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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-Experimental evidence at protein leveli

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

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000068724-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 7ACurated
Short name:
TPR repeat protein 7ACurated
Gene namesi
Name:TTC7AImported
Synonyms:KIAA11401 Publication, TTC7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:19750. TTC7A.

Subcellular locationi

  • Cytoplasm 1 Publication
  • Cell membrane By similarity

  • Note: Localizes to the cytosol and is recruited to the plasma membrane following interaction with EFR3 (EFR3A or EFR3B).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

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.
See also OMIM:243150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07512671E → K in GIDID; reduced interaction with PI4KA. 1 PublicationCorresponds to variant rs147914967dbSNPEnsembl.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 rs776906926dbSNPEnsembl.1
Natural variantiVAR_075133551A → D in GIDID. 1 Publication1
Natural variantiVAR_075134606K → R in GIDID; compound heterozygous with P-672. 1 PublicationCorresponds to variant rs139010200dbSNPEnsembl.1
Natural variantiVAR_075135672S → P in GIDID; compound heterozygous with R-606. 1 PublicationCorresponds to variant rs149602485dbSNPEnsembl.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 rs587776972dbSNPEnsembl.1
Natural variantiVAR_075138828Missing in GIDID. 1 Publication1
Natural variantiVAR_075139832A → T in GIDID; reduced interaction with PI4KA. 1 Publication1
Natural variantiVAR_075140832Missing in GIDID. 1 Publication1
Natural variantiVAR_075141857Missing in GIDID. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi57217.
MalaCardsiTTC7A.
MIMi243150. phenotype.
OpenTargetsiENSG00000068724.
Orphaneti238569. Autosomal recessive early-onset inflammatory bowel disease.
2300. Multiple intestinal atresia.
PharmGKBiPA134993362.

Polymorphism and mutation databases

BioMutaiTTC7A.
DMDMi34223742.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001063851 – 858Tetratricopeptide repeat protein 7AAdd BLAST858

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

PaxDbiQ9ULT0.
PeptideAtlasiQ9ULT0.
PRIDEiQ9ULT0.

PTM databases

iPTMnetiQ9ULT0.
PhosphoSitePlusiQ9ULT0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000068724.
CleanExiHS_TTC7A.
ExpressionAtlasiQ9ULT0. baseline and differential.
GenevisibleiQ9ULT0. HS.

Organism-specific databases

HPAiHPA036781.
HPA036782.

Interactioni

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

BioGridi121455. 4 interactors.
IntActiQ9ULT0. 6 interactors.
STRINGi9606.ENSP00000316699.

Structurei

3D structure databases

ProteinModelPortaliQ9ULT0.
SMRiQ9ULT0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Sequence similaritiesi

Contains 9 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG4162. Eukaryota.
ENOG410XQ09. LUCA.
GeneTreeiENSGT00390000014400.
HOGENOMiHOG000045494.
HOVERGENiHBG059763.
InParanoidiQ9ULT0.
OMAiGDNLYCP.
OrthoDBiEOG091G07XU.
PhylomeDBiQ9ULT0.
TreeFamiTF313783.

Family and domain databases

Gene3Di1.25.40.10. 4 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
IPR026900. Ttc7A.
[Graphical view]
PANTHERiPTHR23083:SF376. PTHR23083:SF376. 2 hits.
PfamiPF13181. TPR_8. 2 hits.
[Graphical view]
SMARTiSM00028. TPR. 7 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 3 hits.
PROSITEiPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 3 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
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

Note: No experimental confirmation available.
Show »
Length:882
Mass (Da):98,939
Checksum:i4FB2B35E2A15E5FC
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs147914967dbSNPEnsembl.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 → L.1 PublicationCorresponds to variant rs2304290dbSNPEnsembl.1
Natural variantiVAR_075132539S → L in GIDID. 1 PublicationCorresponds to variant rs776906926dbSNPEnsembl.1
Natural variantiVAR_052624545V → I.Corresponds to variant rs6755258dbSNPEnsembl.1
Natural variantiVAR_075133551A → D in GIDID. 1 Publication1
Natural variantiVAR_075134606K → R in GIDID; compound heterozygous with P-672. 1 PublicationCorresponds to variant rs139010200dbSNPEnsembl.1
Natural variantiVAR_075135672S → P in GIDID; compound heterozygous with R-606. 1 PublicationCorresponds to variant rs149602485dbSNPEnsembl.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 rs587776972dbSNPEnsembl.1
Natural variantiVAR_075138828Missing in GIDID. 1 Publication1
Natural variantiVAR_075139832A → T in GIDID; reduced interaction with PI4KA. 1 Publication1
Natural variantiVAR_075140832Missing in GIDID. 1 Publication1
Natural variantiVAR_075141857Missing in GIDID. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.370603.
Hs.736871.
Hs.738494.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.370603.
Hs.736871.
Hs.738494.

3D structure databases

ProteinModelPortaliQ9ULT0.
SMRiQ9ULT0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121455. 4 interactors.
IntActiQ9ULT0. 6 interactors.
STRINGi9606.ENSP00000316699.

PTM databases

iPTMnetiQ9ULT0.
PhosphoSitePlusiQ9ULT0.

Polymorphism and mutation databases

BioMutaiTTC7A.
DMDMi34223742.

Proteomic databases

PaxDbiQ9ULT0.
PeptideAtlasiQ9ULT0.
PRIDEiQ9ULT0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi57217.
DisGeNETi57217.
GeneCardsiTTC7A.
H-InvDBHIX0002038.
HGNCiHGNC:19750. TTC7A.
HPAiHPA036781.
HPA036782.
MalaCardsiTTC7A.
MIMi243150. phenotype.
609332. gene.
neXtProtiNX_Q9ULT0.
OpenTargetsiENSG00000068724.
Orphaneti238569. Autosomal recessive early-onset inflammatory bowel disease.
2300. Multiple intestinal atresia.
PharmGKBiPA134993362.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4162. Eukaryota.
ENOG410XQ09. LUCA.
GeneTreeiENSGT00390000014400.
HOGENOMiHOG000045494.
HOVERGENiHBG059763.
InParanoidiQ9ULT0.
OMAiGDNLYCP.
OrthoDBiEOG091G07XU.
PhylomeDBiQ9ULT0.
TreeFamiTF313783.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000068724-MONOMER.

Miscellaneous databases

GenomeRNAii57217.
PROiQ9ULT0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000068724.
CleanExiHS_TTC7A.
ExpressionAtlasiQ9ULT0. baseline and differential.
GenevisibleiQ9ULT0. HS.

Family and domain databases

Gene3Di1.25.40.10. 4 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
IPR026900. Ttc7A.
[Graphical view]
PANTHERiPTHR23083:SF376. PTHR23083:SF376. 2 hits.
PfamiPF13181. TPR_8. 2 hits.
[Graphical view]
SMARTiSM00028. TPR. 7 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 3 hits.
PROSITEiPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTTC7A_HUMAN
AccessioniPrimary (citable) accession number: Q9ULT0
Secondary accession number(s): Q2T9J9
, Q6PIX4, Q8ND67, Q9BUS3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: August 22, 2003
Last modified: November 2, 2016
This is version 150 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.