ID K2C75_HUMAN Reviewed; 551 AA.
AC O95678; B4DQU4; Q9NSA9;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 16-JUN-2009, sequence version 2.
DT 24-JAN-2024, entry version 163.
DE RecName: Full=Keratin, type II cytoskeletal 75;
DE AltName: Full=Cytokeratin-75;
DE Short=CK-75;
DE AltName: Full=Keratin-6 hair follicle;
DE Short=hK6hf;
DE AltName: Full=Keratin-75;
DE Short=K75;
DE AltName: Full=Type II keratin-K6hf;
DE AltName: Full=Type-II keratin Kb18;
GN Name=KRT75; Synonyms=K6HF, KB18;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANTS GLY-91 AND
RP ARG-485.
RC TISSUE=Hair follicle;
RX PubMed=9856802; DOI=10.1046/j.1523-1747.1998.00456.x;
RA Winter H., Langbein L., Praetzel S., Jacobs M., Rogers M.A., Leigh I.M.,
RA Tidman N., Schweizer J.;
RT "A novel human type II cytokeratin, K6hf, specifically expressed in the
RT companion layer of the hair follicle.";
RL J. Invest. Dermatol. 111:955-962(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS GLY-91 AND ARG-485.
RX PubMed=10692104; DOI=10.1046/j.1523-1747.2000.00910.x;
RA Rogers M.A., Winter H., Langbein L., Wolf C., Schweizer J.;
RT "Characterization of a 300 kbp region of human DNA containing the type II
RT hair keratin.";
RL J. Invest. Dermatol. 114:464-472(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=14675170; DOI=10.1111/j.1523-1747.2003.12644.x;
RA Wang Z., Wong P., Langbein L., Schweizer J., Coulombe P.A.;
RT "Type II epithelial keratin 6hf (K6hf) is expressed in the companion layer,
RT matrix, and medulla in anagen-stage hair follicles.";
RL J. Invest. Dermatol. 121:1276-1282(2003).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=15292489; DOI=10.1152/physiolgenomics.00134.2004;
RA Roh C., Tao Q., Lyle S.;
RT "Dermal papilla-induced hair differentiation of adult epithelial stem cells
RT from human skin.";
RL Physiol. Genomics 19:207-217(2004).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=18032949; DOI=10.1097/dad.0b013e318158d741;
RA Perrin C.;
RT "Expression of follicular sheath keratins in the normal nail with special
RT reference to the morphological analysis of the distal nail unit.";
RL Am. J. Dermatopathol. 29:543-550(2007).
RN [8]
RP VARIANT LAHS LYS-337.
RX PubMed=11939812; DOI=10.1001/archderm.138.4.501;
RA Chapalain V., Winter H., Langbein L., Le Roy J.-M., Labreze C., Nikolic M.,
RA Schweizer J., Taieb A.;
RT "Is the loose anagen hair syndrome a keratin disorder? A clinical and
RT molecular study.";
RL Arch. Dermatol. 138:501-506(2002).
RN [9]
RP VARIANT THR-161, CHARACTERIZATION OF VARIANT THR-161, AND ASSOCIATION WITH
RP INCREASED RISK TO DEVELOP PFB.
RX PubMed=15086549; DOI=10.1111/j.0022-202x.2004.22309.x;
RA Winter H., Schissel D., Parry D.A.D., Smith T.A., Liovic M.,
RA Birgitte Lane E., Edler L., Langbein L., Jave-Suarez L.F., Rogers M.A.,
RA Wilde J., Peters G., Schweizer J.;
RT "An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the
RT companion layer-specific keratin K6hf: evidence for a risk factor in the
RT etiology of the common hair disorder pseudofolliculitis barbae.";
RL J. Invest. Dermatol. 122:652-657(2004).
CC -!- FUNCTION: Plays a central role in hair and nail formation. Essential
CC component of keratin intermediate filaments in the companion layer of
CC the hair follicle.
