LOCUS       NM_018194               3639 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 1,
            mRNA.
ACCESSION   NM_018194
VERSION     NM_018194.6
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 3639)
  AUTHORS   Rjiba,K., Mougou-Zerelli,S., Hamida,I.H., Saad,G., Khadija,B.,
            Jelloul,A., Slimani,W., Hasni,Y., Dimassi,S., Khelifa,H.B.,
            Sallem,A., Kammoun,M., Abdallah,H.H., Gribaa,M.,
            Bignon-Topalovic,J., Chelly,S., Khairi,H., Bibi,M., Kacem,M.,
            Saad,A., Bashamboo,A. and McElreavey,K.
  TITLE     Additional evidence for the role of chromosomal imbalances and
            SOX8, ZNRF3 and HHAT gene variants in early human testis
            development
  JOURNAL   Reprod Biol Endocrinol 21 (1), 2 (2023)
   PUBMED   36631813
  REMARK    GeneRIF: Additional evidence for the role of chromosomal imbalances
            and SOX8, ZNRF3 and HHAT gene variants in early human testis
            development.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3639)
  AUTHORS   Schonbrun,A.R. and Resh,M.D.
  TITLE     Hedgehog acyltransferase catalyzes a random sequential reaction and
            utilizes multiple fatty acyl-CoA substrates
  JOURNAL   J Biol Chem 298 (10), 102422 (2022)
   PUBMED   36030053
  REMARK    GeneRIF: Hedgehog acyltransferase catalyzes a random sequential
            reaction and utilizes multiple fatty acyl-CoA substrates.
REFERENCE   3  (bases 1 to 3639)
  AUTHORS   Mazen,I., Kamel,A., McElreavey,K., Bashamboo,A., Elaidy,A. and
            Abdel-Hamid,M.S.
  TITLE     A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT)
            Gene Associated with 46,XY Gonadal Dysgenesis
  JOURNAL   Sex Dev 16 (4), 261-265 (2022)
   PUBMED   35045414
  REMARK    GeneRIF: A Homozygous Missense Variant in Hedgehog Acyltransferase
            (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.
REFERENCE   4  (bases 1 to 3639)
  AUTHORS   Coupland,C.E., Andrei,S.A., Ansell,T.B., Carrique,L., Kumar,P.,
            Sefer,L., Schwab,R.A., Byrne,E.F.X., Pardon,E., Steyaert,J.,
            Magee,A.I., Lanyon-Hogg,T., Sansom,M.S.P., Tate,E.W. and Siebold,C.
  TITLE     Structure, mechanism, and inhibition of Hedgehog acyltransferase
  JOURNAL   Mol Cell 81 (24), 5025-5038 (2021)
   PUBMED   34890564
  REMARK    GeneRIF: Structure, mechanism, and inhibition of Hedgehog
            acyltransferase.
REFERENCE   5  (bases 1 to 3639)
  AUTHORS   Jiang,Y., Benz,T.L. and Long,S.B.
  TITLE     Substrate and product complexes reveal mechanisms of Hedgehog
            acylation by HHAT
  JOURNAL   Science 372 (6547), 1215-1219 (2021)
   PUBMED   34112694
  REMARK    GeneRIF: Substrate and product complexes reveal mechanisms of
            Hedgehog acylation by HHAT.
REFERENCE   6  (bases 1 to 3639)
  AUTHORS   Rodriguez-Blanco,J., Schilling,N.S., Tokhunts,R., Giambelli,C.,
            Long,J., Liang Fei,D., Singh,S., Black,K.E., Wang,Z.,
            Galimberti,F., Bejarano,P.A., Elliot,S., Glassberg,M.K.,
            Nguyen,D.M., Lockwood,W.W., Lam,W.L., Dmitrovsky,E.,
            Capobianco,A.J. and Robbins,D.J.
  TITLE     The hedgehog processing pathway is required for NSCLC growth and
            survival
  JOURNAL   Oncogene 32 (18), 2335-2345 (2013)
   PUBMED   22733134
  REMARK    GeneRIF: SKN is necessary for the proliferation of the non-small
            cell lung carcinoma cells
REFERENCE   7  (bases 1 to 3639)
  AUTHORS   Blanchet,M., Seidah,N.G. and Labonte,P.
