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Entry version 178 (12 Aug 2020)
Sequence version 3 (22 Aug 2003)
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Protein

Tetratricopeptide repeat protein 7A

Gene

TTC7A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns4P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity).By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9ULT0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Tetratricopeptide repeat protein 7ACurated
Short name:
TPR repeat protein 7ACurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TTC7AImported
Synonyms:KIAA11401 Publication, TTC7
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000068724.15

Human Gene Nomenclature Database

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HGNCi
HGNC:19750, TTC7A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609332, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9ULT0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Gastrointestinal defects and immunodeficiency syndrome (GIDID)8 Publications
The disease is caused by mutations affecting the gene represented in this entry. Phenotypic variations have been observed: the mildest case show intestinal aberrations consisting of bloody diarrhea, apoptotic enterocolitis, and acute graft-versus-host disease- (GVHD)-like symptoms, but no atresias (PubMed:25546680). Other patients show multiple intestinal atresias, some being associated with immunodeficiency syndrome, while other do not show immunodeficiency defects (PubMed:23423984).2 Publications
Disease descriptionA rare, severe congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07512671E → K in GIDID; reduced interaction with PI4KA. 1 PublicationCorresponds to variant dbSNP:rs147914967EnsemblClinVar.1
Natural variantiVAR_075127277Missing in GIDID. 1 Publication1
Natural variantiVAR_075128336Missing in GIDID. 1 Publication1
Natural variantiVAR_075129346L → P in GIDID. 1 Publication1
Natural variantiVAR_075130399L → P in GIDID. 1 Publication1
Natural variantiVAR_075131526Missing in GIDID. 1 Publication1
Natural variantiVAR_075132539S → L in GIDID. 1 PublicationCorresponds to variant dbSNP:rs776906926EnsemblClinVar.1
Natural variantiVAR_075133551A → D in GIDID. 1 Publication1
Natural variantiVAR_075134606K → R in GIDID; compound heterozygous with P-672. 1 PublicationCorresponds to variant dbSNP:rs139010200EnsemblClinVar.1
Natural variantiVAR_075135672S → P in GIDID; compound heterozygous with R-606. 1 PublicationCorresponds to variant dbSNP:rs149602485EnsemblClinVar.1
Natural variantiVAR_075136678Missing in GIDID. 1 Publication1
Natural variantiVAR_075137712Missing in GIDID. 1 Publication1
Natural variantiVAR_069636823L → P in GIDID. 2 PublicationsCorresponds to variant dbSNP:rs587776972EnsemblClinVar.1
Natural variantiVAR_075138828Missing in GIDID. 1 Publication1
Natural variantiVAR_075139832A → T in GIDID; reduced interaction with PI4KA. 1 PublicationCorresponds to variant dbSNP:rs876657393EnsemblClinVar.1
Natural variantiVAR_075140832Missing in GIDID. 1 Publication1
Natural variantiVAR_075141857Missing in GIDID. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
57217

MalaCards human disease database

More...
MalaCardsi
TTC7A
MIMi243150, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000068724

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
436252, Combined immunodeficiency-enteropathy spectrum
2300, Multiple intestinal atresia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134993362

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9ULT0, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TTC7A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
34223742

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001063851 – 858Tetratricopeptide repeat protein 7AAdd BLAST858

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei51PhosphoserineCombined sources1
Modified residuei182PhosphoserineCombined sources1
Modified residuei647PhosphoserineCombined sources1
Modified residuei678PhosphoserineBy similarity1
Modified residuei679PhosphoserineBy similarity1
Modified residuei690PhosphoserineCombined sources1
Modified residuei693PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9ULT0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9ULT0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9ULT0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9ULT0

PeptideAtlas

More...
PeptideAtlasi
Q9ULT0

PRoteomics IDEntifications database

More...
PRIDEi
Q9ULT0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
61446
85104 [Q9ULT0-1]
85105 [Q9ULT0-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9ULT0, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9ULT0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9ULT0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in epithelial cells of the intestine, thymus, and pancreas (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000068724, Expressed in testis and 200 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9ULT0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9ULT0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000068724, Tissue enhanced (lymphoid)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:24417819).

Interacts with PI4KA, interaction is direct (By similarity).

