KRT81_HUMAN
ID KRT81_HUMAN Reviewed; 505 AA.
AC Q14533; Q14846; Q16274; Q17R48; Q8WU52; Q9BR74;
DT 29-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 179.
DE RecName: Full=Keratin, type II cuticular Hb1;
DE AltName: Full=Hair keratin K2.9;
DE AltName: Full=Keratin, hair, basic, 1;
DE AltName: Full=Keratin-81;
DE Short=K81;
DE AltName: Full=Metastatic lymph node 137 gene protein;
DE Short=MLN 137;
DE AltName: Full=Type II hair keratin Hb1;
DE AltName: Full=Type-II keratin Kb21;
DE AltName: Full=ghHKb1;
DE Short=ghHb1;
GN Name=KRT81; Synonyms=KRTHB1, MLN137;
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 [GENOMIC DNA], TISSUE SPECIFICITY, AND VARIANT ARG-248.
RC TISSUE=Scalp;
RX PubMed=9457912; DOI=10.1046/j.1523-1747.1998.00097.x;
RA Bowden P.E., Hainey S.D., Parker G., Jones D.O., Zimonjic D., Popescu N.,
RA Hodgins M.B.;
RT "Characterization and chromosomal localization of human hair-specific
RT keratin genes and comparative expression during the hair growth cycle.";
RL J. Invest. Dermatol. 110:158-164(1998).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-248.
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 81-505, AND VARIANT ARG-248.
RC TISSUE=Scalp;
RX PubMed=7556444; DOI=10.1006/excr.1995.1326;
RA Rogers M.A., Nischt R., Korge B., Krieg T., Fink T.M., Lichter P.,
RA Winter H., Schweizer J.;
RT "Sequence data and chromosomal localization of human type I and type II
RT hair keratin genes.";
RL Exp. Cell Res. 220:357-362(1995).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 249-505, AND TISSUE SPECIFICITY.
RC TISSUE=Mammary carcinoma;
RX PubMed=7490069; DOI=10.1006/geno.1995.1163;
RA Tomasetto C.L., Regnier C.H., Moog-Lutz C., Mattei M.-G., Chenard M.-P.,
RA Lidereau R., Basset P., Rio M.-C.;
RT "Identification of four novel human genes amplified and overexpressed in
RT breast carcinoma and localized to the q11-q21.3 region of chromosome 17.";
RL Genomics 28:367-376(1995).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 390-470, AND TISSUE SPECIFICITY.
RX PubMed=7528047; DOI=10.1016/0923-1811(94)90046-9;
RA Bowden P.E., Hainey S., Parker G., Hodgins M.B.;
RT "Sequence and expression of human hair keratin genes.";
RL J. Dermatol. Sci. 7:S152-S163(1994).
RN [7]
RP VARIANT MNLIX LYS-413.
RX PubMed=9402962; DOI=10.1007/s004390050607;
RA Winter H., Rogers M.A., Gebhardt M., Wollina U., Boxall L., Chitayat D.,
RA Babul-Hirji R., Stevens H.P., Zlotogorski A., Schweizer J.;
RT "A new mutation in the type II hair cortex keratin hHb1 involved in the
RT inherited hair disorder monilethrix.";
RL Hum. Genet. 101:165-169(1997).
RN [8]
RP VARIANT MNLIX LYS-402.
RX PubMed=9665406; DOI=10.1046/j.1523-1747.1998.00234.x;
RA Winter H., Labreze C., Chapalain V., Surleve-Bazeille J.E., Mercier M.,
RA Rogers M.A., Taieb A., Schweizer J.;
RT "A variable monilethrix phenotype associated with a novel mutation,
RT Glu402Lys, in the helix termination motif of the type II hair keratin
RT hHb1.";
RL J. Invest. Dermatol. 111:169-172(1998).
RN [9]
RP VARIANT MNLIX CYS-408.
