LOCUS       NM_001134793            1451 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens HYLS1 centriolar and ciliogenesis associated (HYLS1),
            transcript variant 2, mRNA.
ACCESSION   NM_001134793
VERSION     NM_001134793.2
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 1451)
  AUTHORS   Ghesh,L., Musquer,M.D., Devisme,L., Stichelbout,M., Boutaud,L.,
            Elkhartoufi,N., Vaast,P., Boute,O., Riteau,A.S., Le Vaillant,C.,
            Winer,N., Joubert,M., Bezieau,S., Thomas,S., Attie-Bitach,T. and
            Beneteau,C.
  TITLE     The first two non-Finnish HYLS1 variants: Expanding the phenotypic
            spectrum of hydrolethalus syndrome
  JOURNAL   Clin Genet 100 (4), 462-467 (2021)
   PUBMED   34212369
  REMARK    GeneRIF: The first two non-Finnish HYLS1 variants: Expanding the
            phenotypic spectrum of hydrolethalus syndrome.
REFERENCE   2  (bases 1 to 1451)
  AUTHORS   Oka,M., Shimojima,K., Yamamoto,T., Hanaoka,Y., Sato,S.,
            Yasuhara,T., Yoshinaga,H. and Kobayashi,K.
  TITLE     A novel HYLS1 homozygous mutation in living siblings with Joubert
            syndrome
  JOURNAL   Clin Genet 89 (6), 739-743 (2016)
   PUBMED   26830932
  REMARK    GeneRIF: The homozygous mutation of the hydrolethalus syndrome 1
            gene (HYLS1) was identified in a consanguinity family in a 17 year
            old male and his 11 year old younger brother.
REFERENCE   3  (bases 1 to 1451)
  AUTHORS   Jakobsen,L., Vanselow,K., Skogs,M., Toyoda,Y., Lundberg,E.,
            Poser,I., Falkenby,L.G., Bennetzen,M., Westendorf,J., Nigg,E.A.,
            Uhlen,M., Hyman,A.A. and Andersen,J.S.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   4  (bases 1 to 1451)
  AUTHORS   Dammermann,A., Pemble,H., Mitchell,B.J., McLeod,I., Yates,J.R. 3rd,
            Kintner,C., Desai,A.B. and Oegema,K.
  TITLE     The hydrolethalus syndrome protein HYLS-1 links core centriole
            structure to cilia formation
  JOURNAL   Genes Dev 23 (17), 2046-2059 (2009)
   PUBMED   19656802
REFERENCE   5  (bases 1 to 1451)
  AUTHORS   Paetau,A., Honkala,H., Salonen,R., Ignatius,J., Kestila,M. and
            Herva,R.
  TITLE     Hydrolethalus syndrome: neuropathology of 21 cases confirmed by
            HYLS1 gene mutation analysis
  JOURNAL   J Neuropathol Exp Neurol 67 (8), 750-762 (2008)
   PUBMED   18648327
  REMARK    GeneRIF: Despite variation in the clinicopathologic phenotype, all
            cases in the series carried the same homozygous missense mutation
            in HYLS1
REFERENCE   6  (bases 1 to 1451)
  AUTHORS   Mee,L., Honkala,H., Kopra,O., Vesa,J., Finnila,S., Visapaa,I.,
            Sang,T.K., Jackson,G.R., Salonen,R., Kestila,M. and Peltonen,L.
  TITLE     Hydrolethalus syndrome is caused by a missense mutation in a novel
            gene HYLS1
  JOURNAL   Hum Mol Genet 14 (11), 1475-1488 (2005)
   PUBMED   15843405
REFERENCE   7  (bases 1 to 1451)
  AUTHORS   Visapaa,I., Salonen,R., Varilo,T., Paavola,P. and Peltonen,L.
  TITLE     Assignment of the locus for hydrolethalus syndrome to a highly
            restricted region on 11q23-25
  JOURNAL   Am J Hum Genet 65 (4), 1086-1095 (1999)
   PUBMED   10486328
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK127394.1 and AP000842.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 20, 2019 this sequence version replaced NM_001134793.1.
            
            Summary: This gene encodes a protein localized to the cytoplasm.
            Mutations in this gene are associated with hydrolethalus syndrome.
