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Keratin, type I cuticular Ha2 (Hair keratin, type I Ha2) (Keratin-32) (K32)

 K1H2_HUMAN              Reviewed;         448 AA.
Q14532;
15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
02-NOV-2010, sequence version 3.
12-SEP-2018, entry version 139.
RecName: Full=Keratin, type I cuticular Ha2;
AltName: Full=Hair keratin, type I Ha2;
AltName: Full=Keratin-32;
Short=K32;
Name=KRT32; Synonyms=HHA2, HKA2, KRTHA2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ASP-151; SER-402 AND
THR-427.
TISSUE=Hair;
PubMed=8823373; DOI=10.1111/1523-1747.ep12584243;
Rogers M.A., Winter H., Langbein L., Krieg T., Schweizer J.;
"Genomic characterization of the human type I cuticular hair keratin
hHa2 and identification of an adjacent novel type I hair keratin gene
hHa5.";
J. Invest. Dermatol. 107:633-638(1996).
[2]
SEQUENCE REVISION TO N-TERMINUS.
Rogers M.A.;
Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16625196; DOI=10.1038/nature04689;
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
"DNA sequence of human chromosome 17 and analysis of rearrangement in
the human lineage.";
Nature 440:1045-1049(2006).
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 35-448, AND VARIANTS ASP-151; SER-402
AND THR-427.
TISSUE=Hair;
PubMed=7556444; DOI=10.1006/excr.1995.1326;
Rogers M.A., Nischt R., Korge B., Krieg T., Fink T.M., Lichter P.,
Winter H., Schweizer J.;
"Sequence data and chromosomal localization of human type I and type
II hair keratin genes.";
Exp. Cell Res. 220:357-362(1995).
[5]
VARIANT LYS-89.
PubMed=23033978; DOI=10.1056/NEJMoa1206524;
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P.,
Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B.,
Brunner H.G., Veltman J.A., Vissers L.E.;
"Diagnostic exome sequencing in persons with severe intellectual
disability.";
N. Engl. J. Med. 367:1921-1929(2012).
-!- TISSUE SPECIFICITY: Restricted to the hair cuticle.
-!- MISCELLANEOUS: There are two types of hair/microfibrillar keratin,
I (acidic) and II (neutral to basic).
-!- SIMILARITY: Belongs to the intermediate filament family.
{ECO:0000255|PROSITE-ProRule:PRU01188}.
-!- SEQUENCE CAUTION:
Sequence=CAA57179.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution (CC BY 4.0) License
-----------------------------------------------------------------------
EMBL; X90761; CAA62284.1; -; Genomic_DNA.
EMBL; AC019349; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; X81419; CAA57179.1; ALT_INIT; mRNA.
CCDS; CCDS11393.1; -.
RefSeq; NP_002269.3; NM_002278.3.
UniGene; Hs.41752; -.
ProteinModelPortal; Q14532; -.
SMR; Q14532; -.
BioGrid; 110080; 5.
IntAct; Q14532; 10.
iPTMnet; Q14532; -.
PhosphoSitePlus; Q14532; -.
BioMuta; KRT32; -.
DMDM; 311033432; -.
PaxDb; Q14532; -.
PeptideAtlas; Q14532; -.
PRIDE; Q14532; -.
ProteomicsDB; 12647; -.
ProteomicsDB; 60032; -.
DNASU; 3882; -.
Ensembl; ENST00000225899; ENSP00000225899; ENSG00000108759.
GeneID; 3882; -.
KEGG; hsa:3882; -.
UCSC; uc002hwr.4; human.
CTD; 3882; -.
DisGeNET; 3882; -.
EuPathDB; HostDB:ENSG00000108759.3; -.
GeneCards; KRT32; -.
H-InvDB; HIX0202544; -.
HGNC; HGNC:6449; KRT32.
MIM; 602760; gene.
neXtProt; NX_Q14532; -.
OpenTargets; ENSG00000108759; -.
PharmGKB; PA30238; -.
eggNOG; ENOG410IJCJ; Eukaryota.
eggNOG; ENOG410YK2A; LUCA.
