KRA81_HUMAN
ID KRA81_HUMAN Reviewed; 63 AA.
AC Q8IUC2; Q3LI57;
DT 27-JUN-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Keratin-associated protein 8-1;
DE AltName: Full=High glycine-tyrosine keratin-associated protein 8.1;
GN Name=KRTAP8-1; Synonyms=KAP8.1, KRTAP8.1;
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 [MRNA].
RC TISSUE=Scalp;
RX PubMed=12359730; DOI=10.1074/jbc.m206422200;
RA Rogers M.A., Langbein L., Winter H., Ehmann C., Praetzel S., Schweizer J.;
RT "Characterization of a first domain of human high glycine-tyrosine and high
RT sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1.";
RL J. Biol. Chem. 277:48993-49002(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Hair root;
RX PubMed=15028290; DOI=10.1016/j.ygeno.2003.09.024;
RA Shibuya K., Obayashi I., Asakawa S., Minoshima S., Kudoh J., Shimizu N.;
RT "A cluster of 21 keratin-associated protein genes within introns of another
RT gene on human chromosome 21q22.3.";
RL Genomics 83:679-693(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
CC -!- FUNCTION: In the hair cortex, hair keratin intermediate filaments are
CC embedded in an interfilamentous matrix, consisting of hair keratin-
CC associated proteins (KRTAP), which are essential for the formation of a
CC rigid and resistant hair shaft through their extensive disulfide bond
CC cross-linking with abundant cysteine residues of hair keratins. The
CC matrix proteins include the high-sulfur and high-glycine-tyrosine
CC keratins.
CC -!- SUBUNIT: Interacts with hair keratins.
CC -!- INTERACTION:
CC Q8IUC2; P01023: A2M; NbExp=3; IntAct=EBI-10261141, EBI-640741;
CC Q8IUC2; Q16613: AANAT; NbExp=3; IntAct=EBI-10261141, EBI-7451846;
CC Q8IUC2; P21549: AGXT; NbExp=3; IntAct=EBI-10261141, EBI-727098;
CC Q8IUC2; P19801: AOC1; NbExp=3; IntAct=EBI-10261141, EBI-12826295;
CC Q8IUC2; Q92870-2: APBB2; NbExp=3; IntAct=EBI-10261141, EBI-21535880;
CC Q8IUC2; Q03989: ARID5A; NbExp=3; IntAct=EBI-10261141, EBI-948603;
CC Q8IUC2; Q7Z3C6-3: ATG9A; NbExp=3; IntAct=EBI-10261141, EBI-12006308;
CC Q8IUC2; Q86V38: ATN1; NbExp=3; IntAct=EBI-10261141, EBI-11954292;
CC Q8IUC2; P54253: ATXN1; NbExp=6; IntAct=EBI-10261141, EBI-930964;
CC Q8IUC2; P0C7T5: ATXN1L; NbExp=3; IntAct=EBI-10261141, EBI-8624731;
CC Q8IUC2; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-10261141, EBI-11524452;
CC Q8IUC2; O75934: BCAS2; NbExp=3; IntAct=EBI-10261141, EBI-1050106;
CC Q8IUC2; O14503: BHLHE40; NbExp=3; IntAct=EBI-10261141, EBI-711810;
CC Q8IUC2; Q6P1W5: C1orf94; NbExp=3; IntAct=EBI-10261141, EBI-946029;
CC Q8IUC2; Q9H1P6: C20orf85; NbExp=3; IntAct=EBI-10261141, EBI-12155483;
CC Q8IUC2; Q9UQM7: CAMK2A; NbExp=3; IntAct=EBI-10261141, EBI-1383687;
CC Q8IUC2; Q96LX7-5: CCDC17; NbExp=3; IntAct=EBI-10261141, EBI-12165781;
CC Q8IUC2; O75909-2: CCNK; NbExp=3; IntAct=EBI-10261141, EBI-12010594;
CC Q8IUC2; P32320: CDA; NbExp=3; IntAct=EBI-10261141, EBI-9250559;
