LOCUS       NM_152365               1855 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens keratinocyte differentiation factor 1 (KDF1), mRNA.
ACCESSION   NM_152365
VERSION     NM_152365.3
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  (bases 1 to 1855)
  AUTHORS   Yu,M., Liu,H., Liu,Y., Zheng,J., Wu,J., Sun,K., Feng,H., Liu,H. and
            Han,D.
  TITLE     KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects
  JOURNAL   Int J Mol Sci 23 (20), 12465 (2022)
   PUBMED   36293320
  REMARK    GeneRIF: KDF1 Novel Variant Causes Unique Dental and Oral
            Epithelial Defects.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1855)
  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  (bases 1 to 1855)
  AUTHORS   Shamseldin,H.E., Khalifa,O., Binamer,Y.M., Almutawa,A., Arold,S.T.,
            Zaidan,H. and Alkuraya,F.S.
  TITLE     KDF1, encoding keratinocyte differentiation factor 1, is mutated in
            a multigenerational family with ectodermal dysplasia
  JOURNAL   Hum Genet 136 (1), 99-105 (2017)
   PUBMED   27838789
  REMARK    GeneRIF: We describe a family with a novel, autosomal dominant form
            of ectodermal dysplasia that we suggest is the mild human
            equivalent of the shd mutant phenotype in mouse based on the
            finding of a novel KDF1 variant by positional mapping and exome
            sequencing.
REFERENCE   4  (bases 1 to 1855)
  AUTHORS   Lee,S., Kong,Y. and Weatherbee,S.D.
  TITLE     Forward genetics identifies Kdf1/1810019J16Rik as an essential
            regulator of the proliferation-differentiation decision in
            epidermal progenitor cells
  JOURNAL   Dev Biol 383 (2), 201-213 (2013)
   PUBMED   24075906
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356390.24, DA041083.1, AK091952.1 and BC033143.1.
            
            On Nov 23, 2018 this sequence version replaced NM_152365.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1178621.1, AK091952.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320567.6/ ENSP00000319179.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                AL356390.24        73971-74028
            59-62               DA041083.1         1-4
            63-599              AK091952.1         1-537
            600-1855            BC033143.1         373-1628
FEATURES             Location/Qualifiers
     source          1..1855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..1855
                     /gene="KDF1"
                     /gene_synonym="C1orf172; ECTD12"
                     /note="keratinocyte differentiation factor 1"
                     /db_xref="GeneID:126695"
                     /db_xref="HGNC:HGNC:26624"
                     /db_xref="MIM:616758"
     exon            1..119
                     /gene="KDF1"
                     /gene_synonym="C1orf172; ECTD12"
                     /inference="alignment:Splign:2.1.0"
     exon            120..1190
                     /gene="KDF1"
                     /gene_synonym="C1orf172; ECTD12"
                     /inference="alignment:Splign:2.1.0"
     CDS             152..1348
                     /gene="KDF1"
                     /gene_synonym="C1orf172; ECTD12"
                     /note="RP11-344H11.3"
                     /codon_start=1
                     /product="keratinocyte differentiation factor 1"
                     /protein_id="NP_689578.2"
                     /db_xref="CCDS:CCDS293.1"
                     /db_xref="GeneID:126695"