CC -!- SUBUNIT: Heterodimer of a type I and a type II keratin. May associate
CC with KRT17. {ECO:0000250}.
CC -!- INTERACTION:
CC O95678; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-2949715, EBI-11096309;
CC O95678; Q9NX04: AIRIM; NbExp=3; IntAct=EBI-2949715, EBI-8643161;
CC O95678; A2BDD9: AMOT; NbExp=3; IntAct=EBI-2949715, EBI-17286414;
CC O95678; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-2949715, EBI-11954519;
CC O95678; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-2949715, EBI-742909;
CC O95678; Q8WXK1: ASB15; NbExp=3; IntAct=EBI-2949715, EBI-12809012;
CC O95678; O75934: BCAS2; NbExp=3; IntAct=EBI-2949715, EBI-1050106;
CC O95678; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-2949715, EBI-745073;
CC O95678; Q9UFG5: C19orf25; NbExp=3; IntAct=EBI-2949715, EBI-741214;
CC O95678; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-2949715, EBI-747505;
CC O95678; Q53TS8: C2CD6; NbExp=3; IntAct=EBI-2949715, EBI-739879;
CC O95678; Q9UQM7: CAMK2A; NbExp=3; IntAct=EBI-2949715, EBI-1383687;
CC O95678; Q9BWT7: CARD10; NbExp=3; IntAct=EBI-2949715, EBI-3866279;
CC O95678; Q9H257-2: CARD9; NbExp=3; IntAct=EBI-2949715, EBI-11530605;
CC O95678; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-2949715, EBI-10171570;
CC O95678; Q8NCU1: CCDC197; NbExp=3; IntAct=EBI-2949715, EBI-750686;
CC O95678; Q8TD31-3: CCHCR1; NbExp=3; IntAct=EBI-2949715, EBI-10175300;
CC O95678; Q16543: CDC37; NbExp=3; IntAct=EBI-2949715, EBI-295634;
CC O95678; Q07002: CDK18; NbExp=3; IntAct=EBI-2949715, EBI-746238;
CC O95678; P55273: CDKN2D; NbExp=3; IntAct=EBI-2949715, EBI-745859;
CC O95678; Q86XR8-3: CEP57; NbExp=3; IntAct=EBI-2949715, EBI-11752486;
CC O95678; Q8IYR0: CFAP206; NbExp=3; IntAct=EBI-2949715, EBI-749051;
CC O95678; Q9UBL6-2: CPNE7; NbExp=3; IntAct=EBI-2949715, EBI-12012272;
CC O95678; Q9BSW2: CRACR2A; NbExp=3; IntAct=EBI-2949715, EBI-739773;
CC O95678; P17661: DES; NbExp=3; IntAct=EBI-2949715, EBI-1055572;
CC O95678; O43143: DHX15; NbExp=3; IntAct=EBI-2949715, EBI-1237044;
CC O95678; Q9NPF5: DMAP1; NbExp=3; IntAct=EBI-2949715, EBI-399105;
CC O95678; Q96EV8: DTNBP1; NbExp=3; IntAct=EBI-2949715, EBI-465804;
CC O95678; Q8WWB3: DYDC1; NbExp=3; IntAct=EBI-2949715, EBI-740680;
CC O95678; Q5JVL4: EFHC1; NbExp=3; IntAct=EBI-2949715, EBI-743105;
CC O95678; Q7L775: EPM2AIP1; NbExp=3; IntAct=EBI-2949715, EBI-6255981;
CC O95678; Q96EF6: FBXO17; NbExp=3; IntAct=EBI-2949715, EBI-2510157;
CC O95678; O75344: FKBP6; NbExp=3; IntAct=EBI-2949715, EBI-744771;
CC O95678; Q8IVS8: GLYCTK; NbExp=3; IntAct=EBI-2949715, EBI-748515;
CC O95678; Q96IK5: GMCL1; NbExp=3; IntAct=EBI-2949715, EBI-2548508;
CC O95678; Q08379: GOLGA2; NbExp=3; IntAct=EBI-2949715, EBI-618309;
CC O95678; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-2949715, EBI-5916454;
CC O95678; O95872: GPANK1; NbExp=3; IntAct=EBI-2949715, EBI-751540;
