LOCUS       NM_001008536            3606 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens trichohyalin like 1 (TCHHL1), mRNA.
ACCESSION   NM_001008536 XM_060104
VERSION     NM_001008536.2
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 3606)
  AUTHORS   Berna,R., Mitra,N., Hoffstad,O., Wubbenhorst,B., Nathanson,K.L. and
            Margolis,D.J.
  TITLE     Uncommon variants in FLG2 and TCHHL1 are associated with remission
            of atopic dermatitis in a large longitudinal US cohort
  JOURNAL   Arch Dermatol Res 314 (10), 953-959 (2022)
   PUBMED   34984527
  REMARK    GeneRIF: Uncommon variants in FLG2 and TCHHL1 are associated with
            remission of atopic dermatitis in a large longitudinal US cohort.
REFERENCE   2  (bases 1 to 3606)
  AUTHORS   Yamakoshi,T., Makino,T., Ur Rehman,M., Yoshihisa,Y., Sugimori,M.
            and Shimizu,T.
  TITLE     Trichohyalin-like 1 protein, a member of fused S100 proteins, is
            expressed in normal and pathologic human skin
  JOURNAL   Biochem Biophys Res Commun 432 (1), 66-72 (2013)
   PUBMED   23376073
  REMARK    GeneRIF: These findings highlight the possibility that TCHHL1
            proteins are expressed in growing keratinocytes of the epidermis
            and might be associated with the proliferation of keratinocytes.
REFERENCE   3  (bases 1 to 3606)
  AUTHORS   Wu,Z., Latendorf,T., Meyer-Hoffert,U. and Schroder,J.M.
  TITLE     Identification of trichohyalin-like 1, an s100 fused-type protein
            selectively expressed in hair follicles
  JOURNAL   J Invest Dermatol 131 (8), 1761-1763 (2011)
   PUBMED   21614011
  REMARK    GeneRIF: We identified and characterized a novel S100 fused type
            protein expressed in hair follicles
REFERENCE   4  (bases 1 to 3606)
  AUTHORS   Eriksson,N., Macpherson,J.M., Tung,J.Y., Hon,L.S., Naughton,B.,
            Saxonov,S., Avey,L., Wojcicki,A., Pe'er,I. and Mountain,J.
  TITLE     Web-based, participant-driven studies yield novel genetic
            associations for common traits
  JOURNAL   PLoS Genet 6 (6), e1000993 (2010)
   PUBMED   20585627
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY456639.1 and AL591893.9.
            
            On Nov 22, 2018 this sequence version replaced NM_001008536.1.
            
            Summary: This gene belongs to the S100 fused-type protein (SFTP)
            gene family, and is located in a cluster of SFTP genes on
            chromosome 1q21. Several members of this family have been
            implicated in the development of complex skin disorders. This gene
            is evolutionarily conserved; its expression appears to be
            hair-specific and spatially restricted within the distal inner root
            sheath of the hair follicle. It thus may have an important role in
            hair morphogenesis. [provided by RefSeq, Aug 2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY456639.1, BC137493.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368806.2/ ENSP00000357796.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3603              AY456639.1         1-3603
            3604-3606           AL591893.9         61680-61682         c
FEATURES             Location/Qualifiers
     source          1..3606
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..3606
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /note="trichohyalin like 1"
