LOCUS       NM_033191                967 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA.
ACCESSION   NM_033191
VERSION     NM_033191.3
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 967)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   2  (bases 1 to 967)
  AUTHORS   Rogers,M.A., Langbein,L., Winter,H., Ehmann,C., Praetzel,S.,
            Korn,B. and Schweizer,J.
  TITLE     Characterization of a cluster of human high/ultrahigh sulfur
            keratin-associated protein genes embedded in the type I keratin
            gene domain on chromosome 17q12-21
  JOURNAL   J Biol Chem 276 (22), 19440-19451 (2001)
   PUBMED   11279113
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from AC006070.1.
            
            On May 17, 2019 this sequence version replaced NM_033191.2.
            
            Summary: This protein is a member of the keratin-associated protein
            (KAP) family. The KAP proteins form a matrix of keratin
            intermediate filaments which contribute to the structure of hair
            fibers. KAP family members appear to have unique, family-specific
            amino- and carboxyl-terminal regions and are subdivided into three
            multi-gene families according to amino acid composition: the high
            sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs.
            This protein is a member of the ultrahigh sulfur KAP family and the
            gene is localized to a cluster of KAPs at 17q12-q21. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript is intronless :: AJ406948.1, BC121094.2 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334109.3/ ENSP00000334922.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-967               AC006070.1         56457-57423         c
FEATURES             Location/Qualifiers
     source          1..967
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..967
                     /gene="KRTAP9-4"
                     /gene_synonym="KAP9.4; KRTAP9.4"
                     /note="keratin associated protein 9-4"
                     /db_xref="GeneID:85280"
                     /db_xref="HGNC:HGNC:18902"
     exon            1..967
                     /gene="KRTAP9-4"
                     /gene_synonym="KAP9.4; KRTAP9.4"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..499
                     /gene="KRTAP9-4"
                     /gene_synonym="KAP9.4; KRTAP9.4"
                     /note="keratin-associated protein 9.4; ultrahigh sulfur
                     keratin-associated protein 9.4"
                     /codon_start=1
                     /product="keratin-associated protein 9-4"
                     /protein_id="NP_149461.2"
                     /db_xref="CCDS:CCDS11386.1"
                     /db_xref="GeneID:85280"
                     /db_xref="HGNC:HGNC:18902"
                     /translation="MTHCCSPCCQPTCCRTTCCRTTCWKPTTVTTCSSTPCCQPSCCV
                     SSCCQPCCRPTCCQNTCCQPTCVTSCCQPSCCSTPCCQPTCCGSSCDQSSSCAPVYCR
                     RTCYYPTTVCLPGCLNQSCGSNCCQPCCRPACCETTCFQPTCVSSCCQPFCC"
ORIGIN      
        1 tctgaacaga agcccaccct ctacccctga caccatgacc cactgttgct ccccttgctg
       61 tcagcctaca tgctgcagga ccacctgctg caggaccacc tgctggaagc ccaccactgt
      121 gaccacctgc agcagcacac cctgctgcca gccctcctgc tgtgtttcca gctgctgcca
      181 gccttgctgc cgcccaactt gctgtcaaaa cacctgctgc cagcccacct gtgtgaccag
      241 ctgctgccag ccttcctgct gcagcacacc ctgctgccag cccacctgct gtgggtccag
      301 ctgtgaccag agcagctcct gtgcacctgt gtactgcaga agaacctgct actaccccac
      361 aactgtctgc ctgcctggtt gcctaaacca gagctgtggc tccaactgct gccagccctg
      421 ctgccgccca gcctgctgtg agaccacttg cttccagccc acctgtgtgt ccagctgctg
      481 tcagcctttt tgctgctgat caagtcccaa gagaaccacc atcctcacac aacaactttc
      541 tgctcaactg acttatcttt tgggggacta atttaatttg ctgctgacag ccaccatgct
      601 ctcacccaaa tttttatgaa ttctctacct gtttaaaatc ttgggaatct acttgaggga
      661 gggcagaata cttcatcctg attctctttt tccttacact ttgtggatca tgtgccagct
      721 tcgtgtgttc tcaattttga gtcatggtct cagctttgac tcaaaagtca agagcttcat
      781 tctctgcttc taaggaattt aggtttctgc aactgatcaa taatctttgc aatcatattt
      841 ttgttttcaa tatcctcctc atggttcttg tatccttctt tcttcttttc ataactttgg
      901 gttatgtttc tgctaccagc agagattctt agctatatgt ttctgaataa actctgaacc
      961 atcctca
//
