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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...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711E → K in GIDID; reduced interaction with PI4KA. 1 Publication
VAR_075126
Natural varianti277 – 2771Missing in GIDID. 1 Publication
VAR_075127
Natural varianti336 – 3361Missing in GIDID. 1 Publication
VAR_075128
Natural varianti346 – 3461L → P in GIDID. 1 Publication
VAR_075129
Natural varianti399 – 3991L → P in GIDID. 1 Publication
VAR_075130
Natural varianti526 – 5261Missing in GIDID. 1 Publication
VAR_075131
Natural varianti539 – 5391S → L in GIDID. 1 Publication
VAR_075132
Natural varianti551 – 5511A → D in GIDID. 1 Publication
VAR_075133
Natural varianti606 – 6061K → R in GIDID; compound heterozygous with P-672. 1 Publication
VAR_075134
Natural varianti672 – 6721S → P in GIDID; compound heterozygous with R-606. 1 Publication
VAR_075135
Natural varianti678 – 6781Missing in GIDID. 1 Publication
VAR_075136
Natural varianti712 – 7121Missing in GIDID. 1 Publication
VAR_075137
Natural varianti823 – 8231L → P in GIDID. 2 Publications
VAR_069636
Natural varianti828 – 8281Missing in GIDID. 1 Publication
VAR_075138
Natural varianti832 – 8321A → T in GIDID; reduced interaction with PI4KA. 1 Publication
VAR_075139
Natural varianti832 – 8321Missing in GIDID. 1 Publication
VAR_075140
Natural varianti857 – 8571Missing in GIDID. 1 Publication
VAR_075141

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiTTC7A.
MIMi243150. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 858858Tetratricopeptide repeat protein 7APRO_0000106385Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei51 – 511PhosphoserineCombined sources
Modified residuei182 – 1821PhosphoserineCombined sources
Modified residuei647 – 6471PhosphoserineCombined sources
Modified residuei678 – 6781PhosphoserineBy similarity
Modified residuei679 – 6791PhosphoserineBy similarity
Modified residuei690 – 6901PhosphoserineBy similarity
Modified residuei693 – 6931PhosphothreonineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9ULT0.
MaxQBiQ9ULT0.
PaxDbiQ9ULT0.
PRIDEiQ9ULT0.

PTM databases

iPTMnetiQ9ULT0.
PhosphoSiteiQ9ULT0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9ULT0.
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 interactions.
IntActiQ9ULT0. 6 interactions.
STRINGi9606.ENSP00000316699.

Structurei

3D structure databases

ProteinModelPortaliQ9ULT0.
SMRiQ9ULT0. Positions 98-147, 382-632, 712-846.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati121 – 15737TPR 1Sequence analysisAdd
BLAST
Repeati177 – 21034TPR 2Sequence analysisAdd
BLAST
Repeati414 – 44734TPR 3Sequence analysisAdd
BLAST
Repeati497 – 53135TPR 4Sequence analysisAdd
BLAST
Repeati533 – 56533TPR 5Sequence analysisAdd
BLAST
Repeati566 – 59934TPR 6Sequence analysisAdd
BLAST
Repeati745 – 77834TPR 7Sequence analysisAdd
BLAST
Repeati780 – 81233TPR 8Sequence analysisAdd
BLAST
Repeati813 – 84634TPR 9Sequence analysisAdd
BLAST

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.
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 BAA86454.2 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti603 – 6031M → I in BAA86454 (PubMed:10574461).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711E → K in GIDID; reduced interaction with PI4KA. 1 Publication
VAR_075126
Natural varianti277 – 2771Missing in GIDID. 1 Publication
VAR_075127
Natural varianti336 – 3361Missing in GIDID. 1 Publication
VAR_075128
Natural varianti346 – 3461L → P in GIDID. 1 Publication
VAR_075129
Natural varianti399 – 3991L → P in GIDID. 1 Publication
VAR_075130
Natural varianti526 – 5261Missing in GIDID. 1 Publication
VAR_075131
Natural varianti538 – 5381V → L.1 Publication
Corresponds to variant rs2304290 [ dbSNP | Ensembl ].
VAR_016602
Natural varianti539 – 5391S → L in GIDID. 1 Publication
VAR_075132
Natural varianti545 – 5451V → I.
Corresponds to variant rs6755258 [ dbSNP | Ensembl ].
VAR_052624
Natural varianti551 – 5511A → D in GIDID. 1 Publication
VAR_075133
Natural varianti606 – 6061K → R in GIDID; compound heterozygous with P-672. 1 Publication
VAR_075134
Natural varianti672 – 6721S → P in GIDID; compound heterozygous with R-606. 1 Publication
VAR_075135
Natural varianti678 – 6781Missing in GIDID. 1 Publication
VAR_075136
Natural varianti712 – 7121Missing in GIDID. 1 Publication
VAR_075137
Natural varianti823 – 8231L → P in GIDID. 2 Publications
VAR_069636
Natural varianti828 – 8281Missing in GIDID. 1 Publication
VAR_075138
Natural varianti832 – 8321A → T in GIDID; reduced interaction with PI4KA. 1 Publication
VAR_075139
Natural varianti832 – 8321Missing in GIDID. 1 Publication
VAR_075140
Natural varianti857 – 8571Missing in GIDID. 1 Publication
VAR_075141

