TBC31_HUMAN
ID TBC31_HUMAN Reviewed; 1066 AA.
AC Q96DN5; B7ZL19; Q2M2J9; Q3MIR6; Q8TBP9;
DT 22-NOV-2005, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=TBC1 domain family member 31;
DE AltName: Full=WD repeat-containing protein 67;
GN Name=TBC1D31; Synonyms=WDR67;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 547-1066 (ISOFORM 2).
RC TISSUE=Lung, and Urinary bladder;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY.
RC TISSUE=Lymphoblast;
RX PubMed=14654843; DOI=10.1038/nature02166;
RA Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.;
RT "Proteomic characterization of the human centrosome by protein correlation
RT profiling.";
RL Nature 426:570-574(2003).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96DN5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96DN5-2; Sequence=VSP_016184;
CC Name=3;
CC IsoId=Q96DN5-3; Sequence=VSP_043414, VSP_016184;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH27237.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK056434; BAB71182.1; -; mRNA.
DR EMBL; AC100873; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104316; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC027237; AAH27237.1; ALT_INIT; mRNA.
DR EMBL; BC101724; AAI01725.1; -; mRNA.
DR EMBL; BC111954; AAI11955.1; -; mRNA.
DR EMBL; BC143525; AAI43526.1; -; mRNA.
DR CCDS; CCDS47916.1; -. [Q96DN5-3]
DR CCDS; CCDS6338.1; -. [Q96DN5-1]
DR RefSeq; NP_001138560.1; NM_001145088.1. [Q96DN5-3]
DR RefSeq; NP_663622.2; NM_145647.3. [Q96DN5-1]
DR RefSeq; XP_005251160.1; XM_005251103.1.
DR AlphaFoldDB; Q96DN5; -.
DR SMR; Q96DN5; -.
DR BioGRID; 125037; 61.
DR IntAct; Q96DN5; 27.
DR MINT; Q96DN5; -.
DR STRING; 9606.ENSP00000287380; -.
DR CarbonylDB; Q96DN5; -.
DR iPTMnet; Q96DN5; -.
DR PhosphoSitePlus; Q96DN5; -.
DR BioMuta; TBC1D31; -.
DR DMDM; 116242845; -.
DR EPD; Q96DN5; -.
DR jPOST; Q96DN5; -.
DR MassIVE; Q96DN5; -.
DR MaxQB; Q96DN5; -.
DR PaxDb; Q96DN5; -.
DR PeptideAtlas; Q96DN5; -.
DR PRIDE; Q96DN5; -.
DR ProteomicsDB; 76299; -. [Q96DN5-1]
DR ProteomicsDB; 76300; -. [Q96DN5-2]
DR ProteomicsDB; 76301; -. [Q96DN5-3]
DR Antibodypedia; 13779; 40 antibodies from 11 providers.
DR DNASU; 93594; -.
DR Ensembl; ENST00000287380.6; ENSP00000287380.1; ENSG00000156787.17. [Q96DN5-1]
DR Ensembl; ENST00000327098.9; ENSP00000312701.5; ENSG00000156787.17. [Q96DN5-3]
DR GeneID; 93594; -.
DR KEGG; hsa:93594; -.
DR MANE-Select; ENST00000287380.6; ENSP00000287380.1; NM_145647.4; NP_663622.2.
DR UCSC; uc003ypp.3; human. [Q96DN5-1]
DR CTD; 93594; -.
DR DisGeNET; 93594; -.
DR GeneCards; TBC1D31; -.
DR HGNC; HGNC:30888; TBC1D31.
DR HPA; ENSG00000156787; Tissue enhanced (brain).
DR neXtProt; NX_Q96DN5; -.
DR OpenTargets; ENSG00000156787; -.
DR PharmGKB; PA142670600; -.
DR VEuPathDB; HostDB:ENSG00000156787; -.
DR eggNOG; KOG0295; Eukaryota.
DR eggNOG; KOG1093; Eukaryota.
DR GeneTree; ENSGT00940000153859; -.
DR HOGENOM; CLU_003330_0_0_1; -.
DR InParanoid; Q96DN5; -.
DR OMA; WFEYHPL; -.
DR OrthoDB; 858041at2759; -.
DR PhylomeDB; Q96DN5; -.
DR TreeFam; TF324799; -.
DR PathwayCommons; Q96DN5; -.
DR SignaLink; Q96DN5; -.
DR BioGRID-ORCS; 93594; 36 hits in 1068 CRISPR screens.
DR ChiTaRS; TBC1D31; human.
DR GenomeRNAi; 93594; -.
DR Pharos; Q96DN5; Tdark.
