Q9Y2I9 (TBC30_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
TBC1 domain family member 30

Gene names

Name:	TBC1D30
Synonyms:	KIAA0984

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	924 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of Rab GTPase activity Inferred from electronic annotation. Source: GOC
Cellular_component	intracellular Inferred from electronic annotation. Source: InterPro plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	Rab 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 924	924	TBC1 domain family member 30		PRO_0000320652
Regions
	Domain	249 – 457	209	Rab-GAP TBC
Natural variations
	Alternative sequence	1 – 215	215	MDVLP…SQKRR → MRQDKLTGSLRRGGRCLKRQ GGGVGTILSNVLKKRSCISR TAPRLLCTLEPG in isoform 2 and isoform 3.		VSP_042427
	Alternative sequence	792 – 924	133	TRRTI…GTKKR → SSYKSLQMI in isoform 3.		VSP_042428
	Natural variant	296	1	Q → H. Corresponds to variant rs11615287 [ dbSNP | Ensembl ].		VAR_039261
	Natural variant	596	1	N → D. Corresponds to variant rs2290527 [ dbSNP | Ensembl ].		VAR_052544
	Natural variant	752	1	V → I. Ref.1 Corresponds to variant rs939875 [ dbSNP | Ensembl ].		VAR_039262
	Natural variant	759	1	N → D. Corresponds to variant rs2290527 [ dbSNP | Ensembl ].		VAR_059857
Experimental info
	Mutagenesis	303	1	R → K: Loss of GAP activity. Ref.1
	Sequence conflict	770	1	A → S in BAG51513. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 26, 2008. Version 2. Checksum: 36C626CD533F58A7	FASTA	924	102,743
	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
	Isoform 2 [UniParc]. Checksum: 6663AC4CA89BB110	FASTA	761	84,683
	10 20 30 40 50 60 MRQDKLTGSL RRGGRCLKRQ GGGVGTILSN VLKKRSCISR TAPRLLCTLE PGVDTKLKFT 70 80 90 100 110 120 LEPSLGQNGF QQWYDALKAV ARLSTGIPKE WRRKVWLTLA DHYLHSIAID WDKTMRFTFN 130 140 150 160 170 180 ERSNPDDDSM GIQIVKDLHR TGCSSYCGQE AEQDRVVLKR VLLAYARWNK TVGYCQGFNI 190 200 210 220 230 240 LAALILEVME GNEGDALKIM IYLIDKVLPE SYFVNNLRAL SVDMAVFRDL LRMKLPELSQ 250 260 270 280 290 300 HLDTLQRTAN KESGGGYEPP LTNVFTMQWF LTLFATCLPN QTVLKIWDSV FFEGSEIILR 310 320 330 340 350 360 VSLAIWAKLG EQIECCETAD EFYSTMGRLT QEMLENDLLQ SHELMQTVYS MAPFPFPQLA 370 380 390 400 410 420 ELREKYTYNI TPFPATVKPT SVSGRHSKAR DSDEENDPDD EDAVVNAVGC LGPFSGFLAP 430 440 450 460 470 480 ELQKYQKQIK EPNEEQSLRS NNIAELSPGA INSCRSEYHA AFNSMMMERM TTDINALKRQ 490 500 510 520 530 540 YSRIKKKQQQ QVHQVYIRAD KGPVTSILPS QVNSSPVINH LLLGKKMKMT NRAAKNAVIH 550 560 570 580 590 600 IPGHTGGKIS PVPYEDLKTK LNSPWRTHIR VHKKNMPRTK SHPGCGDTVG LIDEQNEASK 610 620 630 640 650 660 TNGLGAAEAF PSGCTATAGR EGSSPEGSTR RTIEGQSPEP VFGDADVDVS AVQAKLGALE 670 680 690 700 710 720 LNQRDAAAET ELRVHPPCQR HCPEPPSAPE ENKATSKAPQ GSNSKTPIFS PFPSVKPLRK 730 740 750 760 SATARNLGLY GPTERTPTVH FPQMSRSFSK PGGGNSGTKK R
	Isoform 3 [UniParc]. Checksum: FE8ABEF2D3FD36F8	FASTA	637	71,466
	10 20 30 40 50 60 MRQDKLTGSL RRGGRCLKRQ GGGVGTILSN VLKKRSCISR TAPRLLCTLE PGVDTKLKFT 70 80 90 100 110 120 LEPSLGQNGF QQWYDALKAV ARLSTGIPKE WRRKVWLTLA DHYLHSIAID WDKTMRFTFN 130 140 150 160 170 180 ERSNPDDDSM GIQIVKDLHR TGCSSYCGQE AEQDRVVLKR VLLAYARWNK TVGYCQGFNI 190 200 210 220 230 240 LAALILEVME GNEGDALKIM IYLIDKVLPE SYFVNNLRAL SVDMAVFRDL LRMKLPELSQ 250 260 270 280 290 300 HLDTLQRTAN KESGGGYEPP LTNVFTMQWF LTLFATCLPN QTVLKIWDSV FFEGSEIILR 310 320 330 340 350 360 VSLAIWAKLG EQIECCETAD EFYSTMGRLT QEMLENDLLQ SHELMQTVYS MAPFPFPQLA 370 380 390 400 410 420 ELREKYTYNI TPFPATVKPT SVSGRHSKAR DSDEENDPDD EDAVVNAVGC LGPFSGFLAP 430 440 450 460 470 480 ELQKYQKQIK EPNEEQSLRS NNIAELSPGA INSCRSEYHA AFNSMMMERM TTDINALKRQ 490 500 510 520 530 540 YSRIKKKQQQ QVHQVYIRAD KGPVTSILPS QVNSSPVINH LLLGKKMKMT NRAAKNAVIH 550 560 570 580 590 600 IPGHTGGKIS PVPYEDLKTK LNSPWRTHIR VHKKNMPRTK SHPGCGDTVG LIDEQNEASK 610 620 630 TNGLGAAEAF PSGCTATAGR EGSSPEGSSS YKSLQMI