CC O95678; A0A024R8L2: hCG_1987119; NbExp=3; IntAct=EBI-2949715, EBI-14103818;
CC O95678; O14964: HGS; NbExp=3; IntAct=EBI-2949715, EBI-740220;
CC O95678; P52597: HNRNPF; NbExp=3; IntAct=EBI-2949715, EBI-352986;
CC O95678; Q0VD86: INCA1; NbExp=3; IntAct=EBI-2949715, EBI-6509505;
CC O95678; Q8NA54: IQUB; NbExp=3; IntAct=EBI-2949715, EBI-10220600;
CC O95678; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-2949715, EBI-2556193;
CC O95678; Q96MP8-2: KCTD7; NbExp=3; IntAct=EBI-2949715, EBI-11954971;
CC O95678; Q9HAQ2: KIF9; NbExp=3; IntAct=EBI-2949715, EBI-8472129;
CC O95678; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-2949715, EBI-14069005;
CC O95678; P13646: KRT13; NbExp=3; IntAct=EBI-2949715, EBI-1223876;
CC O95678; P19012: KRT15; NbExp=3; IntAct=EBI-2949715, EBI-739566;
CC O95678; P08727: KRT19; NbExp=3; IntAct=EBI-2949715, EBI-742756;
CC O95678; P35900: KRT20; NbExp=3; IntAct=EBI-2949715, EBI-742094;
CC O95678; Q2M2I5: KRT24; NbExp=3; IntAct=EBI-2949715, EBI-2952736;
CC O95678; Q7Z3Z0: KRT25; NbExp=3; IntAct=EBI-2949715, EBI-11980019;
CC O95678; Q7Z3Y9: KRT26; NbExp=3; IntAct=EBI-2949715, EBI-12084444;
CC O95678; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-2949715, EBI-3044087;
CC O95678; P12035: KRT3; NbExp=3; IntAct=EBI-2949715, EBI-2430095;
CC O95678; Q15323: KRT31; NbExp=3; IntAct=EBI-2949715, EBI-948001;
CC O95678; Q14525: KRT33B; NbExp=3; IntAct=EBI-2949715, EBI-1049638;
CC O95678; O76011: KRT34; NbExp=4; IntAct=EBI-2949715, EBI-1047093;
CC O95678; Q92764: KRT35; NbExp=3; IntAct=EBI-2949715, EBI-1058674;
CC O95678; O76013-2: KRT36; NbExp=5; IntAct=EBI-2949715, EBI-11958506;
CC O95678; O76014: KRT37; NbExp=3; IntAct=EBI-2949715, EBI-1045716;
CC O95678; O76015: KRT38; NbExp=3; IntAct=EBI-2949715, EBI-1047263;
CC O95678; Q6A162: KRT40; NbExp=3; IntAct=EBI-2949715, EBI-10171697;
CC O95678; Q01546: KRT76; NbExp=3; IntAct=EBI-2949715, EBI-2952745;
CC O95678; O95447: LCA5L; NbExp=3; IntAct=EBI-2949715, EBI-8473670;
CC O95678; P25800: LMO1; NbExp=3; IntAct=EBI-2949715, EBI-8639312;
CC O95678; P25791-3: LMO2; NbExp=3; IntAct=EBI-2949715, EBI-11959475;
CC O95678; P61968: LMO4; NbExp=3; IntAct=EBI-2949715, EBI-2798728;
CC O95678; Q17RB8: LONRF1; NbExp=3; IntAct=EBI-2949715, EBI-2341787;
CC O95678; Q96A72: MAGOHB; NbExp=3; IntAct=EBI-2949715, EBI-746778;
CC O95678; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-2949715, EBI-10172526;
CC O95678; Q13064: MKRN3; NbExp=3; IntAct=EBI-2949715, EBI-2340269;
CC O95678; Q8NEH6: MNS1; NbExp=3; IntAct=EBI-2949715, EBI-743811;
CC O95678; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-2949715, EBI-11522433;
CC O95678; Q8TDC0: MYOZ3; NbExp=3; IntAct=EBI-2949715, EBI-5662487;
CC O95678; Q9UBB6: NCDN; NbExp=3; IntAct=EBI-2949715, EBI-1053490;
CC O95678; O14777: NDC80; NbExp=3; IntAct=EBI-2949715, EBI-715849;
