KR122_HUMAN
ID KR122_HUMAN Reviewed; 146 AA.
AC P59991; A6NIS1; A6NMS9; Q0VAS4;
DT 07-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 07-NOV-2003, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Keratin-associated protein 12-2;
DE AltName: Full=High sulfur keratin-associated protein 12.2;
DE AltName: Full=Keratin-associated protein 12.2;
GN Name=KRTAP12-2; Synonyms=KAP12.2, KRTAP12.2;
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], AND TISSUE SPECIFICITY.
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 [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Scalp;
RX PubMed=14962103; DOI=10.1046/j.0022-202x.2003.22128.x;
RA Rogers M.A., Langbein L., Winter H., Beckmann I., Praetzel S.,
RA Schweizer J.;
RT "Hair keratin associated proteins: characterization of a second high sulfur
RT KAP gene domain on human chromosome 21.";
RL J. Invest. Dermatol. 122:147-158(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 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 P59991; O43184-4: ADAM12; NbExp=3; IntAct=EBI-10176379, EBI-12006944;
CC P59991; Q03989: ARID5A; NbExp=5; IntAct=EBI-10176379, EBI-948603;
CC P59991; Q86V38: ATN1; NbExp=3; IntAct=EBI-10176379, EBI-11954292;
CC P59991; Q8NEY4-2: ATP6V1C2; NbExp=3; IntAct=EBI-10176379, EBI-10270867;
CC P59991; Q5T686: AVPI1; NbExp=4; IntAct=EBI-10176379, EBI-8640233;
CC P59991; A8KA13: BCL6B; NbExp=3; IntAct=EBI-10176379, EBI-10174813;
CC P59991; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-10176379, EBI-745073;
CC P59991; Q8NEC5: CATSPER1; NbExp=3; IntAct=EBI-10176379, EBI-744545;
CC P59991; Q8N7E2: CBLL2; NbExp=3; IntAct=EBI-10176379, EBI-12196065;
CC P59991; Q14781-2: CBX2; NbExp=3; IntAct=EBI-10176379, EBI-11974585;
CC P59991; Q9UK58: CCNL1; NbExp=3; IntAct=EBI-10176379, EBI-2836773;
CC P59991; Q96S94-5: CCNL2; NbExp=3; IntAct=EBI-10176379, EBI-12024864;
CC P59991; P27918: CFP; NbExp=3; IntAct=EBI-10176379, EBI-9038570;
CC P59991; Q9H2X0: CHRD; NbExp=3; IntAct=EBI-10176379, EBI-947551;
CC P59991; Q8NE01: CNNM3; NbExp=3; IntAct=EBI-10176379, EBI-741032;
CC P59991; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10176379, EBI-3867333;
CC P59991; Q14129: DGCR6; NbExp=3; IntAct=EBI-10176379, EBI-12206931;
CC P59991; Q96LJ7: DHRS1; NbExp=3; IntAct=EBI-10176379, EBI-746300;
CC P59991; O95967: EFEMP2; NbExp=3; IntAct=EBI-10176379, EBI-743414;
CC P59991; Q9NVF9: ETNK2; NbExp=3; IntAct=EBI-10176379, EBI-751864;
CC P59991; Q08E93: FAM27E3; NbExp=3; IntAct=EBI-10176379, EBI-2602739;
CC P59991; Q13643: FHL3; NbExp=6; IntAct=EBI-10176379, EBI-741101;
CC P59991; Q12950: FOXD4; NbExp=3; IntAct=EBI-10176379, EBI-11317801;
CC P59991; Q9NU39: FOXD4L1; NbExp=3; IntAct=EBI-10176379, EBI-11320806;
