ID K1H2_HUMAN Reviewed; 448 AA. AC Q14532; DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot. DT 02-NOV-2010, sequence version 3. DT 07-APR-2021, entry version 158. DE RecName: Full=Keratin, type I cuticular Ha2; DE AltName: Full=Hair keratin, type I Ha2; DE AltName: Full=Keratin-32; DE Short=K32; GN Name=KRT32; Synonyms=HHA2, HKA2, KRTHA2; 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], AND VARIANTS ASP-151; SER-402 AND RP THR-427. RC TISSUE=Hair; RX PubMed=8823373; DOI=10.1111/1523-1747.ep12584243; RA Rogers M.A., Winter H., Langbein L., Krieg T., Schweizer J.; RT "Genomic characterization of the human type I cuticular hair keratin hHa2 RT and identification of an adjacent novel type I hair keratin gene hHa5."; RL J. Invest. Dermatol. 107:633-638(1996). RN [2] RP SEQUENCE REVISION TO N-TERMINUS. RA Rogers M.A.; RL Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16625196; DOI=10.1038/nature04689; RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.; RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the RT human lineage."; RL Nature 440:1045-1049(2006). RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] OF 35-448, AND VARIANTS ASP-151; SER-402 AND RP THR-427. RC TISSUE=Hair; 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 VARIANT LYS-89. RX PubMed=23033978; DOI=10.1056/nejmoa1206524; RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., RA Veltman J.A., Vissers L.E.; RT "Diagnostic exome sequencing in persons with severe intellectual RT disability."; RL N. Engl. J. Med. 367:1921-1929(2012). CC -!- INTERACTION: CC Q14532; Q86YP4: GATAD2A; NbExp=3; IntAct=EBI-1044146, EBI-726224; CC Q14532; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-1044146, EBI-14069005; CC Q14532; Q14CN4: KRT72; NbExp=3; IntAct=EBI-1044146, EBI-1221280; CC Q14532; Q6KB66-2: KRT80; NbExp=4; IntAct=EBI-1044146, EBI-11999246; CC Q14532; O43790: KRT86; NbExp=3; IntAct=EBI-1044146, EBI-9996498; CC Q14532; Q8IVT4: MGC50722; NbExp=3; IntAct=EBI-1044146, EBI-14086479; CC Q14532; Q14511-2: NEDD9; NbExp=3; IntAct=EBI-1044146, EBI-11746523; CC Q14532; Q9BT92: TCHP; NbExp=3; IntAct=EBI-1044146, EBI-740781; CC Q14532; P57075-2: UBASH3A; NbExp=3; IntAct=EBI-1044146, EBI-7353612; CC -!- TISSUE SPECIFICITY: Restricted to the hair cuticle. 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 -!- SEQUENCE CAUTION: CC Sequence=CAA57179.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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; X90761; CAA62284.1; -; Genomic_DNA. DR EMBL; AC019349; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; X81419; CAA57179.1; ALT_INIT; mRNA. DR CCDS; CCDS11393.1; -. DR RefSeq; NP_002269.3; NM_002278.3. DR SMR; Q14532; -. DR BioGRID; 110080; 18. DR IntAct; Q14532; 11. DR STRING; 9606.ENSP00000225899; -. DR iPTMnet; Q14532; -. DR PhosphoSitePlus; Q14532; -. DR BioMuta; KRT32; -. DR DMDM; 311033432; -. DR jPOST; Q14532; -. DR MassIVE; Q14532; -. DR PaxDb; Q14532; -. DR PeptideAtlas; Q14532; -. DR PRIDE; Q14532; -. DR ProteomicsDB; 12647; -. DR ProteomicsDB; 60032; -. DR Antibodypedia; 28850; 53 antibodies. DR DNASU; 3882; -. DR Ensembl; ENST00000225899; ENSP00000225899; ENSG00000108759. DR GeneID; 3882; -. DR KEGG; hsa:3882; -. DR UCSC; uc002hwr.4; human. DR CTD; 3882; -. DR DisGeNET; 3882; -. DR GeneCards; KRT32; -. DR HGNC; HGNC:6449; KRT32. DR HPA; ENSG00000108759; Group enriched (esophagus, skin). DR MIM; 602760; gene. DR neXtProt; NX_Q14532; -. DR OpenTargets; ENSG00000108759; -. DR PharmGKB; PA30238; -. DR VEuPathDB; HostDB:ENSG00000108759.3; -. DR eggNOG; ENOG502SJJS; Eukaryota. DR GeneTree; ENSGT00940000161991; -. DR HOGENOM; CLU_012560_8_0_1; -. DR InParanoid; Q14532; -. DR OMA; WYSEGAF; -. DR OrthoDB; 798081at2759; -. DR PhylomeDB; Q14532; -. DR