CC Q8IUC2; Q5T4B2: CERCAM; NbExp=3; IntAct=EBI-10261141, EBI-12261896;
CC Q8IUC2; P28329-3: CHAT; NbExp=3; IntAct=EBI-10261141, EBI-25837549;
CC Q8IUC2; Q02930-3: CREB5; NbExp=3; IntAct=EBI-10261141, EBI-10192698;
CC Q8IUC2; P02489: CRYAA; NbExp=3; IntAct=EBI-10261141, EBI-6875961;
CC Q8IUC2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10261141, EBI-3867333;
CC Q8IUC2; O75553: DAB1; NbExp=3; IntAct=EBI-10261141, EBI-7875264;
CC Q8IUC2; Q15038: DAZAP2; NbExp=6; IntAct=EBI-10261141, EBI-724310;
CC Q8IUC2; Q96MA1: DMRTB1; NbExp=3; IntAct=EBI-10261141, EBI-954466;
CC Q8IUC2; P50570-2: DNM2; NbExp=3; IntAct=EBI-10261141, EBI-10968534;
CC Q8IUC2; Q86UW9: DTX2; NbExp=3; IntAct=EBI-10261141, EBI-740376;
CC Q8IUC2; Q6NZ36-4: FAAP20; NbExp=3; IntAct=EBI-10261141, EBI-12013806;
CC Q8IUC2; Q92567-2: FAM168A; NbExp=3; IntAct=EBI-10261141, EBI-11978259;
CC Q8IUC2; Q86UY5: FAM83A; NbExp=3; IntAct=EBI-10261141, EBI-1384254;
CC Q8IUC2; P22607: FGFR3; NbExp=3; IntAct=EBI-10261141, EBI-348399;
CC Q8IUC2; O60548: FOXD2; NbExp=3; IntAct=EBI-10261141, EBI-17282008;
CC Q8IUC2; Q9BZS1: FOXP3; NbExp=3; IntAct=EBI-10261141, EBI-983719;
CC Q8IUC2; P23769: GATA2; NbExp=3; IntAct=EBI-10261141, EBI-2806671;
CC Q8IUC2; O75603: GCM2; NbExp=3; IntAct=EBI-10261141, EBI-10188645;
CC Q8IUC2; Q8TB36: GDAP1; NbExp=3; IntAct=EBI-10261141, EBI-11110431;
CC Q8IUC2; Q9BZE0: GLIS2; NbExp=3; IntAct=EBI-10261141, EBI-7251368;
CC Q8IUC2; P28799: GRN; NbExp=3; IntAct=EBI-10261141, EBI-747754;
CC Q8IUC2; A0A024R5S0: hCG_2003792; NbExp=3; IntAct=EBI-10261141, EBI-10188461;
CC Q8IUC2; V9HW27: HEL-S-101; NbExp=3; IntAct=EBI-10261141, EBI-10178933;
CC Q8IUC2; Q9UBP5: HEY2; NbExp=3; IntAct=EBI-10261141, EBI-750630;
CC Q8IUC2; P31273: HOXC8; NbExp=3; IntAct=EBI-10261141, EBI-1752118;
CC Q8IUC2; P04792: HSPB1; NbExp=3; IntAct=EBI-10261141, EBI-352682;
CC Q8IUC2; P42858: HTT; NbExp=6; IntAct=EBI-10261141, EBI-466029;
CC Q8IUC2; O60333-2: KIF1B; NbExp=3; IntAct=EBI-10261141, EBI-10975473;
CC Q8IUC2; Q92876: KLK6; NbExp=3; IntAct=EBI-10261141, EBI-2432309;
CC Q8IUC2; P60329: KRTAP12-4; NbExp=3; IntAct=EBI-10261141, EBI-10176396;
CC Q8IUC2; Q3LI72: KRTAP19-5; NbExp=3; IntAct=EBI-10261141, EBI-1048945;
CC Q8IUC2; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-10261141, EBI-3957672;
CC Q8IUC2; P51608: MECP2; NbExp=3; IntAct=EBI-10261141, EBI-1189067;
CC Q8IUC2; Q14CX5: MFSD13A; NbExp=3; IntAct=EBI-10261141, EBI-12120958;
CC Q8IUC2; Q13064: MKRN3; NbExp=3; IntAct=EBI-10261141, EBI-2340269;
CC Q8IUC2; Q8TDC0: MYOZ3; NbExp=5; IntAct=EBI-10261141, EBI-5662487;
CC Q8IUC2; P07196: NEFL; NbExp=3; IntAct=EBI-10261141, EBI-475646;
CC Q8IUC2; P52952: NKX2-5; NbExp=3; IntAct=EBI-10261141, EBI-936601;
CC Q8IUC2; Q86UR1-2: NOXA1; NbExp=3; IntAct=EBI-10261141, EBI-12025760;
CC Q8IUC2; Q7Z4N8: P4HA3; NbExp=3; IntAct=EBI-10261141, EBI-10181968;
CC Q8IUC2; P23760-8: PAX3; NbExp=3; IntAct=EBI-10261141, EBI-12105196;