CC P59991; Q6VB84: FOXD4L3; NbExp=3; IntAct=EBI-10176379, EBI-11961494;
CC P59991; Q99988: GDF15; NbExp=3; IntAct=EBI-10176379, EBI-2116863;
CC P59991; O95872: GPANK1; NbExp=3; IntAct=EBI-10176379, EBI-751540;
CC P59991; O60565: GREM1; NbExp=3; IntAct=EBI-10176379, EBI-944395;
CC P59991; A0A024R5S0: hCG_2003792; NbExp=3; IntAct=EBI-10176379, EBI-10188461;
CC P59991; P49639: HOXA1; NbExp=3; IntAct=EBI-10176379, EBI-740785;
CC P59991; P17482: HOXB9; NbExp=3; IntAct=EBI-10176379, EBI-745290;
CC P59991; Q9UBD0: HSFX2; NbExp=3; IntAct=EBI-10176379, EBI-947253;
CC P59991; Q9C086: INO80B; NbExp=3; IntAct=EBI-10176379, EBI-715611;
CC P59991; Q8NA54: IQUB; NbExp=3; IntAct=EBI-10176379, EBI-10220600;
CC P59991; O76011: KRT34; NbExp=3; IntAct=EBI-10176379, EBI-1047093;
CC P59991; P60370: KRTAP10-5; NbExp=3; IntAct=EBI-10176379, EBI-10172150;
CC P59991; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-10176379, EBI-10171774;
CC P59991; P59990: KRTAP12-1; NbExp=4; IntAct=EBI-10176379, EBI-10210845;
CC P59991; P60329: KRTAP12-4; NbExp=3; IntAct=EBI-10176379, EBI-10176396;
CC P59991; Q52LG2: KRTAP13-2; NbExp=3; IntAct=EBI-10176379, EBI-11953846;
CC P59991; Q3LI76: KRTAP15-1; NbExp=3; IntAct=EBI-10176379, EBI-11992140;
CC P59991; Q3LHN2: KRTAP19-2; NbExp=3; IntAct=EBI-10176379, EBI-12196745;
CC P59991; Q3LI59: KRTAP21-2; NbExp=3; IntAct=EBI-10176379, EBI-18395721;
CC P59991; Q6PEX3: KRTAP26-1; NbExp=6; IntAct=EBI-10176379, EBI-3957672;
CC P59991; Q9BYR7: KRTAP3-2; NbExp=3; IntAct=EBI-10176379, EBI-751260;
CC P59991; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-10176379, EBI-10172511;
CC P59991; P26371: KRTAP5-9; NbExp=6; IntAct=EBI-10176379, EBI-3958099;
CC P59991; Q3LI66: KRTAP6-2; NbExp=6; IntAct=EBI-10176379, EBI-11962084;
CC P59991; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-10176379, EBI-1043191;
CC P59991; Q9BYQ0: KRTAP9-8; NbExp=3; IntAct=EBI-10176379, EBI-11958364;
CC P59991; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-10176379, EBI-11962058;
CC P59991; Q5T751: LCE1C; NbExp=3; IntAct=EBI-10176379, EBI-12224199;
CC P59991; Q5T754: LCE1F; NbExp=3; IntAct=EBI-10176379, EBI-11958008;
CC P59991; Q5TA79: LCE2A; NbExp=3; IntAct=EBI-10176379, EBI-10246607;
CC P59991; O14633: LCE2B; NbExp=3; IntAct=EBI-10176379, EBI-11478468;
CC P59991; Q5TA78: LCE4A; NbExp=3; IntAct=EBI-10176379, EBI-10246358;
CC P59991; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-10176379, EBI-16439278;
CC P59991; Q9NP98: MYOZ1; NbExp=3; IntAct=EBI-10176379, EBI-744402;
CC P59991; Q86VE0: MYPOP; NbExp=3; IntAct=EBI-10176379, EBI-2858213;
CC P59991; Q92692-2: NECTIN2; NbExp=3; IntAct=EBI-10176379, EBI-6979889;
