. (PubMed id 16086013)1 Haas A.K....Barr F.A. (Nat. Cell Biol. 2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Isolation, expression pattern of a novel human RAB gene RAB41 and characterization of its intronless homolog RAB41P. (PubMed id 15018353)2 Guo J.H.... Zhao S.Y. (DNA Seq. 2003)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 347517 HGNC: 18293 AceView: RAB41 Ensembl:ENSG00000147127 euGenes: HUgn347517
    ECgene: RAB41 H-InvDB: RAB41

    (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 RAB41 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB41 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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