Human Gene TTC1 (ENST00000231238.10) from GENCODE V44
  Description: Homo sapiens tetratricopeptide repeat domain 1 (TTC1), transcript variant 1, mRNA. (from RefSeq NM_003314)
RefSeq Summary (NM_003314): This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].
Gencode Transcript: ENST00000231238.10
Gencode Gene: ENSG00000113312.12
Transcript (Including UTRs)
   Position: hg38 chr5:160,009,139-160,065,543 Size: 56,405 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr5:160,010,529-160,065,065 Size: 54,537 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:160,009,139-160,065,543)mRNA (may differ from genome)Protein (292 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TTC1_HUMAN
DESCRIPTION: RecName: Full=Tetratricopeptide repeat protein 1; Short=TPR repeat protein 1;
SUBUNIT: Interacts with the GAP domain of NF1.
SIMILARITY: Contains 3 TPR repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TTC1
Diseases sorted by gene-association score: dysthymic disorder (8), tricuspid valve insufficiency (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 42.67 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 1307.93 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.5084-0.292 Picture PostScript Text
3' UTR -134.80478-0.282 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
IPR023114 - Elongated_TPR_rpt_dom
IPR001440 - TPR-1
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF00515 - Tetratricopeptide repeat

ModBase Predicted Comparative 3D Structure on Q99614
FrontTopSide
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
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0051082 unfolded protein binding

Biological Process:
GO:0006457 protein folding

Cellular Component:
GO:0005778 peroxisomal membrane
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK315262 - Homo sapiens cDNA, FLJ96271, Homo sapiens tetratricopeptide repeat domain 1 (TTC1), mRNA.
AK222641 - Homo sapiens mRNA for tetratricopeptide repeat domain 1 variant, clone: CBL04274.
AK222984 - Homo sapiens mRNA for tetratricopeptide repeat domain 1 variant, clone: HSI05523.
U46570 - Human tetratricopeptide repeat protein (tpr1) mRNA, complete cds.
BC000942 - Homo sapiens tetratricopeptide repeat domain 1, mRNA (cDNA clone MGC:5385 IMAGE:3446109), complete cds.
KJ897711 - Synthetic construct Homo sapiens clone ccsbBroadEn_07105 TTC1 gene, encodes complete protein.
AB590123 - Synthetic construct DNA, clone: pFN21AE2164, Homo sapiens TTC1 gene for tetratricopeptide repeat domain 1, without stop codon, in Flexi system.
DQ894171 - Synthetic construct Homo sapiens clone IMAGE:100008631; FLH168331.01L; RZPDo839F0691D tetratricopeptide repeat domain 1 (TTC1) gene, encodes complete protein.
DQ890993 - Synthetic construct clone IMAGE:100003623; FLH168335.01X; RZPDo839F0692D tetratricopeptide repeat domain 1 (TTC1) gene, encodes complete protein.
AK128840 - Homo sapiens cDNA FLJ46404 fis, clone THYMU3008935.
JD313091 - Sequence 294115 from Patent EP1572962.
JD039941 - Sequence 20965 from Patent EP1572962.
JD361593 - Sequence 342617 from Patent EP1572962.
JD427997 - Sequence 409021 from Patent EP1572962.
JD037709 - Sequence 18733 from Patent EP1572962.
JD089784 - Sequence 70808 from Patent EP1572962.
JD229585 - Sequence 210609 from Patent EP1572962.
JD097259 - Sequence 78283 from Patent EP1572962.
JD503770 - Sequence 484794 from Patent EP1572962.
JD056798 - Sequence 37822 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RCT2, D3DQJ8, ENST00000231238.1, ENST00000231238.2, ENST00000231238.3, ENST00000231238.4, ENST00000231238.5, ENST00000231238.6, ENST00000231238.7, ENST00000231238.8, ENST00000231238.9, NM_003314, Q99614, Q9BVT3, TPR1, TTC1_HUMAN, uc003lxu.1, uc003lxu.2, uc003lxu.3, uc003lxu.4, uc003lxu.5, uc003lxu.6
UCSC ID: ENST00000231238.10
RefSeq Accession: NM_003314
Protein: Q99614 (aka TTC1_HUMAN)
CCDS: CCDS4348.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.