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    TBC1D31 TBC1 domain family member 31 [ Homo sapiens (human) ]

    Gene ID: 93594, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TBC1D31provided by HGNC
    Official Full Name
    TBC1 domain family member 31provided by HGNC
    Primary source
    HGNC:HGNC:30888
    See related
    Ensembl:ENSG00000156787 AllianceGenome:HGNC:30888
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Gm85; WDR67
    Summary
    Enables molecular adaptor activity. Involved in cilium assembly. Located in centriolar satellite and ciliary basal body. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.1), lymph node (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D31 in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123072707..123165173)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124203816..124296306)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124084947..124177413)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902013 Neighboring gene derlin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27866 Neighboring gene RNY4 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19493 Neighboring gene Sharpr-MPRA regulatory region 15016 Neighboring gene high mobility group box 1 pseudogene 19 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:124160865-124162064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19494 Neighboring gene tRNA-Met (anticodon CAT) 1-1 Neighboring gene Sharpr-MPRA regulatory region 4427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:124186535-124187034 Neighboring gene small nucleolar RNA U3 Neighboring gene FAM83A antisense RNA 2 Neighboring gene family with sequence similarity 83 member A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT). Saygılı S, et al. Clin Genet, 2023 Dec. PMID 37468454
    2. The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation. Senatore E, et al. EMBO J, 2021 May 17. PMID 33934390, Free PMC Article
    3. Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly. Rodriguez-Calado S, et al. Int J Mol Sci, 2023 Jan 9. PMID 36674791, Free PMC Article
    4. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
    5. Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins. Dho SE, et al. Sci Rep, 2019 Aug 28. PMID 31462741, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).
      Title: A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC21654, MGC104222, MGC126773, MGC138159

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 31
    Names
    WD repeat domain 67
    WD repeat-containing protein 67

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145088.2 → NP_001138560.1  TBC1 domain family member 31 isoform 2

      See identical proteins and their annotated locations for NP_001138560.1

      Status: VALIDATED

      Source sequence(s)
      AK056434, BC143525, CA429516
      Consensus CDS
      CCDS47916.1
      UniProtKB/TrEMBL
      E7EWW7
      Related
      ENSP00000312701.5, ENST00000327098.9
      Conserved Domains (5) summary
      COG2319
      Location:34 → 346
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:46 → 81
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:469 → 609
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl02567
      Location:39 → 334
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl23750
      Location:709 → 838
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    2. NM_001330606.2 → NP_001317535.1  TBC1 domain family member 31 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC100873, BC143523, BG771416, U43374
      Consensus CDS
      CCDS83320.1
      UniProtKB/TrEMBL
      E7ERK7, E7EWW7
      Related
      ENSP00000429334.1, ENST00000522420.5

    3. NM_001363148.1 → NP_001350077.1  TBC1 domain family member 31 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC100873
      UniProtKB/TrEMBL
      E7EWW7
      Conserved Domains (4) summary
      sd00039
      Location:46 → 81
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:428 → 605
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl25539
      Location:39 → 334
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl25732
      Location:690 → 966
      SMC_N; RecF/RecN/SMC N terminal domain

    4. NM_001363149.1 → NP_001350078.1  TBC1 domain family member 31 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC100873, BQ436515
      UniProtKB/TrEMBL
      E7EWW7
      Conserved Domains (4) summary
      sd00039
      Location:36 → 71
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:418 → 595
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl25539
      Location:29 → 324
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl25742
      Location:678 → 951
      ERM; Ezrin/radixin/moesin family

    5. NM_001363150.1 → NP_001350079.1  TBC1 domain family member 31 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC100873
      UniProtKB/TrEMBL
      E7EWW7
      Conserved Domains (4) summary
      sd00039
      Location:46 → 81
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:428 → 605
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl25539
      Location:39 → 334
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl25732
      Location:681 → 1000
      SMC_N; RecF/RecN/SMC N terminal domain

    6. NM_001363151.2 → NP_001350080.1  TBC1 domain family member 31 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC068228, AC100873
      UniProtKB/TrEMBL
      E7EWW7
      Conserved Domains (4) summary
      sd00039
      Location:46 → 81
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:428 → 605
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl25539
      Location:39 → 334
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl25732
      Location:649 → 963
      SMC_N; RecF/RecN/SMC N terminal domain

    7. NM_001363152.1 → NP_001350081.1  TBC1 domain family member 31 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC100873
      UniProtKB/TrEMBL
      E7EWW7
      Conserved Domains (4) summary
      sd00039
      Location:25 → 60
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:323 → 500
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl25539
      Location:10 → 229
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl25732
      Location:576 → 895
      SMC_N; RecF/RecN/SMC N terminal domain

    8. NM_001363153.1 → NP_001350082.1  TBC1 domain family member 31 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC100873
      UniProtKB/TrEMBL
      E7EWW7
      Conserved Domains (4) summary
      sd00039
      Location:46 → 81
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:428 → 605
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl25539
      Location:39 → 334
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl25545
      Location:637 → 851
      V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit

    9. NM_001363154.1 → NP_001350083.1  TBC1 domain family member 31 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC100873
      UniProtKB/TrEMBL
      E7EWW7
      Conserved Domains (4) summary
      sd00039
      Location:25 → 60
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:323 → 500
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl25539
      Location:10 → 229
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl25545
      Location:597 → 794
      V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit

