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Protein

TBC1 domain family member 31

Gene

TBC1D31

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156787-MONOMER.
SignaLinkiQ96DN5.

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 31
Alternative name(s):
WD repeat-containing protein 67
Gene namesi
Name:TBC1D31
Synonyms:WDR67
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:30888. TBC1D31.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi93594.
OpenTargetsiENSG00000156787.
PharmGKBiPA142670600.

Polymorphism and mutation databases

BioMutaiTBC1D31.
DMDMi116242845.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000514201 – 1066TBC1 domain family member 31Add BLAST1066

Proteomic databases

MaxQBiQ96DN5.
PaxDbiQ96DN5.
PeptideAtlasiQ96DN5.
PRIDEiQ96DN5.

PTM databases

iPTMnetiQ96DN5.
PhosphoSitePlusiQ96DN5.

Expressioni

Gene expression databases

BgeeiENSG00000156787.
CleanExiHS_WDR67.
ExpressionAtlasiQ96DN5. baseline and differential.
GenevisibleiQ96DN5. HS.

Organism-specific databases

HPAiHPA023710.

Interactioni

Protein-protein interaction databases

BioGridi125037. 37 interactors.
IntActiQ96DN5. 18 interactors.
STRINGi9606.ENSP00000287380.

Structurei

3D structure databases

ProteinModelPortaliQ96DN5.
SMRiQ96DN5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati38 – 79WD 1Add BLAST42
Repeati124 – 162WD 2Add BLAST39
Repeati166 – 205WD 3Add BLAST40
Repeati211 – 253WD 4Add BLAST43
Repeati304 – 343WD 5Add BLAST40
Domaini424 – 599Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST176

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili728 – 861Sequence analysisAdd BLAST134
Coiled coili914 – 948Sequence analysisAdd BLAST35

Sequence similaritiesi

Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation
Contains 5 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0295. Eukaryota.
KOG1093. Eukaryota.
ENOG410Y4WQ. LUCA.
GeneTreeiENSGT00390000009741.
HOGENOMiHOG000007851.
HOVERGENiHBG056488.
InParanoidiQ96DN5.
OMAiYHLMETT.
OrthoDBiEOG091G04BV.
PhylomeDBiQ96DN5.
TreeFamiTF324799.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 1 hit.
SSF50978. SSF50978. 1 hit.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
PS00678. WD_REPEATS_1. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96DN5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQSTDLGNKE SGKIWHRKPS PATRDGIIVN IIHNTSDYHP KVLRFLNVAF
60 70 80 90 100
DGTGDCLIAG DHQGNIYVFD LHGNRFNLVQ RTAQACTALA FNLRRKSEFL
110 120 130 140 150
VALADYSIKC FDTVTKELVS WMRGHESSVF SISVHASGKY AITTSSDTAQ
160 170 180 190 200
LWDLDTFQRK RKLNIRQSVG IQKVFFLPLS NTILSCFKDN SIFAWECDTL
210 220 230 240 250
FCKYQLPAPP ESSSILYKVF AVTRDGRILA AGGKSNHLHL WCLEARQLFR
260 270 280 290 300
IIQMPTKVRA IRHLEFLPDS FDAGSNQVLG VLSQDGIMRF INMQTCKLLF
310 320 330 340 350
EIGSLDEGIS SSAISPHGRY IASIMENGSL NIYSVQALTQ EINKPPPPLV
360 370 380 390 400
KVIEDLPKNK LSSSDLKMKV TSGRVQQPAK SRESKMQTRI LKQDLTGDFE
410 420 430 440 450
SKKNELPDGL NKKRLQILLK GYGEYPTKYR MFIWRSLLQL PENHTAFSTL
460 470 480 490 500
IDKGTHVAFL NLQKKYPIKS RKLLRVLQRT LSALAHWSVI FSDTPYLPLL
510 520 530 540 550
AFPFVKLFQN NQLICFEVIA TLIINWCQHW FEYFPNPPIN ILSMIENVLA
560 570 580 590 600
FHDKELLQHF IDHDITSQLY AWPLLETVFS EVLTREEWLK LFDNIFSNHP
610 620 630 640 650
SFLLMTVVAY NICSRTPLLS CNLKDDFEFF FHHRNNLDIN VVIRQVYHLM
660 670 680 690 700
ETTPTDIHPD SMLNVFVALT KGQYPVFNQY PKFIVDYQTQ ERERIRNDEL
710 720 730 740 750
DYLRERQTVE DMQAKVDQQR VEDEAWYQKQ ELLRKAEETR REMLLQEEEK
760 770 780 790 800
MIQQRQRLAA VKRELKVKEM HLQDAARRRF LKLQQDQQEM ELRRLDDEIG
810 820 830 840 850
RKVYMRDREI AATARDLEMR QLELESQKRL YEKNLTENQE ALAKEMRADA
860 870 880 890 900
DAYRRKVDLE EHMFHKLIEA GETQSQKTQK VIKENLAKAE QACLNTDWQI
910 920 930 940 950
QSLHKQKCDD LQRNKCYQEV AKLLRENRRK EIEIINAMVE EEAKKWKEAE
960 970 980 990 1000
GKEFRLRSAK KASALSDASR KWFLKQEINA AVEHAENPCH KEEPRFQNEQ
1010 1020 1030 1040 1050
DSSCLPRTSQ LNDSSEMDPS TQISLNRRAV EWDTTGQNLI KKVRNLRQRL
1060
TARARHRCQT PHLLAA
Length:1,066
Mass (Da):124,189
Last modified:October 17, 2006 - v2
Checksum:iE94983F65D9E5A38
GO
Isoform 2 (identifier: Q96DN5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     880-944: Missing.

