Human Gene TBC1D3C (uc002hlk.2) Description and Page Index
  Description: Homo sapiens TBC1 domain family, member 3C (TBC1D3C), mRNA.
RefSeq Summary (NM_001001418): This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [provided by RefSeq, Apr 2014]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: AK313329.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr17:34,581,085-34,592,032 Size: 10,948 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr17:34,581,400-34,590,454 Size: 9,055 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsGene AllelesRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Model InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:34,581,085-34,592,032)mRNA (may differ from genome)Protein (549 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=TBC1 domain family member 3C;
FUNCTION: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).
TISSUE SPECIFICITY: Expressed in pancreas, thymus and testis.
SIMILARITY: Contains 1 Rab-GAP TBC domain.

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.50 RPKM in Testis
Total median expression: 10.41 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.60150-0.364 Picture PostScript Text
3' UTR -75.10315-0.238 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000195 - Rab-GTPase-TBC_dom

Pfam Domains:
PF00566 - Rab-GTPase-TBC domain

SCOP Domains:
47923 - Ypt/Rab-GAP domain of gyp1p

ModBase Predicted Comparative 3D Structure on Q6IPX1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0017137 Rab GTPase binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0031338 regulation of vesicle fusion
GO:0090630 activation of GTPase activity

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0012505 endomembrane system
GO:0016020 membrane

-  Descriptions from all associated GenBank mRNAs
  BC047739 - Homo sapiens, Similar to Rab GTPase-activating protein PRC17, clone IMAGE:5743752, mRNA.
AK095385 - Homo sapiens cDNA FLJ38066 fis, clone CTONG2015330, highly similar to TBC1 domain family member 3.
AX775949 - Sequence 219 from Patent WO03048202.
AK302064 - Homo sapiens cDNA FLJ60943 complete cds, highly similar to TBC1 domain family member 3.
JD564057 - Sequence 545081 from Patent EP1572962.
BC033670 - Homo sapiens TBC1 domain family, member 3C, mRNA (cDNA clone IMAGE:5167394), with apparent retained intron.
AL136860 - Homo sapiens mRNA; cDNA DKFZp434P2235 (from clone DKFZp434P2235).
BC071680 - Homo sapiens TBC1 domain family, member 3C, mRNA (cDNA clone MGC:87891 IMAGE:5165385), complete cds.
JD564056 - Sequence 545080 from Patent EP1572962.
AK122833 - Homo sapiens cDNA FLJ16441 fis, clone BRAMY3003205, highly similar to TBC1 domain family member 3.
AK301823 - Homo sapiens cDNA FLJ60933 complete cds, highly similar to TBC1 domain family member 3.
AK225985 - Homo sapiens mRNA for TBC1 domain family, member 3B variant, clone: FCC111F05.
JD051127 - Sequence 32151 from Patent EP1572962.
JD387468 - Sequence 368492 from Patent EP1572962.
JD331728 - Sequence 312752 from Patent EP1572962.
DQ596533 - Homo sapiens piRNA piR-34599, complete sequence.
JD180957 - Sequence 161981 from Patent EP1572962.
AK292308 - Homo sapiens cDNA FLJ78248 complete cds, highly similar to Homo sapiens TBC1 domain family, member 3C, mRNA.
BC166651 - Synthetic construct Homo sapiens clone IMAGE:100066377, MGC:195514 TBC1 domain family, member 3B (TBC1D3B) mRNA, encodes complete protein.
KJ900751 - Synthetic construct Homo sapiens clone ccsbBroadEn_10145 TBC1D3C gene, encodes complete protein.
JD403132 - Sequence 384156 from Patent EP1572962.
JD108564 - Sequence 89588 from Patent EP1572962.
JD479347 - Sequence 460371 from Patent EP1572962.
DQ586912 - Homo sapiens piRNA piR-54024, complete sequence.
JD156491 - Sequence 137515 from Patent EP1572962.
JD255047 - Sequence 236071 from Patent EP1572962.
JD401275 - Sequence 382299 from Patent EP1572962.
JD230333 - Sequence 211357 from Patent EP1572962.
JD051082 - Sequence 32106 from Patent EP1572962.
JD127760 - Sequence 108784 from Patent EP1572962.
JD410419 - Sequence 391443 from Patent EP1572962.
DQ593548 - Homo sapiens piRNA piR-33660, complete sequence.
CU687138 - Synthetic construct Homo sapiens gateway clone IMAGE:100022857 5' read TBC1D3C mRNA.
KJ904287 - Synthetic construct Homo sapiens clone ccsbBroadEn_13681 TBC1D3C gene, encodes complete protein.
DQ591906 - Homo sapiens piRNA piR-59018, complete sequence.
DQ570380 - Homo sapiens piRNA piR-30492, complete sequence.
DQ574122 - Homo sapiens piRNA piR-42234, complete sequence.
JD375173 - Sequence 356197 from Patent EP1572962.
JD396488 - Sequence 377512 from Patent EP1572962.
JD269152 - Sequence 250176 from Patent EP1572962.
JD217875 - Sequence 198899 from Patent EP1572962.
JD217876 - Sequence 198900 from Patent EP1572962.
JD197123 - Sequence 178147 from Patent EP1572962.
JD104843 - Sequence 85867 from Patent EP1572962.
DQ597463 - Homo sapiens piRNA piR-35529, complete sequence.
JD205217 - Sequence 186241 from Patent EP1572962.
JD211344 - Sequence 192368 from Patent EP1572962.
JD049843 - Sequence 30867 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001001418, NP_001001418, Q6IPX1, TBC1D3D, TBC3C_HUMAN
UCSC ID: uc002hlk.2
RefSeq Accession: NM_001001418
Protein: Q6IPX1 (aka TBC3C_HUMAN)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001001418.4
exon count: 14CDS single in 3' UTR: no RNA size: 2140
ORF size: 1650CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2570.00frame shift in genome: no % Coverage: 98.83
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.