Interacts with EFR3 (EFR3A or EFR3B), interaction is direct (By similarity).

Interacts with FAM126 (FAM126A or FAM126B), interaction is direct (By similarity). Association with the PI4K complex is strongly reduced by TMEM150A (By similarity).

By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
121455, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q9ULT0, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000378320

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9ULT0, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9ULT0

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati121 – 157TPR 1Sequence analysisAdd BLAST37
Repeati177 – 210TPR 2Sequence analysisAdd BLAST34
Repeati414 – 447TPR 3Sequence analysisAdd BLAST34
Repeati497 – 531TPR 4Sequence analysisAdd BLAST35
Repeati533 – 565TPR 5Sequence analysisAdd BLAST33
Repeati566 – 599TPR 6Sequence analysisAdd BLAST34
Repeati745 – 778TPR 7Sequence analysisAdd BLAST34
Repeati780 – 812TPR 8Sequence analysisAdd BLAST33
Repeati813 – 846TPR 9Sequence analysisAdd BLAST34

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4162, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000158638

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_010512_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9ULT0

KEGG Orthology (KO)

More...
KOi
K21843

Identification of Orthologs from Complete Genome Data

More...
OMAi
DDMSVEN

Database of Orthologous Groups

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OrthoDBi
167932at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9ULT0

TreeFam database of animal gene trees

More...
TreeFami
TF313783

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat
IPR026900, Ttc7A

The PANTHER Classification System

More...
PANTHERi
PTHR23083:SF475, PTHR23083:SF475, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13181, TPR_8, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00028, TPR, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48452, SSF48452, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50005, TPR, 8 hits
PS50293, TPR_REGION, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9ULT0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAAKGAHGSY LKVESELERC RAEGHWDRMP ELVRQLQTLS MPGGGGNRRG
60 70 80 90 100
SPSAAFTFPD TDDFGKLLLA EALLEQCLKE NHAKIKDSMP LLEKNEPKMS
110 120 130 140 150
EAKNYLSSIL NHGRLSPQYM CEAMLILGKL HYVEGSYRDA ISMYARAGID
160 170 180 190 200
DMSMENKPLY QMRLLSEAFV IKGLSLERLP NSIASRFRLT EREEEVITCF
210 220 230 240 250
ERASWIAQVF LQELEKTTNN STSRHLKGCH PLDYELTYFL EAALQSAYVK
260 270 280 290 300
NLKKGNIVKG MRELREVLRT VETKATQNFK VMAAKHLAGV LLHSLSEECY
310 320 330 340 350
WSPLSHPLPE FMGKEESSFA TQALRKPHLY EGDNLYCPKD NIEEALLLLL
360 370 380 390 400
ISESMATRDV VLSRVPEQEE DRTVSLQNAA AIYDLLSITL GRRGQYVMLS
410 420 430 440 450
ECLERAMKFA FGEFHLWYQV ALSMVACGKS AYAVSLLREC VKLRPSDPTV
460 470 480 490 500
PLMAAKVCIG SLRWLEEAEH FAMMVISLGE EAGEFLPKGY LALGLTYSLQ
510 520 530 540 550
ATDATLKSKQ DELHRKALQT LERAQQLAPS DPQVILYVSL QLALVRQISS
560 570 580 590 600
AMEQLQEALK VRKDDAHALH LLALLFSAQK HHQHALDVVN MAITEHPENF
610 620 630 640 650
NLMFTKVKLE QVLKGPEEAL VTCRQVLRLW QTLYSFSQLG GLEKDGSFGE
660 670 680 690 700
GLTMKKQSGM HLTLPDAHDA DSGSRRASSI AASRLEEAMS ELTMPSSVLK
710 720 730 740 750
QGPMQLWTTL EQIWLQAAEL FMEQQHLKEA GFCIQEAAGL FPTSHSVLYM
760 770 780 790 800
RGRLAEVKGN LEEAKQLYKE ALTVNPDGVR IMHSLGLMLS RLGHKSLAQK
810 820 830 840 850
VLRDAVERQS TCHEAWQGLG EVLQAQGQNE AAVDCFLTAL ELEASSPVLP