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei117 – 14630PQYMC…SMYAR → GLAVLLRLVSNSWAQAILLL QPPEALGLQE in isoform 2. 1 PublicationVSP_039347Add
BLAST
Alternative sequencei147 – 858712Missing in isoform 2. 1 PublicationVSP_039348Add
BLAST
Alternative sequencei639 – 6391L → LGDFRSPEGFQTPQRNICNS EIYRG in isoform 3. 1 PublicationVSP_057271

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. Positions 98-147, 382-632, 712-846.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121455. 4 interactions.
IntActiQ9ULT0. 6 interactions.
STRINGi9606.ENSP00000316699.

PTM databases

iPTMnetiQ9ULT0.
PhosphoSiteiQ9ULT0.

Polymorphism and mutation databases

BioMutaiTTC7A.
DMDMi34223742.

Proteomic databases

EPDiQ9ULT0.
MaxQBiQ9ULT0.
PaxDbiQ9ULT0.
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.
GeneCardsiTTC7A.
H-InvDBHIX0002038.
HGNCiHGNC:19750. TTC7A.
HPAiHPA036781.
HPA036782.
MalaCardsiTTC7A.
MIMi243150. phenotype.
609332. gene.
neXtProtiNX_Q9ULT0.
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.
PhylomeDBiQ9ULT0.
TreeFamiTF313783.

Miscellaneous databases

GenomeRNAii57217.
NextBioi63341.
PROiQ9ULT0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9ULT0.
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...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-538.
    Tissue: Testis.
  2. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
    Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
    DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 82-858 (ISOFORM 2).
    Tissue: Brain.
  3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 409-858 (ISOFORM 1).
    Tissue: Cervix and Testis.
  6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-51 AND SER-182, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-51, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-51 AND SER-647, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "PtdIns4P synthesis by PI4KIIIalpha at the plasma membrane and its impact on plasma membrane identity."
    Nakatsu F., Baskin J.M., Chung J., Tanner L.B., Shui G., Lee S.Y., Pirruccello M., Hao M., Ingolia N.T., Wenk M.R., De Camilli P.
    J. Cell Biol. 199:1003-1016(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  12. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-647 AND THR-693, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  13. "Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort."
    Fernandez I., Patey N., Marchand V., Birlea M., Maranda B., Haddad E., Decaluwe H., Le Deist F.
    Medicine (Baltimore) 93:E327-E327(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN GIDID, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  14. Cited for: VARIANTS GIDID PRO-399; ARG-606; PRO-672; SER-678 DEL; GLN-712 DEL AND PRO-823.
  15. Cited for: VARIANT GIDID PRO-823.
  16. Cited for: VARIANTS GIDID LYS-71; GLN-526 DEL AND THR-832, CHARACTERIZATION OF VARIANTS GIDID LYS-71 AND THR-832, FUNCTION, INTERACTION WITH PI4KA.
  17. "Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency."
    Agarwal N.S., Northrop L., Anyane-Yeboa K., Aggarwal V.S., Nagy P.L., Demirdag Y.Y.
    J. Clin. Immunol. 34:607-610(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GIDID ASP-551 AND GLN-828 DEL.
  18. Cited for: VARIANTS GIDID GLN-277 DEL; TYR-336 DEL; LEU-539 AND ALA-832 DEL.
  19. "Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects."
    Woutsas S., Aytekin C., Salzer E., Conde C.D., Apaydin S., Pichler H., Memaran-Dadgar N., Hosnut F.O., Foerster-Waldl E., Matthes S., Huber W.D., Lion T., Holter W., Bilic I., Boztug K.
    Blood 125:1674-1676(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GIDID PRO-346.
  20. "Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency."
    Yang W., Lee P.P., Thong M.K., Ramanujam T.M., Shanmugam A., Koh M.T., Chan K.W., Ying D., Wang Y., Shen J.J., Yang J., Lau Y.L.
    Clin. Genet. 88:542-549(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GIDID GLU-857 DEL.

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: May 11, 2016
This is version 145 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.