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Protein

TBC1 domain family member 31

Gene

TBC1D31

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

Functioni

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000156787.16
HGNCiHGNC:30888 TBC1D31
neXtProtiNX_Q96DN5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

EPDiQ96DN5
MaxQBiQ96DN5
PaxDbiQ96DN5
PeptideAtlasiQ96DN5
PRIDEiQ96DN5
ProteomicsDBi76299
76300 [Q96DN5-2]
76301 [Q96DN5-3]

PTM databases

CarbonylDBiQ96DN5
iPTMnetiQ96DN5
PhosphoSitePlusiQ96DN5

Expressioni

Gene expression databases

BgeeiENSG00000156787 Expressed in 167 organ(s), highest expression level in secondary oocyte
CleanExiHS_WDR67
ExpressionAtlasiQ96DN5 baseline and differential
GenevisibleiQ96DN5 HS

Organism-specific databases

HPAiHPA023710

Interactioni

Protein-protein interaction databases

BioGridi125037, 46 interactors
IntActiQ96DN5, 18 interactors
STRINGi9606.ENSP00000287380

Structurei

3D structure databases

ProteinModelPortaliQ96DN5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati33 – 74WD 1Add BLAST42
Repeati75 – 116WD 2Add BLAST42
Repeati117 – 157WD 3Add BLAST41
Repeati158 – 200WD 4Add BLAST43
Repeati201 – 248WD 5Add BLAST48
Repeati249 – 296WD 6Add BLAST48
Repeati297 – 334WD 7Add BLAST38
Domaini424 – 599Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST176

Coiled coil

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

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF47923 SSF47923, 1 hit
SSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit
PS00678 WD_REPEATS_1, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ERK7E7ERK7_HUMAN
TBC1 domain family member 31
TBC1D31
961Annotation score:
E7EWW7E7EWW7_HUMAN
TBC1 domain family member 31
TBC1D31
943Annotation score:
E5RI94E5RI94_HUMAN
TBC1 domain family member 31
TBC1D31
620Annotation score:
E5RI27E5RI27_HUMAN
TBC1 domain family member 31
TBC1D31
44Annotation score:
E5RFG6E5RFG6_HUMAN
TBC1 domain family member 31
TBC1D31
247Annotation score:
E5RG45E5RG45_HUMAN
TBC1 domain family member 31
TBC1D31
68Annotation score:
H0YCY3H0YCY3_HUMAN
TBC1 domain family member 31
TBC1D31
155Annotation score:
E5RHC6E5RHC6_HUMAN
TBC1 domain family member 31
TBC1D31
146Annotation score:
F5GYF1F5GYF1_HUMAN
TBC1 domain family member 31
TBC1D31
80Annotation score:
H0YCP2H0YCP2_HUMAN
TBC1 domain family member 31
TBC1D31
78Annotation score:

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 dbSNP:rs16897967Ensembl.1
Natural variantiVAR_027961709V → F. Corresponds to variant dbSNP:rs16898023Ensembl.1
Natural variantiVAR_0576321065A → T. Corresponds to variant dbSNP:rs34994118Ensembl.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
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

Similar proteinsi

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
UniGeneiHs.492716

3D structure databases

ProteinModelPortaliQ96DN5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125037, 46 interactors
IntActiQ96DN5, 18 interactors
STRINGi9606.ENSP00000287380

PTM databases

CarbonylDBiQ96DN5
iPTMnetiQ96DN5
PhosphoSitePlusiQ96DN5

Polymorphism and mutation databases

BioMutaiTBC1D31
DMDMi116242845

Proteomic databases

EPDiQ96DN5
MaxQBiQ96DN5
PaxDbiQ96DN5
PeptideAtlasiQ96DN5
PRIDEiQ96DN5
ProteomicsDBi76299
76300 [Q96DN5-2]
76301 [Q96DN5-3]

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
EuPathDBiHostDB:ENSG00000156787.16
GeneCardsiTBC1D31
HGNCiHGNC:30888 TBC1D31
HPAiHPA023710
neXtProtiNX_Q96DN5
OpenTargetsiENSG00000156787
PharmGKBiPA142670600
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

SignaLinkiQ96DN5

Miscellaneous databases

ChiTaRSiTBC1D31 human
GenomeRNAii93594
PROiPR:Q96DN5

Gene expression databases

BgeeiENSG00000156787 Expressed in 167 organ(s), highest expression level in secondary oocyte
CleanExiHS_WDR67
ExpressionAtlasiQ96DN5 baseline and differential
GenevisibleiQ96DN5 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF47923 SSF47923, 1 hit
SSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit
PS00678 WD_REPEATS_1, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBC31_HUMAN
AccessioniPrimary (citable) accession number: Q96DN5
Secondary accession number(s): B7ZL19
, Q2M2J9, Q3MIR6, Q8TBP9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 139 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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