TreeFam; TF332742; -. DR PathwayCommons; Q14532; -. DR Reactome; R-HSA-6805567; Keratinization. DR Reactome; R-HSA-6809371; Formation of the cornified envelope. DR BioGRID-ORCS; 3882; 4 hits in 981 CRISPR screens. DR ChiTaRS; KRT32; human. DR GeneWiki; KRT32; -. DR GenomeRNAi; 3882; -. DR Pharos; Q14532; Tdark. DR PRO; PR:Q14532; -. DR Proteomes; UP000005640; Chromosome 17. DR RNAct; Q14532; protein. DR Bgee; ENSG00000108759; Expressed in hair follicle and 44 other tissues. DR Genevisible; Q14532; HS. DR GO; GO:0005829; C:cytosol; TAS:Reactome. DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB. DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW. DR GO; GO:0005198; F:structural molecule activity; IEA:InterPro. DR GO; GO:0070268; P:cornification; TAS:Reactome. DR GO; GO:0008544; P:epidermis development; TAS:ProtInc. DR GO; GO:0031424; P:keratinization; TAS:Reactome. DR Gene3D; 1.20.5.1160; -; 1. DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf. DR InterPro; IPR018039; IF_conserved. DR InterPro; IPR039008; IF_rod_dom. DR InterPro; IPR042180; IF_rod_dom_coil1B. DR InterPro; IPR002957; Keratin_I. DR PANTHER; PTHR23239; PTHR23239; 1. DR Pfam; PF00038; Filament; 1. DR PRINTS; PR01248; TYPE1KERATIN. DR SMART; SM01391; Filament; 1. DR SUPFAM; SSF57184; SSF57184; 1. DR PROSITE; PS00226; IF_ROD_1; 1. DR PROSITE; PS51842; IF_ROD_2; 1. PE 1: Evidence at protein level; KW Coiled coil; Intermediate filament; Keratin; Reference proteome. FT CHAIN 1..448 FT /note="Keratin, type I cuticular Ha2" FT /id="PRO_0000063686" FT DOMAIN 96..407 FT /note="IF rod" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188" FT REGION 1..96 FT /note="Head" FT REGION 97..131 FT /note="Coil 1A" FT REGION 132..142 FT /note="Linker 1" FT REGION 143..243 FT /note="Coil 1B" FT REGION 244..259 FT /note="Linker 12" FT REGION 260..403 FT /note="Coil 2" FT REGION 404..448 FT /note="Tail" FT SITE 345 FT /note="Stutter" FT VARIANT 72 FT /note="Q -> R (in dbSNP:rs3744786)" FT /id="VAR_056011" FT VARIANT 89 FT /note="E -> K (in dbSNP:rs565998951)" FT /evidence="ECO:0000269|PubMed:23033978" FT /id="VAR_069391" FT VARIANT 151 FT /note="E -> D (in dbSNP:rs1111168)" FT /evidence="ECO:0000269|PubMed:7556444, FT ECO:0000269|PubMed:8823373" FT /id="VAR_060237" FT VARIANT 171 FT /note="I -> T (in dbSNP:rs2071560)" FT /id="VAR_056012" FT VARIANT 222 FT /note="S -> Y (in dbSNP:rs2071561)" FT /id="VAR_056013" FT VARIANT 280 FT /note="R -> H (in dbSNP:rs72830046)" FT /id="VAR_060238" FT VARIANT 339 FT /note="T -> M (in dbSNP:rs16966929)" FT /id="VAR_056014" FT VARIANT 395 FT /note="T -> M (in dbSNP:rs2071563)" FT /id="VAR_056015" FT VARIANT 402 FT /note="N -> S (in dbSNP:rs2604955)" FT /evidence="ECO:0000269|PubMed:7556444, FT ECO:0000269|PubMed:8823373" FT /id="VAR_060239" FT VARIANT 427 FT /note="P -> T (in dbSNP:rs2604953)" FT /evidence="ECO:0000269|PubMed:7556444, FT ECO:0000269|PubMed:8823373" FT /id="VAR_060240" FT VARIANT 428 FT /note="R -> C (in dbSNP:rs9893787)" FT /id="VAR_056016" FT CONFLICT 152 FT /note="E -> Q (in Ref. 1; CAA62284 and 4; CAA57179)" FT /evidence="ECO:0000305" FT CONFLICT 371 FT /note="D -> E (in Ref. 1; CAA62284 and 4; CAA57179)" FT /evidence="ECO:0000305" SQ SEQUENCE 448 AA; 50343 MW; F223A4F828B7EACB CRC64; MTSSCCVTNN LQASLKSCPR PASVCSSGVN CRPELCLGYV CQPMACLPSV CLPTTFRPAS CLSKTYLSSS CQAASGISGS MGPGSWYSEG AFNGNEKETM QFLNDRLASY LTRVRQLEQE NAELESRIQE ASHSQVLTMT PDYQSHFRTI EELQQKILCT KAENARMVVN IDNAKLAADD FRAKYEAELA MRQLVEADIN GLRRILDDLT LCKADLEAQV ESLKEELMCL KKNHEEEVGS LRCQLGDRLN IEVDAAPPVD LTRVLEEMRC QYEAMVEANR RDVEEWFNMQ MEELNQQVAT SSEQLQNYQS DIIDLRRTVN TLEIELQAQH SLRDSLENTL TESEARYSSQ LAQMQCMITN VEAQLAEIRA DLERQNQEYQ VLLDVRARLE GEINTYRSLL ENEDCKLPCN PCSTPSCTTC VPSPCVPRTV CVPRTVGMPC SPCPQGRY //