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

Gene ID: 93594, updated on 6-Nov-2022

Summary

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
NEW
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Try the new Transcript table

Genomic context

See TBC1D31 in Genome Data Viewer
Location:
8q24.13
Exon count:
25
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123072707..123165173)
110 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 RNY4 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 15016 Neighboring gene high mobility group box 1 pseudogene 19 Neighboring gene tRNA-Met (anticodon CAT) 1-1 Neighboring gene Sharpr-MPRA regulatory region 4427 Neighboring gene small nucleolar RNA U3 Neighboring gene family with sequence similarity 83 member A

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001145088.2NP_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/Swiss-Prot
    Q96DN5
    Related
    ENSP00000312701.5, ENST00000327098.9
    Conserved Domains (5) summary
    COG2319
    Location:34346
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:4681
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:469609
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl02567
    Location:39334
    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:709838
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  2. NM_001330606.2NP_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
    Related
    ENSP00000429334.1, ENST00000522420.5
  3. NM_001363148.1NP_001350077.1  TBC1 domain family member 31 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC100873
    Conserved Domains (4) summary
    sd00039
    Location:4681
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:428605
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25539
    Location:39334
    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:690966
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001363149.1NP_001350078.1  TBC1 domain family member 31 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC100873, BQ436515
    Conserved Domains (4) summary
    sd00039
    Location:3671
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:418595
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25539
    Location:29324
    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:678951
    ERM; Ezrin/radixin/moesin family
  5. NM_001363150.1NP_001350079.1  TBC1 domain family member 31 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC100873
    Conserved Domains (4) summary
    sd00039
    Location:4681
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:428605
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25539
    Location:39334
    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:6811000
    SMC_N; RecF/RecN/SMC N terminal domain
  6. NM_001363151.2NP_001350080.1  TBC1 domain family member 31 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC068228, AC100873
    Conserved Domains (4) summary
    sd00039
    Location:4681
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:428605
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25539
    Location:39334
    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:649963
    SMC_N; RecF/RecN/SMC N terminal domain
  7. NM_001363152.1NP_001350081.1  TBC1 domain family member 31 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC100873
    Conserved Domains (4) summary
    sd00039
    Location:2560
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:323500
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25539
    Location:10229
    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:576895
    SMC_N; RecF/RecN/SMC N terminal domain
  8. NM_001363153.1NP_001350082.1  TBC1 domain family member 31 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC100873
    Conserved Domains (4) summary
    sd00039
    Location:4681
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:428605
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25539
    Location:39334
    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:637851
    V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit
  9. NM_001363154.1NP_001350083.1  TBC1 domain family member 31 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC100873
    Conserved Domains (4) summary
    sd00039
    Location:2560
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:323500
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25539
    Location:10229
    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:597794
    V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit
  10. NM_001363155.1NP_001350084.1  TBC1 domain family member 31 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC100873
    Conserved Domains (4) summary
    sd00039
    Location:2560
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:323500
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl25539
    Location:10229
    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:585861
    SMC_N; RecF/RecN/SMC N terminal domain
  11. NM_001363156.1NP_001350085.1  TBC1 domain family member 31 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC100873
    Conserved Domains (2) summary
    cl02495
    Location:33105
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl26511
    Location:196500
    Neuromodulin_N; Gap junction protein N-terminal region
  12. NM_145647.4NP_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
    Q8TBP9, Q96DN5
    Related
    ENSP00000287380.1, ENST00000287380.6
    Conserved Domains (6) summary
    COG2319
    Location:34346
    WD40; WD40 repeat [General function prediction only]
    pfam13868
    Location:684960
    TPH; Trichohyalin-plectin-homology domain
    sd00039
    Location:4681
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:469609
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl02567
    Location:39334
    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:713838
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011517379.3XP_011515681.1  TBC1 domain family member 31 isoform X1

    Conserved Domains (6) summary
    COG2319
    Location:34346
    WD40; WD40 repeat [General function prediction only]
    pfam13868
    Location:684960
    TPH; Trichohyalin-plectin-homology domain
    sd00039
    Location:4681
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:469609
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl02567
    Location:39334
    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:713838
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  2. XM_047422429.1XP_047278385.1  TBC1 domain family member 31 isoform X8

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

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

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

    See identical proteins and their annotated locations for XP_005251161.1

    Conserved Domains (5) summary
    COG2319
    Location:34346
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:4681
    7WD40; WD40 repeat [structural motif]
    cl02495
    Location:469609
    RabGAP-TBC; Rab-GTPase-TBC domain
    cl02567
    Location:39334
    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:634759
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  6. XM_047422428.1XP_047278384.1  TBC1 domain family member 31 isoform X7

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

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

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

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

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

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

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

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

  15. XM_047422436.1XP_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)