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Protein

TBC1 domain family member 30

Gene

TBC1D30

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • GTPase activator activity Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111490-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:29164. TBC1D30.

Subcellular locationi

  • Cell membrane 1 Publication; Peripheral membrane protein 1 Publication

GO - Cellular componenti

  • ciliary basal body Source: UniProtKB
  • cilium Source: UniProtKB
  • endomembrane system Source: GO_Central
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi303R → K: Loss of GAP activity. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000111490.
PharmGKBiPA162405327.

Polymorphism and mutation databases

BioMutaiTBC1D30.
DMDMi172046608.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003206521 – 924TBC1 domain family member 30Add BLAST924

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei800PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9Y2I9.
PeptideAtlasiQ9Y2I9.
PRIDEiQ9Y2I9.

PTM databases

iPTMnetiQ9Y2I9.
PhosphoSitePlusiQ9Y2I9.

Expressioni

Gene expression databases

BgeeiENSG00000111490.
CleanExiHS_TBC1D30.
ExpressionAtlasiQ9Y2I9. baseline and differential.

Organism-specific databases

HPAiHPA039772.
HPA040043.

Interactioni

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi116917. 5 interactors.
IntActiQ9Y2I9. 1 interactor.
STRINGi9606.ENSP00000440207.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2I9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini249 – 457Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST209

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG2058. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119137.
HOGENOMiHOG000090212.
HOVERGENiHBG108548.
InParanoidiQ9Y2I9.
OMAiEQNEGCK.
OrthoDBiEOG091G01S3.
PhylomeDBiQ9Y2I9.
TreeFamiTF321898.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR032738. Tbc1d30_C.
[Graphical view]
PfamiPF15733. DUF4682. 1 hit.
PF00566. 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. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti770A → S in BAG51513 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039261296Q → H.Corresponds to variant rs11615287dbSNPEnsembl.1
Natural variantiVAR_052544596N → D.Corresponds to variant rs2290527dbSNPEnsembl.1
Natural variantiVAR_039262752V → I.1 PublicationCorresponds to variant rs939875dbSNPEnsembl.1
Natural variantiVAR_059857759N → D.Corresponds to variant rs2290527dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0424271 – 215MDVLP…SQKRR → MRQDKLTGSLRRGGRCLKRQ GGGVGTILSNVLKKRSCISR TAPRLLCTLEPG in isoform 2 and isoform 3. 2 PublicationsAdd BLAST215
Alternative sequenceiVSP_042428792 – 924TRRTI…GTKKR → SSYKSLQMI in isoform 3. 1 PublicationAdd BLAST133

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001317115.1. NM_001330186.1.
NP_001317116.1. NM_001330187.1.
NP_001317117.1. NM_001330188.1.
NP_056094.1. NM_015279.1. [Q9Y2I9-2]
UniGeneiHs.192492.

Genome annotation databases

EnsembliENST00000539867; ENSP00000440207; ENSG00000111490. [Q9Y2I9-2]
GeneIDi23329.
KEGGihsa:23329.
UCSCiuc010sst.3. human. [Q9Y2I9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001317115.1. NM_001330186.1.
NP_001317116.1. NM_001330187.1.
NP_001317117.1. NM_001330188.1.
NP_056094.1. NM_015279.1. [Q9Y2I9-2]
UniGeneiHs.192492.

3D structure databases

ProteinModelPortaliQ9Y2I9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116917. 5 interactors.
IntActiQ9Y2I9. 1 interactor.
STRINGi9606.ENSP00000440207.

PTM databases

iPTMnetiQ9Y2I9.
PhosphoSitePlusiQ9Y2I9.

Polymorphism and mutation databases

BioMutaiTBC1D30.
DMDMi172046608.

Proteomic databases

PaxDbiQ9Y2I9.
PeptideAtlasiQ9Y2I9.
PRIDEiQ9Y2I9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000539867; ENSP00000440207; ENSG00000111490. [Q9Y2I9-2]
GeneIDi23329.
KEGGihsa:23329.
UCSCiuc010sst.3. human. [Q9Y2I9-1]

Organism-specific databases

CTDi23329.
GeneCardsiTBC1D30.
H-InvDBHIX0010786.
HGNCiHGNC:29164. TBC1D30.
HPAiHPA039772.
HPA040043.
MIMi615077. gene.
neXtProtiNX_Q9Y2I9.
OpenTargetsiENSG00000111490.
PharmGKBiPA162405327.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2058. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119137.
HOGENOMiHOG000090212.
HOVERGENiHBG108548.
InParanoidiQ9Y2I9.
OMAiEQNEGCK.
OrthoDBiEOG091G01S3.
PhylomeDBiQ9Y2I9.
TreeFamiTF321898.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111490-MONOMER.

Miscellaneous databases

GenomeRNAii23329.
PROiQ9Y2I9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111490.
CleanExiHS_TBC1D30.
ExpressionAtlasiQ9Y2I9. baseline and differential.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR032738. Tbc1d30_C.
[Graphical view]
PfamiPF15733. DUF4682. 1 hit.
PF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 106 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

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.