CC P59991; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-10176379, EBI-945833;
CC P59991; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-10176379, EBI-22310682;
CC P59991; Q9NQX5: NPDC1; NbExp=3; IntAct=EBI-10176379, EBI-748927;
CC P59991; Q6NSM0: NR1D2; NbExp=3; IntAct=EBI-10176379, EBI-10250949;
CC P59991; Q14990: ODF1; NbExp=3; IntAct=EBI-10176379, EBI-10234557;
CC P59991; P32242: OTX1; NbExp=6; IntAct=EBI-10176379, EBI-740446;
CC P59991; Q9UKS6: PACSIN3; NbExp=3; IntAct=EBI-10176379, EBI-77926;
CC P59991; Q9HBE1-4: PATZ1; NbExp=3; IntAct=EBI-10176379, EBI-11022007;
CC P59991; Q92824-2: PCSK5; NbExp=3; IntAct=EBI-10176379, EBI-11956269;
CC P59991; O76083-2: PDE9A; NbExp=3; IntAct=EBI-10176379, EBI-11524542;
CC P59991; Q9BRX2: PELO; NbExp=3; IntAct=EBI-10176379, EBI-1043580;
CC P59991; A2BDE7: PHLDA1; NbExp=3; IntAct=EBI-10176379, EBI-14084211;
CC P59991; Q8WWB5: PIH1D2; NbExp=3; IntAct=EBI-10176379, EBI-10232538;
CC P59991; O15160: POLR1C; NbExp=3; IntAct=EBI-10176379, EBI-1055079;
CC P59991; Q12837: POU4F2; NbExp=3; IntAct=EBI-10176379, EBI-17236143;
CC P59991; P54725: RAD23A; NbExp=3; IntAct=EBI-10176379, EBI-746453;
CC P59991; Q14498: RBM39; NbExp=3; IntAct=EBI-10176379, EBI-395290;
CC P59991; Q93062: RBPMS; NbExp=3; IntAct=EBI-10176379, EBI-740322;
CC P59991; P62877: RBX1; NbExp=3; IntAct=EBI-10176379, EBI-398523;
CC P59991; Q9BQY4: RHOXF2; NbExp=3; IntAct=EBI-10176379, EBI-372094;
CC P59991; Q13214-2: SEMA3B; NbExp=3; IntAct=EBI-10176379, EBI-11017428;
CC P59991; Q9UP95: SLC12A4; NbExp=3; IntAct=EBI-10176379, EBI-7244836;
CC P59991; Q86YT5: SLC13A5; NbExp=3; IntAct=EBI-10176379, EBI-12002412;
CC P59991; Q16348: SLC15A2; NbExp=3; IntAct=EBI-10176379, EBI-12806032;
CC P59991; Q8IY34: SLC15A3; NbExp=4; IntAct=EBI-10176379, EBI-12179023;
CC P59991; A0A024R4B0: SPATA3; NbExp=3; IntAct=EBI-10176379, EBI-14123856;
CC P59991; Q7Z698: SPRED2; NbExp=3; IntAct=EBI-10176379, EBI-7082156;
CC P59991; O43609: SPRY1; NbExp=3; IntAct=EBI-10176379, EBI-3866665;
CC P59991; Q9BRL6-2: SRSF8; NbExp=3; IntAct=EBI-10176379, EBI-10976394;
CC P59991; Q15560: TCEA2; NbExp=3; IntAct=EBI-10176379, EBI-710310;
CC P59991; Q96LM6: TEX37; NbExp=3; IntAct=EBI-10176379, EBI-743976;
CC P59991; Q9GZM7: TINAGL1; NbExp=3; IntAct=EBI-10176379, EBI-715869;
CC P59991; Q9GZM7-3: TINAGL1; NbExp=3; IntAct=EBI-10176379, EBI-10303636;
CC P59991; Q08117-2: TLE5; NbExp=3; IntAct=EBI-10176379, EBI-11741437;
CC P59991; Q7Z7N9: TMEM179B; NbExp=3; IntAct=EBI-10176379, EBI-11724423;
CC P59991; Q63HR2: TNS2; NbExp=6; IntAct=EBI-10176379, EBI-949753;
CC P59991; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-10176379, EBI-5235829;