  TITLE     SKI-1/S1P inhibition: a promising surrogate to statins to block
            hepatitis C virus replication
  JOURNAL   Antiviral Res 95 (2), 159-166 (2012)
   PUBMED   22626636
  REMARK    GeneRIF: SKI-1/S1P activity is thus essential for hepatitis C virus
            production and its inhibition should be considered for antiviral
            drug development.
            Review article
REFERENCE   8  (bases 1 to 3639)
  AUTHORS   Buglino,J.A. and Resh,M.D.
  TITLE     Hhat is a palmitoylacyltransferase with specificity for
            N-palmitoylation of Sonic Hedgehog
  JOURNAL   J Biol Chem 283 (32), 22076-22088 (2008)
   PUBMED   18534984
REFERENCE   9  (bases 1 to 3639)
  AUTHORS   Chamoun,Z., Mann,R.K., Nellen,D., von Kessler,D.P., Bellotto,M.,
            Beachy,P.A. and Basler,K.
  TITLE     Skinny hedgehog, an acyltransferase required for palmitoylation and
            activity of the hedgehog signal
  JOURNAL   Science 293 (5537), 2080-2084 (2001)
   PUBMED   11486055
REFERENCE   10 (bases 1 to 3639)
  AUTHORS   Kawakami,Y., Wang,X., Shofuda,T., Sumimoto,H., Tupesis,J.,
            Fitzgerald,E. and Rosenberg,S.
  TITLE     Isolation of a new melanoma antigen, MART-2, containing a mutated
            epitope recognized by autologous tumor-infiltrating T lymphocytes
  JOURNAL   J Immunol 166 (4), 2871-2877 (2001)
   PUBMED   11160356
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035414.30, AK299200.1, AK001586.1, AL034351.1, AL691441.8 and
            AC217414.3.
            
            On Nov 23, 2018 this sequence version replaced NM_018194.5.
            
            Summary: 'Skinny hedgehog' (SKI1) encodes an enzyme that acts
            within the secretory pathway to catalyze amino-terminal
            palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM,
            Jul 2002].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform (1). Variants 1, 2 and 6 encode the
            same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803615.101704.1,
                                           SRR1803616.19877.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261458.8/ ENSP00000261458.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AL035414.30        110641-110658
            19-51               AK299200.1         1-33
            52-250              AK001586.1         2-200
            251-251             AL035414.30        130719-130719
            252-779             AK001586.1         202-729
            780-780             AL034351.1         82550-82550         c
            781-1593            AK001586.1         731-1543
            1594-1594           AL691441.8         22453-22453
            1595-1750           AK001586.1         1545-1700
            1751-3639           AC217414.3         712-2600            c
FEATURES             Location/Qualifiers
     source          1..3639
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2"
     gene            1..3639
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /note="hedgehog acyltransferase"
                     /db_xref="GeneID:55733"
                     /db_xref="HGNC:HGNC:18270"
                     /db_xref="MIM:605743"
     exon            1..203
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     exon            204..337
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     CDS             247..1728