                     /db_xref="GeneID:126637"
                     /db_xref="HGNC:HGNC:31796"
     exon            1..45
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            46..203
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..2780
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /note="intermediate filament-associated protein; S100
                     calcium-binding protein A17; basalin"
                     /codon_start=1
                     /product="trichohyalin-like protein 1"
                     /protein_id="NP_001008536.1"
                     /db_xref="CCDS:CCDS30857.1"
                     /db_xref="GeneID:126637"
                     /db_xref="HGNC:HGNC:31796"
                     /translation="MPQLLRNVLCVIETFHKYASEDSNGATLTGRELKQLIQGEFGDF
                     FQPCVLHAVEKNSNLLNIDSNGIISFDEFVLAIFNLLNLCYLDIKSLLSSELRQVTKP
                     EKEKLDDVDVQATTGDGQWTVGTSPTQEKRMLPSGMASSSQLIPEESGAVGNNRVDPW
                     REAKTHNFPGEASEHNDPKNKHLEGDEQSQEVAQDIQTTEDNEGQLKTNKPMAGSKKT
                     SSPTERKGQDKEISQEGDEPAREQSVSKIRDQFGEQEGNLATQSSPPKEATQRPCEDQ
                     EVRTEKEKHSNIQEPPLQREDEPSSQHADLPEQAAARSPSQTQKSTDSKDVCRMFDTQ
                     EPGKDADQTPAKTKNLGEPEDYGRTSETQEKECETKDLPVQYGSRNGSETSDMRDERK
                     ERRGPEAHGTAGQKERDRKTRPLVLETQTQDGKYQELQGLSKSKDAEKGSETQYLSSE
                     GGDQTHPELEGTAVSGEEAEHTKEGTAEAFVNSKNAPAAERTLGARERTQDLAPLEKQ
                     SVGENTRVTKTHDQPVEEEDGYQGEDPESPFTQSDEGSSETPNSLASEEGNSSSETGE
                     LPVQGDSQSQGDQHGESVQGGHNNNPDTQRQGTPGEKNRALEAVVPAVRGEDVQLTED
                     QEQPARGEHKNQGPGTKGPGAAVEPNGHPEAQESTAGDENRKSLEIEITGALDEDFTD
                     QLSLMQLPGKGDSRNELKVQGPSSKEEKGRATEAQNTLLESLDEDNSASLKIQLETKE
                     PVTSEEEDESPQELAGEGGDQKSPAKKEHNSSVPWSSLEKQMQRDQEPCSVERGAVYS
                     SPLYQYLQEKILQQTNVTQEEHQKQVQIAQASGPELCSVSLTSEISDCSVFFNYSQAS
                     QPYTRGLPLDESPAGAQETPAPQALEDKQGHPQRERLVLQREASTTKQ"
     exon            204..3606
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3586..3591
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /note="hexamer: ATTAAA"
     polyA_site      3606
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /note="major polyA site"
ORIGIN      
        1 acagcccgct gccccacgtt ctacctgctc tcgcttgtga actagcctct cctgagtttg
       61 taaagatgcc tcagctcctg agaaatgtcc tctgtgtaat tgagacattc cacaaatatg
      121 ccagtgagga cagtaacggg gcaacactga ctggcagaga gctgaaacaa ctcatccagg
      181 gcgagtttgg ggactttttt cagccctgtg tccttcatgc tgtggaaaaa aattcaaatc
      241 ttctgaatat tgacagtaat ggcatcatca gttttgatga atttgttctt gcaatcttca
      301 acttgttgaa cctctgttat cttgacataa aatcattact aagttctgaa ctaagacagg
      361 tgactaaacc agagaaggag aagctagatg atgtggatgt tcaggcaacc accggagatg
      421 gtcagtggac agtgggaact tcaccaactc aagaaaagag gatgcttcct tcaggaatgg
      481 catcatcatc tcagctcatc cctgaagaaa gtggagcagt tggaaataac agagtggacc
      541 catggagaga agccaagact cacaactttc caggagaagc atctgaacac aatgatccta
      601 agaacaaaca cctggaagga gatgaacaaa gtcaggaagt ggctcaagat atacaaacaa
      661 cagaagacaa tgaaggccaa cttaagacaa ataagccaat ggcaggatca aaaaagacca
      721 gcagtcccac agagaggaag ggacaagata aggagatctc ccaggaagga gatgaaccag
      781 ccagagagca aagtgtttcc aagataagag accagtttgg agaacaggaa ggaaacttgg
      841 caacccaaag ttcaccacca aaagaagcaa cacaaagacc atgtgaagat caggaagtta
