K1H2_HUMAN
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 03-AUG-2022, entry version 162.
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};
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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; 31.
DR IntAct; Q14532; 12.
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; 60032; -.
DR Antibodypedia; 28850; 53 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 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; 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 SignaLink; Q14532; -.
DR BioGRID-ORCS; 3882; 6 hits in 1062 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 43 other tissues.
DR Genevisible; Q14532; HS.
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 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; 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