GeneTree; ENSGT00900000140814; -.
HOGENOM; HOG000230975; -.
HOVERGEN; HBG013015; -.
InParanoid; Q14532; -.
KO; K07604; -.
OMA; NCRPELC; -.
OrthoDB; EOG091G087I; -.
PhylomeDB; Q14532; -.
TreeFam; TF332742; -.
Reactome; R-HSA-6805567; Keratinization.
Reactome; R-HSA-6809371; Formation of the cornified envelope.
ChiTaRS; KRT32; human.
GeneWiki; KRT32; -.
GenomeRNAi; 3882; -.
PRO; PR:Q14532; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000108759; Expressed in 35 organ(s), highest expression level in hair follicle.
CleanEx; HS_KRT32; -.
Genevisible; Q14532; HS.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
GO; GO:0005198; F:structural molecule activity; IEA:InterPro.
GO; GO:0070268; P:cornification; TAS:Reactome.
GO; GO:0008544; P:epidermis development; TAS:ProtInc.
GO; GO:0031424; P:keratinization; TAS:Reactome.
InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
InterPro; IPR001664; IF.
InterPro; IPR018039; IF_conserved.
InterPro; IPR039008; IF_rod_dom.
InterPro; IPR002957; Keratin_I.
PANTHER; PTHR23239; PTHR23239; 1.
Pfam; PF00038; Filament; 1.
PRINTS; PR01248; TYPE1KERATIN.
SMART; SM01391; Filament; 1.
SUPFAM; SSF57184; SSF57184; 2.
PROSITE; PS00226; IF_ROD_1; 1.
PROSITE; PS51842; IF_ROD_2; 1.
2: Evidence at transcript level;
Coiled coil; Complete proteome; Intermediate filament; Keratin;
Polymorphism; Reference proteome.
CHAIN 1 448 Keratin, type I cuticular Ha2.
/FTId=PRO_0000063686.
DOMAIN 96 407 IF rod. {ECO:0000255|PROSITE-
ProRule:PRU01188}.
REGION 1 96 Head.
REGION 97 131 Coil 1A.
REGION 132 142 Linker 1.
REGION 143 243 Coil 1B.
REGION 244 259 Linker 12.
REGION 260 403 Coil 2.
REGION 404 448 Tail.
SITE 345 345 Stutter.
VARIANT 72 72 Q -> R (in dbSNP:rs3744786).
/FTId=VAR_056011.
VARIANT 89 89 E -> K (in dbSNP:rs565998951).
{ECO:0000269|PubMed:23033978}.
/FTId=VAR_069391.
VARIANT 151 151 E -> D (in dbSNP:rs1111168).
{ECO:0000269|PubMed:7556444,
ECO:0000269|PubMed:8823373}.
/FTId=VAR_060237.
VARIANT 171 171 I -> T (in dbSNP:rs2071560).
/FTId=VAR_056012.
VARIANT 222 222 S -> Y (in dbSNP:rs2071561).
/FTId=VAR_056013.
VARIANT 280 280 R -> H (in dbSNP:rs72830046).
/FTId=VAR_060238.
VARIANT 339 339 T -> M (in dbSNP:rs16966929).
/FTId=VAR_056014.
VARIANT 395 395 T -> M (in dbSNP:rs2071563).
/FTId=VAR_056015.
VARIANT 402 402 N -> S (in dbSNP:rs2604955).
{ECO:0000269|PubMed:7556444,
ECO:0000269|PubMed:8823373}.
/FTId=VAR_060239.
VARIANT 427 427 P -> T (in dbSNP:rs2604953).
{ECO:0000269|PubMed:7556444,
ECO:0000269|PubMed:8823373}.
/FTId=VAR_060240.
VARIANT 428 428 R -> C (in dbSNP:rs9893787).
/FTId=VAR_056016.
CONFLICT 152 152 E -> Q (in Ref. 1; CAA62284 and 4;
CAA57179). {ECO:0000305}.
CONFLICT 371 371 D -> E (in Ref. 1; CAA62284 and 4;
CAA57179). {ECO:0000305}.
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


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