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Protein

TBC1 domain family member 13

Gene

TBC1D13

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 13
Gene namesi
Name:TBC1D13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:25571. TBC1D13.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000107021.
PharmGKBiPA134898118.

Polymorphism and mutation databases

BioMutaiTBC1D13.
DMDMi308153549.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080381 – 400TBC1 domain family member 13Add BLAST400

Proteomic databases

EPDiQ9NVG8.
MaxQBiQ9NVG8.
PaxDbiQ9NVG8.
PeptideAtlasiQ9NVG8.
PRIDEiQ9NVG8.

PTM databases

iPTMnetiQ9NVG8.
PhosphoSitePlusiQ9NVG8.

Expressioni

Gene expression databases

BgeeiENSG00000107021.
CleanExiHS_TBC1D13.
ExpressionAtlasiQ9NVG8. baseline and differential.
GenevisibleiQ9NVG8. HS.

Organism-specific databases

HPAiHPA045865.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120091. 2 interactors.
IntActiQ9NVG8. 2 interactors.
STRINGi9606.ENSP00000361731.

Structurei

3D structure databases

ProteinModelPortaliQ9NVG8.
SMRiQ9NVG8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini35 – 345Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST311

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG4567. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00860000133795.
HOGENOMiHOG000006332.
HOVERGENiHBG058240.
InParanoidiQ9NVG8.
OMAiHERVVPS.
OrthoDBiEOG091G07A5.
PhylomeDBiQ9NVG8.
TreeFamiTF105911.

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. 4 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: Q9NVG8-1) [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
MSSLHKSRIA DFQDVLKEPS IALEKLRELS FSGIPCEGGL RCLCWKILLN
60 70 80 90 100
YLPLERASWT SILAKQRELY AQFLREMIIQ PGIAKANMGV SREDVTFEDH
110 120 130 140 150
PLNPNPDSRW NTYFKDNEVL LQIDKDVRRL CPDISFFQRA TDYPCLLILD
160 170 180 190 200
PQNEFETLRK RVEQTTLKSQ TVARNRSGVT NMSSPHKNSV PSSLNEYEVL
210 220 230 240 250
PNGCEAHWEV VERILFIYAK LNPGIAYVQG MNEIVGPLYY TFATDPNSEW
260 270 280 290 300
KEHAEADTFF CFTNLMAEIR DNFIKSLDDS QCGITYKMEK VYSTLKDKDV
310 320 330 340 350
ELYLKLQEQN IKPQFFAFRW LTLLLSQEFL LPDVIRIWDS LFADDNRFDF
360 370 380 390 400
LLLVCCAMLM LIREQLLEGD FTVNMRLLQD YPITDVCQIL QKAKELQDSK
Length:400
Mass (Da):46,554
Last modified:October 5, 2010 - v3
Checksum:i9FD10CC4035ACC7F
GO
Isoform 2 (identifier: Q9NVG8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     182-306: Missing.

Show »
Length:275
Mass (Da):32,171
Checksum:i38AF7B7C367EAB75
GO
Isoform 3 (identifier: Q9NVG8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-181: Missing.

Note: No experimental confirmation available.
Show »
Length:219
Mass (Da):25,596
Checksum:i4D6EEB0F98BE741D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti101P → T in AAI50312 (PubMed:15489334).Curated1
Sequence conflicti223P → H in AAI50312 (PubMed:15489334).Curated1
Sequence conflicti335I → T in BAA91784 (PubMed:19077034).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070804190V → A.1 PublicationCorresponds to variant rs1572912dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0539941 – 181Missing in isoform 3. 1 PublicationAdd BLAST181
Alternative sequenceiVSP_039845182 – 306Missing in isoform 2. 1 PublicationAdd BLAST125

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449899 mRNA. Translation: BAH16642.1.
AK001605 mRNA. Translation: BAA91784.1.
AK123828 mRNA. Translation: BAG53966.1.
AK289777 mRNA. Translation: BAF82466.1.
AL441992 Genomic DNA. Translation: CAI15410.1.
AL441992 Genomic DNA. Translation: CAI15411.1.
CH471090 Genomic DNA. Translation: EAW87832.1.
CH471090 Genomic DNA. Translation: EAW87833.1.
CH471090 Genomic DNA. Translation: EAW87835.1.
BC132817 mRNA. Translation: AAI32818.1.
BC136509 mRNA. Translation: AAI36510.1.
BC150311 mRNA. Translation: AAI50312.1.
CCDSiCCDS6911.1. [Q9NVG8-1]
CCDS69677.1. [Q9NVG8-2]
RefSeqiNP_001273701.1. NM_001286772.1. [Q9NVG8-2]
NP_060671.3. NM_018201.4. [Q9NVG8-1]
UniGeneiHs.3376.

