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Q9Y2I9

- TBC30_HUMAN

UniProt

Q9Y2I9 - TBC30_HUMAN

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Protein

TBC1 domain family member 30

Gene

TBC1D30

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

Functioni

GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro.

GO - Molecular functioni

  1. Rab GTPase activator activity Source: UniProtKB
  2. Rab GTPase binding Source: UniProtKB

GO - Biological processi

  1. negative regulation of cilium assembly Source: UniProtKB
  2. positive regulation of GTP catabolic process Source: UniProtKB
  3. positive regulation of Rab GTPase activity Source: GOC
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 30
Gene namesi
Name:TBC1D30
Synonyms:KIAA0984
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:29164. TBC1D30.

Subcellular locationi

Cell membrane 1 Publication; Peripheral membrane protein 1 Publication

GO - Cellular componenti

  1. ciliary basal body Source: UniProtKB
  2. plasma membrane Source: UniProtKB-KW
  3. primary cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi303 – 3031R → K: Loss of GAP activity. 1 Publication

Organism-specific databases

PharmGKBiPA162405327.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 924924TBC1 domain family member 30PRO_0000320652Add
BLAST

Proteomic databases

MaxQBiQ9Y2I9.
PaxDbiQ9Y2I9.
PRIDEiQ9Y2I9.

PTM databases

PhosphoSiteiQ9Y2I9.

Expressioni

Gene expression databases

BgeeiQ9Y2I9.
CleanExiHS_TBC1D30.
ExpressionAtlasiQ9Y2I9. baseline and differential.
GenevestigatoriQ9Y2I9.

Organism-specific databases

HPAiHPA039772.
HPA040043.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000229088.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2I9.
SMRiQ9Y2I9. Positions 190-507.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini249 – 457209Rab-GAP TBCPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG5210.
GeneTreeiENSGT00760000119137.
HOGENOMiHOG000090212.
HOVERGENiHBG108548.
InParanoidiQ9Y2I9.
OMAiEQNEGCK.
PhylomeDBiQ9Y2I9.
TreeFamiTF321898.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y2I9-1) [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
MDVLPTGGGR PGLRTELEFR GGGGEARLES QEEETIPAAP PAPRLRGAAE
60 70 80 90 100
RPRRSRDTWD GDEDTEPGEA CGGRTSRTAS LVSGLLNELY SCTEEEEAAG
110 120 130 140 150
GGRGAEGRRR RRDSLDSSTE ASGSDVVLGG RSGAGDSRVL QELQERPSQR
160 170 180 190 200
HQMLYLRQKD ANELKTILRE LKYRIGIQSA KLLRHLKQKD RLLHKVQRNC
210 220 230 240 250
DIVTACLQAV SQKRRVDTKL KFTLEPSLGQ NGFQQWYDAL KAVARLSTGI
260 270 280 290 300
PKEWRRKVWL TLADHYLHSI AIDWDKTMRF TFNERSNPDD DSMGIQIVKD
310 320 330 340 350
LHRTGCSSYC GQEAEQDRVV LKRVLLAYAR WNKTVGYCQG FNILAALILE
360 370 380 390 400
VMEGNEGDAL KIMIYLIDKV LPESYFVNNL RALSVDMAVF RDLLRMKLPE
410 420 430 440 450
LSQHLDTLQR TANKESGGGY EPPLTNVFTM QWFLTLFATC LPNQTVLKIW
460 470 480 490 500
DSVFFEGSEI ILRVSLAIWA KLGEQIECCE TADEFYSTMG RLTQEMLEND
510 520 530 540 550
LLQSHELMQT VYSMAPFPFP QLAELREKYT YNITPFPATV KPTSVSGRHS
560 570 580 590 600
KARDSDEEND PDDEDAVVNA VGCLGPFSGF LAPELQKYQK QIKEPNEEQS
610 620 630 640 650
LRSNNIAELS PGAINSCRSE YHAAFNSMMM ERMTTDINAL KRQYSRIKKK
660 670 680 690 700
QQQQVHQVYI RADKGPVTSI LPSQVNSSPV INHLLLGKKM KMTNRAAKNA
710 720 730 740 750
VIHIPGHTGG KISPVPYEDL KTKLNSPWRT HIRVHKKNMP RTKSHPGCGD
760 770 780 790 800
TVGLIDEQNE ASKTNGLGAA EAFPSGCTAT AGREGSSPEG STRRTIEGQS
810 820 830 840 850
PEPVFGDADV DVSAVQAKLG ALELNQRDAA AETELRVHPP CQRHCPEPPS
860 870 880 890 900
APEENKATSK APQGSNSKTP IFSPFPSVKP LRKSATARNL GLYGPTERTP
910 920
TVHFPQMSRS FSKPGGGNSG TKKR
Length:924
Mass (Da):102,743
Last modified:February 26, 2008 - v2
Checksum:i36C626CD533F58A7
GO
Isoform 2 (identifier: Q9Y2I9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-215: MDVLPTGGGR...CLQAVSQKRR → MRQDKLTGSL...PRLLCTLEPG

Show »
Length:761
Mass (Da):84,683
Checksum:i6663AC4CA89BB110
GO
Isoform 3 (identifier: Q9Y2I9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-215: MDVLPTGGGR...CLQAVSQKRR → MRQDKLTGSL...PRLLCTLEPG
     792-924: TRRTIEGQSP...GGGNSGTKKR → SSYKSLQMI

