Details for: TTC7A
Associated with
Other Information
Genular Protein ID: 4027935379
Symbol: TTC7A_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 10574461
Title: Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
PubMed ID: 10574461
PubMed ID: 12168954
Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
PubMed ID: 12168954
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17081983
Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
PubMed ID: 17081983
PubMed ID: 18691976
Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
PubMed ID: 18691976
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 23229899
Title: PtdIns4P synthesis by PI4KIIIalpha at the plasma membrane and its impact on plasma membrane identity.
PubMed ID: 23229899
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25546680
Title: Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.
PubMed ID: 25546680
PubMed ID: 34415310
Title: Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
PubMed ID: 34415310
PubMed ID: 23830146
Title: Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
PubMed ID: 23830146
PubMed ID: 23423984
Title: Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
PubMed ID: 23423984
PubMed ID: 24417819
Title: Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
PubMed ID: 24417819
PubMed ID: 24931897
Title: Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.
PubMed ID: 24931897
PubMed ID: 24292712
Title: TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
PubMed ID: 24292712
DOI: 10.1172/jci71471
PubMed ID: 25745186
Title: Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
PubMed ID: 25745186
PubMed ID: 25534311
Title: Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
PubMed ID: 25534311
DOI: 10.1111/cge.12553
Sequence Information:
- Length: 858
- Mass: 96185
- Checksum: 9D10411B48478171
- Sequence:
MAAKGAHGSY LKVESELERC RAEGHWDRMP ELVRQLQTLS MPGGGGNRRG SPSAAFTFPD TDDFGKLLLA EALLEQCLKE NHAKIKDSMP LLEKNEPKMS EAKNYLSSIL NHGRLSPQYM CEAMLILGKL HYVEGSYRDA ISMYARAGID DMSMENKPLY QMRLLSEAFV IKGLSLERLP NSIASRFRLT EREEEVITCF ERASWIAQVF LQELEKTTNN STSRHLKGCH PLDYELTYFL EAALQSAYVK NLKKGNIVKG MRELREVLRT VETKATQNFK VMAAKHLAGV LLHSLSEECY WSPLSHPLPE FMGKEESSFA TQALRKPHLY EGDNLYCPKD NIEEALLLLL ISESMATRDV VLSRVPEQEE DRTVSLQNAA AIYDLLSITL GRRGQYVMLS ECLERAMKFA FGEFHLWYQV ALSMVACGKS AYAVSLLREC VKLRPSDPTV PLMAAKVCIG SLRWLEEAEH FAMMVISLGE EAGEFLPKGY LALGLTYSLQ ATDATLKSKQ DELHRKALQT LERAQQLAPS DPQVILYVSL QLALVRQISS AMEQLQEALK VRKDDAHALH LLALLFSAQK HHQHALDVVN MAITEHPENF NLMFTKVKLE QVLKGPEEAL VTCRQVLRLW QTLYSFSQLG GLEKDGSFGE GLTMKKQSGM HLTLPDAHDA DSGSRRASSI AASRLEEAMS ELTMPSSVLK QGPMQLWTTL EQIWLQAAEL FMEQQHLKEA GFCIQEAAGL FPTSHSVLYM RGRLAEVKGN LEEAKQLYKE ALTVNPDGVR IMHSLGLMLS RLGHKSLAQK VLRDAVERQS TCHEAWQGLG EVLQAQGQNE AAVDCFLTAL ELEASSPVLP FSIIPREL
Genular Protein ID: 1763361524
Symbol: I6L9J2_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 504
- Mass: 55992