RX PubMed=25557232; DOI=10.1111/exd.12624;
RA van Steensel M., Vreeburg M., Urbina M.T., Lopez P., Morice-Picard F.,
RA van Geel M.;
RT "Novel KRT83 and KRT86 mutations associated with monilethrix.";
RL Exp. Dermatol. 24:222-224(2015).
CC -!- SUBUNIT: Heterotetramer of two type I and two type II keratins.
CC -!- INTERACTION:
CC Q14533; Q86V38: ATN1; NbExp=3; IntAct=EBI-739648, EBI-11954292;
CC Q14533; P02489: CRYAA; NbExp=3; IntAct=EBI-739648, EBI-6875961;
CC Q14533; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-739648, EBI-3867333;
CC Q14533; P49639: HOXA1; NbExp=5; IntAct=EBI-739648, EBI-740785;
CC Q14533; Q92876: KLK6; NbExp=3; IntAct=EBI-739648, EBI-2432309;
CC Q14533; P02533: KRT14; NbExp=3; IntAct=EBI-739648, EBI-702178;
CC Q14533; P19012: KRT15; NbExp=4; IntAct=EBI-739648, EBI-739566;
CC Q14533; P08779: KRT16; NbExp=3; IntAct=EBI-739648, EBI-356410;
CC Q14533; P05783: KRT18; NbExp=3; IntAct=EBI-739648, EBI-297888;
CC Q14533; P08727: KRT19; NbExp=3; IntAct=EBI-739648, EBI-742756;
CC Q14533; Q7Z3Y9: KRT26; NbExp=3; IntAct=EBI-739648, EBI-12084444;
CC Q14533; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-739648, EBI-3044087;
CC Q14533; Q7Z3Y7: KRT28; NbExp=3; IntAct=EBI-739648, EBI-11980489;
CC Q14533; Q15323: KRT31; NbExp=8; IntAct=EBI-739648, EBI-948001;
CC Q14533; O76011: KRT34; NbExp=3; IntAct=EBI-739648, EBI-1047093;
CC Q14533; Q92764: KRT35; NbExp=3; IntAct=EBI-739648, EBI-1058674;
CC Q14533; O76014: KRT37; NbExp=5; IntAct=EBI-739648, EBI-1045716;
CC Q14533; O76015: KRT38; NbExp=10; IntAct=EBI-739648, EBI-1047263;
CC Q14533; Q6A163: KRT39; NbExp=3; IntAct=EBI-739648, EBI-11958242;
CC Q14533; Q6A162: KRT40; NbExp=8; IntAct=EBI-739648, EBI-10171697;
CC Q14533; Q9BQD3: KXD1; NbExp=2; IntAct=EBI-739648, EBI-739657;
CC Q14533; O95447: LCA5L; NbExp=3; IntAct=EBI-739648, EBI-8473670;
CC Q14533; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-739648, EBI-16439278;
CC Q14533; O43482: OIP5; NbExp=5; IntAct=EBI-739648, EBI-536879;
CC Q14533; P32242: OTX1; NbExp=8; IntAct=EBI-739648, EBI-740446;
CC Q14533; P09022: Hoxa1; Xeno; NbExp=3; IntAct=EBI-739648, EBI-3957603;
CC -!- TISSUE SPECIFICITY: Abundantly expressed in the differentiating cortex
CC of growing (anagen) hair. Expression is restricted to the keratinocytes
CC of the hair cortex and is absent from inner root sheath and medulla.
CC Expressed in malignant lymph node tissue in breast carcinoma tissue.
CC {ECO:0000269|PubMed:7490069, ECO:0000269|PubMed:7528047,
CC ECO:0000269|PubMed:9457912}.
CC -!- DISEASE: Monilethrix (MNLIX) [MIM:158000]: A disorder clinically
CC characterized by alopecia and follicular papules. Affected hairs have
CC uniform elliptical nodes of normal thickness and intermittent
CC constrictions, internodes at which the hair easily breaks. Usually only
CC the scalp is involved, but in severe forms, the secondary sexual hair,
CC eyebrows, eyelashes, and nails may also be affected.