FSIIPREL
Length:858
Mass (Da):96,185
Last modified:August 22, 2003 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9D10411B48478171
GO
Isoform 2 (identifier: Q9ULT0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     117-146: PQYMCEAMLILGKLHYVEGSYRDAISMYAR → GLAVLLRLVSNSWAQAILLLQPPEALGLQE
     147-858: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:146
Mass (Da):16,049
Checksum:i86D8845D48B8E11B
GO
Isoform 3 (identifier: Q9ULT0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     639-639: L → LGDFRSPEGFQTPQRNICNSEIYRG

Show »
Length:882
Mass (Da):98,939
Checksum:i4FB2B35E2A15E5FC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G5E9G4G5E9G4_HUMAN
Tetratricopeptide repeat domain 7A,...
TTC7A hCG_17034
824Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C055H7C055_HUMAN
Tetratricopeptide repeat protein 7A
TTC7A
330Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1P2H7C1P2_HUMAN
Tetratricopeptide repeat protein 7A
TTC7A
108Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y3V7H0Y3V7_HUMAN
Tetratricopeptide repeat protein 7A
TTC7A
66Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA86454 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti603M → I in BAA86454 (PubMed:10574461).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07512671E → K in GIDID; reduced interaction with PI4KA. 1 PublicationCorresponds to variant dbSNP:rs147914967EnsemblClinVar.1
Natural variantiVAR_075127277Missing in GIDID. 1 Publication1
Natural variantiVAR_075128336Missing in GIDID. 1 Publication1
Natural variantiVAR_075129346L → P in GIDID. 1 Publication1
Natural variantiVAR_075130399L → P in GIDID. 1 Publication1
Natural variantiVAR_075131526Missing in GIDID. 1 Publication1
Natural variantiVAR_016602538V → L1 PublicationCorresponds to variant dbSNP:rs2304290Ensembl.1
Natural variantiVAR_075132539S → L in GIDID. 1 PublicationCorresponds to variant dbSNP:rs776906926EnsemblClinVar.1
Natural variantiVAR_052624545V → I. Corresponds to variant dbSNP:rs6755258EnsemblClinVar.1
Natural variantiVAR_075133551A → D in GIDID. 1 Publication1
Natural variantiVAR_075134606K → R in GIDID; compound heterozygous with P-672. 1 PublicationCorresponds to variant dbSNP:rs139010200EnsemblClinVar.1
Natural variantiVAR_075135672S → P in GIDID; compound heterozygous with R-606. 1 PublicationCorresponds to variant dbSNP:rs149602485EnsemblClinVar.1
Natural variantiVAR_075136678Missing in GIDID. 1 Publication1
Natural variantiVAR_075137712Missing in GIDID. 1 Publication1
Natural variantiVAR_069636823L → P in GIDID. 2 PublicationsCorresponds to variant dbSNP:rs587776972EnsemblClinVar.1
Natural variantiVAR_075138828Missing in GIDID. 1 Publication1
Natural variantiVAR_075139832A → T in GIDID; reduced interaction with PI4KA. 1 PublicationCorresponds to variant dbSNP:rs876657393EnsemblClinVar.1
Natural variantiVAR_075140832Missing in GIDID. 1 Publication1
Natural variantiVAR_075141857Missing in GIDID. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_039347117 – 146PQYMC…SMYAR → GLAVLLRLVSNSWAQAILLL QPPEALGLQE in isoform 2. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_039348147 – 858Missing in isoform 2. 1 PublicationAdd BLAST712
Alternative sequenceiVSP_057271639L → LGDFRSPEGFQTPQRNICNS EIYRG in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AL834383 mRNA Translation: CAD39046.2
AB032966 mRNA Translation: BAA86454.2 Sequence problems.
AC016722 Genomic DNA No translation available.
AC073283 Genomic DNA No translation available.
AC093732 Genomic DNA No translation available.
BC001978 mRNA Translation: AAH01978.1
BC027457 mRNA Translation: AAH27457.1
BC111487 mRNA Translation: AAI11488.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS33193.1 [Q9ULT0-1]
CCDS74511.1 [Q9ULT0-4]

NCBI Reference Sequences

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RefSeqi
NP_001275880.1, NM_001288951.1 [Q9ULT0-4]
NP_001275882.1, NM_001288953.1
NP_001275884.1, NM_001288955.1
NP_065191.2, NM_020458.3 [Q9ULT0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000319190; ENSP00000316699; ENSG00000068724 [Q9ULT0-1]
ENST00000394850; ENSP00000378320; ENSG00000068724 [Q9ULT0-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57217

