Property Summary

NCBI Gene PubMed Count 12
Grant Count 637
R01 Count 393
Funding $88,728,867.06
PubMed Score 467.05
PubTator Score 29.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma 1.600 0.000
lung cancer 1.200 0.029
group 3 medulloblastoma -1.300 0.002
psoriasis -1.300 0.000

Synonym

Accession Q07283 Q5VUI3
Symbols THH
THL
TRHY

Gene

Gene RIF (6)

PMID Text
20722389 Data suggest that an immune response to trichohyalin and K16 may have a role in the pathogenesis of the enigmatic disorder.
20585627 Observational study of gene-disease association. (HuGE Navigator)
19896111 Common variants in the TCHH gene are associated with straight hair in Europeans.
19896111 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18643848 BMP-4 signalling activates AHF transcription in hair follicles.
18643848 In human keratinocytes, we found BMP-4 facilitates trichohyalin (THH) transcription, and lamin C plays a key role in the posttranslational stabilization of THH.

AA Sequence

MSPLLRSICDITEIFNQYVSHDCDGAALTKKDLKNLLEREFGAVLRRPHDPKTVDLILELLDLDSNGRVD      1 - 70
FNEFLLFIFKVAQACYYALGQATGLDEEKRARCDGKESLLQDRRQEEDQRRFEPRDRQLEEEPGQRRRQK     71 - 140
RQEQERELAEGEEQSEKQERLEQRDRQRRDEELWRQRQEWQEREERRAEEEQLQSCKGHETEEFPDEEQL    141 - 210
RRRELLELRRKGREEKQQQRRERQDRVFQEEEEKEWRKRETVLRKEEEKLQEEEPQRQRELQEEEEQLRK    211 - 280
LERQELRRERQEEEQQQQRLRREQQLRRKQEEERREQQEERREQQERREQQEERREQQLRREQEERREQQ    281 - 350
LRREQEEERREQQLRREQEEERREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLR    351 - 420
REQQLRREQEEERHEQKHEQERREQRLKREQEERRDWLKREEETERHEQERRKQQLKRDQEEERRERWLK    421 - 490
LEEEERREQQERREQQLRREQEERREQRLKRQEEEERLQQRLRSEQQLRREQEERREQLLKREEEKRLEQ    491 - 560
ERREQRLKREQEERRDQLLKREEERRQQRLKREQEERLEQRLKREEVERLEQEERREQRLKREEPEEERR    561 - 630
QQLLKSEEQEERRQQQLRREQQERREQRLKREEEEERLEQRLKREHEEERREQELAEEEQEQARERIKSR    631 - 700
IPKWQWQLESEADARQSKVYSRPRKQEGQRRRQEQEEKRRRRESELQWQEEERAHRQQQEEEQRRDFTWQ    701 - 770
WQAEEKSERGRQRLSARPPLREQRERQLRAEERQQREQRFLPEEEEKEQRRRQRREREKELQFLEEEEQL    771 - 840
QRRERAQQLQEEEDGLQEDQERRRSQEQRRDQKWRWQLEEERKRRRHTLYAKPALQEQLRKEQQLLQEEE    841 - 910
EELQREEREKRRRQEQERQYREEEQLQQEEEQLLREEREKRRRQERERQYRKDKKLQQKEEQLLGEEPEK    911 - 980
RRRQEREKKYREEEELQQEEEQLLREEREKRRRQEWERQYRKKDELQQEEEQLLREEREKRRLQERERQY    981 - 1050
REEEELQQEEEQLLGEERETRRRQELERQYRKEEELQQEEEQLLREEPEKRRRQERERQCREEEELQQEE   1051 - 1120
EQLLREEREKRRRQELERQYREEEEVQQEEEQLLREEPEKRRRQELERQYREEEELQQEEEQLLREEQEK   1121 - 1190
RRQERERQYREEEELQRQKRKQRYRDEDQRSDLKWQWEPEKENAVRDNKVYCKGRENEQFRQLEDSQLRD   1191 - 1260
RQSQQDLQHLLGEQQERDREQERRRWQQRDRHFPEEEQLEREEQKEAKRRDRKSQEEKQLLREEREEKRR   1261 - 1330
RQETDRKFREEEQLLQEREEQPLRRQERDRKFREEELRHQEQGRKFLEEEQRLRRQERERKFLKEEQQLR   1331 - 1400
CQEREQQLRQDRDRKFREEEQQLSRQERDRKFREEEQQVRRQERERKFLEEEQQLRQERHRKFREEEQLL   1401 - 1470
QEREEQQLHRQERDRKFLEEEQQLRRQERDRKFREQELRSQEPERKFLEEEQQLHRQQRQRKFLQEEQQL   1471 - 1540
RRQERGQQRRQDRDRKFREEEQLRQEREEQQLSRQERDRKFRLEEQKVRRQEQERKFMEDEQQLRRQEGQ   1541 - 1610
QQLRQERDRKFREDEQLLQEREEQQLHRQERDRKFLEEEPQLRRQEREQQLRHDRDRKFREEEQLLQEGE   1611 - 1680
EQQLRRQERDRKFREEEQQLRRQERERKFLQEEQQLRRQELERKFREEEQLRQETEQEQLRRQERYRKIL   1681 - 1750
EEEQLRPEREEQQLRRQERDRKFREEEQLRQEREEQQLRSQESDRKFREEEQLRQEREEQQLRPQQRDGK   1751 - 1820
YRWEEEQLQLEEQEQRLRQERDRQYRAEEQFATQEKSRREEQELWQEEEQKRRQERERKLREEHIRRQQK   1821 - 1890
EEQRHRQVGEIKSQEGKGHGRLLEPGTHQFASVPVRSSPLYEYIQEQRSQYRP                    1891 - 1943
//

Text Mined References (14)

PMID Year Title
21248752 2011 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
20722389 2010 Trichohyalin is a potential major autoantigen in human alopecia areata.
20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
19896111 2009 Common variants in the trichohyalin gene are associated with straight hair in Europeans.
18643848 2009 Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
12853460 2003 Trichohyalin mechanically strengthens the hair follicle: multiple cross-bridging roles in the inner root shealth.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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