KRA52_HUMAN
ID KRA52_HUMAN Reviewed; 177 AA.
AC Q701N4; A9JTZ1;
DT 21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Keratin-associated protein 5-2;
DE AltName: Full=Keratin-associated protein 5-8;
DE AltName: Full=Keratin-associated protein 5.2;
DE AltName: Full=Keratin-associated protein 5.8;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 5.2;
GN Name=KRTAP5-2; Synonyms=KAP5-8, KAP5.2, KRTAP5-8, KRTAP5.2, KRTAP5.8;
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=15144888; DOI=10.1016/j.bbrc.2004.04.074;
RA Yahagi S., Shibuya K., Obayashi I., Masaki H., Kurata Y., Kudoh J.,
RA Shimizu N.;
RT "Identification of two novel clusters of ultrahigh-sulfur keratin-
RT associated protein genes on human chromosome 11.";
RL Biochem. Biophys. Res. Commun. 318:655-664(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Scalp;
RA Rogers M.A., Langbein L., Winter H., Praetzel S., Schweizer J.;
RT "Characterization of two domains of keratin associated protein (KAP) family
RT members on human chromosome 11.";
RL Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
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 protein (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 Q701N4; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-11958178, EBI-10173507;
CC Q701N4; Q9UGL9: CRCT1; NbExp=3; IntAct=EBI-11958178, EBI-713677;
CC Q701N4; Q02930-3: CREB5; NbExp=3; IntAct=EBI-11958178, EBI-10192698;
CC Q701N4; Q49AN0: CRY2; NbExp=3; IntAct=EBI-11958178, EBI-2212355;
CC Q701N4; Q96LJ7: DHRS1; NbExp=3; IntAct=EBI-11958178, EBI-746300;
CC Q701N4; O95886: DLGAP3; NbExp=3; IntAct=EBI-11958178, EBI-1752541;
CC Q701N4; Q9NPA0: EMC7; NbExp=3; IntAct=EBI-11958178, EBI-6309137;
CC Q701N4; Q5HYJ3-3: FAM76B; NbExp=3; IntAct=EBI-11958178, EBI-11956087;
CC Q701N4; Q9BTY2: FUCA2; NbExp=3; IntAct=EBI-11958178, EBI-9050116;
CC Q701N4; P49639: HOXA1; NbExp=5; IntAct=EBI-11958178, EBI-740785;
CC Q701N4; P60371: KRTAP10-6; NbExp=3; IntAct=EBI-11958178, EBI-12012928;
CC Q701N4; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-11958178, EBI-10172290;
CC Q701N4; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-11958178, EBI-10171774;
CC Q701N4; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-11958178, EBI-14065470;
CC Q701N4; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-11958178, EBI-10172511;
CC Q701N4; Q9BYR2: KRTAP4-5; NbExp=3; IntAct=EBI-11958178, EBI-11993254;
CC Q701N4; Q6L8H1: KRTAP5-4; NbExp=3; IntAct=EBI-11958178, EBI-11963072;
CC Q701N4; Q6L8G8: KRTAP5-7; NbExp=3; IntAct=EBI-11958178, EBI-11987425;
CC Q701N4; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-11958178, EBI-3958099;
CC Q701N4; Q9BYQ4: KRTAP9-2; NbExp=4; IntAct=EBI-11958178, EBI-1044640;
CC Q701N4; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-11958178, EBI-11962058;
CC Q701N4; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-11958178, EBI-10245913;
CC Q701N4; Q5T751: LCE1C; NbExp=3; IntAct=EBI-11958178, EBI-12224199;
CC Q701N4; Q5T752: LCE1D; NbExp=3; IntAct=EBI-11958178, EBI-11741311;
CC Q701N4; Q5T753: LCE1E; NbExp=5; IntAct=EBI-11958178, EBI-11955335;
CC Q701N4; Q5T754: LCE1F; NbExp=3; IntAct=EBI-11958178, EBI-11958008;
CC Q701N4; O14633: LCE2B; NbExp=6; IntAct=EBI-11958178, EBI-11478468;
CC Q701N4; Q5TA81: LCE2C; NbExp=3; IntAct=EBI-11958178, EBI-11973993;
CC Q701N4; Q5TA82: LCE2D; NbExp=3; IntAct=EBI-11958178, EBI-10246750;
CC Q701N4; Q5TA76: LCE3A; NbExp=3; IntAct=EBI-11958178, EBI-9394625;
CC Q701N4; Q5TA77: LCE3B; NbExp=3; IntAct=EBI-11958178, EBI-11974495;
CC Q701N4; Q5T5A8: LCE3C; NbExp=6; IntAct=EBI-11958178, EBI-10245291;
CC Q701N4; Q5T5B0: LCE3E; NbExp=3; IntAct=EBI-11958178, EBI-10245456;
CC Q701N4; Q5TCM9: LCE5A; NbExp=5; IntAct=EBI-11958178, EBI-11955689;
CC Q701N4; Q5T871: LELP1; NbExp=3; IntAct=EBI-11958178, EBI-18115868;
CC Q701N4; Q8IXW0: LMNTD2; NbExp=3; IntAct=EBI-11958178, EBI-12028858;
CC Q701N4; Q8N5G2: MACO1; NbExp=3; IntAct=EBI-11958178, EBI-2683507;
CC Q701N4; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11958178, EBI-16439278;
CC Q701N4; P07438: MT1B; NbExp=3; IntAct=EBI-11958178, EBI-12015462;
CC Q701N4; Q7Z417: NUFIP2; NbExp=3; IntAct=EBI-11958178, EBI-1210753;
CC Q701N4; Q14982: OPCML; NbExp=3; IntAct=EBI-11958178, EBI-6447201;
CC Q701N4; Q86YT5: SLC13A5; NbExp=3; IntAct=EBI-11958178, EBI-12002412;
CC Q701N4; P49901: SMCP; NbExp=6; IntAct=EBI-11958178, EBI-750494;
CC Q701N4; P09758: TACSTD2; NbExp=3; IntAct=EBI-11958178, EBI-4324738;
CC Q701N4; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-11958178, EBI-10180829;
CC -!- TISSUE SPECIFICITY: Restricted to hair root, not detected in any other
CC tissues. {ECO:0000269|PubMed:15144888}.