CC O95678; Q9HC98-4: NEK6; NbExp=3; IntAct=EBI-2949715, EBI-11750983;
CC O95678; Q8NI38: NFKBID; NbExp=6; IntAct=EBI-2949715, EBI-10271199;
CC O95678; Q9Y5B8: NME7; NbExp=3; IntAct=EBI-2949715, EBI-744782;
CC O95678; O43809: NUDT21; NbExp=3; IntAct=EBI-2949715, EBI-355720;
CC O95678; P37198: NUP62; NbExp=5; IntAct=EBI-2949715, EBI-347978;
CC O95678; O43482: OIP5; NbExp=5; IntAct=EBI-2949715, EBI-536879;
CC O95678; Q9UJX0: OSGIN1; NbExp=3; IntAct=EBI-2949715, EBI-9057006;
CC O95678; Q58EX7: PLEKHG4; NbExp=3; IntAct=EBI-2949715, EBI-949255;
CC O95678; Q8IYS1: PM20D2; NbExp=3; IntAct=EBI-2949715, EBI-11339910;
CC O95678; O15160: POLR1C; NbExp=3; IntAct=EBI-2949715, EBI-1055079;
CC O95678; Q9BUI4: POLR3C; NbExp=3; IntAct=EBI-2949715, EBI-5452779;
CC O95678; P41219: PRPH; NbExp=3; IntAct=EBI-2949715, EBI-752074;
CC O95678; Q9P2K3-2: RCOR3; NbExp=3; IntAct=EBI-2949715, EBI-1504830;
CC O95678; Q9UHP6: RSPH14; NbExp=4; IntAct=EBI-2949715, EBI-748350;
CC O95678; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-2949715, EBI-748391;
CC O95678; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-2949715, EBI-358489;
CC O95678; Q96R06: SPAG5; NbExp=3; IntAct=EBI-2949715, EBI-413317;
CC O95678; P02549: SPTA1; NbExp=3; IntAct=EBI-2949715, EBI-375617;
CC O95678; O75558: STX11; NbExp=3; IntAct=EBI-2949715, EBI-714135;
CC O95678; Q9UMX1: SUFU; NbExp=3; IntAct=EBI-2949715, EBI-740595;
CC O95678; Q86TI0: TBC1D1; NbExp=3; IntAct=EBI-2949715, EBI-1644036;
CC O95678; Q9BT92: TCHP; NbExp=3; IntAct=EBI-2949715, EBI-740781;
CC O95678; Q969V4: TEKT1; NbExp=3; IntAct=EBI-2949715, EBI-10180409;
CC O95678; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-2949715, EBI-750487;
CC O95678; Q5JTD0: TJAP1; NbExp=3; IntAct=EBI-2949715, EBI-2814077;
CC O95678; O14787-2: TNPO2; NbExp=3; IntAct=EBI-2949715, EBI-12076664;
CC O95678; Q9Y5L0: TNPO3; NbExp=3; IntAct=EBI-2949715, EBI-1042571;
CC O95678; Q13077: TRAF1; NbExp=3; IntAct=EBI-2949715, EBI-359224;
CC O95678; P36406: TRIM23; NbExp=3; IntAct=EBI-2949715, EBI-740098;
CC O95678; P14373: TRIM27; NbExp=3; IntAct=EBI-2949715, EBI-719493;
CC O95678; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-2949715, EBI-2130429;
CC O95678; Q8N7C3: TRIML2; NbExp=3; IntAct=EBI-2949715, EBI-11059915;
CC O95678; Q99816: TSG101; NbExp=3; IntAct=EBI-2949715, EBI-346882;
CC O95678; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-2949715, EBI-3918381;
CC O95678; P40222: TXLNA; NbExp=3; IntAct=EBI-2949715, EBI-359793;
CC O95678; Q8N3L3: TXLNB; NbExp=3; IntAct=EBI-2949715, EBI-6116822;
CC O95678; Q01081: U2AF1; NbExp=3; IntAct=EBI-2949715, EBI-632461;
CC O95678; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-2949715, EBI-739895;
CC O95678; P08670: VIM; NbExp=3; IntAct=EBI-2949715, EBI-353844;
CC O95678; Q9Y3C0: WASHC3; NbExp=3; IntAct=EBI-2949715, EBI-712969;
