Property Summary

NCBI Gene PubMed Count 9
Grant Count 238
R01 Count 132
Funding $64,689,013.85
PubMed Score 184.51
PubTator Score 14.83

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
interstitial lung disease -1.100 0.031
astrocytic glioma 1.400 0.024
ependymoma 1.300 0.006
oligodendroglioma 1.400 0.019
psoriasis 1.300 0.001
osteosarcoma 2.861 0.001
group 4 medulloblastoma 1.600 0.001
medulloblastoma, large-cell 1.900 0.001
Amyotrophic Lateral Sclerosis 1.018 0.000
acute quadriplegic myopathy 1.064 0.002
adrenocortical carcinoma 1.369 0.000
ovarian cancer -2.200 0.000

Synonym

Accession Q6PGP7 O15077 Q6PJI3 TPR repeat protein 37
Symbols Ski3
THES
KIAA0372

Gene

Gene RIF (4)

PMID Text
26945392 A PubMed search for bi-allelic TTC37 mutations and phenotypes were recorded in 14 Asian and 12 non-Asian cases
25976726 This is a report of novel mutations in TTC37 in individuals of East Asian descent. * Whole exome sequencing (WES) can be useful in certain complex cases with diagnostic dilemmas.
21120949 TTC37 is widely expressed, with high levels in vascular tissues, lymph node, pituitary, lung, and intestine. In contrast, TTC37 is not expressed in the liver, an organ that is not consistently affected in tricho-hepato-enteric syndrome
20176027 Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

AA Sequence

MSSKEVKTALKSARDAIRNKEYKEALKHCKTVLKQEKNNYNAWVFIGVAAAELEQPDQAQSAYKKAAELE      1 - 70
PDQLLAWQGLANLYEKYNHINAKDDLPGVYQKLLDLYESVDKQKWCDVCKKLVDLYYQEKKHLEVARTWH     71 - 140
KLIKTRQEQGAENEELHQLWRKLTQFLAESTEDQNNETQQLLFTAFENALGLSDKIPSEDHQVLYRHFIQ    141 - 210
SLSKFPHESARLKKACEGMINIYPTVQYPLEVLCLHLIESGNLTDEGQQYCCRLVEMDSKSGPGLIGLGI    211 - 280
KALQDKKYEDAVRNLTEGLKESPVCTSGWYHLAEAQVKMHRPKEAVLSCSQALKIVDNLGASGNSLYQRN    281 - 350
LCLHLKAEALIKLSDYDSSEEAIRTLDQISDADNIPGLLVLKSLAYRNKGSFDEAAKIMEDLLSSYPDLA    351 - 420
EVHALEALIHFTKKDYLQAEKCFQRALEKDTEVAEYHYQLGLTYWFMGEETRKDKTKALTHFLKAARLDT    421 - 490
YMGKVFCYLGHYYRDVVGDKNRARGCYRKAFELDDTDAESGAAAVDLSVELEDMEMALAILTTVTQKASA    491 - 560
GTAKWAWLRRGLYYLKAGQHSQAVADLQAALRADPKDFNCWESLGEAYLSRGGYTTALKSFTKASELNPE    561 - 630
SIYSVFKVAAIQQILGKYKEAVAQYQMIIKKKEDYVPALKGLGECHLMMAKAALVDYLDGKAVDYIEKAL    631 - 700
EYFTCALQHRADVSCLWKLAGDACTCLYAVAPSKVNVHVLGVLLGQKEGKQVLKKNELLHLGGRCYGRAL    701 - 770
KLMSTSNTWCDLGINYYRQAQHLAETGSNMNDLKELLEKSLHCLKKAVRLDSNNHLYWNALGVVACYSGI    771 - 840
GNYALAQHCFIKSIQSEQINAVAWTNLGVLYLTNENIEQAHEAFKMAQSLDPSYLMCWIGQALIAEAVGS    841 - 910
YDTMDLFRHTTELNMHTEGALGYAYWVCTTLQDKSNRETELYQYNILQMNAIPAAQVILNKYVERIQNYA    911 - 980
PAFTMLGYLNEHLQLKKEAANAYQRAILLLQTAEDQDTYNVAIRNYGRLLCSTGEYDKAIQAFKSTPLEV    981 - 1050
LEDIIGFALALFMKGLYKESSKAYERALSIVESEQDKAHILTALAITEYKQGKTDVAKTLLFKCSILKEP   1051 - 1120
TTESLQALCALGLAMQDATLSKAALNELLKHIKHKDSNYQRCLLTSAIYALQGRSVAVQKQISKAVHSNP   1121 - 1190
GDPALWSLLSRVVAQYAQRNAKGGVVAGNVAHILDSNHGKKALLYTAVNQLAMGSSSAEDEKNTALKTIQ   1191 - 1260
KAALLSPGDPAIWAGLMAACHADDKLALVNNTQPKRIDLYLALLSAVSASIKDEKFFENYNQSLEKWSLS   1261 - 1330
QAVTGLIDTGRISEAETLCTKNLKSNPDQPAVILLLRQVQCKPLLESQKPLPDAVLEELQKTVMSNSTSV   1331 - 1400
PAWQWLAHVYQSQGMMRAAEMCYRKSLQLASQRGSWSGKLSSLLRLALLALKVCMANISNDHWPSLVQEA   1401 - 1470
TTEALKLCFCPLAVLLQALLQFKRKMGARETRRLLERVVYQPGYPKSIASTARWYLLRHLYAKDDYELID   1471 - 1540
VLVNNAKTHGDTRALELNQRLSSQ                                                 1541 - 1564
//

Text Mined References (12)

PMID Year Title
26945392 2016 Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.
25976726 2015 Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21269460 2011 Initial characterization of the human central proteome.
21120949 2011 Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.
20176027 2010 Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
16024656 2005 The human PAF complex coordinates transcription with events downstream of RNA synthesis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
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