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57217

UCSC genome browser

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UCSCi
uc002rvo.4, human [Q9ULT0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL834383 mRNA Translation: CAD39046.2
AB032966 mRNA Translation: BAA86454.2 Sequence problems.
AC016722 Genomic DNA No translation available.
AC073283 Genomic DNA No translation available.
AC093732 Genomic DNA No translation available.
BC001978 mRNA Translation: AAH01978.1
BC027457 mRNA Translation: AAH27457.1
BC111487 mRNA Translation: AAI11488.1
CCDSiCCDS33193.1 [Q9ULT0-1]
CCDS74511.1 [Q9ULT0-4]
RefSeqiNP_001275880.1, NM_001288951.1 [Q9ULT0-4]
NP_001275882.1, NM_001288953.1
NP_001275884.1, NM_001288955.1
NP_065191.2, NM_020458.3 [Q9ULT0-1]

3D structure databases

SMRiQ9ULT0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121455, 9 interactors
IntActiQ9ULT0, 7 interactors
STRINGi9606.ENSP00000378320

PTM databases

GlyGeniQ9ULT0, 1 site
iPTMnetiQ9ULT0
PhosphoSitePlusiQ9ULT0

Polymorphism and mutation databases

BioMutaiTTC7A
DMDMi34223742

Proteomic databases

EPDiQ9ULT0
jPOSTiQ9ULT0
MassIVEiQ9ULT0
PaxDbiQ9ULT0
PeptideAtlasiQ9ULT0
PRIDEiQ9ULT0
ProteomicsDBi61446
85104 [Q9ULT0-1]
85105 [Q9ULT0-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
47406, 92 antibodies

Genome annotation databases

EnsembliENST00000319190; ENSP00000316699; ENSG00000068724 [Q9ULT0-1]
ENST00000394850; ENSP00000378320; ENSG00000068724 [Q9ULT0-4]
GeneIDi57217
KEGGihsa:57217
UCSCiuc002rvo.4, human [Q9ULT0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57217
DisGeNETi57217
EuPathDBiHostDB:ENSG00000068724.15

GeneCards: human genes, protein and diseases

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GeneCardsi
TTC7A
HGNCiHGNC:19750, TTC7A
HPAiENSG00000068724, Tissue enhanced (lymphoid)
MalaCardsiTTC7A
MIMi243150, phenotype
609332, gene
neXtProtiNX_Q9ULT0
OpenTargetsiENSG00000068724
Orphaneti436252, Combined immunodeficiency-enteropathy spectrum
2300, Multiple intestinal atresia
PharmGKBiPA134993362

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4162, Eukaryota
GeneTreeiENSGT00940000158638
HOGENOMiCLU_010512_1_0_1
InParanoidiQ9ULT0
KOiK21843
OMAiDDMSVEN
OrthoDBi167932at2759
PhylomeDBiQ9ULT0
TreeFamiTF313783

Enzyme and pathway databases

PathwayCommonsiQ9ULT0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
57217, 63 hits in 874 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TTC7A, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
57217
PharosiQ9ULT0, Tbio

Protein Ontology

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PROi
PR:Q9ULT0
RNActiQ9ULT0, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000068724, Expressed in testis and 200 other tissues
ExpressionAtlasiQ9ULT0, baseline and differential
GenevisibleiQ9ULT0, HS

Family and domain databases

Gene3Di1.25.40.10, 2 hits
InterProiView protein in InterPro
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat
IPR026900, Ttc7A
PANTHERiPTHR23083:SF475, PTHR23083:SF475, 1 hit
PfamiView protein in Pfam
PF13181, TPR_8, 2 hits
SMARTiView protein in SMART
SM00028, TPR, 7 hits
SUPFAMiSSF48452, SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS50005, TPR, 8 hits
PS50293, TPR_REGION, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTTC7A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9ULT0
Secondary accession number(s): Q2T9J9
, Q6PIX4, Q8ND67, Q9BUS3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: August 22, 2003
Last modified: August 12, 2020
This is version 178 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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