CC P59991; Q15645: TRIP13; NbExp=3; IntAct=EBI-10176379, EBI-358993;
CC P59991; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-10176379, EBI-10241197;
CC P59991; P49638: TTPA; NbExp=3; IntAct=EBI-10176379, EBI-10210710;
CC P59991; Q6EMK4: VASN; NbExp=3; IntAct=EBI-10176379, EBI-10249550;
CC P59991; O95231: VENTX; NbExp=6; IntAct=EBI-10176379, EBI-10191303;
CC P59991; A8MV65-2: VGLL3; NbExp=3; IntAct=EBI-10176379, EBI-11957216;
CC P59991; Q9GZM5: YIPF3; NbExp=3; IntAct=EBI-10176379, EBI-743787;
CC P59991; P25490: YY1; NbExp=3; IntAct=EBI-10176379, EBI-765538;
CC P59991; Q96C00: ZBTB9; NbExp=6; IntAct=EBI-10176379, EBI-395708;
CC P59991; Q8WTX9: ZDHHC1; NbExp=3; IntAct=EBI-10176379, EBI-2818796;
CC P59991; Q9NZV7: ZIM2; NbExp=3; IntAct=EBI-10176379, EBI-11962760;
CC P59991; Q8IYN0: ZNF100; NbExp=3; IntAct=EBI-10176379, EBI-2849363;
CC P59991; Q9H9D4: ZNF408; NbExp=3; IntAct=EBI-10176379, EBI-347633;
CC P59991; Q6ZNH5: ZNF497; NbExp=3; IntAct=EBI-10176379, EBI-10486136;
CC P59991; Q9P0T4: ZNF581; NbExp=3; IntAct=EBI-10176379, EBI-745520;
CC P59991; Q96SQ5: ZNF587; NbExp=3; IntAct=EBI-10176379, EBI-6427977;
CC P59991; Q9P2J8: ZNF624; NbExp=3; IntAct=EBI-10176379, EBI-9116427;
CC P59991; A0A0S2Z5X4: ZNF688; NbExp=3; IntAct=EBI-10176379, EBI-16429014;
CC P59991; Q9H7X3: ZNF696; NbExp=3; IntAct=EBI-10176379, EBI-11090299;
CC P59991; Q96H86: ZNF764; NbExp=3; IntAct=EBI-10176379, EBI-745775;
CC P59991; A8K8V0: ZNF785; NbExp=3; IntAct=EBI-10176379, EBI-3925400;
CC P59991; O43257: ZNHIT1; NbExp=3; IntAct=EBI-10176379, EBI-347522;
CC P59991; Q5BKY6; NbExp=3; IntAct=EBI-10176379, EBI-10243533;
CC P59991; Q96EJ4; NbExp=3; IntAct=EBI-10176379, EBI-750454;
CC -!- TISSUE SPECIFICITY: Restricted to a narrow region of the hair fiber
CC cuticle, lying approximately 20 cell layers above the apex of the
CC dermal papilla of the hair root; not detected in any other tissues.
CC {ECO:0000269|PubMed:14962103, ECO:0000269|PubMed:15028290}.
CC -!- SIMILARITY: Belongs to the KRTAP type 12 family. {ECO:0000305}.
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DR EMBL; AB076362; BAD01549.1; -; mRNA.
DR EMBL; AJ566389; CAD97469.1; -; mRNA.
DR EMBL; AL773602; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC120941; AAI20942.1; -; mRNA.
DR CCDS; CCDS42965.1; -.
DR RefSeq; NP_859012.1; NM_181684.2.
DR AlphaFoldDB; P59991; -.
DR BioGRID; 131684; 126.
DR IntAct; P59991; 120.
DR STRING; 9606.ENSP00000354001; -.
DR BioMuta; KRTAP12-2; -.
DR DMDM; 38257914; -.
DR MassIVE; P59991; -.
DR PaxDb; P59991; -.
DR PeptideAtlas; P59991; -.
DR PRIDE; P59991; -.
DR DNASU; 353323; -.
DR Ensembl; ENST00000360770.3; ENSP00000354001.3; ENSG00000221864.4.
DR GeneID; 353323; -.
DR KEGG; hsa:353323; -.