- Checksum: 305C2BA5669DFBB2
- Sequence:
MATRDVVLSR VPEQEEDRTV SLQNAAAIYD LLSITLGRRG QYVMLSECLE RAMKFAFGEF HLWYQVALSM VACGKSAYAV SLLRECVKLR PSDPTVPLMA AKVCIGSLRW LEEAEHFAMM VISLGEEAGE FLPKGYLALG LTYSLQATDA TLKSKQDELH RKALQTLERA QQLAPSDPQV ILYVSLQLAL VRQISSAMEQ LQEALKVRKD DAHALHLLAL LFSAQKHHQH ALDVVNMAIT EHPGNFNLMF TKVKLEQVLK GPEEALVTCR QVLRLWQTLY SFSQLGGLEK DGSFGEGLTM KKQSGMHLTL PDAHDADSGS RRASSIAASR LEEAMSELTM PSSVLKQGPM QLWTTLEQIW LQAAELFMEQ QHLKEAGFCI QEAAGLFPTS HSVLYMRGRL AEVKGNLEEA KQLYKEALTV NPDGVRIMHS LGLMLSRLGH KSLAQKVLRD AVERQSTCHE AWQGLGEVLQ AQGQNEAAVD CFLTALELEA SSPVLPFSII PREL
Genular Protein ID: 2902825244
Symbol: B3KPK7_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
Sequence Information:
- Length: 824
- Mass: 92654
- Checksum: 94DAC75126DACE02
- Sequence:
MVPSSSRTPG FKQSSHHLRL PKCWDYRDDF GKLLLAEALL EQCLKENHAK INDSMPLLEK NEPKMSEAKN YLSSILNHGR LSPQYMCEAM LILGKLHYVE GSYRDAISMY ARAGIDDMSM ENKPLYQMRL LSEAFVIKGL SLERLPNSIA SRFRLTEREE EVITCFERAS WIAQVFLQEL EKTTNNSTSR HLKGCHPLDY ELTYFLEAAL QSAYVKNLKK GNIVKGMREL REVLRTVETK ATQNFKVMAA KHLAGVLLHS LSEECYWSPL SHPLPEFMGK EESSFATQAL RKPHLYEGDN LYCPKDNIEE ALLLLLISES MATRDVVLSR VPEQEEDRTV SLQNAAAIYD LLSITLGRRG QYVMLSECLE RAMKFAFGEF HLWYQVALSM VACGKSAYAV SLLRECVKLR PSDPTVPLMA AKVCIGSLRW LEEAEHFAMM VISLGEEAGE FLPKGYLALG LTYSLQATDA TLKSKQDELH RKALQTLERA QQLAPSDPQV ILYVSLQLAL VRQISSAMEQ LQEALKVRKD DAHALHLLAL LFSAQKHHQH ALDVVNMAIT EHPENFNLMF TKVKLEQVLK GPEEALVTCR QVLRLWQTLY SFSQLGGLEK DGSFGEGLTM KKQSGMHLTL PDAHDADSGS RRASSIAASR LEEAMSELTM PSSVLKQGPM QLWTTLGQIW LQAAELFMEQ QHLKEAGFCI QEAAGLFPTS HSVLYMRGRL AEVKGNLEEA KQLYKEALTV NPDGVRIMHS LGLMLSRLGH KSLAQKVLRD AVERQSTCHE AWQGLGEVLQ AQGQNEAAVD CFLTALELEA SSPVLPFSII PREL
Genular Protein ID: 1628415614
Symbol: G5E9G4_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11181995
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
Sequence Information:
- Length: 824
- Mass: 92740
- Checksum: 610374DF00425F0E
- Sequence:
MVPSSSRTPG FKQSSHHLRL PKCWDYRDDF GKLLLAEALL EQCLKENHAK IKDSMPLLEK NEPKMSEAKN YLSSILNHGR LSPQYMCEAM LILGKLHYVE GSYRDAISMY ARAGIDDMSM ENKPLYQMRL LSEAFVIKGL SLERLPNSIA SRFRLTEREE EVITCFERAS WIAQVFLQEL EKTTNNSTSR HLKGCHPLDY ELTYFLEAAL QSAYVKNLKK GNIVKGMREL REVLRTVETK ATQNFKVMAA KHLAGVLLHS LSEECYWSPL SHPLPEFMGK EESSFATQAL RKPHLYEGDN LYCPKDNIEE ALLLLLISES MATRDVVLSR VPEQEEDRTV SLQNAAAIYD LLSITLGRRG QYVMLSECLE RAMKFAFGEF HLWYQVALSM VACGKSAYAV SLLRECVKLR PSDPTVPLMA AKVCIGSLRW LEEAEHFAMM VISLGEEAGE FLPKGYLALG LTYSLQATDA TLKSKQDELH RKALQTLERA QQLAPSDPQV ILYVSLQLAL VRQISSAMEQ LQEALKVRKD DAHALHLLAL LFSAQKHHQH ALDVVNMAIT EHPENFNLMF TKVKLEQVLK GPEEALVTCR QVLRLWQTLY SFSQLGGLEK DGSFGEGLTM KKQSGMHLTL PDAHDADSGS RRASSIAASR LEEAMSELTM PSSVLKQGPM QLWTTLEQIW LQAAELFMEQ QHLKEAGFCI QEAAGLFPTS HSVLYMRGRL AEVKGNLEEA KQLYKEALTV NPDGVRIMHS LGLMLSRLGH KSLAQKVLRD AVERQSTCHE AWQGLGEVLQ AQGQNEAAVD CFLTALELEA SSPVLPFSII PREL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.