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   24-JAN-2024, entry version 170.
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       Q14532; PRO_0000449633 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-1044146, EBI-25492395;
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   AlphaFoldDB; Q14532; -.
DR   SMR; Q14532; -.
DR   BioGRID; 110080; 35.
DR   IntAct; Q14532; 15.
DR   MINT; Q14532; -.
DR   STRING; 9606.ENSP00000225899; -.
DR   iPTMnet; Q14532; -.
DR   PhosphoSitePlus; Q14532; -.
DR   SwissPalm; Q14532; -.
DR   BioMuta; KRT32; -.
DR   DMDM; 311033432; -.
DR   jPOST; Q14532; -.
DR   MassIVE; Q14532; -.
DR   PaxDb; 9606-ENSP00000225899; -.
DR   PeptideAtlas; Q14532; -.
DR   PRIDE; Q14532; -.
DR   ProteomicsDB; 60032; -.
DR   Antibodypedia; 28850; 65 antibodies from 15 providers.
DR   DNASU; 3882; -.
DR   Ensembl; ENST00000225899.4; ENSP00000225899.3; ENSG00000108759.4.
DR   GeneID; 3882; -.
DR   KEGG; hsa:3882; -.
DR   MANE-Select; ENST00000225899.4; ENSP00000225899.3; NM_002278.3; NP_002269.3.
DR   UCSC; uc002hwr.4; human.
DR   AGR; HGNC:6449; -.
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; -.
DR   eggNOG; ENOG502SJJS; Eukaryota.
DR   GeneTree; ENSGT00940000161991; -.
DR   HOGENOM; CLU_012560_8_0_1; -.
DR   InParanoid; Q14532; -.
DR   OMA; WYSEGAF; -.
DR   OrthoDB; 4640531at2759; -.
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   SignaLink; Q14532; -.
DR   BioGRID-ORCS; 3882; 6 hits in 1139 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 cell types or tissues.
DR   GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
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:0008544; P:epidermis development; TAS:ProtInc.
DR   GO; GO:0030855; P:epithelial cell differentiation; IBA:GO_Central.
DR   GO; GO:0045109; P:intermediate filament organization; 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; IPR009030; Growth_fac_rcpt_cys_sf.
DR   InterPro; IPR018039; IF_conserved.
DR   InterPro; IPR039008; IF_rod_dom.
DR   InterPro; IPR002957; Keratin_I.
DR   PANTHER; PTHR23239; INTERMEDIATE FILAMENT; 1.
DR   PANTHER; PTHR23239:SF155; KERATIN, TYPE I CUTICULAR HA2; 1.
DR   Pfam; PF00038; Filament; 1.
DR   PRINTS; PR01248; TYPE1KERATIN.
DR   SMART; SM01391; Filament; 1.
DR   SUPFAM; SSF57184; Growth factor receptor domain; 1.
DR   SUPFAM; SSF64593; Intermediate filament protein, coiled coil region; 2.
DR   PROSITE; PS00226; IF_ROD_1; 1.
DR   PROSITE; PS51842; IF_ROD_2; 1.
DR   Genevisible; Q14532; HS.
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
//