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TBC1D31 Gene

protein-coding   GIFtS: 36
GCID: GC08P124055

TBC1 Domain Family, Member 31

(Previous name: WD repeat domain 67)
(Previous symbol: WDR67)
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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
TBC1 Domain Family, Member 311 2
WDR671 2 3
WD Repeat Domain 671 2
WD Repeat-Containing Protein 672 3
Gm852
TBC1 Domain Family Member 312

External Ids:    HGNC: 308881   Entrez Gene: 935942   Ensembl: ENSG000001567877   UniProtKB: Q96DN53   

Export aliases for TBC1D31 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TBC1D31 Gene:
TBC1D31 (TBC1 domain family, member 31) is a protein-coding gene. GO annotations related to this gene include Rab GTPase activator activity.


(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for TBC1D31
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D31 promoter sequence
   Search Chromatin IP Primers for TBC1D31

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D31


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

Entrez Gene cytogenetic band: 8q24.13   Ensembl cytogenetic band:  8q24.13   HGNC cytogenetic band: 8q24.13

TBC1D31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D31 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P124055:  view genomic region     (about GC identifiers)

Start:
124,054,208 bp from pter      End:
124,164,393 bp from pter
Size:
110,186 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: TBC31_HUMAN, Q96DN5 (See protein sequence)
Recommended Name: TBC1 domain family member 31  
Size: 1066 amino acids; 124189 Da
Sequence caution: Sequence=AAH27237.1; Type=Erroneous initiation;
Secondary accessions: B7ZL19 Q2M2J9 Q3MIR6 Q8TBP9
Alternative splicing: 3 isoforms:  Q96DN5-1   Q96DN5-2   Q96DN5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D31: NX_Q96DN5

Explore proteomics data for TBC1D31 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys41, Lys682, Lys729, Lys782, Lys833, Lys844, Lys866, Lys877
  • Modification sites at PhosphoSitePlus

  • See TBC1D31 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138560.1  NP_663622.2  

    ENSEMBL proteins: 
     ENSP00000428486   ENSP00000287380   ENSP00000430927   ENSP00000312701   ENSP00000429334  
     ENSP00000430628   ENSP00000440772   ENSP00000428891   ENSP00000427848   ENSP00000432525  
     ENSP00000429494   ENSP00000432064   ENSP00000308358   ENSP00000367320  

    TBC1D31 Human Recombinant Protein Products:

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    Novus Biologicals TBC1D31 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for TBC1D31 

     
    Search antibodies-online for proteins for TBC1D31 

     
    Search antibodies-online for peptides for TBC1D31

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    antibodies-online antibodies for TBC1D31 (2 products) 

    TBC1D31 Assay Products:

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    Search eBioscience for ELISAs for TBC1D31 
    antibodies-online kits for TBC1D31 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    5 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR000195 Rab-GTPase-TBC_dom
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q96DN5

    ProtoNet protein and cluster: Q96DN5

    UniProtKB/Swiss-Prot: TBC31_HUMAN, Q96DN5
    Similarity: Contains 1 Rab-GAP TBC domain
    Similarity: Contains 5 WD repeats


    Find genes that share domains with TBC1D31           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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with TBC1D31           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TBC1D31:
     Big cells 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TBC1D31

    miRNA
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    miRTarBase miRNAs that target TBC1D31:
    hsa-let-7e-5p (MIRT051413), hsa-mir-615-3p (MIRT040140), hsa-mir-215-5p (MIRT024352), hsa-mir-192-5p (MIRT026384)

    Block miRNA regulation of human, mouse, rat TBC1D31 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate TBC1D31
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D31 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat TBC1D31

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D31


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--

    Find genes that share ontologies with TBC1D31           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 TBC1D31
    Interactions:

        Search GeneGlobe Interaction Network for TBC1D31

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

    Selected Interacting proteins for TBC1D31 (ENSP000002873804) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIN1ENSP000002479704STRING: ENSP00000247970
    TP53ENSP000002693054STRING: ENSP00000269305
    PSMD12ENSP000003484424STRING: ENSP00000348442
    KIF11ENSP000002607314STRING: ENSP00000260731
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032313regulation of Rab GTPase activity ----

    Find genes that share ontologies with TBC1D31           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 TBC1D31 (TBC31)



    (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 TBC1D31 gene (2 alternative transcripts): 
    NM_001145088.1  NM_145647.3  

    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000520368 ENST00000287380(uc003ypp.2 uc011lih.2 uc003yps.2)
    ENST00000519418 ENST00000327098 ENST00000522420 ENST00000518099(uc003ypo.1)
    ENST00000521676(uc003ypu.2) ENST00000524307 ENST00000522276 ENST00000518684
    ENST00000521980 ENST00000521914(uc003ypr.3) ENST00000518805 ENST00000518577
    ENST00000518866 ENST00000309336(uc011lig.2 uc003ypq.2) ENST00000378080