CC Q8IUC2; Q7Z412: PEX26; NbExp=3; IntAct=EBI-10261141, EBI-752057;
CC Q8IUC2; P78337: PITX1; NbExp=3; IntAct=EBI-10261141, EBI-748265;
CC Q8IUC2; Q9NRQ2: PLSCR4; NbExp=3; IntAct=EBI-10261141, EBI-769257;
CC Q8IUC2; D3DTS7: PMP22; NbExp=3; IntAct=EBI-10261141, EBI-25882629;
CC Q8IUC2; Q7Z3K3: POGZ; NbExp=5; IntAct=EBI-10261141, EBI-1389308;
CC Q8IUC2; P78424: POU6F2; NbExp=3; IntAct=EBI-10261141, EBI-12029004;
CC Q8IUC2; Q7Z5V6-2: PPP1R32; NbExp=3; IntAct=EBI-10261141, EBI-12000762;
CC Q8IUC2; O75360: PROP1; NbExp=3; IntAct=EBI-10261141, EBI-9027467;
CC Q8IUC2; Q9NZ81: PRR13; NbExp=3; IntAct=EBI-10261141, EBI-740924;
CC Q8IUC2; P0CG20: PRR35; NbExp=3; IntAct=EBI-10261141, EBI-11986293;
CC Q8IUC2; P25788: PSMA3; NbExp=3; IntAct=EBI-10261141, EBI-348380;
CC Q8IUC2; Q9BTL3: RAMAC; NbExp=3; IntAct=EBI-10261141, EBI-744023;
CC Q8IUC2; Q93062: RBPMS; NbExp=3; IntAct=EBI-10261141, EBI-740322;
CC Q8IUC2; Q6ZRY4: RBPMS2; NbExp=5; IntAct=EBI-10261141, EBI-11987469;
CC Q8IUC2; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-10261141, EBI-396669;
CC Q8IUC2; Q9H0F5: RNF38; NbExp=3; IntAct=EBI-10261141, EBI-2341200;
CC Q8IUC2; Q9BVN2: RUSC1; NbExp=3; IntAct=EBI-10261141, EBI-6257312;
CC Q8IUC2; Q16637: SMN2; NbExp=3; IntAct=EBI-10261141, EBI-395421;
CC Q8IUC2; Q99954: SMR3A; NbExp=3; IntAct=EBI-10261141, EBI-12067698;
CC Q8IUC2; Q53HV7-2: SMUG1; NbExp=3; IntAct=EBI-10261141, EBI-12275818;
CC Q8IUC2; P09234: SNRPC; NbExp=3; IntAct=EBI-10261141, EBI-766589;
CC Q8IUC2; O95935: TBX18; NbExp=3; IntAct=EBI-10261141, EBI-12085364;
CC Q8IUC2; Q9BXF9: TEKT3; NbExp=3; IntAct=EBI-10261141, EBI-8644516;
CC Q8IUC2; Q01085-2: TIAL1; NbExp=3; IntAct=EBI-10261141, EBI-11064654;
CC Q8IUC2; Q08117-2: TLE5; NbExp=3; IntAct=EBI-10261141, EBI-11741437;
CC Q8IUC2; O43711: TLX3; NbExp=3; IntAct=EBI-10261141, EBI-3939165;
CC Q8IUC2; P62328: TMSB4X; NbExp=3; IntAct=EBI-10261141, EBI-712598;
CC Q8IUC2; Q15025: TNIP1; NbExp=3; IntAct=EBI-10261141, EBI-357849;
CC Q8IUC2; O14787-2: TNPO2; NbExp=3; IntAct=EBI-10261141, EBI-12076664;
CC Q8IUC2; Q8N831: TSPYL6; NbExp=3; IntAct=EBI-10261141, EBI-12023322;
CC Q8IUC2; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-10261141, EBI-741480;
CC Q8IUC2; O95231: VENTX; NbExp=3; IntAct=EBI-10261141, EBI-10191303;
CC Q8IUC2; Q14119: VEZF1; NbExp=3; IntAct=EBI-10261141, EBI-11980193;
CC Q8IUC2; O76024: WFS1; NbExp=3; IntAct=EBI-10261141, EBI-720609;
CC Q8IUC2; Q9BYJ9: YTHDF1; NbExp=3; IntAct=EBI-10261141, EBI-1051237;
CC Q8IUC2; A0A0C4DGF1: ZBTB32; NbExp=3; IntAct=EBI-10261141, EBI-10188476;
CC Q8IUC2; Q96K80: ZC3H10; NbExp=3; IntAct=EBI-10261141, EBI-742550;
CC Q8IUC2; Q15915: ZIC1; NbExp=5; IntAct=EBI-10261141, EBI-11963196;
CC -!- TISSUE SPECIFICITY: Is essentially restricted to only one vertical half
CC of the hair forming compartment and in beard hairs is absent from the
CC central medulla.