CC {ECO:0000269|PubMed:25557232, ECO:0000269|PubMed:9402962,
CC ECO:0000269|PubMed:9665406}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: There are two types of hair/microfibrillar keratin, I
CC (acidic) and II (neutral to basic).
CC -!- SIMILARITY: Belongs to the intermediate filament family.
CC {ECO:0000255|PROSITE-ProRule:PRU01188}.
CC -!- WEB RESOURCE: Name=Human Intermediate Filament Mutation Database;
CC URL="http://www.interfil.org";
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DR EMBL; Y13621; CAA73943.1; -; Genomic_DNA.
DR EMBL; AC121757; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC006452; AAH06452.1; -; mRNA.
DR EMBL; BC021241; AAH21241.1; -; mRNA.
DR EMBL; BC117465; AAI17466.1; -; mRNA.
DR EMBL; BC117467; AAI17468.1; -; mRNA.
DR EMBL; X81420; CAA57180.1; -; mRNA.
DR EMBL; X80197; CAA56488.1; -; mRNA.
DR EMBL; S75796; AAB32813.1; -; Genomic_DNA.
DR CCDS; CCDS31805.1; -.
DR PIR; I38025; I38025.
DR RefSeq; NP_002272.2; NM_002281.3.
DR AlphaFoldDB; Q14533; -.
DR SMR; Q14533; -.
DR BioGRID; 110085; 65.
DR IntAct; Q14533; 38.
DR MINT; Q14533; -.
DR STRING; 9606.ENSP00000369349; -.
DR ChEMBL; CHEMBL4523292; -.
DR iPTMnet; Q14533; -.
DR PhosphoSitePlus; Q14533; -.
DR SwissPalm; Q14533; -.
DR BioMuta; KRT81; -.
DR DMDM; 311033435; -.
DR EPD; Q14533; -.
DR jPOST; Q14533; -.
DR MassIVE; Q14533; -.
DR PaxDb; Q14533; -.
DR PeptideAtlas; Q14533; -.
DR PRIDE; Q14533; -.
DR ProteomicsDB; 60033; -.
DR Antibodypedia; 26561; 225 antibodies from 28 providers.
DR DNASU; 3887; -.
DR Ensembl; ENST00000327741.9; ENSP00000369349.4; ENSG00000205426.11.
DR GeneID; 3887; -.
DR KEGG; hsa:3887; -.
DR MANE-Select; ENST00000327741.9; ENSP00000369349.4; NM_002281.4; NP_002272.2.
DR UCSC; uc001sab.4; human.
DR CTD; 3887; -.
DR DisGeNET; 3887; -.
DR GeneCards; KRT81; -.
DR HGNC; HGNC:6458; KRT81.
DR HPA; ENSG00000205426; Tissue enriched (skin).
DR MalaCards; KRT81; -.
DR MIM; 158000; phenotype.
DR MIM; 602153; gene.
DR neXtProt; NX_Q14533; -.
DR OpenTargets; ENSG00000205426; -.
DR Orphanet; 573; Monilethrix.
DR PharmGKB; PA30247; -.
DR VEuPathDB; HostDB:ENSG00000205426; -.
DR eggNOG; ENOG502SKJW; Eukaryota.
DR GeneTree; ENSGT00940000161838; -.
DR InParanoid; Q14533; -.
DR OMA; CCESHLE; -.
DR OrthoDB; 557821at2759; -.
DR PhylomeDB; Q14533; -.
DR TreeFam; TF317854; -.
DR PathwayCommons; Q14533; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; Q14533; -.
DR BioGRID-ORCS; 3887; 60 hits in 1052 CRISPR screens.
DR GeneWiki; KRT81; -.
DR GenomeRNAi; 3887; -.
DR Pharos; Q14533; Tbio.
DR PRO; PR:Q14533; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q14533; protein.