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein-cysteine N-palmitoyltransferase HHAT; skinny
                     hedgehog protein 1; melanoma antigen recognized by T-cells
                     2"
                     /codon_start=1
                     /product="protein-cysteine N-palmitoyltransferase HHAT
                     isoform 1"
                     /protein_id="NP_060664.2"
                     /db_xref="CCDS:CCDS1495.1"
                     /db_xref="GeneID:55733"
                     /db_xref="HGNC:HGNC:18270"
                     /db_xref="MIM:605743"
                     /translation="MLPRWELALYLLASLGFHFYSFYEVYKVSREHEEELDQEFELET
                     DTLFGGLKKDATDFEWSFWMEWGKQWLVWLLLGHMVVSQMATLLARKHRPWILMLYGM
                     WACWCVLGTPGVAMVLLHTTISFCVAQFRSQLLTWLCSLLLLSTLRLQGVEEVKRRWY
                     KTENEYYLLQFTLTVRCLYYTSFSLELCWQQLPAASTSYSFPWMLAYVFYYPVLHNGP
                     ILSFSEFIKQMQQQEHDSLKASLCVLALGLGRLLCWWWLAELMAHLMYMHAIYSSIPL
                     LETVSCWTLGGLALAQVLFFYVKYLVLFGVPALLMRLDGLTPPALPRCVSTMFSFTGM
                     WRYFDVGLHNFLIRYVYIPVGGSQHGLLGTLFSTAMTFAFVSYWHGGYDYLWCWAALN
                     WLGVTVENGVRRLVETPCIQDSLARYFSPQARRRFHAALASCSTSMLILSNLVFLGGN
                     EVGKTYWNRIFIQGWPWVTLSVLGFLYCYSHVGIAWAQTYATD"
     exon            338..405
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     exon            406..519
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     exon            520..714
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     exon            715..930
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1102
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1253
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1289
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     exon            1290..1491
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     exon            1492..1636
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..3639
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3619..3624
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /note="hexamer: AATAAA"
     polyA_site      3639
                     /gene="HHAT"
                     /gene_synonym="MART2; NNMS; SKI1; Skn"
                     /note="major polyA site"
ORIGIN      
        1 gggcacggcg gcaggggcgt gctcggagga cgcgcgctgc gctgctcctc caaagggcag
       61 ctccggggga aagagggtgg cgtcccgggg aagcccgcag ccgccgccga tgtcgctggg
      121 actcggaagt gccgaaagag gggtgttggg aactcgcggc gcgcgtgaac gttgccgtcg
      181 ccgccgcccg ggacagcccg gagaaactct cagcgtaggc atcgggaacc ttcgtgccaa
      241 ggagccatgc tgccccgatg ggaactggca ctttacctac ttgcctcact aggcttccac
      301 ttctattcct tctatgaagt ttacaaagtc tccagagaac acgaagagga gctggaccag
      361 gaatttgagc tggagactga cactttattt ggaggattaa agaaggatgc gaccgacttt
      421 gagtggagct tctggatgga atgggggaag cagtggctgg tgtggcttct ccttggccac
      481 atggtagtgt ctcaaatggc cacactgctg gcaagaaagc acagaccctg gattctcatg
      541 ctctatggga tgtgggcctg ctggtgtgtg ctggggaccc ctggtgtggc tatggttttg
      601 ctccatacca ccatctcttt ctgcgtggcc cagttccggt ctcagctcct gacgtggctc
      661 tgttctctcc tcctcctctc cacactgagg ctgcagggtg tggaagaagt taagagaagg
      721 tggtacaaga cagaaaacga gtactacctg ctgcagttca cgctgaccgt tcgctgcctg
      781 tactacacca gcttcagcct ggagctctgc tggcagcagc tgcctgctgc atcgacctcc
      841 tactcctttc cctggatgct ggcctatgtc ttttattatc cagtcttaca caatgggccc
      901 atcctcagct tctcggagtt catcaaacag atgcagcagc aggagcatga ctccctgaag