DR PRO; PR:Q96DN5; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q96DN5; protein.
DR Bgee; ENSG00000156787; Expressed in secondary oocyte and 143 other tissues.
DR ExpressionAtlas; Q96DN5; baseline and differential.
DR Genevisible; Q96DN5; HS.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR000195; Rab-GTPase-TBC_dom.
DR InterPro; IPR035969; Rab-GTPase_TBC_sf.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00566; RabGAP-TBC; 1.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF47923; SSF47923; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS50086; TBC_RABGAP; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..1066
FT /note="TBC1 domain family member 31"
FT /id="PRO_0000051420"
FT REPEAT 33..74
FT /note="WD 1"
FT REPEAT 75..116
FT /note="WD 2"
FT REPEAT 117..157
FT /note="WD 3"
FT REPEAT 158..200
FT /note="WD 4"
FT REPEAT 201..248
FT /note="WD 5"
FT REPEAT 249..296
FT /note="WD 6"
FT REPEAT 297..334
FT /note="WD 7"
FT DOMAIN 424..599
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT REGION 989..1020
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 728..861
FT /evidence="ECO:0000255"
FT COILED 914..948
FT /evidence="ECO:0000255"
FT COMPBIAS 999..1020
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 802..832
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_043414"
FT VAR_SEQ 880..944
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_016184"
FT VARIANT 414
FT /note="R -> H (in dbSNP:rs16897967)"
FT /id="VAR_027960"
FT VARIANT 709
FT /note="V -> F (in dbSNP:rs16898023)"
FT /id="VAR_027961"
FT VARIANT 1065
FT /note="A -> T (in dbSNP:rs34994118)"
FT /id="VAR_057632"
FT CONFLICT 358
FT /note="K -> N (in Ref. 1; BAB71182)"
FT /evidence="ECO:0000305"
FT CONFLICT 718
FT /note="Q -> S (in Ref. 3; AAH27237)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1066 AA; 124189 MW; E94983F65D9E5A38 CRC64;
MQSTDLGNKE SGKIWHRKPS PATRDGIIVN IIHNTSDYHP KVLRFLNVAF DGTGDCLIAG
DHQGNIYVFD LHGNRFNLVQ RTAQACTALA FNLRRKSEFL VALADYSIKC FDTVTKELVS
WMRGHESSVF SISVHASGKY AITTSSDTAQ LWDLDTFQRK RKLNIRQSVG IQKVFFLPLS
NTILSCFKDN SIFAWECDTL FCKYQLPAPP ESSSILYKVF AVTRDGRILA AGGKSNHLHL
WCLEARQLFR IIQMPTKVRA IRHLEFLPDS FDAGSNQVLG VLSQDGIMRF INMQTCKLLF
EIGSLDEGIS SSAISPHGRY IASIMENGSL NIYSVQALTQ EINKPPPPLV KVIEDLPKNK
LSSSDLKMKV TSGRVQQPAK SRESKMQTRI LKQDLTGDFE SKKNELPDGL NKKRLQILLK
GYGEYPTKYR MFIWRSLLQL PENHTAFSTL IDKGTHVAFL NLQKKYPIKS RKLLRVLQRT
LSALAHWSVI FSDTPYLPLL AFPFVKLFQN NQLICFEVIA TLIINWCQHW FEYFPNPPIN
ILSMIENVLA FHDKELLQHF IDHDITSQLY AWPLLETVFS EVLTREEWLK LFDNIFSNHP
SFLLMTVVAY NICSRTPLLS CNLKDDFEFF FHHRNNLDIN VVIRQVYHLM ETTPTDIHPD
SMLNVFVALT KGQYPVFNQY PKFIVDYQTQ ERERIRNDEL DYLRERQTVE DMQAKVDQQR
VEDEAWYQKQ ELLRKAEETR REMLLQEEEK MIQQRQRLAA VKRELKVKEM HLQDAARRRF
LKLQQDQQEM ELRRLDDEIG RKVYMRDREI AATARDLEMR QLELESQKRL YEKNLTENQE
ALAKEMRADA DAYRRKVDLE EHMFHKLIEA GETQSQKTQK VIKENLAKAE QACLNTDWQI
QSLHKQKCDD LQRNKCYQEV AKLLRENRRK EIEIINAMVE EEAKKWKEAE GKEFRLRSAK
KASALSDASR KWFLKQEINA AVEHAENPCH KEEPRFQNEQ DSSCLPRTSQ LNDSSEMDPS
TQISLNRRAV EWDTTGQNLI KKVRNLRQRL TARARHRCQT PHLLAA