CC O95678; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-2949715, EBI-12040603;
CC O95678; O43592: XPOT; NbExp=3; IntAct=EBI-2949715, EBI-286683;
CC O95678; P36508: ZNF76; NbExp=3; IntAct=EBI-2949715, EBI-7254550;
CC O95678; O95229: ZWINT; NbExp=3; IntAct=EBI-2949715, EBI-1001132;
CC -!- TISSUE SPECIFICITY: Highly expressed in hair follicles from scalp.
CC Specifically expressed in the of the hair companion layer follicle, a
CC single layered band of flat and vertically oriented cells between the
CC cuboidal outer root sheath (ORS) cells and the inner root sheath (IRS)
CC that stretches from the lowermost bulb region to the isthmus of the
CC follicle. Also expressed in medullated hairs. In nails, it is almost
CC exclusively present in the nail bed (at protein level).
CC {ECO:0000269|PubMed:14675170, ECO:0000269|PubMed:15292489,
CC ECO:0000269|PubMed:18032949, ECO:0000269|PubMed:9856802}.
CC -!- POLYMORPHISM: The Thr-161 variant may increase risk to develop
CC pseudofolliculitis barbae (PFB) [MIM:612318]. PFB is a common hair
CC disorder characterized by a pustular foreign body inflammatory reaction
CC that is induced by ingrown hairs of the facial and submental (barbea)
CC regions after regular shaving. It occurs predominantly in black males,
CC while it is rather rare and usually far less severe in Caucasian males.
CC -!- DISEASE: Loose anagen hair syndrome (LAHS) [MIM:600628]: In LAHS,
CC anagen hairs are easily pulled from the scalp. The hair is relatively
CC sparse and does not grow long. Hair of fair color and hair shafts of
CC reduced caliber, and an early age of onset are features. Usually the
CC hairs are not fragile and there are no areas of breakage.
CC {ECO:0000269|PubMed:11939812}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: May be used as a marker of hair differentiation.
CC -!- MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar
CC keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa,
CC respectively).
CC -!- SIMILARITY: Belongs to the intermediate filament family.
CC {ECO:0000255|PROSITE-ProRule:PRU01188}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAG61056.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; Y17282; CAA76730.1; -; mRNA.
DR EMBL; Y19212; CAB76832.1; -; Genomic_DNA.
DR EMBL; AK298960; BAG61056.1; ALT_INIT; mRNA.
DR EMBL; AC055736; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS8827.1; -.
DR RefSeq; NP_004684.2; NM_004693.2.
DR AlphaFoldDB; O95678; -.
DR SMR; O95678; -.
DR BioGRID; 114567; 178.
DR IntAct; O95678; 146.
DR MINT; O95678; -.
DR STRING; 9606.ENSP00000252245; -.
DR Allergome; 415; Hom s 5.
DR GlyGen; O95678; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O95678; -.
DR PhosphoSitePlus; O95678; -.
DR SwissPalm; O95678; -.
DR BioMuta; KRT75; -.
DR EPD; O95678; -.
DR jPOST; O95678; -.
DR MassIVE; O95678; -.
DR PaxDb; 9606-ENSP00000252245; -.