CC -!- SIMILARITY: Belongs to the KRTAP type 8 family. {ECO:0000305}.
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DR EMBL; AJ457064; CAD29720.1; -; mRNA.
DR EMBL; AB096961; BAE46376.1; -; mRNA.
DR EMBL; AP000244; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471079; EAX09896.1; -; Genomic_DNA.
DR EMBL; BC130397; AAI30398.1; -; mRNA.
DR EMBL; BC133033; AAI33034.1; -; mRNA.
DR CCDS; CCDS13607.1; -.
DR RefSeq; NP_787053.1; NM_175857.3.
DR AlphaFoldDB; Q8IUC2; -.
DR BioGRID; 130625; 78.
DR IntAct; Q8IUC2; 98.
DR STRING; 9606.ENSP00000332805; -.
DR BioMuta; KRTAP8-1; -.
DR DMDM; 32363185; -.
DR MassIVE; Q8IUC2; -.
DR PaxDb; Q8IUC2; -.
DR PeptideAtlas; Q8IUC2; -.
DR PRIDE; Q8IUC2; -.
DR Antibodypedia; 6687; 55 antibodies from 13 providers.
DR DNASU; 337879; -.
DR Ensembl; ENST00000329621.6; ENSP00000332805.4; ENSG00000183640.6.
DR GeneID; 337879; -.
DR KEGG; hsa:337879; -.
DR MANE-Select; ENST00000329621.6; ENSP00000332805.4; NM_175857.4; NP_787053.1.
DR UCSC; uc002you.3; human.
DR CTD; 337879; -.
DR DisGeNET; 337879; -.
DR GeneCards; KRTAP8-1; -.
DR HGNC; HGNC:18935; KRTAP8-1.
DR HPA; ENSG00000183640; Tissue enriched (skin).
DR neXtProt; NX_Q8IUC2; -.
DR PharmGKB; PA134918132; -.
DR VEuPathDB; HostDB:ENSG00000183640; -.
DR eggNOG; ENOG502SW61; Eukaryota.
DR GeneTree; ENSGT00530000064274; -.
DR HOGENOM; CLU_3019710_0_0_1; -.
DR InParanoid; Q8IUC2; -.
DR OMA; RRYWPYA; -.
DR OrthoDB; 1624842at2759; -.
DR PhylomeDB; Q8IUC2; -.
DR TreeFam; TF338337; -.
DR PathwayCommons; Q8IUC2; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q8IUC2; -.
DR BioGRID-ORCS; 337879; 11 hits in 1060 CRISPR screens.
DR GenomeRNAi; 337879; -.
DR Pharos; Q8IUC2; Tbio.
DR PRO; PR:Q8IUC2; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q8IUC2; protein.
DR Bgee; ENSG00000183640; Expressed in upper leg skin and 51 other tissues.
DR Genevisible; Q8IUC2; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
DR InterPro; IPR039351; KRTAP8-1.
DR InterPro; IPR021743; KRTAP_type6/8/16/19/20/21.
DR PANTHER; PTHR36131; PTHR36131; 1.
DR Pfam; PF11759; KRTAP; 1.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..63
FT /note="Keratin-associated protein 8-1"
FT /id="PRO_0000185185"
FT REGION 12..54
FT /note="12 X 2 AA repeats of G-[YCGS]"
SQ SEQUENCE 63 AA; 6826 MW; 4D967085A15D295F CRC64;
MLCDNFPGAV FPGCYWGSYG YPLGYSVGCG YGSTYSPVGY GFGYGYNGCG AFGYRRYSPF
ALY