                     /db_xref="HGNC:HGNC:26624"
                     /db_xref="MIM:616758"
                     /translation="MPRPGHPRPASGPPRLGPWERPTELCLETYDKPPQPPPSRRTRR
                     PDPKDPGHHGPESITFISGSAEPALESPTCCLLWRPWVWEWCRAAFCFRRCRDCLQRC
                     GACVRGCSPCLSTEDSTEGTAEANWAKEHNGVPPSPDRAPPSRRDGQRLKSTMGSSFS
                     YPDVKLKGIPVYPYPRATSPAPDADSCCKEPLADPPPMRHSLPSTFASSPRGSEEYYS
                     FHESDLDLPEMGSGSMSSREIDVLIFKKLTELFSVHQIDELAKCTSDTVFLEKTSKIS
                     DLISSITQDYHLDEQDAEGRLVRGIIRISTRKSRARPQTSEGRSTRAAAPTAAAPDSG
                     HETMVGSGLSQDELTVQISQETTADAIARKLRPYGAPGYPASHDSSFQGTDTDSSGAP
                     LLQVYC"
     exon            1191..1265
                     /gene="KDF1"
                     /gene_synonym="C1orf172; ECTD12"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1855
                     /gene="KDF1"
                     /gene_synonym="C1orf172; ECTD12"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1855
                     /gene="KDF1"
                     /gene_synonym="C1orf172; ECTD12"
                     /note="major polyA site"
ORIGIN      
        1 aagtgtgtcc ctagcggcgg cccgtgcagc gctcccgcga gacgctcacc tgcgccccag
       61 gtgagcggcg agggggcggg ggaggggctg agccggaggc ggctcacctg gcgggacagg
      121 tgcctggctg ctacaaacca tgcaatgagc catgccccgc cctggacacc cccgcccagc
      181 atctgggcct ccacgcttgg gaccgtggga gcggccaaca gagctatgtc tggagacata
      241 tgataaacca cctcagcccc caccaagccg ccgcacccgt agaccagacc ccaaggaccc
      301 tggccaccat gggccagaga gcattacctt catctctggc tctgctgagc cggcccttga
      361 gtcccccacc tgctgcctgc tctggcgacc ctgggtgtgg gagtggtgcc gggctgcctt
      421 ctgcttccgc cgctgccggg attgcctcca gcgctgtgga gcctgtgtgc ggggatgcag
      481 cccctgcctg tctactgagg actccactga ggggactgct gaagccaact gggccaagga
      541 gcacaatgga gtgcccccca gccctgatcg tgcacccccc agccggcggg atggccagcg
      601 gctcaagtca accatgggca gcagcttcag ctaccccgat gttaagctca aaggcatccc
      661 tgtgtatccc tacccgaggg ccacctcccc agcccctgat gcggactcct gctgcaagga
      721 gccactggcc gatcccccac ccatgcgaca cagcctgccc agcacctttg ccagtagtcc
      781 tcgtggctcc gaggagtact attctttcca tgagtcggac ctggacctgc cggagatggg
      841 cagtggctcc atgtcgagcc gagaaattga tgtgctcatc ttcaagaagc tgacagagct
      901 gttcagcgta caccagatcg atgagctggc caagtgcaca tcagacactg tgttcctgga
      961 gaagaccagt aagatctcgg accttatcag cagcatcacg caggactacc acctggatga
     1021 gcaggatgct gagggccgcc tggtacgcgg catcattcgc attagtaccc gaaagagccg
     1081 tgctcgccca cagacctcgg agggtcgttc aactcgggct gctgccccaa ccgctgctgc
     1141 ccctgacagt ggccatgaga ccatggtggg ctcaggtctc agccaggatg agctgacagt
     1201 gcagatctcc caggagacga ctgcagatgc catcgcccgg aagctgaggc cttatggagc
     1261 tccagggtac ccagcaagcc atgactcatc cttccagggc accgacacag actcgtcggg
     1321 ggcacccttg ctccaggtgt actgctaacc cctgccaggc ccagctgcca caccctttct
     1381 gggagaagca tggcctacag aatgaagagg gggaccagga acccctgtgg gagaggctta
     1441 gacctgaagc agtgcccact ctggctcctc ctgccttggc tgactgggtt cctggaccat
     1501 gtgcatttca ctgggccatg ggatctacat ctccttgcat ccccagctgg tctgatccct
     1561 gccagggccc cttccttcct gctcatggtc ttcaggtggc ctgatcatgg aaagtaagga
     1621 gttaggcatt accttctggg agtgaaccct gactccatcc ccctattgcc accctaacca
     1681 atcatgcaaa cttctccctc cctggggtaa ttcaacagtt aaaagaagct tatcttaaat
     1741 gtattgtatt ggggggtggg cagggcccac tctatgttat gttaaggagt tggttctggt
     1801 tcttggctga tgttctgtat cttaacatga ccacagtttg taagtacaaa ggtaa
//
