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Protein

TBC1 domain family member 19

Gene

TBC1D19

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

Functioni

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

GO - Molecular functioni

Keywordsi

Molecular functionGTPase 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

EuPathDBiHostDB:ENSG00000109680.10
HGNCiHGNC:25624 TBC1D19
neXtProtiNX_Q8N5T2

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000109680
PharmGKBiPA134980991

Polymorphism and mutation databases

BioMutaiTBC1D19
DMDMi296452921

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080471 – 526TBC1 domain family member 19Add BLAST526

Proteomic databases

MaxQBiQ8N5T2
PaxDbiQ8N5T2
PeptideAtlasiQ8N5T2
PRIDEiQ8N5T2

PTM databases

iPTMnetiQ8N5T2
PhosphoSitePlusiQ8N5T2

Expressioni

Gene expression databases

BgeeiENSG00000109680
CleanExiHS_TBC1D19
ExpressionAtlasiQ8N5T2 baseline and differential
GenevisibleiQ8N5T2 HS

Organism-specific databases

HPAiHPA039592

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MAGEA12P433653EBI-1221022,EBI-749530

Protein-protein interaction databases

BioGridi120583, 6 interactors
IntActiQ8N5T2, 6 interactors
MINTiQ8N5T2
STRINGi9606.ENSP00000264866

Structurei

3D structure databases

ProteinModelPortaliQ8N5T2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini251 – 472Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST222

Phylogenomic databases

eggNOGiENOG410IEUD Eukaryota
ENOG410XRPM LUCA
GeneTreeiENSGT00390000015965
HOGENOMiHOG000007433
HOVERGENiHBG055798
InParanoidiQ8N5T2
OMAiCFLYNEP
OrthoDBiEOG091G05UF
PhylomeDBiQ8N5T2
TreeFamiTF323848

Family and domain databases

InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti176L → P in BAA91992 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030602241S → G. Corresponds to variant dbSNP:rs16878555Ensembl.1
Natural variantiVAR_030603509S → F1 PublicationCorresponds to variant dbSNP:rs17852970Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05399834 – 98Missing in isoform 2. 1 PublicationAdd BLAST65

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

Similar proteinsi

Entry informationi

Entry nameiTBC19_HUMAN
AccessioniPrimary (citable) accession number: Q8N5T2
Secondary accession number(s): B9A6M0, Q9NUX1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 15, 2005
Last sequence update: May 18, 2010
Last modified: May 23, 2018
This is version 107 of the entry and version 2 of the sequence. See 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

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