    10. NM_001363155.1 → NP_001350084.1  TBC1 domain family member 31 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC100873
      UniProtKB/TrEMBL
      E7EWW7
      Conserved Domains (4) summary
      sd00039
      Location:25 → 60
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:323 → 500
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl25539
      Location:10 → 229
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl25732
      Location:585 → 861
      SMC_N; RecF/RecN/SMC N terminal domain

    11. NM_001363156.1 → NP_001350085.1  TBC1 domain family member 31 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC100873
      Conserved Domains (2) summary
      cl02495
      Location:33 → 105
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl26511
      Location:196 → 500
      Neuromodulin_N; Gap junction protein N-terminal region

    12. NM_145647.4 → NP_663622.2  TBC1 domain family member 31 isoform 1

      See identical proteins and their annotated locations for NP_663622.2

      Status: VALIDATED

      Source sequence(s)
      AK056434, BC101724, BC143525, CA429516
      Consensus CDS
      CCDS6338.1
      UniProtKB/Swiss-Prot
      B7ZL19, Q2M2J9, Q3MIR6, Q8TBP9, Q96DN5
      UniProtKB/TrEMBL
      E7EWW7
      Related
      ENSP00000287380.1, ENST00000287380.6
      Conserved Domains (6) summary
      COG2319
      Location:34 → 346
      WD40; WD40 repeat [General function prediction only]
      pfam13868
      Location:684 → 960
      TPH; Trichohyalin-plectin-homology domain
      sd00039
      Location:46 → 81
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:469 → 609
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl02567
      Location:39 → 334
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl23750
      Location:713 → 838
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      123072707..123165173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517379.3 → XP_011515681.1  TBC1 domain family member 31 isoform X1

      UniProtKB/TrEMBL
      E7EWW7
      Conserved Domains (6) summary
      COG2319
      Location:34 → 346
      WD40; WD40 repeat [General function prediction only]
      pfam13868
      Location:684 → 960
      TPH; Trichohyalin-plectin-homology domain
      sd00039
      Location:46 → 81
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:469 → 609
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl02567
      Location:39 → 334
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl23750
      Location:713 → 838
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    2. XM_047422429.1 → XP_047278385.1  TBC1 domain family member 31 isoform X8

    3. XM_047422427.1 → XP_047278383.1  TBC1 domain family member 31 isoform X6

    4. XM_047422431.1 → XP_047278387.1  TBC1 domain family member 31 isoform X10

    5. XM_005251104.2 → XP_005251161.1  TBC1 domain family member 31 isoform X4

      See identical proteins and their annotated locations for XP_005251161.1

      UniProtKB/TrEMBL
      E7EWW7
      Conserved Domains (5) summary
      COG2319
      Location:34 → 346
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:46 → 81
      7WD40; WD40 repeat [structural motif]
      cl02495
      Location:469 → 609
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl02567
      Location:39 → 334
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl23750
      Location:634 → 759
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    6. XM_047422428.1 → XP_047278384.1  TBC1 domain family member 31 isoform X7

    7. XM_047422433.1 → XP_047278389.1  TBC1 domain family member 31 isoform X12

    8. XM_047422434.1 → XP_047278390.1  TBC1 domain family member 31 isoform X13

    9. XM_047422435.1 → XP_047278391.1  TBC1 domain family member 31 isoform X14

    10. XM_047422425.1 → XP_047278381.1  TBC1 domain family member 31 isoform X3

    11. XM_047422424.1 → XP_047278380.1  TBC1 domain family member 31 isoform X2

    12. XM_047422426.1 → XP_047278382.1  TBC1 domain family member 31 isoform X5

    13. XM_047422432.1 → XP_047278388.1  TBC1 domain family member 31 isoform X11

    14. XM_047422430.1 → XP_047278386.1  TBC1 domain family member 31 isoform X9

    15. XM_047422436.1 → XP_047278392.1  TBC1 domain family member 31 isoform X15

    RNA

    1. XR_001745622.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      124203816..124296306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361515.1 → XP_054217490.1  TBC1 domain family member 31 isoform X1

    2. XM_054361522.1 → XP_054217497.1  TBC1 domain family member 31 isoform X8

    3. XM_054361520.1 → XP_054217495.1  TBC1 domain family member 31 isoform X6

    4. XM_054361524.1 → XP_054217499.1  TBC1 domain family member 31 isoform X10

    5. XM_054361518.1 → XP_054217493.1  TBC1 domain family member 31 isoform X4

    6. XM_054361521.1 → XP_054217496.1  TBC1 domain family member 31 isoform X7

    7. XM_054361526.1 → XP_054217501.1  TBC1 domain family member 31 isoform X12

    8. XM_054361527.1 → XP_054217502.1  TBC1 domain family member 31 isoform X13

    9. XM_054361528.1 → XP_054217503.1  TBC1 domain family member 31 isoform X14

    10. XM_054361517.1 → XP_054217492.1  TBC1 domain family member 31 isoform X3

    11. XM_054361516.1 → XP_054217491.1  TBC1 domain family member 31 isoform X2

    12. XM_054361519.1 → XP_054217494.1  TBC1 domain family member 31 isoform X5

    13. XM_054361525.1 → XP_054217500.1  TBC1 domain family member 31 isoform X11

    14. XM_054361523.1 → XP_054217498.1  TBC1 domain family member 31 isoform X9

    15. XM_054361529.1 → XP_054217504.1  TBC1 domain family member 31 isoform X15

    RNA

    1. XR_008487896.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DN5.2 GenPept UniProtKB/Swiss-Prot:Q96DN5

    Gene LinkOut

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