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Protein

TBC1 domain family member 30

Gene

TBC1D30

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

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

EuPathDBiHostDB:ENSG00000111490.12
HGNCiHGNC:29164 TBC1D30
MIMi615077 gene
neXtProtiNX_Q9Y2I9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

EPDiQ9Y2I9
PaxDbiQ9Y2I9
PeptideAtlasiQ9Y2I9
PRIDEiQ9Y2I9
ProteomicsDBi85806
85807 [Q9Y2I9-2]
85808 [Q9Y2I9-3]

PTM databases

iPTMnetiQ9Y2I9
PhosphoSitePlusiQ9Y2I9

Expressioni

Gene expression databases

BgeeiENSG00000111490 Expressed in 166 organ(s), highest expression level in neocortex
CleanExiHS_TBC1D30
ExpressionAtlasiQ9Y2I9 baseline and differential

Organism-specific databases

HPAiHPA039772
HPA040043

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116917, 6 interactors
IntActiQ9Y2I9, 10 interactors
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

Phylogenomic databases

eggNOGiKOG2058 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00760000119137
HOGENOMiHOG000090212
HOVERGENiHBG108548
InParanoidiQ9Y2I9
OMAiNSPVINH
OrthoDBiEOG091G01S3
PhylomeDBiQ9Y2I9
TreeFamiTF321898

Family and domain databases

InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR032738 Tbc1d30_C
PfamiView protein in Pfam
PF15733 DUF4682, 1 hit
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 (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VZ81F8VZ81_HUMAN
TBC1 domain family member 30
TBC1D30
647Annotation score:
F5H7L7F5H7L7_HUMAN
TBC1 domain family member 30
TBC1D30
91Annotation score:
F5H0E8F5H0E8_HUMAN
TBC1 domain family member 30
TBC1D30
123Annotation score:
F5GY74F5GY74_HUMAN
TBC1 domain family member 30
TBC1D30
146Annotation score:

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 dbSNP:rs11615287Ensembl.1
Natural variantiVAR_052544596N → D. Corresponds to variant dbSNP:rs2290527Ensembl.1
Natural variantiVAR_039262752V → I1 PublicationCorresponds to variant dbSNP:rs939875Ensembl.1
Natural variantiVAR_059857759N → D. Corresponds to variant dbSNP:rs2290527Ensembl.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

Similar proteinsi

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, 6 interactors
IntActiQ9Y2I9, 10 interactors
STRINGi9606.ENSP00000440207

PTM databases

iPTMnetiQ9Y2I9
PhosphoSitePlusiQ9Y2I9

Polymorphism and mutation databases

BioMutaiTBC1D30
DMDMi172046608

Proteomic databases

EPDiQ9Y2I9
PaxDbiQ9Y2I9
PeptideAtlasiQ9Y2I9
PRIDEiQ9Y2I9
ProteomicsDBi85806
85807 [Q9Y2I9-2]
85808 [Q9Y2I9-3]

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
EuPathDBiHostDB:ENSG00000111490.12
GeneCardsiTBC1D30
H-InvDBiHIX0010786
HGNCiHGNC:29164 TBC1D30
HPAiHPA039772
HPA040043
MIMi615077 gene
neXtProtiNX_Q9Y2I9
OpenTargetsiENSG00000111490
PharmGKBiPA162405327
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2058 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00760000119137
HOGENOMiHOG000090212
HOVERGENiHBG108548
InParanoidiQ9Y2I9
OMAiNSPVINH
OrthoDBiEOG091G01S3
PhylomeDBiQ9Y2I9
TreeFamiTF321898

Miscellaneous databases

ChiTaRSiTBC1D30 human
GenomeRNAii23329
PROiPR:Q9Y2I9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111490 Expressed in 166 organ(s), highest expression level in neocortex
CleanExiHS_TBC1D30
ExpressionAtlasiQ9Y2I9 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR032738 Tbc1d30_C
PfamiView protein in Pfam
PF15733 DUF4682, 1 hit
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
ProtoNetiSearch...

Entry informationi

Entry nameiTBC30_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2I9
Secondary accession number(s): B3KP01
, B9A6M9, E7EMW4, F5GYJ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: September 12, 2018
This is version 117 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

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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
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