Show »
Length:637
Mass (Da):71,466
Checksum:iFE8ABEF2D3FD36F8
GO

Sequence cautioni

The sequence BAA76828.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti770 – 7701A → S in BAG51513. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti296 – 2961Q → H.
Corresponds to variant rs11615287 [ dbSNP | Ensembl ].
VAR_039261
Natural varianti596 – 5961N → D.
Corresponds to variant rs2290527 [ dbSNP | Ensembl ].
VAR_052544
Natural varianti752 – 7521V → I.1 Publication
Corresponds to variant rs939875 [ dbSNP | Ensembl ].
VAR_039262
Natural varianti759 – 7591N → D.
Corresponds to variant rs2290527 [ dbSNP | Ensembl ].
VAR_059857

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 215215MDVLP…SQKRR → MRQDKLTGSLRRGGRCLKRQ GGGVGTILSNVLKKRSCISR TAPRLLCTLEPG in isoform 2 and isoform 3. 2 PublicationsVSP_042427Add
BLAST
Alternative sequencei792 – 924133TRRTI…GTKKR → SSYKSLQMI in isoform 3. 1 PublicationVSP_042428Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB449914 mRNA. Translation: BAH16657.1.
AK055404 mRNA. Translation: BAG51513.1.
AC025262 Genomic DNA. No translation available.
AC078815 Genomic DNA. No translation available.
AB023201 mRNA. Translation: BAA76828.1. Different initiation.
CCDSiCCDS53813.1. [Q9Y2I9-2]
RefSeqiNP_056094.1. NM_015279.1. [Q9Y2I9-2]
XP_006719364.1. XM_006719301.1. [Q9Y2I9-1]
UniGeneiHs.192492.

Genome annotation databases

EnsembliENST00000539867; ENSP00000440207; ENSG00000111490. [Q9Y2I9-2]
GeneIDi23329.
KEGGihsa:23329.
UCSCiuc001ssh.2. human. [Q9Y2I9-1]
uc001ssi.2. human. [Q9Y2I9-3]
uc010sst.2. human. [Q9Y2I9-2]

Polymorphism databases

DMDMi172046608.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB449914 mRNA. Translation: BAH16657.1 .
AK055404 mRNA. Translation: BAG51513.1 .
AC025262 Genomic DNA. No translation available.
AC078815 Genomic DNA. No translation available.
AB023201 mRNA. Translation: BAA76828.1 . Different initiation.
CCDSi CCDS53813.1. [Q9Y2I9-2 ]
RefSeqi NP_056094.1. NM_015279.1. [Q9Y2I9-2 ]
XP_006719364.1. XM_006719301.1. [Q9Y2I9-1 ]
UniGenei Hs.192492.

3D structure databases

ProteinModelPortali Q9Y2I9.
SMRi Q9Y2I9. Positions 190-507.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000229088.

PTM databases

PhosphoSitei Q9Y2I9.

Polymorphism databases

DMDMi 172046608.

Proteomic databases

MaxQBi Q9Y2I9.
PaxDbi Q9Y2I9.
PRIDEi Q9Y2I9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000539867 ; ENSP00000440207 ; ENSG00000111490 . [Q9Y2I9-2 ]
GeneIDi 23329.
KEGGi hsa:23329.
UCSCi uc001ssh.2. human. [Q9Y2I9-1 ]
uc001ssi.2. human. [Q9Y2I9-3 ]
uc010sst.2. human. [Q9Y2I9-2 ]

Organism-specific databases

CTDi 23329.
GeneCardsi GC12P065174.
H-InvDB HIX0010786.
HGNCi HGNC:29164. TBC1D30.
HPAi HPA039772.
HPA040043.
MIMi 615077. gene.
neXtProti NX_Q9Y2I9.
PharmGKBi PA162405327.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5210.
GeneTreei ENSGT00760000119137.
HOGENOMi HOG000090212.
HOVERGENi HBG108548.
InParanoidi Q9Y2I9.
OMAi EQNEGCK.
PhylomeDBi Q9Y2I9.
TreeFami TF321898.

Miscellaneous databases

GenomeRNAii 23329.
NextBioi 45248.
PROi Q9Y2I9.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y2I9.
CleanExi HS_TBC1D30.
ExpressionAtlasi Q9Y2I9. baseline and differential.
Genevestigatori Q9Y2I9.

Family and domain databases

InterProi IPR000195. Rab-GTPase-TBC_dom.
[Graphical view ]
Pfami PF00566. RabGAP-TBC. 1 hit.
[Graphical view ]
SMARTi SM00164. TBC. 1 hit.
[Graphical view ]
SUPFAMi SSF47923. SSF47923. 2 hits.
PROSITEi PS50086. TBC_RABGAP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity."
    Ishibashi K., Kanno E., Itoh T., Fukuda M.
    Genes Cells 14:41-52(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT ILE-752, MUTAGENESIS OF ARG-303, SUBCELLULAR LOCATION.
    Tissue: Brain.
  2. "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 3).
    Tissue: Brain.
  3. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 216-924.
    Tissue: Brain.

Entry informationi

Entry nameiTBC30_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2I9
Secondary accession number(s): B3KP01
, B9A6M9, E7EMW4, F5GYJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: October 29, 2014
This is version 90 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 12
    Human chromosome 12: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3