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Q96DN5 (TBC31_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
TBC1 domain family member 31
Alternative name(s):
WD repeat-containing protein 67
Gene names
Name:TBC1D31
Synonyms:WDR67
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1066 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 Rab-GAP TBC domain.

Contains 5 WD repeats.

Sequence caution

The sequence AAH27237.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Repeat
WD repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcentrosome

Inferred from direct assay PubMed 21399614. Source: UniProtKB

   Molecular_functionRab GTPase activator activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96DN5-1)

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.
Isoform 2 (identifier: Q96DN5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     880-944: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96DN5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     802-832: Missing.
     880-944: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10661066TBC1 domain family member 31
PRO_0000051420

Regions

Repeat38 – 7942WD 1
Repeat124 – 16239WD 2
Repeat166 – 20540WD 3
Repeat211 – 25343WD 4
Repeat304 – 34340WD 5
Domain424 – 599176Rab-GAP TBC
Coiled coil728 – 861134 Potential
Coiled coil914 – 94835 Potential

Natural variations

Alternative sequence802 – 83231Missing in isoform 3.
VSP_043414
Alternative sequence880 – 94465Missing in isoform 2 and isoform 3.
VSP_016184
Natural variant4141R → H.
Corresponds to variant rs16897967 [ dbSNP | Ensembl ].
VAR_027960
Natural variant7091V → F.
Corresponds to variant rs16898023 [ dbSNP | Ensembl ].
VAR_027961
Natural variant10651A → T.
Corresponds to variant rs34994118 [ dbSNP | Ensembl ].
VAR_057632

Experimental info

Sequence conflict3581K → N in BAB71182. Ref.1
Sequence conflict7181Q → S in AAH27237. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: E94983F65D9E5A38

FASTA1,066124,189
        10         20         30         40         50         60 
MQSTDLGNKE SGKIWHRKPS PATRDGIIVN IIHNTSDYHP KVLRFLNVAF DGTGDCLIAG 

        70         80         90        100        110        120 
DHQGNIYVFD LHGNRFNLVQ RTAQACTALA FNLRRKSEFL VALADYSIKC FDTVTKELVS 

       130        140        150        160        170        180 
WMRGHESSVF SISVHASGKY AITTSSDTAQ LWDLDTFQRK RKLNIRQSVG IQKVFFLPLS 

       190        200        210        220        230        240 
NTILSCFKDN SIFAWECDTL FCKYQLPAPP ESSSILYKVF AVTRDGRILA AGGKSNHLHL 

       250        260        270        280        290        300 
WCLEARQLFR IIQMPTKVRA IRHLEFLPDS FDAGSNQVLG VLSQDGIMRF INMQTCKLLF 

       310        320        330        340        350        360 
EIGSLDEGIS SSAISPHGRY IASIMENGSL NIYSVQALTQ EINKPPPPLV KVIEDLPKNK 

       370        380        390        400        410        420 
LSSSDLKMKV TSGRVQQPAK SRESKMQTRI LKQDLTGDFE SKKNELPDGL NKKRLQILLK 

       430        440        450        460        470        480 
GYGEYPTKYR MFIWRSLLQL PENHTAFSTL IDKGTHVAFL NLQKKYPIKS RKLLRVLQRT 

       490        500        510        520        530        540 
LSALAHWSVI FSDTPYLPLL AFPFVKLFQN NQLICFEVIA TLIINWCQHW FEYFPNPPIN 

       550        560        570        580        590        600 
ILSMIENVLA FHDKELLQHF IDHDITSQLY AWPLLETVFS EVLTREEWLK LFDNIFSNHP 

       610        620        630        640        650        660 
SFLLMTVVAY NICSRTPLLS CNLKDDFEFF FHHRNNLDIN VVIRQVYHLM ETTPTDIHPD 

       670        680        690        700        710        720 
SMLNVFVALT KGQYPVFNQY PKFIVDYQTQ ERERIRNDEL DYLRERQTVE DMQAKVDQQR 

       730        740        750        760        770        780 
VEDEAWYQKQ ELLRKAEETR REMLLQEEEK MIQQRQRLAA VKRELKVKEM HLQDAARRRF 

       790        800        810        820        830        840 
LKLQQDQQEM ELRRLDDEIG RKVYMRDREI AATARDLEMR QLELESQKRL YEKNLTENQE 

       850        860        870        880        890        900 
ALAKEMRADA DAYRRKVDLE EHMFHKLIEA GETQSQKTQK VIKENLAKAE QACLNTDWQI 

       910        920        930        940        950        960 
QSLHKQKCDD LQRNKCYQEV AKLLRENRRK EIEIINAMVE EEAKKWKEAE GKEFRLRSAK 

       970        980        990       1000       1010       1020 
KASALSDASR KWFLKQEINA AVEHAENPCH KEEPRFQNEQ DSSCLPRTSQ LNDSSEMDPS 

      1030       1040       1050       1060 
TQISLNRRAV EWDTTGQNLI KKVRNLRQRL TARARHRCQT PHLLAA 

« Hide

Isoform 2 [UniParc].

Checksum: 511757E564C103AB
Show »

FASTA1,001116,481
Isoform 3 [UniParc].

Checksum: 9323DDFBB78E1BEB
Show »

FASTA970112,656

References

[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001138560.1. NM_001145088.1.
NP_663622.2. NM_145647.3.
XP_005251160.1. XM_005251103.1.
UniGeneHs.492716.

3D structure databases

ProteinModelPortalQ96DN5.
SMRQ96DN5. Positions 48-334.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125037. 1 interaction.
STRING9606.ENSP00000287380.

PTM databases

PhosphoSiteQ96DN5.

Polymorphism databases

DMDM116242845.

Proteomic databases

PaxDbQ96DN5.
PRIDEQ96DN5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000287380; ENSP00000287380; ENSG00000156787. [Q96DN5-1]
ENST00000309336; ENSP00000308358; ENSG00000156787. [Q96DN5-2]
ENST00000327098; ENSP00000312701; ENSG00000156787. [Q96DN5-3]
GeneID93594.
KEGGhsa:93594.
UCSCuc003ypp.2. human. [Q96DN5-1]
uc011lig.2. human. [Q96DN5-3]

Organism-specific databases

CTD93594.
GeneCardsGC08P124055.
HGNCHGNC:30888. TBC1D31.
HPAHPA023710.
neXtProtNX_Q96DN5.
PharmGKBPA142670600.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000007851.
HOVERGENHBG056488.
InParanoidQ96DN5.
OMAQEINKPP.
OrthoDBEOG7RRF6H.
PhylomeDBQ96DN5.
TreeFamTF324799.

Enzyme and pathway databases

SignaLinkQ96DN5.

Gene expression databases

ArrayExpressQ96DN5.
BgeeQ96DN5.
CleanExHS_WDR67.
GenevestigatorQ96DN5.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR000195. Rab-GTPase-TBC_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00566. RabGAP-TBC. 1 hit.
PF00400. WD40. 1 hit.
[Graphical view]
SMARTSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMSSF47923. SSF47923. 1 hit.
SSF50978. SSF50978. 1 hit.
PROSITEPS50086. TBC_RABGAP. 1 hit.
PS00678. WD_REPEATS_1. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi93594.
NextBio78143.
PROQ96DN5.

Entry information

Entry nameTBC31_HUMAN
AccessionPrimary (citable) accession number: Q96DN5
Secondary accession number(s): B7ZL19 expand/collapse secondary AC list , Q2M2J9, Q3MIR6, Q8TBP9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM