LOCUS       NP_002274                507 aa            linear   PRI 28-APR-2025
DEFINITION  keratin, type II cuticular Hb5 isoform 1 [Homo sapiens].
ACCESSION   NP_002274
VERSION     NP_002274.1
DBSOURCE    REFSEQ: accession NM_002283.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 507)
  AUTHORS   Yamamoto,M., Sakamoto,Y., Honda,Y., Koike,K., Nakamura,H.,
            Matsumoto,T. and Ando,S.
  TITLE     De novo filament formation by human hair keratins K85 and K35
            follows a filament development pattern distinct from cytokeratin
            filament networks
  JOURNAL   FEBS Open Bio 11 (5), 1299-1312 (2021)
   PUBMED   33605551
  REMARK    GeneRIF: De novo filament formation by human hair keratins K85 and
            K35 follows a filament development pattern distinct from
            cytokeratin filament networks.
REFERENCE   2  (residues 1 to 507)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 507)
  AUTHORS   Amico,S., Ged,C., Taieb,A. and Morice-Picard,F.
  TITLE     Compound heterozygosity for novel KRT85 variants associated with
            pure hair and nail ectodermal dysplasia
  JOURNAL   J Eur Acad Dermatol Venereol 33 (12), e458-e459 (2019)
   PUBMED   31273852
  REMARK    GeneRIF: described for the first time KRT85 compound heterozygosity
            in caucasian patients, leading to pure hair and nail ectodermal
            dysplasia. Next generation sequencing molecular diagnosis allowed
            to confirm rapidly the diagnosis and to guide genetic counselling
REFERENCE   4  (residues 1 to 507)
  AUTHORS   Pieragostino,D., Agnifili,L., Fasanella,V., D'Aguanno,S.,
            Mastropasqua,R., Di Ilio,C., Sacchetta,P., Urbani,A. and Del
            Boccio,P.
  TITLE     Shotgun proteomics reveals specific modulated protein patterns in
            tears of patients with primary open angle glaucoma naive to therapy
  JOURNAL   Mol Biosyst 9 (6), 1108-1116 (2013)
   PUBMED   23580065
REFERENCE   5  (residues 1 to 507)
  AUTHORS   Rasool,M., Nawaz,S., Azhar,A., Wajid,M., Westermark,P., Baig,S.M.,
            Klar,J. and Dahl,N.
  TITLE     Autosomal recessive pure hair and nail ectodermal dysplasia linked
            to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
  JOURNAL   Eur J Dermatol 20 (4), 443-446 (2010)
   PUBMED   20409997
  REMARK    GeneRIF: Our study confirms linkage of a variant clinical form of
            hair-nail ectodermal dysplasia to chromosome 12 without any
            mutation in the coding sequences of the KRTHB5 gene.
REFERENCE   6  (residues 1 to 507)
  AUTHORS   Tang,K., Finley,R.L. Jr., Nie,D. and Honn,K.V.
  TITLE     Identification of 12-lipoxygenase interaction with cellular
            proteins by yeast two-hybrid screening
  JOURNAL   Biochemistry 39 (12), 3185-3191 (2000)
   PUBMED   10727209
REFERENCE   7  (residues 1 to 507)
  AUTHORS   Rogers,M.A., Winter,H., Langbein,L., Wolf,C. and Schweizer,J.
  TITLE     Characterization of a 300 kbp region of human DNA containing the
            type II hair keratin gene domain
  JOURNAL   J Invest Dermatol 114 (3), 464-472 (2000)
   PUBMED   10692104
REFERENCE   8  (residues 1 to 507)
  AUTHORS   Langbein,L., Rogers,M.A., Winter,H., Praetzel,S., Beckhaus,U.,
            Rackwitz,H.R. and Schweizer,J.
  TITLE     The catalog of human hair keratins. I. Expression of the nine type
            I members in the hair follicle
  JOURNAL   J Biol Chem 274 (28), 19874-19884 (1999)
   PUBMED   10391933
REFERENCE   9  (residues 1 to 507)
  AUTHORS   Rogers,M.A., Langbein,L., Praetzel,S., Moll,I., Krieg,T., Winter,H.
            and Schweizer,J.
  TITLE     Sequences and differential expression of three novel human type-II
            hair keratins
  JOURNAL   Differentiation 61 (3), 187-194 (1997)
   PUBMED   9084137
REFERENCE   10 (residues 1 to 507)
  AUTHORS   Rogers,M.A., Winter,H., Langbein,L., Krieg,T. and Schweizer,J.
  TITLE     Genomic characterization of the human type I cuticular hair keratin
            hHa2 and identification of an adjacent novel type I hair keratin
            gene hHa5
  JOURNAL   J Invest Dermatol 107 (4), 633-638 (1996)
   PUBMED   8823373
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from AC078865.22 and X99140.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a member of the
            keratin gene family. As a type II hair keratin, it is a basic
            protein which heterodimerizes with type I keratins to form hair and
            nails. The type II hair keratins are clustered in a region of
            chromosome 12q13 and are grouped into two distinct subfamilies
            based on structure similarity. One subfamily, consisting of KRTHB1,
            KRTHB3, and KRTHB6, is highly related. The other less-related
            subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X99140.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257901.7/ ENSP00000257901.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..507
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..507
                     /product="keratin, type II cuticular Hb5 isoform 1"
                     /note="keratin, hair, basic, 5; keratin, type II cuticular
                     Hb5; hard keratin, type II, 5; hair keratin K2.12; type-II
                     keratin Kb25; type II hair keratin Hb5; keratin 85, type
                     II"
                     /calculated_mol_wt=55671
     Region          1..123
                     /region_name="Head"
                     /note="propagated from UniProtKB/Swiss-Prot (P78386.1)"
     Region          17..119
                     /region_name="Keratin_2_head"
                     /note="Keratin type II head; pfam16208"
                     /db_xref="CDD:465068"
     Region          122..433
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:459643"
     Region          124..158
                     /region_name="Coil 1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P78386.1)"
     Region          159..168
                     /region_name="Linker 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78386.1)"
     Region          169..269
                     /region_name="Coil 1B"
                     /note="propagated from UniProtKB/Swiss-Prot (P78386.1)"
     Region          270..286
                     /region_name="Linker 12"
                     /note="propagated from UniProtKB/Swiss-Prot (P78386.1)"
     Region          287..430
                     /region_name="Coil 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P78386.1)"
     Region          431..507
                     /region_name="Tail"
                     /note="propagated from UniProtKB/Swiss-Prot (P78386.1)"
     CDS             1..507
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /coded_by="NM_002283.4:77..1600"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8824.1"
                     /db_xref="GeneID:3891"
                     /db_xref="HGNC:HGNC:6462"
                     /db_xref="MIM:602767"
ORIGIN      
        1 mscrsyriss gcgvtrnfss csavapktgn rccisaapyr gvscyrgltg fgsrslcnlg
       61 scgpriavgg fragscgrsf gyrsggvcgp sppcittvsv neslltplnl eidpnaqcvk
      121 qeekeqiksl nsrfaafidk vrfleqqnkl letkwqfyqn qrccesnlep lfsgyietlr
      181 reaecveads grlaselnhv qevlegykkk yeeevalrat aenefvvlkk dvdcaylrks
      241 dleanvealv eessflrrly eeeirvlqah isdtsvivkm dnsrdlnmdc iiaeikaqyd
      301 dvasrsraea eswyrskcee mkatvirhge tlrrtkeein elnrmiqrlt aeienakcqr
      361 akleaavaea eqqgeaalsd arcklaeleg alqkakqdma cllkeyqevm nsklgldiei
      421 atyrrllege ehrlcegvgs vnvcvsssrg gvscgglsys ttpgrqitsg psaiggsitv
      481 vapdscapcq prsssfscgs srsvrfa
//