            Multiple alternatively spliced variants, encoding the same protein,
            have been identified. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK127394.1, SRR14038196.3630067.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000425380.7/ ENSP00000414884.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-109               AK127394.1         609-717
            110-263             AK127394.1         721-874
            264-264             AP000842.6         61724-61724
            265-1451            AK127394.1         876-2062
FEATURES             Location/Qualifiers
     source          1..1451
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..1451
                     /gene="HYLS1"
                     /gene_synonym="HLS"
                     /note="HYLS1 centriolar and ciliogenesis associated"
                     /db_xref="GeneID:219844"
                     /db_xref="HGNC:HGNC:26558"
                     /db_xref="MIM:610693"
     exon            1..98
                     /gene="HYLS1"
                     /gene_synonym="HLS"
                     /inference="alignment:Splign:2.1.0"
     exon            99..148
                     /gene="HYLS1"
                     /gene_synonym="HLS"
                     /inference="alignment:Splign:2.1.0"
     exon            149..1451
                     /gene="HYLS1"
                     /gene_synonym="HLS"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..1073
                     /gene="HYLS1"
                     /gene_synonym="HLS"
                     /note="hydrolethalus syndrome protein 1; hydrolethalus
                     syndrome 1"
                     /codon_start=1
                     /product="centriolar and ciliogenesis-associated protein
                     HYLS1"
                     /protein_id="NP_001128265.1"
                     /db_xref="CCDS:CCDS8467.1"
                     /db_xref="GeneID:219844"
                     /db_xref="HGNC:HGNC:26558"
                     /db_xref="MIM:610693"
                     /translation="MEELLPDGQIWANMDPEERMLAAATAFTHICAGQGEGDVRREAQ
                     SIQYDPYSKASVAPGKRPALPVQLQYPHVESNVPSETVSEASQRLRKPVMKRKVLRRK
                     PDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEY
                     QGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFE
                     YKRDWDSIRLPGEDHRKELRWGVREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALR
                     WGVRCDLANGVIPRKLPFPLSPS"
     regulatory      1430..1435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HYLS1"
                     /gene_synonym="HLS"
                     /note="hexamer: ATTAAA"
     polyA_site      1451
                     /gene="HYLS1"
                     /gene_synonym="HLS"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgcctg cgcaagttac gcgaaagcta acagaatctg cggtgctctg ctggcgactg
       61 gcaggacgcg gtgcagagag cggacttccg cgacgcgggt ttttttttta cttgaatgta
      121 aataccaatc aagatacatt gaaataagaa ggtcctacag tgtaggggaa gcaatggaag
      181 aacttctacc tgatggacaa atatgggcta atatggatcc agaagaacga atgttggcag
      241 ctgctacagc ttttacccac atctgtgcag ggcagggtga aggagatgtc aggagagaag
      301 cccaatctat ccaatatgat ccctacagta aagcttcagt agccccaggg aagcgacctg
      361 ctcttcctgt gcaactacag tacccacatg tagaaagtaa tgtcccttca gaaacagtct
      421 ctgaggcctc ccaaagactc cgaaagccag tgatgaagag aaaggtgctg cgcagaaagc
      481 cagatgggga agtattagta acagatgagt cgattatcag tgaatcagaa tctggtacag
      541 aaaatgatca ggatctctgg gacttaagac aaaggctgat gaatgtacag ttccaggaag
      601 acaaggaatc ttcatttgat gtttcacaaa aatttaacct accacatgaa taccaaggaa
      661 tttctcaaga tcagctcatt tgctctctac aaagagaagg aatgggctct ccagcttacg
      721 aacaagacct gattgttgcc agcagaccca agtcctttat tctcccaaag ctggaccagt
      781 taagccgaaa ccggggcaag acagaccggg tagcccggta ttttgagtac aaacgggact
      841 gggactcaat acgtttacct ggtgaagatc atagaaagga attacgctgg ggtgtccgag
      901 agcagatgct ttgtcgagca gaaccccaat ccaaacctca gcatatatat gtcccaaaca
      961 attatctagt accaacagag aagaaaaggt ctgcactccg ttggggtgtt cgttgtgacc
     1021 ttgcaaatgg tgtcataccc aggaagcttc ccttccctct ttctccttct taaatctttt
     1081 taaacttctt tcacaggatt gtttgagata acctagctct ttatatcttc ccttttaaat
     1141 agaaacaact gtcttgagaa gctcttcgaa acattttatg gtaaggactt cacctatcat
     1201 tggtctttcc tagctatata tcacattggt atcagatgat acttccaaat tgccactcaa
     1261 atccagcaat tgcaagataa atcatatcag agaaagaaca acagacctgg tctttctatt
     1321 ttgtcaaatt agtaagggcc ctttgtgtcc tgtaactttt tttacctatc aatatgagtt
     1381 gctgtgcttc agtgtgtgtt ttttaagttg ctgggcatta cacttaccaa ttaaagaatt
     1441 ttggaaattc a
//
