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Protein

TBC1 domain family member 3C

Gene

TBC1D3C

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

Functioni

Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 3C
Gene namesi
Name:TBC1D3C
Synonyms:TBC1D3D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:24889. TBC1D3C.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145007622.

Polymorphism and mutation databases

DMDMi296452923.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 549549TBC1 domain family member 3CPRO_0000300265Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi318 – 3181S-palmitoyl cysteineBy similarity
Lipidationi325 – 3251S-palmitoyl cysteineBy similarity

Post-translational modificationi

Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.By similarity
Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.By similarity

Keywords - PTMi

Lipoprotein, Palmitate, Ubl conjugation

Proteomic databases

PaxDbiQ6IPX1.
PRIDEiQ6IPX1.

PTM databases

iPTMnetiQ6IPX1.
PhosphoSiteiQ6IPX1.

Expressioni

Tissue specificityi

Expressed in pancreas, thymus and testis.1 Publication

Gene expression databases

BgeeiQ6IPX1.
CleanExiHS_TBC1D3C.
GenevisibleiQ6IPX1. HS.

Organism-specific databases

HPAiHPA046969.
HPA047745.
HPA052553.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

STRINGi9606.ENSP00000329256.

Structurei

3D structure databases

ProteinModelPortaliQ6IPX1.
SMRiQ6IPX1. Positions 78-314.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini101 – 293193Rab-GAP TBCPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG1102. Eukaryota.
COG5210. LUCA.
HOVERGENiHBG061154.
InParanoidiQ6IPX1.
KOiK20134.
OrthoDBiEOG7SN8CC.
TreeFamiTF318099.

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. 1 hit.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6IPX1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG
60 70 80 90 100
IVHETELPPL TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK
110 120 130 140 150
GMPMNIRGPM WSVLLNTEEM KLKNPGRYQI MKEKGKRSSE HIQRIDRDVS
160 170 180 190 200
GTLRKHIFFR DRYGTKQREL LHILLAYEEY NPEVGYCRDL SHIAALFLLY
210 220 230 240 250
LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE HVVATSQPKT
260 270 280 290 300
MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
310 320 330 340 350
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL
360 370 380 390 400
TRKKGDLPPP AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP
410 420 430 440 450
IWSASPPRAP RSSTPCPGGA VREDTYPVGT QGVPSPALAQ GGPQGSWRFL
460 470 480 490 500
QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV RAISQEDQLA PCWQAEHPAE
510 520 530 540
RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL ESSQFPPGF
Length:549
Mass (Da):62,187
Last modified:January 7, 2015 - v3
Checksum:i12F56291F685F06E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti117 – 1171T → I in AAH71680 (PubMed:15489334).Curated
Sequence conflicti149 – 1491V → I in AAH71680 (PubMed:15489334).Curated
Sequence conflicti157 – 1571I → M in AAH71680 (PubMed:15489334).Curated
Sequence conflicti354 – 3541K → Q in AAH71680 (PubMed:15489334).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC233968 Genomic DNA. No translation available.
BC071680 mRNA. Translation: AAH71680.1.
CCDSiCCDS74045.1.
RefSeqiNP_001001418.5. NM_001001418.6.
NP_001116863.3. NM_001123391.3.
NP_001278391.1. NM_001291462.1.
UniGeneiHs.454716.
Hs.735975.
Hs.743999.

Genome annotation databases

EnsembliENST00000622206; ENSP00000482345; ENSG00000278299.
GeneIDi101060321.
414060.
729873.
KEGGihsa:101060321.
hsa:414060.
hsa:729873.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC233968 Genomic DNA. No translation available.
BC071680 mRNA. Translation: AAH71680.1.
CCDSiCCDS74045.1.
RefSeqiNP_001001418.5. NM_001001418.6.
NP_001116863.3. NM_001123391.3.
NP_001278391.1. NM_001291462.1.
UniGeneiHs.454716.
Hs.735975.
Hs.743999.

3D structure databases

ProteinModelPortaliQ6IPX1.
SMRiQ6IPX1. Positions 78-314.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000329256.

PTM databases

iPTMnetiQ6IPX1.
PhosphoSiteiQ6IPX1.

Polymorphism and mutation databases

DMDMi296452923.

Proteomic databases

PaxDbiQ6IPX1.
PRIDEiQ6IPX1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000622206; ENSP00000482345; ENSG00000278299.
GeneIDi101060321.
414060.
729873.
KEGGihsa:101060321.
hsa:414060.
hsa:729873.

Organism-specific databases

CTDi101060321.
414060.
729873.
GeneCardsiTBC1D3C.
H-InvDBHIX0039093.
HIX0039175.
HGNCiHGNC:24889. TBC1D3C.
HPAiHPA046969.
HPA047745.
HPA052553.
MIMi610806. gene.
neXtProtiNX_Q6IPX1.
PharmGKBiPA145007622.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1102. Eukaryota.
COG5210. LUCA.
HOVERGENiHBG061154.
InParanoidiQ6IPX1.
KOiK20134.
OrthoDBiEOG7SN8CC.
TreeFamiTF318099.

Miscellaneous databases

PROiQ6IPX1.
SOURCEiSearch...

Gene expression databases

BgeeiQ6IPX1.
CleanExiHS_TBC1D3C.
GenevisibleiQ6IPX1. 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. 1 hit.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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].
    Tissue: Brain.
  3. "TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12."
    Hodzic D., Kong C., Wainszelbaum M.J., Charron A.J., Su X., Stahl P.D.
    Genomics 88:731-736(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NOMENCLATURE, TISSUE SPECIFICITY.
  4. Cited for: MISCELLANEOUS, COPY NUMBER VARIATION.

Entry informationi

Entry nameiTBC3C_HUMAN
AccessioniPrimary (citable) accession number: Q6IPX1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: January 7, 2015
Last modified: July 6, 2016
This is version 116 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

Miscellaneous

TBC1D3 is encoded by a collection of very similar paralogs with multiple copies of each paralog, some human genomes encoding well over 50 copies depending on ethnic origin of the donor.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.