References

	« Hide 'large scale' referencesShow '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. , 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.

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.
IPI	IPI00180403.
RefSeq	NP_056094.1. NM_015279.1.
UniGene	Hs.192492.
3D structure databases
ProteinModelPortal	Q9Y2I9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000229088.
PTM databases
PhosphoSite	Q9Y2I9.
Polymorphism databases
DMDM	172046608.
Proteomic databases
PaxDb	Q9Y2I9.
PRIDE	Q9Y2I9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000229088; ENSP00000229088; ENSG00000111490. ENST00000539867; ENSP00000440207; ENSG00000111490.
GeneID	23329.
KEGG	hsa:23329.
UCSC	uc001ssh.2. human.
Organism-specific databases
CTD	23329.
GeneCards	GC12P065174.
H-InvDB	HIX0010786.
HGNC	HGNC:29164. TBC1D30.
HPA	HPA039772. HPA040043.
MIM	615077. gene.
neXtProt	NX_Q9Y2I9.
PharmGKB	PA162405327.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5210.
HOGENOM	HOG000090212.
HOVERGEN	HBG108548.
InParanoid	Q9Y2I9.
OMA	EQNEGCK.
OrthoDB	EOG437RD6.
Gene expression databases
ArrayExpress	Q9Y2I9.
Bgee	Q9Y2I9.
CleanEx	HS_TBC1D30.
Genevestigator	Q9Y2I9.
Family and domain databases
InterPro	IPR000195. Rab-GTPase-TBC_dom. [Graphical view]
Pfam	PF00566. RabGAP-TBC. 1 hit. [Graphical view]
SMART	SM00164. TBC. 1 hit. [Graphical view]
SUPFAM	SSF47923. RabGAP_TBC. 2 hits.
PROSITE	PS50086. TBC_RABGAP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	23329.
NextBio	45248.
SOURCE	Search...

Entry information

Entry name

TBC30_HUMAN

Accession

Primary (citable) accession number: Q9Y2I9
Secondary accession number(s): B3KP01 , B9A6M9, E7EMW4, F5GYJ9

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 26, 2008
Last sequence update:	February 26, 2008
Last modified:	May 1, 2013
This is version 77 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.