CC -!- SIMILARITY: Belongs to the KRTAP type 5 family. {ECO:0000305}.
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DR EMBL; AB126071; BAD20198.1; -; mRNA.
DR EMBL; AJ628245; CAF31637.1; -; mRNA.
DR EMBL; BC132882; AAI32883.1; -; mRNA.
DR EMBL; BC132908; AAI32909.1; -; mRNA.
DR CCDS; CCDS31331.1; -.
DR RefSeq; NP_001004325.1; NM_001004325.1.
DR AlphaFoldDB; Q701N4; -.
DR BioGRID; 136219; 46.
DR IntAct; Q701N4; 45.
DR STRING; 9606.ENSP00000400041; -.
DR DrugBank; DB02379; Beta-D-Glucose.
DR DrugBank; DB03088; Pidolic acid.
DR iPTMnet; Q701N4; -.
DR PhosphoSitePlus; Q701N4; -.
DR BioMuta; KRTAP5-2; -.
DR MassIVE; Q701N4; -.
DR PaxDb; Q701N4; -.
DR PeptideAtlas; Q701N4; -.
DR PRIDE; Q701N4; -.
DR DNASU; 440021; -.
DR Ensembl; ENST00000412090.2; ENSP00000400041.1; ENSG00000205867.3.
DR Ensembl; ENST00000612541.2; ENSP00000484511.1; ENSG00000278489.2.
DR Ensembl; ENST00000628787.1; ENSP00000487099.1; ENSG00000281533.1.
DR GeneID; 440021; -.
DR KEGG; hsa:440021; -.
DR MANE-Select; ENST00000412090.2; ENSP00000400041.1; NM_001004325.2; NP_001004325.1.
DR UCSC; uc001ltv.3; human.
DR CTD; 440021; -.
DR GeneCards; KRTAP5-2; -.
DR HGNC; HGNC:23597; KRTAP5-2.
DR HPA; ENSG00000205867; Group enriched (brain, pancreas, skin).
DR neXtProt; NX_Q701N4; -.
DR OpenTargets; ENSG00000205867; -.
DR PharmGKB; PA134981423; -.
DR VEuPathDB; HostDB:ENSG00000205867; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000164129; -.
DR HOGENOM; CLU_097966_1_0_1; -.
DR OMA; WVPACSC; -.
DR PathwayCommons; Q701N4; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q701N4; -.
DR BioGRID-ORCS; 440021; 9 hits in 1050 CRISPR screens.
DR GenomeRNAi; 440021; -.
DR Pharos; Q701N4; Tdark.
DR PRO; PR:Q701N4; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q701N4; protein.
DR Bgee; ENSG00000205867; Expressed in prefrontal cortex and 61 other tissues.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0045095; C:keratin filament; IEA:InterPro.
DR InterPro; IPR002494; KAP.
DR PANTHER; PTHR23262; PTHR23262; 2.
DR Pfam; PF13885; Keratin_B2_2; 1.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..177
FT /note="Keratin-associated protein 5-2"
FT /id="PRO_0000184100"
FT REPEAT 62..65
FT /note="1"
FT REPEAT 118..121
FT /note="2"
FT REPEAT 137..140
FT /note="3"
FT REPEAT 147..150
FT /note="4"
FT REPEAT 157..160
FT /note="5"
FT REPEAT 167..170
FT /note="6"
FT REGION 62..170
FT /note="6 X 4 AA repeats of C-C-X-P"
SQ SEQUENCE 177 AA; 16271 MW; BFA74666188A185C CRC64;
MGCCGCSRGC GSGCGGCGSS CGGCGSGCGG CGSGRGGCGS GCGGCSSSCG GCGSRCYVPV
CCCKPVCSWV PACSCTSCGS CGGSKGGCGS CGGSKGGCGS CGGSKGGCGS CGCSQSSCCK
PCCCSSGCGS SCCQSSCCKP CCCQSSCCVP VCCQSSCCKP CCCQSNCCVP VCCQCKI
