BACK
HOME
Q07283 Proteins with OtherRepeats Repeats
Uniprot ID: Q07283
Protein name : Trichohyalin
Gene : TCHH THH THL TRHY
Protein Families : S100-fused protein family
Squence Length : 1943
Sequence
>Q07283 1944 MSPLLRSICDITEIFNQYVSHDCDGAALTKKDLKNLLEREFGAVLRRPHDPKTVDLILELLDLDSNGRVDFNEFLLFIFKVAQACYYALGQATGLDEEKRARCDGKESLLQDRRQEEDQRRFEPRDRQLEEEPGQRRRQKRQEQERELAEGEEQSEKQERLEQRDRQRRDEELWRQRQEWQEREERRAEEEQLQSCKGHETEEFPDEEQLRRRELLELRRKGREEKQQQRRERQDRVFQEEEEKEWRKRETVLRKEEEKLQEEEPQRQRELQEEEEQLRKLERQELRRERQEEEQQQQRLRREQQLRRKQEEERREQQEERREQQERREQQEERREQQLRREQEERREQQLRREQEEERREQQLRREQEEERREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQEEERHEQKHEQERREQRLKREQEERRDWLKREEETERHEQERRKQQLKRDQEEERRERWLKLEEEERREQQERREQQLRREQEERREQRLKRQEEEERLQQRLRSEQQLRREQEERREQLLKREEEKRLEQERREQRLKREQEERRDQLLKREEERRQQRLKREQEERLEQRLKREEVERLEQEERREQRLKREEPEEERRQQLLKSEEQEERRQQQLRREQQERREQRLKREEEEERLEQRLKREHEEERREQELAEEEQEQARERIKSRIPKWQWQLESEADARQSKVYSRPRKQEGQRRRQEQEEKRRRRESELQWQEEERAHRQQQEEEQRRDFTWQWQAEEKSERGRQRLSARPPLREQRERQLRAEERQQREQRFLPEEEEKEQRRRQRREREKELQFLEEEEQLQRRERAQQLQEEEDGLQEDQERRRSQEQRRDQKWRWQLEEERKRRRHTLYAKPALQEQLRKEQQLLQEEEEELQREEREKRRRQEQERQYREEEQLQQEEEQLLREEREKRRRQERERQYRKDKKLQQKEEQLLGEEPEKRRRQEREKKYREEEELQQEEEQLLREEREKRRRQEWERQYRKKDELQQEEEQLLREEREKRRLQERERQYREEEELQQEEEQLLGEERETRRRQELERQYRKEEELQQEEEQLLREEPEKRRRQERERQCREEEELQQEEEQLLREEREKRRRQELERQYREEEEVQQEEEQLLREEPEKRRRQELERQYREEEELQQEEEQLLREEQEKRRQERERQYREEEELQRQKRKQRYRDEDQRSDLKWQWEPEKENAVRDNKVYCKGRENEQFRQLEDSQLRDRQSQQDLQHLLGEQQERDREQERRRWQQRDRHFPEEEQLEREEQKEAKRRDRKSQEEKQLLREEREEKRRRQETDRKFREEEQLLQEREEQPLRRQERDRKFREEELRHQEQGRKFLEEEQRLRRQERERKFLKEEQQLRCQEREQQLRQDRDRKFREEEQQLSRQERDRKFREEEQQVRRQERERKFLEEEQQLRQERHRKFREEEQLLQEREEQQLHRQERDRKFLEEEQQLRRQERDRKFREQELRSQEPERKFLEEEQQLHRQQRQRKFLQEEQQLRRQERGQQRRQDRDRKFREEEQLRQEREEQQLSRQERDRKFRLEEQKVRRQEQERKFMEDEQQLRRQEGQQQLRQERDRKFREDEQLLQEREEQQLHRQERDRKFLEEEPQLRRQEREQQLRHDRDRKFREEEQLLQEGEEQQLRRQERDRKFREEEQQLRRQERERKFLQEEQQLRRQELERKFREEEQLRQETEQEQLRRQERYRKILEEEQLRPEREEQQLRRQERDRKFREEEQLRQEREEQQLRSQESDRKFREEEQLRQEREEQQLRPQQRDGKYRWEEEQLQLEEQEQRLRQERDRQYRAEEQFATQEKSRREEQELWQEEEQKRRQERERKLREEHIRRQQKEEQRHRQVGEIKSQEGKGHGRLLEPGTHQFASVPVRSSPLYEYIQEQRSQYRP
Repeat regions
REPEAT 314 326 1-1 approximate REPEAT 327 339 1-2 approximate REPEAT 340 351 1-3 approximate REPEAT 352 364 1-4 REPEAT 365 377 1-5 REPEAT 378 383 2-1 REPEAT 384 389 2-2 REPEAT 390 395 2-3 REPEAT 396 401 2-4 REPEAT 402 407 2-5 REPEAT 408 413 2-6 REPEAT 414 419 2-7 REPEAT 420 425 2-8 REPEAT 906 935 4-1 REPEAT 936 965 4-2 REPEAT 966 995 4-3 REPEAT 996 1025 4-4 REPEAT 1026 1055 4-5 REPEAT 1056 1085 4-6 REPEAT 1086 1115 4-7 REPEAT 1116 1145 4-8 REPEAT 1146 1175 4-9 REPEAT 1176 1204 4-10
Sequence region of repeats
314- 326 EQQEERREQQERR - S 327- 339 EQQEERREQQLRR - S 340- 351 EQEERREQQLRR - S 352- 364 EQEEERREQQLRR 365- 377 EQEEERREQQLRR 378- 383 EQQLRR 384- 389 EQQLRR 390- 395 EQQLRR 396- 401 EQQLRR 402- 407 EQQLRR 408- 413 EQQLRR 414- 419 EQQLRR 420- 425 EQQLRR 906- 935 EEEEELQREEREKRRRQEQERQYREEEQLQ 936- 965 QEEEQLLREEREKRRRQERERQYRKDKKLQ 966- 995 QKEEQLLGEEPEKRRRQEREKKYREEEELQ 996- 1025 QEEEQLLREEREKRRRQEWERQYRKKDELQ 1026- 1055 QEEEQLLREEREKRRLQERERQYREEEELQ 1056- 1085 QEEEQLLGEERETRRRQELERQYRKEEELQ 1086- 1115 QEEEQLLREEPEKRRRQERERQCREEEELQ 1116- 1145 QEEEQLLREEREKRRRQELERQYREEEEVQ 1146- 1175 QEEEQLLREEPEKRRRQELERQYREEEELQ 1176- 1204 QEEEQLLREEQEKRRQERERQYREEEELQ
Domains
DOMAIN 23 48 EF-hand 1. DOMAIN 49 84 EF-hand 2
Function
"Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation"
Calcium Binding
CA_BIND 22 33 1. low affinity. CA_BIND 62 73 2. high affinity
Mutation
Disease
"DISEASE: Uncombable hair syndrome 3 (UHS3) [MIM:617252]: A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable The hair growth rate can range from slow to normal, and the condition improves with age Note=The disease is caused by mutations affecting the gene represented in this entry"