DR PeptideAtlas; O95678; -.
DR PRIDE; O95678; -.
DR ProteomicsDB; 50995; -.
DR Antibodypedia; 14610; 175 antibodies from 20 providers.
DR DNASU; 9119; -.
DR Ensembl; ENST00000252245.6; ENSP00000252245.5; ENSG00000170454.6.
DR GeneID; 9119; -.
DR KEGG; hsa:9119; -.
DR MANE-Select; ENST00000252245.6; ENSP00000252245.5; NM_004693.3; NP_004684.2.
DR UCSC; uc001saj.3; human.
DR AGR; HGNC:24431; -.
DR CTD; 9119; -.
DR DisGeNET; 9119; -.
DR GeneCards; KRT75; -.
DR HGNC; HGNC:24431; KRT75.
DR HPA; ENSG00000170454; Tissue enriched (skin).
DR MalaCards; KRT75; -.
DR MIM; 600628; phenotype.
DR MIM; 609025; gene.
DR MIM; 612318; phenotype.
DR neXtProt; NX_O95678; -.
DR OpenTargets; ENSG00000170454; -.
DR PharmGKB; PA147357763; -.
DR VEuPathDB; HostDB:ENSG00000170454; -.
DR eggNOG; ENOG502RTYA; Eukaryota.
DR GeneTree; ENSGT00940000155862; -.
DR HOGENOM; CLU_012560_6_1_1; -.
DR InParanoid; O95678; -.
DR OMA; SIKKQCS; -.
DR OrthoDB; 4640531at2759; -.
DR PhylomeDB; O95678; -.
DR TreeFam; TF317854; -.
DR PathwayCommons; O95678; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; O95678; -.
DR BioGRID-ORCS; 9119; 14 hits in 1136 CRISPR screens.
DR ChiTaRS; KRT75; human.
DR GenomeRNAi; 9119; -.
DR Pharos; O95678; Tbio.
DR PRO; PR:O95678; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; O95678; Protein.
DR Bgee; ENSG00000170454; Expressed in hair follicle and 54 other cell types or tissues.
DR Genevisible; O95678; HS.
DR GO; GO:0001533; C:cornified envelope; IEA:Ensembl.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005882; C:intermediate filament; IDA:CACAO.
DR GO; GO:0045095; C:keratin filament; IBA:GO_Central.
DR GO; GO:0030280; F:structural constituent of skin epidermis; IBA:GO_Central.
DR GO; GO:0005198; F:structural molecule activity; TAS:ProtInc.
DR GO; GO:0002244; P:hematopoietic progenitor cell differentiation; IEA:Ensembl.
DR GO; GO:0045109; P:intermediate filament organization; IBA:GO_Central.
DR GO; GO:0031424; P:keratinization; IBA:GO_Central.
DR Gene3D; 1.20.5.170; -; 1.
DR Gene3D; 1.20.5.500; Single helix bin; 1.
DR Gene3D; 1.20.5.1160; Vasodilator-stimulated phosphoprotein; 1.
DR InterPro; IPR018039; IF_conserved.
DR InterPro; IPR039008; IF_rod_dom.
DR InterPro; IPR032444; Keratin_2_head.
DR InterPro; IPR003054; Keratin_II.
DR PANTHER; PTHR45616; GATA-TYPE DOMAIN-CONTAINING PROTEIN; 1.
DR PANTHER; PTHR45616:SF13; KERATIN, TYPE II CYTOSKELETAL 75; 1.
DR Pfam; PF00038; Filament; 1.
DR Pfam; PF16208; Keratin_2_head; 1.
DR PRINTS; PR01276; TYPE2KERATIN.
DR SMART; SM01391; Filament; 1.
DR SUPFAM; SSF64593; Intermediate filament protein, coiled coil region; 3.
DR PROSITE; PS00226; IF_ROD_1; 1.
DR PROSITE; PS51842; IF_ROD_2; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Disease variant; Intermediate filament; Keratin;
KW Reference proteome.