      961 gccagcctgt gtgtcctggc cctggggctg ggccgccttc tttgctggtg gtggctggcc
     1021 gagctgatgg ctcacctgat gtacatgcat gccatctaca gcagcatccc cctcctggag
     1081 actgtctctt gttggacctt aggaggactg gcgttagccc aggtgctctt tttctacgtg
     1141 aagtacttgg tgctctttgg cgtgcctgct ctgctcatgc gcctggatgg actcactcca
     1201 cccgccctcc cccgctgcgt gagcaccatg ttcagtttca ccgggatgtg gaggtatttt
     1261 gatgttggac tgcataattt cttaatcagg tatgtgtaca ttccagtggg cgggtcccag
     1321 catggcctgc tggggacact gttttccacg gcgatgacat ttgcatttgt gagctactgg
     1381 catggcggct acgactacct ctggtgctgg gcagcgctca actggctggg agtcactgtg
     1441 gagaatggag tccggaggct ggtggagact ccctgcatcc aggacagtct ggcccgatac
     1501 ttctccccac aagctcgccg tcgattccac gctgcccttg cttcttgttc cacctcgatg
     1561 ctgatcctgt ccaacctggt atttcttggg ggcaatgagg ttgggaaaac ctactggaat
     1621 aggatcttca tacaaggctg gccttgggtg accctctctg tcctgggatt cctgtactgc
     1681 tactcccacg tgggcattgc ctgggcccag acctacgcca cggactaatg ctgttgggcc
     1741 caggccagtc cttgttgctg gcctccaagg caaatagtgc ttcaccctga cctctcactc
     1801 caggacagcc tctaagggat ttgatctgct catcttcagt tgaatgccct cactccaaga
     1861 ctggatgctg gatctcatag aaaattcaca gccagacaat cttctaatct ggagtctttg
     1921 agatcttcta ccccaactca tcattttcct attgaggaaa cgggtccagg gcagtcgtgt
     1981 gtcttaccca gctacacagg gtgacatttt ggtctagaac ctagtctcat gagccctttg
     2041 cattctttcc ccttaagcaa gaatagaatg tagtggaaat ttattgattg agacacagaa
     2101 atcctgatta gtgataggcc tgtcttctgg gcaatatttc taaaatattt gagtgacatt
     2161 gatgtttaag tgacctcctt catcacatcc tgcagtatct ccagaagcag cactagggtt
     2221 tgagtttcat gcttcagccc ctctgtagga atgagaccaa gccacagctg tcttttgaat
     2281 tacgtagtcg aagaagacgg tagcagccct gtagcattct aaggcatcta tacccaagga
     2341 gtcctgtgat ctgagcttca gcagggtgat ctacatttgg gtgcttgttt ctgagatttg
     2401 cagagaagta taacatggta gttcctctac cttacagtta atcgtttctt aataaagaag
     2461 cagaatttag aaaccacagg atagtgtacc cacagatggg tgttatcaag gccagtcatg
     2521 aggatggtgt cctggagtct tgtccaccct ctccatacaa gtctcaaaag tcatcctcct
     2581 actcagtgat tcacgtttag tggtttatat tattaaggtt tgattcaaac agagcctttt
     2641 ctgtcctgta gataatctac atgtttgtag aattattttg aatatgtttg aggaaaatgt
     2701 ttaaaatcta aatatactca cataacttga ttattcactc ctctgaaaag atgctggata
     2761 ggctaccaaa gttcccaagt ggtagataat tcagaagact tgtttgaatt tggatttttt
     2821 ttttttttgg agtggggaag ggtataaagg aggcttaaaa tttgaatcca taatatatct
     2881 aattacagga gaatttacaa catctcaagt acgtaaatta agttgtcatt gagtgaaagg
     2941 ttcacttgga cctagtgctg cctcctgttt attacatagc atggccctta tgtcttgagt
     3001 tgaggttatc atctcaatga ggctttagct cctagagtac aggaccattt tgttgattgt
     3061 ctttcttcat agcttctctg cttggcaaag agatgggagg gggccagata ctgactacct
     3121 ggggtaggca cattatgtgt taaagcaaga cagaggccag agaggggcag gtagacctgc
     3181 atagcagcag cctcagcagc tgtcttggta aaggagagag agagacatgg ggccagtaat
     3241 tccggggtgc tcagaagttt taggagggga tgagcctcag ggaggagtga gcacctaaat
     3301 gaacgcagta aaccttcatg gaccaacagt gattgaggat ttgtgggcag ccagagggag
     3361 tctgactgaa gtttacttgg aaagaaaggg cttgctaaga aaaaagggag taaaaatgat
     3421 gatagggaag tgtctaatgt atgtgcacat ataagtaata caaaagtttt gagctcttcc
     3481 aagtatacca tttatataca aacaaatagg tttattcatt cattaaacta ctttggaagc
     3541 gtcagtggat atatttgaaa gtggtaatcc tgaatctctt ttaaactatt atatgattca
     3601 taatggttct caggaattaa taaatgatta ctgtgttta
//