DR Bgee; ENSG00000205426; Expressed in hair follicle and 114 other tissues.
DR ExpressionAtlas; Q14533; baseline and differential.
DR Genevisible; Q14533; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
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:0045109; P:intermediate filament organization; IBA:GO_Central.
DR GO; GO:0031424; P:keratinization; IBA:GO_Central.
DR InterPro; IPR018039; IF_conserved.
DR InterPro; IPR039008; IF_rod_dom.
DR InterPro; IPR032444; Keratin_2_head.
DR InterPro; IPR003054; Keratin_II.
DR Pfam; PF00038; Filament; 1.
DR Pfam; PF16208; Keratin_2_head; 1.
DR PRINTS; PR01276; TYPE2KERATIN.
DR SMART; SM01391; Filament; 1.
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; Isopeptide bond;
KW Keratin; Reference proteome; Ubl conjugation.
FT CHAIN 1..505
FT /note="Keratin, type II cuticular Hb1"
FT /id="PRO_0000063696"
FT DOMAIN 106..417
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..106
FT /note="Head"
FT REGION 107..141
FT /note="Coil 1A"
FT REGION 142..151
FT /note="Linker 1"
FT REGION 152..252
FT /note="Coil 1B"
FT REGION 253..269
FT /note="Linker 12"
FT REGION 270..413
FT /note="Coil 2"
FT REGION 414..505
FT /note="Tail"
FT CROSSLNK 212
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO1)"
FT /evidence="ECO:0000250|UniProtKB:P78386"
FT VARIANT 52
FT /note="G -> R (in dbSNP:rs2071588)"
FT /id="VAR_018113"
FT VARIANT 248
FT /note="L -> R (in dbSNP:rs6580873)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:7556444, ECO:0000269|PubMed:9457912"
FT /id="VAR_018114"
FT VARIANT 316
FT /note="R -> C (in dbSNP:rs4761786)"
FT /id="VAR_018115"
FT VARIANT 402
FT /note="E -> K (in MNLIX; dbSNP:rs56821304)"
FT /evidence="ECO:0000269|PubMed:9665406"
FT /id="VAR_018116"
FT VARIANT 408
FT /note="R -> C (in MNLIX; dbSNP:rs771393943)"
FT /evidence="ECO:0000269|PubMed:25557232"
FT /id="VAR_073048"
FT VARIANT 413
FT /note="E -> K (in MNLIX; dbSNP:rs57419521)"
FT /evidence="ECO:0000269|PubMed:9402962"
FT /id="VAR_018117"
FT CONFLICT 139
FT /note="Q -> P (in Ref. 3; AAI17468/AAI17466)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 505 AA; 54928 MW; 6CD174038C3B6C27 CRC64;
MTCGSGFGGR AFSCISACGP RPGRCCITAA PYRGISCYRG LTGGFGSHSV CGGFRAGSCG
RSFGYRSGGV CGPSPPCITT VSVNESLLTP LNLEIDPNAQ CVKQEEKEQI KSLNSRFAAF
IDKVRFLEQQ NKLLETKLQF YQNRECCQSN LEPLFEGYIE TLRREAECVE ADSGRLASEL
NHVQEVLEGY KKKYEEEVSL RATAENEFVA LKKDVDCAYL RKSDLEANVE ALIQEIDFLR
RLYEEEILIL QSHISDTSVV VKLDNSRDLN MDCIIAEIKA QYDDIVTRSR AEAESWYRSK
CEEMKATVIR HGETLRRTKE EINELNRMIQ RLTAEVENAK CQNSKLEAAV AQSEQQGEAA
LSDARCKLAE LEGALQKAKQ DMACLIREYQ EVMNSKLGLD IEIATYRRLL EGEEQRLCEG
IGAVNVCVSS SRGGVVCGDL CVSGSRPVTG SVCSAPCNGN VAVSTGLCAP CGQLNTTCGG
GSCGVGSCGI SSLGVGSCGS SCRKC