DR MANE-Select; ENST00000360770.3; ENSP00000354001.3; NM_181684.3; NP_859012.1.
DR UCSC; uc002zfu.3; human.
DR CTD; 353323; -.
DR GeneCards; KRTAP12-2; -.
DR HGNC; HGNC:20530; KRTAP12-2.
DR HPA; ENSG00000221864; Tissue enriched (skin).
DR neXtProt; NX_P59991; -.
DR OpenTargets; ENSG00000221864; -.
DR PharmGKB; PA134993440; -.
DR VEuPathDB; HostDB:ENSG00000221864; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000163527; -.
DR HOGENOM; CLU_138013_0_0_1; -.
DR InParanoid; P59991; -.
DR OMA; NSCRCIY; -.
DR OrthoDB; 1616617at2759; -.
DR PhylomeDB; P59991; -.
DR TreeFam; TF339135; -.
DR PathwayCommons; P59991; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; P59991; -.
DR BioGRID-ORCS; 353323; 8 hits in 1056 CRISPR screens.
DR GenomeRNAi; 353323; -.
DR Pharos; P59991; Tdark.
DR PRO; PR:P59991; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P59991; protein.
DR Bgee; ENSG00000221864; Expressed in skin of abdomen and 18 other tissues.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0045095; C:keratin filament; IEA:InterPro.
DR InterPro; IPR002494; KAP.
DR InterPro; IPR007951; KRTAP_PMG.
DR PANTHER; PTHR23262; PTHR23262; 4.
DR Pfam; PF05287; PMG; 1.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..146
FT /note="Keratin-associated protein 12-2"
FT /id="PRO_0000185197"
FT REPEAT 10..14
FT /note="1"
FT REPEAT 15..19
FT /note="2"
FT REPEAT 20..24
FT /note="3"
FT REPEAT 25..29
FT /note="4"
FT REPEAT 34..38
FT /note="5"
FT REPEAT 40..44
FT /note="6"
FT REPEAT 45..49
FT /note="7"
FT REPEAT 55..59
FT /note="8"
FT REPEAT 60..64
FT /note="9"
FT REPEAT 65..69
FT /note="10"
FT REPEAT 70..74
FT /note="11"
FT REPEAT 75..79
FT /note="12"
FT REPEAT 80..84
FT /note="13"
FT REPEAT 85..89
FT /note="14"
FT REPEAT 90..94
FT /note="15"
FT REPEAT 95..99
FT /note="16"
FT REPEAT 100..104
FT /note="17"
FT REPEAT 105..109
FT /note="18"
FT REPEAT 110..114
FT /note="19"
FT REPEAT 120..124
FT /note="20"
FT REPEAT 125..129
FT /note="21"
FT REPEAT 130..134
FT /note="22"
FT REPEAT 135..139
FT /note="23"
FT REGION 10..139
FT /note="23 X 5 AA approximate repeats"
FT VARIANT 16
FT /note="A -> T (in dbSNP:rs13046903)"
FT /id="VAR_060057"
FT VARIANT 16
FT /note="A -> V (in dbSNP:rs7275298)"
FT /id="VAR_060058"
FT VARIANT 29
FT /note="S -> C (in dbSNP:rs7275281)"
FT /id="VAR_060059"
FT VARIANT 29
FT /note="S -> P (in dbSNP:rs7276859)"
FT /id="VAR_062115"
FT VARIANT 116
FT /note="A -> V (in dbSNP:rs12483730)"
FT /id="VAR_053468"
FT VARIANT 143
FT /note="S -> P (in dbSNP:rs2838622)"
FT /id="VAR_053469"
SQ SEQUENCE 146 AA; 14689 MW; 7183BF01D2D7D069 CRC64;
MCHTSCSSGC QPACCAPSPC QPACCVPSSC QASCCVPVGC QSSVCVPVSF KPAVCLPVSC
QSSVCVPMSF KSAVCVPVSC QSSVCVPVSC RPIVCAAPSC QSSLCVPVSC RPVVYAAPSC
QSSGCCQPSC TSVLCRPISY SISSCC