FT CHAIN 1..551
FT /note="Keratin, type II cytoskeletal 75"
FT /id="PRO_0000314887"
FT DOMAIN 149..462
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..148
FT /note="Head"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 149..184
FT /note="Coil 1A"
FT REGION 185..203
FT /note="Linker 1"
FT REGION 204..296
FT /note="Coil 1B"
FT REGION 297..319
FT /note="Linker 12"
FT REGION 320..458
FT /note="Coil 2"
FT REGION 459..551
FT /note="Tail"
FT REGION 529..551
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 400
FT /note="Stutter"
FT VARIANT 39
FT /note="R -> C (in dbSNP:rs2232384)"
FT /id="VAR_038098"
FT VARIANT 91
FT /note="R -> G (in dbSNP:rs298109)"
FT /evidence="ECO:0000269|PubMed:10692104,
FT ECO:0000269|PubMed:9856802"
FT /id="VAR_038099"
FT VARIANT 117
FT /note="P -> A (in dbSNP:rs2232386)"
FT /id="VAR_038100"
FT VARIANT 161
FT /note="A -> T (may increase risk to develop PFB; the
FT variant is disruptive at late stages of filament assembly
FT compromising the aggregation of keratin molecules into
FT intermediate filaments; dbSNP:rs2232387)"
FT /evidence="ECO:0000269|PubMed:15086549"
FT /id="VAR_038101"
FT VARIANT 209
FT /note="R -> Q (in dbSNP:rs2232390)"
FT /id="VAR_038102"
FT VARIANT 242
FT /note="E -> G (in dbSNP:rs2232393)"
FT /id="VAR_038103"
FT VARIANT 337
FT /note="E -> K (in LAHS; dbSNP:rs2232398)"
FT /evidence="ECO:0000269|PubMed:11939812"
FT /id="VAR_038104"
FT VARIANT 367
FT /note="I -> V (in dbSNP:rs2232402)"
FT /id="VAR_038105"
FT VARIANT 427
FT /note="M -> T (in dbSNP:rs2232405)"
FT /id="VAR_038106"
FT VARIANT 432
FT /note="R -> C (in dbSNP:rs2232406)"
FT /id="VAR_038107"
FT VARIANT 485
FT /note="S -> R (in dbSNP:rs298104)"
FT /evidence="ECO:0000269|PubMed:10692104,
FT ECO:0000269|PubMed:9856802"
FT /id="VAR_038108"
FT CONFLICT 284
FT /note="I -> S (in Ref. 1; CAA76730)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 551 AA; 59560 MW; 9099CD53A0BAF1EB CRC64;
MSRQSSITFQ SGSRRGFSTT SAITPAAGRS RFSSVSVARS AAGSGGLGRI SSAGASFGSR
SLYNLGGAKR VSINGCGSSC RSGFGGRASN RFGVNSGFGY GGGVGGGFSG PSFPVCPPGG
IQEVTVNQSL LTPLHLQIDP TIQRVRAEER EQIKTLNNKF ASFIDKVRFL EQQNKVLETK
WALLQEQGSR TVRQNLEPLF DSYTSELRRQ LESITTERGR LEAELRNMQD VVEDFKVRYE
DEINKRTAAE NEFVALKKDV DAAYMNKVEL EAKVKSLPEE INFIHSVFDA ELSQLQTQVG
DTSVVLSMDN NRNLDLDSII AEVKAQYEDI ANRSRAEAES WYQTKYEELQ VTAGRHGDDL
RNTKQEISEM NRMIQRLRAE IDSVKKQCSS LQTAIADAEQ RGELALKDAR AKLVDLEEAL
QKAKQDMARL LREYQELMNI KLALDVEIAT YRKLLEGEEC RLSGEGVSPV NISVVTSTLS
SGYGSGSSIG GGNLGLGGGS GYSFTTSGGH SLGAGLGGSG FSATSNRGLG GSGSSVKFVS
TTSSSQKSYT H
//
