Human Gene TTC7A (ENST00000319190.11_9) from GENCODE V47lift37
  Description: tetratricopeptide repeat domain 7A, transcript variant 2 (from RefSeq NM_020458.4)
Gencode Transcript: ENST00000319190.11_9
Gencode Gene: ENSG00000068724.18_16
Transcript (Including UTRs)
   Position: hg19 chr2:47,168,363-47,303,262 Size: 134,900 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr2:47,168,681-47,301,062 Size: 132,382 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:47,168,363-47,303,262)mRNA (may differ from genome)Protein (858 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TTC7A_HUMAN
DESCRIPTION: RecName: Full=Tetratricopeptide repeat protein 7A; Short=TPR repeat protein 7A;
SIMILARITY: Contains 9 TPR repeats.
SEQUENCE CAUTION: Sequence=BAA86454.2; Type=Erroneous translation; Note=Wrong choice of CDS;

-  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: TTC7A
Diseases sorted by gene-association score: gastrointestinal defects and immunodeficiency syndrome* (1689), intestinal atresia (29), combined t cell and b cell immunodeficiency (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 48.14 RPKM in Testis
Total median expression: 441.92 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -167.60318-0.527 Picture PostScript Text
3' UTR -896.802200-0.408 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
IPR001440 - TPR-1
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat
IPR026900 - Ttc7

Pfam Domains:
PF13181 - Tetratricopeptide repeat
PF13432 - Tetratricopeptide repeat
PF19440 - Tetratricopeptide repeat protein 7 N-terminal

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
116846 - MIT domain

ModBase Predicted Comparative 3D Structure on Q9ULT0
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006879 cellular iron ion homeostasis
GO:0030097 hemopoiesis
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK056464 - Homo sapiens cDNA FLJ31902 fis, clone NT2RP7004233, highly similar to Tetratricopeptide repeat protein 7A.
AL834383 - Homo sapiens mRNA; cDNA DKFZp434B0626 (from clone DKFZp434B0626).
BC047709 - Homo sapiens cDNA clone IMAGE:5757418, **** WARNING: chimeric clone ****.
BC111487 - Homo sapiens tetratricopeptide repeat domain 7A, mRNA (cDNA clone MGC:131720 IMAGE:6041916), complete cds.
BC114365 - Homo sapiens tetratricopeptide repeat domain 7A, mRNA (cDNA clone MGC:134830 IMAGE:40038218), complete cds.
AB032966 - Homo sapiens KIAA1140 mRNA for KIAA1140 protein.
AB384570 - Synthetic construct DNA, clone: pF1KA1140, Homo sapiens TTC7A gene for tetratricopeptide repeat protein 7A, complete cds, without stop codon, in Flexi system.
JD405376 - Sequence 386400 from Patent EP1572962.
JD425022 - Sequence 406046 from Patent EP1572962.
JD444508 - Sequence 425532 from Patent EP1572962.
JD424245 - Sequence 405269 from Patent EP1572962.
JD200770 - Sequence 181794 from Patent EP1572962.
JD115990 - Sequence 97014 from Patent EP1572962.
JD389334 - Sequence 370358 from Patent EP1572962.
JD339240 - Sequence 320264 from Patent EP1572962.
JD128755 - Sequence 109779 from Patent EP1572962.
DQ581682 - Homo sapiens piRNA piR-49794, complete sequence.
BC065554 - Homo sapiens tetratricopeptide repeat domain 7A, mRNA (cDNA clone IMAGE:6041869), partial cds.
BC035708 - Homo sapiens tetratricopeptide repeat domain 7A, mRNA (cDNA clone IMAGE:5577216), with apparent retained intron.
BC082965 - Homo sapiens cDNA clone IMAGE:6215656.
KJ902944 - Synthetic construct Homo sapiens clone ccsbBroadEn_12338 TTC7A gene, encodes complete protein.
LF210955 - JP 2014500723-A/18458: Polycomb-Associated Non-Coding RNAs.
BC001978 - Homo sapiens tetratricopeptide repeat domain 7A, mRNA (cDNA clone IMAGE:3461487), partial cds.
BC027457 - Homo sapiens tetratricopeptide repeat domain 7A, mRNA (cDNA clone IMAGE:5113102), partial cds.
JD103735 - Sequence 84759 from Patent EP1572962.
JD343309 - Sequence 324333 from Patent EP1572962.
JD466062 - Sequence 447086 from Patent EP1572962.
JD468229 - Sequence 449253 from Patent EP1572962.
JD544787 - Sequence 525811 from Patent EP1572962.
JD219507 - Sequence 200531 from Patent EP1572962.
JD307460 - Sequence 288484 from Patent EP1572962.
JD057300 - Sequence 38324 from Patent EP1572962.
AL117512 - Homo sapiens mRNA; cDNA DKFZp434K1835 (from clone DKFZp434K1835).
JD259926 - Sequence 240950 from Patent EP1572962.
JD234799 - Sequence 215823 from Patent EP1572962.
JD546428 - Sequence 527452 from Patent EP1572962.
MA446532 - JP 2018138019-A/18458: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000319190.1, ENST00000319190.10, ENST00000319190.2, ENST00000319190.3, ENST00000319190.4, ENST00000319190.5, ENST00000319190.6, ENST00000319190.7, ENST00000319190.8, ENST00000319190.9, KIAA1140 , NM_020458, Q2T9J9, Q6PIX4, Q8ND67, Q9BUS3, Q9ULT0, TTC7, TTC7A , TTC7A_HUMAN, uc317qpp.1, uc317qpp.2
UCSC ID: ENST00000319190.11_9
RefSeq Accession: NM_020458.4
Protein: Q9ULT0 (aka TTC7A_HUMAN or TTC7_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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