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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 transcript 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

HGNCiHGNC:30888. TBC1D31.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670600.

Polymorphism and mutation databases

BioMutaiTBC1D31.
DMDMi116242845.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10661066TBC1 domain family member 31PRO_0000051420Add
BLAST

Proteomic databases

MaxQBiQ96DN5.
PaxDbiQ96DN5.
PRIDEiQ96DN5.

PTM databases

iPTMnetiQ96DN5.
PhosphoSiteiQ96DN5.

Expressioni

Gene expression databases

BgeeiQ96DN5.
CleanExiHS_WDR67.
ExpressionAtlasiQ96DN5. baseline and differential.
GenevisibleiQ96DN5. HS.

Organism-specific databases

HPAiHPA023710.

Interactioni

Protein-protein interaction databases

BioGridi125037. 37 interactions.
IntActiQ96DN5. 18 interactions.
STRINGi9606.ENSP00000287380.

Structurei

3D structure databases

ProteinModelPortaliQ96DN5.
SMRiQ96DN5. Positions 48-334.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati38 – 7942WD 1Add
BLAST
Repeati124 – 16239WD 2Add
BLAST
Repeati166 – 20540WD 3Add
BLAST
Repeati211 – 25343WD 4Add
BLAST
Repeati304 – 34340WD 5Add
BLAST
Domaini424 – 599176Rab-GAP TBCPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili728 – 861134Sequence analysisAdd
BLAST
Coiled coili914 – 94835Sequence analysisAdd
BLAST

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.
OrthoDBiEOG7RRF6H.
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 AAH27237.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti358 – 3581K → N in BAB71182 (PubMed:14702039).Curated
Sequence conflicti718 – 7181Q → S in AAH27237 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti414 – 4141R → H.
Corresponds to variant rs16897967 [ dbSNP | Ensembl ].
VAR_027960
Natural varianti709 – 7091V → F.
Corresponds to variant rs16898023 [ dbSNP | Ensembl ].
VAR_027961
Natural varianti1065 – 10651A → T.
Corresponds to variant rs34994118 [ dbSNP | Ensembl ].
VAR_057632

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei802 – 83231Missing in isoform 3. 1 PublicationVSP_043414Add
BLAST
Alternative sequencei880 – 94465Missing in isoform 2 and isoform 3. 1 PublicationVSP_016184Add
BLAST

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. Positions 48-334.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125037. 37 interactions.
IntActiQ96DN5. 18 interactions.
STRINGi9606.ENSP00000287380.

PTM databases

iPTMnetiQ96DN5.
PhosphoSiteiQ96DN5.

Polymorphism and mutation databases

BioMutaiTBC1D31.
DMDMi116242845.

Proteomic databases

MaxQBiQ96DN5.
PaxDbiQ96DN5.
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.
GeneCardsiTBC1D31.
HGNCiHGNC:30888. TBC1D31.
HPAiHPA023710.
neXtProtiNX_Q96DN5.
PharmGKBiPA142670600.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0295. Eukaryota.
KOG1093. Eukaryota.
ENOG410Y4WQ. LUCA.
GeneTreeiENSGT00390000009741.
HOGENOMiHOG000007851.
HOVERGENiHBG056488.
InParanoidiQ96DN5.
OMAiYHLMETT.
OrthoDBiEOG7RRF6H.
PhylomeDBiQ96DN5.
TreeFamiTF324799.

Enzyme and pathway databases

SignaLinkiQ96DN5.

Miscellaneous databases

ChiTaRSiTBC1D31. human.
GenomeRNAii93594.
PROiQ96DN5.

Gene expression databases

BgeeiQ96DN5.
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...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Teratocarcinoma.
  2. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 547-1066 (ISOFORM 2).
    Tissue: Lung and Urinary bladder.

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: June 8, 2016
This is version 121 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.