Genome annotation databases

EnsembliENST00000223865; ENSP00000223865; ENSG00000107021. [Q9NVG8-2]
ENST00000372648; ENSP00000361731; ENSG00000107021. [Q9NVG8-1]
GeneIDi54662.
KEGGihsa:54662.
UCSCiuc010myj.5. human. [Q9NVG8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449899 mRNA. Translation: BAH16642.1.
AK001605 mRNA. Translation: BAA91784.1.
AK123828 mRNA. Translation: BAG53966.1.
AK289777 mRNA. Translation: BAF82466.1.
AL441992 Genomic DNA. Translation: CAI15410.1.
AL441992 Genomic DNA. Translation: CAI15411.1.
CH471090 Genomic DNA. Translation: EAW87832.1.
CH471090 Genomic DNA. Translation: EAW87833.1.
CH471090 Genomic DNA. Translation: EAW87835.1.
BC132817 mRNA. Translation: AAI32818.1.
BC136509 mRNA. Translation: AAI36510.1.
BC150311 mRNA. Translation: AAI50312.1.
CCDSiCCDS6911.1. [Q9NVG8-1]
CCDS69677.1. [Q9NVG8-2]
RefSeqiNP_001273701.1. NM_001286772.1. [Q9NVG8-2]
NP_060671.3. NM_018201.4. [Q9NVG8-1]
UniGeneiHs.3376.

3D structure databases

ProteinModelPortaliQ9NVG8.
SMRiQ9NVG8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120091. 2 interactors.
IntActiQ9NVG8. 2 interactors.
STRINGi9606.ENSP00000361731.

PTM databases

iPTMnetiQ9NVG8.
PhosphoSitePlusiQ9NVG8.

Polymorphism and mutation databases

BioMutaiTBC1D13.
DMDMi308153549.

Proteomic databases

EPDiQ9NVG8.
MaxQBiQ9NVG8.
PaxDbiQ9NVG8.
PeptideAtlasiQ9NVG8.
PRIDEiQ9NVG8.

Protocols and materials databases

DNASUi54662.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000223865; ENSP00000223865; ENSG00000107021. [Q9NVG8-2]
ENST00000372648; ENSP00000361731; ENSG00000107021. [Q9NVG8-1]
GeneIDi54662.
KEGGihsa:54662.
UCSCiuc010myj.5. human. [Q9NVG8-1]

Organism-specific databases

CTDi54662.
GeneCardsiTBC1D13.
H-InvDBHIX0008436.
HGNCiHGNC:25571. TBC1D13.
HPAiHPA045865.
MIMi616218. gene.
neXtProtiNX_Q9NVG8.
OpenTargetsiENSG00000107021.
PharmGKBiPA134898118.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4567. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00860000133795.
HOGENOMiHOG000006332.
HOVERGENiHBG058240.
InParanoidiQ9NVG8.
OMAiHERVVPS.
OrthoDBiEOG091G07A5.
PhylomeDBiQ9NVG8.
TreeFamiTF105911.

Miscellaneous databases

ChiTaRSiTBC1D13. human.
GenomeRNAii54662.
PROiQ9NVG8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107021.
CleanExiHS_TBC1D13.
ExpressionAtlasiQ9NVG8. baseline and differential.
GenevisibleiQ9NVG8. 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. 4 hits.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBC13_HUMAN
AccessioniPrimary (citable) accession number: Q9NVG8
Secondary accession number(s): A7E2E7
, B3KW04, B9EGJ8, Q5T270, Q5T271
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: October 5, 2010
Last modified: November 30, 2016
This is version 115 of the entry and version 3 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 9
    Human chromosome 9: 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.