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Protein

TBC1 domain family member 19

Gene

TBC1D19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

May act as a GTPase-activating protein for Rab family protein(s).

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 19
Gene namesi
Name:TBC1D19
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:25624. TBC1D19.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134980991.

Polymorphism and mutation databases

BioMutaiTBC1D19.
DMDMi296452921.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 526526TBC1 domain family member 19PRO_0000208047Add
BLAST

Proteomic databases

EPDiQ8N5T2.
MaxQBiQ8N5T2.
PaxDbiQ8N5T2.
PRIDEiQ8N5T2.

PTM databases

iPTMnetiQ8N5T2.
PhosphoSiteiQ8N5T2.

Expressioni

Gene expression databases

BgeeiQ8N5T2.
CleanExiHS_TBC1D19.
ExpressionAtlasiQ8N5T2. baseline and differential.
GenevisibleiQ8N5T2. HS.

Organism-specific databases

HPAiHPA039592.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MAGEA12Q6FHH83EBI-1221022,EBI-10178394

Protein-protein interaction databases

BioGridi120583. 6 interactions.
IntActiQ8N5T2. 4 interactions.
STRINGi9606.ENSP00000264866.

Structurei

3D structure databases

ProteinModelPortaliQ8N5T2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini251 – 472222Rab-GAP TBCPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiENOG410IEUD. Eukaryota.
ENOG410XRPM. LUCA.
GeneTreeiENSGT00390000015965.
HOGENOMiHOG000007433.
HOVERGENiHBG055798.
InParanoidiQ8N5T2.
OMAiQCQRILE.
PhylomeDBiQ8N5T2.
TreeFamiTF323848.

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 (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N5T2-1) [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
MLQEESDLSL IIAQIVQKLK GSNLYSQLER QAWASLQRPE IKLESLKEDI
60 70 80 90 100
KEFFKISGWE KKLQNAVYSE LSVFPLPSHP AAPPEHLKEP LVYMRKAQGS
110 120 130 140 150
WEKRILKSLN SMCTELSIPL ARKRPVGEQK ELLNKWNEMG TDEPDLSLFR
160 170 180 190 200
PVYAPKDFLE VLINLRNPNY ENGDSLSFRT HLGLIQVPLK VKDIPELKEC
210 220 230 240 250
FVELGLNIGQ LGIDDSTQVP PELFENEHVR IGQKVLAEQD SAAAQQYIRQ
260 270 280 290 300
GSPTALRAEL WALILNISSQ PEDVLYYEQL KTNVIQHDLL VDSLIYKDVK
310 320 330 340 350
LTASNDDYYF VFEDYLYQVL LCFSRDTSVL SHFAFNSASP PKSYIRGKLG
360 370 380 390 400
LEEYAVFYPP NGVIPFHGFS MYVAPLCFLY HEPSKLYQIF REMYVRFFFR
410 420 430 440 450
LHSISSHPSG IVSLCLLFET LLQTYLPQLF YHLREIGAQP LRISFKWMVR
460 470 480 490 500
AFSGYLATDQ LLLLWDRILG YNSLEILAVL AAAVFAFRAV NLMEVTSLAA
510 520
AEAVLADLST LKVMPLLQIF LFATVT
Length:526
Mass (Da):60,208
Last modified:May 18, 2010 - v2
Checksum:i882433FD2E080384
GO
Isoform 2 (identifier: Q8N5T2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     34-98: Missing.

Show »
Length:461
Mass (Da):52,707
Checksum:i822CD424ECB8B06A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti176 – 1761L → P in BAA91992 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti241 – 2411S → G.
Corresponds to variant rs16878555 [ dbSNP | Ensembl ].
VAR_030602
Natural varianti509 – 5091S → F.1 Publication
Corresponds to variant rs17852970 [ dbSNP | Ensembl ].
VAR_030603

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei34 – 9865Missing in isoform 2. 1 PublicationVSP_053998Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449905 mRNA. Translation: BAH16648.1.
AK001944 mRNA. Translation: BAA91992.1.
AC093807 Genomic DNA. No translation available.
AC107390 Genomic DNA. No translation available.
BC031642 mRNA. Translation: AAH31642.1.
CCDSiCCDS3439.1. [Q8N5T2-1]
CCDS75115.1. [Q8N5T2-2]
RefSeqiNP_001278983.1. NM_001292054.1. [Q8N5T2-2]
NP_060787.2. NM_018317.3. [Q8N5T2-1]
UniGeneiHs.479403.

Genome annotation databases

EnsembliENST00000264866; ENSP00000264866; ENSG00000109680. [Q8N5T2-1]
ENST00000511789; ENSP00000425569; ENSG00000109680. [Q8N5T2-2]
GeneIDi55296.
KEGGihsa:55296.
UCSCiuc003gsf.5. human. [Q8N5T2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449905 mRNA. Translation: BAH16648.1.
AK001944 mRNA. Translation: BAA91992.1.
AC093807 Genomic DNA. No translation available.
AC107390 Genomic DNA. No translation available.
BC031642 mRNA. Translation: AAH31642.1.
CCDSiCCDS3439.1. [Q8N5T2-1]
CCDS75115.1. [Q8N5T2-2]
RefSeqiNP_001278983.1. NM_001292054.1. [Q8N5T2-2]
NP_060787.2. NM_018317.3. [Q8N5T2-1]
UniGeneiHs.479403.

3D structure databases

ProteinModelPortaliQ8N5T2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120583. 6 interactions.
IntActiQ8N5T2. 4 interactions.
STRINGi9606.ENSP00000264866.

PTM databases

iPTMnetiQ8N5T2.
PhosphoSiteiQ8N5T2.

Polymorphism and mutation databases

BioMutaiTBC1D19.
DMDMi296452921.

Proteomic databases

EPDiQ8N5T2.
MaxQBiQ8N5T2.
PaxDbiQ8N5T2.
PRIDEiQ8N5T2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264866; ENSP00000264866; ENSG00000109680. [Q8N5T2-1]
ENST00000511789; ENSP00000425569; ENSG00000109680. [Q8N5T2-2]
GeneIDi55296.
KEGGihsa:55296.
UCSCiuc003gsf.5. human. [Q8N5T2-1]

Organism-specific databases

CTDi55296.
GeneCardsiTBC1D19.
HGNCiHGNC:25624. TBC1D19.
HPAiHPA039592.
neXtProtiNX_Q8N5T2.
PharmGKBiPA134980991.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEUD. Eukaryota.
ENOG410XRPM. LUCA.
GeneTreeiENSGT00390000015965.
HOGENOMiHOG000007433.
HOVERGENiHBG055798.
InParanoidiQ8N5T2.
OMAiQCQRILE.
PhylomeDBiQ8N5T2.
TreeFamiTF323848.

Miscellaneous databases

ChiTaRSiTBC1D19. human.
GenomeRNAii55296.
NextBioi35481911.
PROiQ8N5T2.

Gene expression databases

BgeeiQ8N5T2.
CleanExiHS_TBC1D19.
ExpressionAtlasiQ8N5T2. baseline and differential.
GenevisibleiQ8N5T2. HS.

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]
ProtoNetiSearch...

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).
    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 1).
    Tissue: Placenta.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORM 1), VARIANT PHE-509.
    Tissue: Brain.

Entry informationi

Entry nameiTBC19_HUMAN
AccessioniPrimary (citable) accession number: Q8N5T2
Secondary accession number(s): B9A6M0, Q9NUX1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 15, 2005
Last sequence update: May 18, 2010
Last modified: March 16, 2016
This is version 93 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 4
    Human chromosome 4: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.