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidTBC1D31 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TBC1D31
    Predesigned siRNA for gene silencing in human, mouse, rat TBC1D31
    Clone
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    OriGene clones in human, mouse for TBC1D31 (see all 14)
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      QuantiTect SYBR Green Assays in human, mouse, rat TBC1D31
      QuantiFast Probe-based Assays in human, mouse, rat TBC1D31

    Selected AceView cDNA sequences (see all 75):

    AA237083 CA429516 BM852752 BM931015 AK094612 BC026969 BQ436515 CR594827 
    BM823743 BM684501 CR596842 AA405338 CB856456 CB131082 AK025686 AI017564 
    AA262702 BX103373 AA405339 BX103539 AI375390 BX364001 AK092041 N77703 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D31 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a ·
    SP1:                    -     -                 -                                   -           -     -                                                     -   
    SP2:                    -     -           -     -                                   -           -     -                                                     -   
    SP3:                                                                                                                                                        -   
    SP4:                                                                                                                                                            
    SP5:                    -     -                 -                                   -                                                                           

    ExUns: 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
    SP1:                                                            
    SP2:                                      -                     
    SP3:  -     -                                                   
    SP4:                                      -                     
    SP5:                                                            


    ECgene alternative splicing isoforms for TBC1D31

    (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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    TBC1D31 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TBC1D31 Expression
    About this image

    TBC1D31 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBC1D31 Protein Expression
        Custom PCR Arrays for TBC1D31
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TBC1D31 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wdr675
    Tbc1d311
    WD repeat domain 675
    TBC1 domain family, member 311
    82.7(n)1
    82.13(a)1
      15 (24.08 cM)5
    2105441  NM_001081396.21  NP_001074865.21 
     579121995 
    chicken
    (Gallus gallus)
    Aves WDR671 WD repeat domain 67 71.62(n)
    68.59(a)
      420349  XM_004940019.1  XP_004940076.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D316
    TBC1 domain family, member 31
    68(a)
    1 ↔ 1
    GL343581.1(405688-433827)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.75792 Xenopus laevis transcribed sequences 68.13(n)    BX844238.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbc1d311 TBC1 domain family, member 31 60.9(n)
    57.02(a)
      563134  XM_689914.3  XP_695006.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG168966
    --
    22(a)
    1 ↔ 1
    2R(20758930-20762435)


    ENSEMBL Gene Tree for TBC1D31 (if available)
    TreeFam Gene Tree for TBC1D31 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBC1D31 gene
    1 SIMAP similar gene for TBC1D31 using alignment to 12 protein entries:     TBC31_HUMAN (see all proteins):
    WDR67

    Find genes that share paralogs with TBC1D31           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 TBC1D31 (see all 1606)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1430323681,2
    C--124082994(+) TCTTCA/GGCCTG 2 -- us2k10--------
    rs1882542581,2
    --124083092(+) TGAGAC/TTGAAT 2 -- us2k10--------
    rs1918032241,2
    --124083198(+) GCTTCC/TGATAA 2 -- us2k10--------
    rs1481912861,2
    --124083293(+) ATTCTA/GAGTTT 2 -- us2k10--------
    rs770815001,2
    C,F--124083328(+) TACATG/ATAGTT 2 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1413764441,2
    --124083414(+) CTGATA/CTCTCA 2 -- us2k10--------
    rs1470059641,2
    --124083521(+) ACCACA/GACCAT 2 -- us2k10--------
    rs1835030251,2
    --124083621(+) TAATAC/TTAGTA 2 -- us2k10--------
    rs78421631,2
    C,F,H--124083665(+) aaataT/Catgtc 2 -- us2k118Minor allele frequency- C:0.12NS EA NA WA 2224
    rs1124147711,2
    C,F--124083904(+) GAGAAT/CGGAGC 2 -- us2k12Minor allele frequency- C:0.03CSA WA 120

    HapMap Linkage Disequilibrium report for TBC1D31 (124054208 - 124164393 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TBC1D31: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBC1D31
    DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D31

    (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 TBC1D31 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TBC1D31)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (Nature 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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      Query String
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    OMIM
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      (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: 93594 HGNC: 30888 AceView: MGC21654 Ensembl:ENSG00000156787 euGenes: HUgn93594
    ECgene: TBC1D31 H-InvDB: TBC1D31

    (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 TBC1D31 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TBC1D31 gene:
    Search GeneIP for patents involving TBC1D31

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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