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Q9Y2I9 (TBC30_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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 30
Gene names
Name:TBC1D30
Synonyms:KIAA0984
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length924 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Cell membrane; Peripheral membrane protein Ref.1.

Sequence similarities

Contains 1 Rab-GAP TBC domain.

Sequence caution

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

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentplasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   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: Q9Y2I9-1)

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: Q9Y2I9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-215: MDVLPTGGGR...CLQAVSQKRR → MRQDKLTGSL...PRLLCTLEPG
Isoform 3 (identifier: Q9Y2I9-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 924924TBC1 domain family member 30
PRO_0000320652

Regions

Domain249 – 457209Rab-GAP TBC

Natural variations

Alternative sequence1 – 215215MDVLP…SQKRR → MRQDKLTGSLRRGGRCLKRQ GGGVGTILSNVLKKRSCISR TAPRLLCTLEPG in isoform 2 and isoform 3.
VSP_042427
Alternative sequence792 – 924133TRRTI…GTKKR → SSYKSLQMI in isoform 3.
VSP_042428
Natural variant2961Q → H.
Corresponds to variant rs11615287 [ dbSNP | Ensembl ].
VAR_039261
Natural variant5961N → D.
Corresponds to variant rs2290527 [ dbSNP | Ensembl ].
VAR_052544
Natural variant7521V → I. Ref.1
Corresponds to variant rs939875 [ dbSNP | Ensembl ].
VAR_039262
Natural variant7591N → D.
Corresponds to variant rs2290527 [ dbSNP | Ensembl ].
VAR_059857

Experimental info

Mutagenesis3031R → K: Loss of GAP activity. Ref.1
Sequence conflict7701A → S in BAG51513. Ref.2

Sequences

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

Last modified February 26, 2008. Version 2.
Checksum: 36C626CD533F58A7

FASTA924102,743
        10         20         30         40         50         60 
MDVLPTGGGR PGLRTELEFR GGGGEARLES QEEETIPAAP PAPRLRGAAE RPRRSRDTWD 

        70         80         90        100        110        120 
GDEDTEPGEA CGGRTSRTAS LVSGLLNELY SCTEEEEAAG GGRGAEGRRR RRDSLDSSTE 

       130        140        150        160        170        180 
ASGSDVVLGG RSGAGDSRVL QELQERPSQR HQMLYLRQKD ANELKTILRE LKYRIGIQSA 

       190        200        210        220        230        240 
KLLRHLKQKD RLLHKVQRNC DIVTACLQAV SQKRRVDTKL KFTLEPSLGQ NGFQQWYDAL 

       250        260        270        280        290        300 
KAVARLSTGI PKEWRRKVWL TLADHYLHSI AIDWDKTMRF TFNERSNPDD DSMGIQIVKD 

       310        320        330        340        350        360 
LHRTGCSSYC GQEAEQDRVV LKRVLLAYAR WNKTVGYCQG FNILAALILE VMEGNEGDAL 

       370        380        390        400        410        420 
KIMIYLIDKV LPESYFVNNL RALSVDMAVF RDLLRMKLPE LSQHLDTLQR TANKESGGGY 

       430        440        450        460        470        480 
EPPLTNVFTM QWFLTLFATC LPNQTVLKIW DSVFFEGSEI ILRVSLAIWA KLGEQIECCE 

       490        500        510        520        530        540 
TADEFYSTMG RLTQEMLEND LLQSHELMQT VYSMAPFPFP QLAELREKYT YNITPFPATV 

       550        560        570        580        590        600 
KPTSVSGRHS KARDSDEEND PDDEDAVVNA VGCLGPFSGF LAPELQKYQK QIKEPNEEQS 

       610        620        630        640        650        660 
LRSNNIAELS PGAINSCRSE YHAAFNSMMM ERMTTDINAL KRQYSRIKKK QQQQVHQVYI 

       670        680        690        700        710        720 
RADKGPVTSI LPSQVNSSPV INHLLLGKKM KMTNRAAKNA VIHIPGHTGG KISPVPYEDL 

       730        740        750        760        770        780 
KTKLNSPWRT HIRVHKKNMP RTKSHPGCGD TVGLIDEQNE ASKTNGLGAA EAFPSGCTAT 

       790        800        810        820        830        840 
AGREGSSPEG STRRTIEGQS PEPVFGDADV DVSAVQAKLG ALELNQRDAA AETELRVHPP 

       850        860        870        880        890        900 
CQRHCPEPPS APEENKATSK APQGSNSKTP IFSPFPSVKP LRKSATARNL GLYGPTERTP 

       910        920 
TVHFPQMSRS FSKPGGGNSG TKKR 

« Hide

Isoform 2 [UniParc].

Checksum: 6663AC4CA89BB110
Show »

FASTA76184,683
Isoform 3 [UniParc].

Checksum: FE8ABEF2D3FD36F8
Show »

FASTA63771,466

References

« Hide 'large scale' references
[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. 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 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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS53813.1. [Q9Y2I9-2]
RefSeqNP_056094.1. NM_015279.1. [Q9Y2I9-2]
XP_006719364.1. XM_006719301.1. [Q9Y2I9-1]
UniGeneHs.192492.

3D structure databases

ProteinModelPortalQ9Y2I9.
SMRQ9Y2I9. Positions 190-507.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000229088.

PTM databases

PhosphoSiteQ9Y2I9.

Polymorphism databases

DMDM172046608.

Proteomic databases

MaxQBQ9Y2I9.
PaxDbQ9Y2I9.
PRIDEQ9Y2I9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000229088; ENSP00000229088; ENSG00000111490. [Q9Y2I9-1]
ENST00000539867; ENSP00000440207; ENSG00000111490. [Q9Y2I9-2]
GeneID23329.
KEGGhsa:23329.
UCSCuc001ssh.2. human. [Q9Y2I9-1]
uc001ssi.2. human. [Q9Y2I9-3]
uc010sst.2. human. [Q9Y2I9-2]

Organism-specific databases

CTD23329.
GeneCardsGC12P065174.
H-InvDBHIX0010786.
HGNCHGNC:29164. TBC1D30.
HPAHPA039772.
HPA040043.
MIM615077. gene.
neXtProtNX_Q9Y2I9.
PharmGKBPA162405327.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5210.
HOGENOMHOG000090212.
HOVERGENHBG108548.
InParanoidQ9Y2I9.
OMAEQNEGCK.
PhylomeDBQ9Y2I9.
TreeFamTF321898.

Gene expression databases

ArrayExpressQ9Y2I9.
BgeeQ9Y2I9.
CleanExHS_TBC1D30.
GenevestigatorQ9Y2I9.

Family and domain databases

InterProIPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamPF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTSM00164. TBC. 1 hit.
[Graphical view]
SUPFAMSSF47923. SSF47923. 2 hits.
PROSITEPS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi23329.
NextBio45248.
PROQ9Y2I9.
SOURCESearch...

Entry information

Entry nameTBC30_HUMAN
AccessionPrimary (citable) accession number: Q9Y2I9
Secondary accession number(s): B3KP01 expand/collapse secondary AC list , B9A6M9, E7EMW4, F5GYJ9
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: July 9, 2014
This is version 88 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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 12

Human chromosome 12: entries, gene names and cross-references to MIM