Note: No experimental confirmation available.
Show »
Length:1,001
Mass (Da):116,481
Checksum:i511757E564C103AB
GO
Isoform 3 (identifier: Q96DN5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     802-832: Missing.
     880-944: Missing.

Note: No experimental confirmation available.
Show »
Length:970
Mass (Da):112,656
Checksum:i9323DDFBB78E1BEB
GO

Sequence cautioni

The sequence AAH27237 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti358K → N in BAB71182 (PubMed:14702039).Curated1
Sequence conflicti718Q → S in AAH27237 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027960414R → H.Corresponds to variant rs16897967dbSNPEnsembl.1
Natural variantiVAR_027961709V → F.Corresponds to variant rs16898023dbSNPEnsembl.1
Natural variantiVAR_0576321065A → T.Corresponds to variant rs34994118dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043414802 – 832Missing in isoform 3. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_016184880 – 944Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST65

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056434 mRNA. Translation: BAB71182.1.
AC100873 Genomic DNA. No translation available.
AC104316 Genomic DNA. No translation available.
BC027237 mRNA. Translation: AAH27237.1. Different initiation.
BC101724 mRNA. Translation: AAI01725.1.
BC111954 mRNA. Translation: AAI11955.1.
BC143525 mRNA. Translation: AAI43526.1.
CCDSiCCDS47916.1. [Q96DN5-3]
CCDS6338.1. [Q96DN5-1]
RefSeqiNP_001138560.1. NM_001145088.1. [Q96DN5-3]
NP_663622.2. NM_145647.3. [Q96DN5-1]
XP_005251160.1. XM_005251103.1. [Q96DN5-2]
UniGeneiHs.492716.

Genome annotation databases

EnsembliENST00000287380; ENSP00000287380; ENSG00000156787. [Q96DN5-1]
ENST00000327098; ENSP00000312701; ENSG00000156787. [Q96DN5-3]
GeneIDi93594.
KEGGihsa:93594.
UCSCiuc003ypp.3. human. [Q96DN5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056434 mRNA. Translation: BAB71182.1.
AC100873 Genomic DNA. No translation available.
AC104316 Genomic DNA. No translation available.
BC027237 mRNA. Translation: AAH27237.1. Different initiation.
BC101724 mRNA. Translation: AAI01725.1.
BC111954 mRNA. Translation: AAI11955.1.
BC143525 mRNA. Translation: AAI43526.1.
CCDSiCCDS47916.1. [Q96DN5-3]
CCDS6338.1. [Q96DN5-1]
RefSeqiNP_001138560.1. NM_001145088.1. [Q96DN5-3]
NP_663622.2. NM_145647.3. [Q96DN5-1]
XP_005251160.1. XM_005251103.1. [Q96DN5-2]
UniGeneiHs.492716.

3D structure databases

ProteinModelPortaliQ96DN5.
SMRiQ96DN5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125037. 37 interactors.
IntActiQ96DN5. 18 interactors.
STRINGi9606.ENSP00000287380.

PTM databases

iPTMnetiQ96DN5.
PhosphoSitePlusiQ96DN5.

Polymorphism and mutation databases

BioMutaiTBC1D31.
DMDMi116242845.

Proteomic databases

MaxQBiQ96DN5.
PaxDbiQ96DN5.
PeptideAtlasiQ96DN5.
PRIDEiQ96DN5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287380; ENSP00000287380; ENSG00000156787. [Q96DN5-1]
ENST00000327098; ENSP00000312701; ENSG00000156787. [Q96DN5-3]
GeneIDi93594.
KEGGihsa:93594.
UCSCiuc003ypp.3. human. [Q96DN5-1]

Organism-specific databases

CTDi93594.
DisGeNETi93594.
GeneCardsiTBC1D31.
HGNCiHGNC:30888. TBC1D31.
HPAiHPA023710.
neXtProtiNX_Q96DN5.
OpenTargetsiENSG00000156787.
PharmGKBiPA142670600.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0295. Eukaryota.
KOG1093. Eukaryota.
ENOG410Y4WQ. LUCA.
GeneTreeiENSGT00390000009741.
HOGENOMiHOG000007851.
HOVERGENiHBG056488.
InParanoidiQ96DN5.
OMAiYHLMETT.
OrthoDBiEOG091G04BV.
PhylomeDBiQ96DN5.
TreeFamiTF324799.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156787-MONOMER.
SignaLinkiQ96DN5.

Miscellaneous databases

ChiTaRSiTBC1D31. human.
GenomeRNAii93594.
PROiQ96DN5.

Gene expression databases

BgeeiENSG00000156787.
CleanExiHS_WDR67.
ExpressionAtlasiQ96DN5. baseline and differential.
GenevisibleiQ96DN5. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 1 hit.
SSF50978. SSF50978. 1 hit.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
PS00678. WD_REPEATS_1. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBC31_HUMAN
AccessioniPrimary (citable) accession number: Q96DN5
Secondary accession number(s): B7ZL19
, Q2M2J9, Q3MIR6, Q8TBP9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 125 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.