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

Gene ID: 93594, updated on 3-Apr-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
Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 3.1), lymph node (RPKM 2.9) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123072707..123165173)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124203816..124296306)
105.20220307 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 family with sequence similarity 83 member A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:124209501-124210245 Neighboring gene FAM83A antisense RNA 1

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
  • 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. 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
  2. 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
  3. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
  4. 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
  5. Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B. Hunter MR, et al. J Mol Biol, 2018 Jul 6. PMID 29778605, Free PMC Article

See all (27) 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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
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_2023_10

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

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