      901 gaacagaaaa ggaaaaacac tctaatatac aagaaccacc cctacaaaga gaagatgagc
      961 ccagttcaca gcatgctgac ctgccagaac aagctgctgc caggtcacca tctcagacac
     1021 agaaatcaac tgattccaag gatgtctgta gaatgtttga cactcaagaa ccaggaaagg
     1081 atgctgacca gacaccagct aaaacaaaga atttgggtga acctgaggat tatggcagaa
     1141 catctgagac ccaagaaaaa gaatgtgaaa caaaggacct gccagtccaa tatggtagca
     1201 gaaatggttc agaaacatct gacatgagag atgaaaggaa agagaggaga ggtcctgagg
     1261 cccatggaac agcagggcag aaagaacgtg acagaaaaac tcggccacta gtcctggaaa
     1321 cccaaacaca ggatgggaag tatcaggaac tccaaggatt atcaaaatca aaagatgctg
     1381 aaaaaggttc tgagacacaa tatctaagct cagaaggagg agatcagact caccctgaac
     1441 ttgaaggaac agcagtctca ggagaagagg cagaacacac caaagaaggc acagcagaag
     1501 catttgtgaa cagcaaaaac gcacctgcag cagaaaggac actgggggca agagaaagaa
     1561 cacaagattt agcaccactt gagaagcagt ctgtaggaga aaatactagg gtcaccaaga
     1621 ctcatgacca accagttgag gaggaggatg gttaccaggg ggaggaccct gagtcaccat
     1681 tcacacagag tgatgagggg tcttctgaaa ctcccaacag cctggcttca gaggaaggca
     1741 atagcagctc agagacaggt gaactgcctg tgcaagggga ctcccagagt caaggggacc
     1801 aacatggaga gtctgtgcaa ggaggtcaca ataataaccc agatacccag aggcagggaa
     1861 cacctggtga gaaaaacaga gctctggagg cagtggtacc agcagtcaga ggagaggatg
     1921 tacagctcac agaggaccag gaacagcctg ccagaggaga acacaagaat caaggcccag
     1981 ggaccaaagg cccaggtgca gctgtggagc ccaatggaca cccagaagca caggaatcca
     2041 cagcaggaga tgaaaataga aagtccctgg aaatagagat cacaggtgcc ctggatgaag
     2101 acttcactga ccagctttcc ctaatgcagc tccctggaaa gggagatagc agaaatgaat
     2161 taaaggtcca aggcccaagt agcaaagaag agaaaggaag agcaacagag gcccagaata
     2221 ctctgttaga aagtctagat gaggacaatt cagcctccct caagatacaa cttgaaacaa
     2281 aggaacctgt aacatcagag gaggaagatg aaagtcccca agagctggca ggagaaggtg
     2341 gtgaccaaaa aagtccagcc aagaaagagc acaattcttc agtcccctgg tcaagtcttg
     2401 aaaagcagat gcagagagac caagagccct gttctgtgga gaggggtgca gtctattcca
     2461 gtccactata ccagtaccta caggagaaga tactgcagca aacaaatgta acccaagagg
     2521 agcatcaaaa gcaagttcag atagcccagg catcaggccc agagctttgc agtgtatccc
     2581 tcaccagtga gatctcagat tgttctgtct ttttcaacta cagccaagca tcacaaccat
     2641 ataccagggg acttccactt gatgagagtc ctgctggtgc acaggaaaca ccagctcccc
     2701 aggccttgga agataagcaa ggtcaccctc agagagagag gctggtacta caaagggagg
     2761 caagcaccac aaagcaatga atcattatca tctcaacatg cccccaattt ctctcccaat
     2821 caccctcaat actcacgtgt acacattcag atgcagatta acaatctttt aaattctctt
     2881 cctaaatttc tacaaaaaca aataataaaa tattcagcag tgggggacac cactaaagaa
     2941 acatctgagc aaacaaatac agtcagtaaa actcctacca aacaatgcta cttccaaatg
     3001 ccaaaatggg ctttgtcatg agacagttta tctcaatgta cctgtcatta aaaatggaaa
     3061 aattccttcc atatctttag caggtgccag tttttccaac tgattcattg aatttaaaat
     3121 agagcagtag gaaattataa gactctgcaa taatatctca taatcataaa atattaattc
     3181 atatatatag attactctgc ttcatgacat ttcctagaag tatttcaagt tcatcctaaa
     3241 attttatcct tcaaaataat tttagacaat gccataactt aattatgatt ttctagcact
     3301 tgattaaagt aaatttatga ctctgctcat gttcaggtgc agctgaatct atcgccatgg
     3361 attcattctt tcaattactc atccaacaaa tttttattaa atcccactcc ttacacaaac
     3421 ttttcatagc ttttggctca aataaacaat caagaataat tatgagagaa aacacaaatc
     3481 taaagtatgt ttgattttat aagaagctct tgtaaccaac catccagtga gtctactaag
     3541 tgtttaccta tatggtttga tgagggtatt aaattaaaat tgataattaa acaacctgat
     3601 gatcaa
//
