LOCUS       NM_020792               4536 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1),
            transcript variant 2, mRNA.
ACCESSION   NM_020792
VERSION     NM_020792.6
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 4536)
  AUTHORS   Wagner,C., Hois,V., Eggeling,A., Pusch,L.M., Pajed,L.,
            Starlinger,P., Claudel,T., Trauner,M., Zimmermann,R., Taschler,U.
            and Lass,A.
  TITLE     KIAA1363 affects retinyl ester turnover in cultured murine and
            human hepatic stellate cells
  JOURNAL   J Lipid Res 63 (3), 100173 (2022)
   PUBMED   35101424
  REMARK    GeneRIF: KIAA1363 affects retinyl ester turnover in cultured murine
            and human hepatic stellate cells.
REFERENCE   2  (bases 1 to 4536)
  AUTHORS   Xiao,Y., Xie,J., Liu,L., Huang,W., Han,Q., Qin,J., Liu,S. and
            Jiang,Z.
  TITLE     NAD(P)-dependent steroid dehydrogenase-like protein and neutral
            cholesterol ester hydrolase 1 serve as novel markers for early
            detection of gastric cancer identified using quantitative
            proteomics
  JOURNAL   J Clin Lab Anal 35 (2), e23652 (2021)
   PUBMED   33219617
  REMARK    GeneRIF: NAD(P)-dependent steroid dehydrogenase-like protein and
            neutral cholesterol ester hydrolase 1 serve as novel markers for
            early detection of gastric cancer identified using quantitative
            proteomics.
REFERENCE   3  (bases 1 to 4536)
  AUTHORS   Matsuoka,H., Tokunaga,R., Katayama,M., Hosoda,Y., Miya,K., Sumi,K.,
            Ohishi,A., Kamishikiryo,J., Shima,A. and Michihara,A.
  TITLE     Retinoic acid receptor-related orphan receptor alpha reduces lipid
            droplets by upregulating neutral cholesterol ester hydrolase 1 in
            macrophages
  JOURNAL   BMC Mol Cell Biol 21 (1), 32 (2020)
   PUBMED   32321446
  REMARK    GeneRIF: Retinoic acid receptor-related orphan receptor alpha
            reduces lipid droplets by upregulating neutral cholesterol ester
            hydrolase 1 in macrophages.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4536)
  AUTHORS   Zhang,S., Glukhova,S.A., Caldwell,K.A. and Caldwell,G.A.
  TITLE     NCEH-1 modulates cholesterol metabolism and protects against
            alpha-synuclein toxicity in a C. elegans model of Parkinson's
            disease
  JOURNAL   Hum Mol Genet 26 (19), 3823-3836 (2017)
   PUBMED   28934392
  REMARK    GeneRIF: Authors discovered that the presence of cholesterol,
            LDLR-mediated cholesterol endocytosis, and cholesterol efflux are
            all essential to NCEH-1-mediated neuroprotection. In protecting
            from alpha-synuclein neurotoxicity, NCEH-1 also stimulates
            cholesterol-derived neurosteroid formation and lowers cellular
            reactive oxygen species in mitochondria.
REFERENCE   5  (bases 1 to 4536)
  AUTHORS   Cheung,L., Fisher,R.M., Kuzmina,N., Li,D., Li,X., Werngren,O.,
            Blomqvist,L., Stahle,M. and Landen,N.X.
  TITLE     Psoriasis Skin Inflammation-Induced microRNA-26b Targets NCEH1 in
            Underlying Subcutaneous Adipose Tissue
  JOURNAL   J Invest Dermatol 136 (3), 640-648 (2016)
   PUBMED   27015452
  REMARK    GeneRIF: Psoriasis inflammation induced microRNA targets NCEH1 in
            underlying subcutaneous adipose tissue.
REFERENCE   6  (bases 1 to 4536)
  AUTHORS   Yoshida,T., Kato,K., Yokoi,K., Oguri,M., Watanabe,S., Metoki,N.,
            Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
  TITLE     Association of genetic variants with hemorrhagic stroke in Japanese
            individuals
  JOURNAL   Int J Mol Med 25 (4), 649-656 (2010)
   PUBMED   20198315
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4536)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   8  (bases 1 to 4536)
  AUTHORS   Oguri,M., Kato,K., Yokoi,K., Yoshida,T., Watanabe,S., Metoki,N.,
            Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
  TITLE     Assessment of a polymorphism of SDK1 with hypertension in Japanese
            Individuals
  JOURNAL   Am J Hypertens 23 (1), 70-77 (2010)
   PUBMED   19851296
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 4536)
  AUTHORS   Okazaki,H., Igarashi,M., Nishi,M., Sekiya,M., Tajima,M., Takase,S.,
            Takanashi,M., Ohta,K., Tamura,Y., Okazaki,S., Yahagi,N., Ohashi,K.,
            Amemiya-Kudo,M., Nakagawa,Y., Nagai,R., Kadowaki,T., Osuga,J. and
            Ishibashi,S.
  TITLE     Identification of neutral cholesterol ester hydrolase, a key enzyme
            removing cholesterol from macrophages
  JOURNAL   J Biol Chem 283 (48), 33357-33364 (2008)
   PUBMED   18782767
  REMARK    GeneRIF: NCEH is responsible for a major part of nCEH activity in
            macrophages and may be a potential therapeutic target for the
            prevention of atherosclerosis.
REFERENCE   10 (bases 1 to 4536)
  AUTHORS   Chiang,K.P., Niessen,S., Saghatelian,A. and Cravatt,B.F.
  TITLE     An enzyme that regulates ether lipid signaling pathways in cancer
            annotated by multidimensional profiling
  JOURNAL   Chem Biol 13 (10), 1041-1050 (2006)
   PUBMED   17052608
  REMARK    GeneRIF: The KIAA1363, an uncharacterized enzyme highly elevated in
            aggressive cancer cells, serves as a central node in an ether lipid
            signaling network that bridges platelet-activating factor and
            lysophosphatidic acid.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA856205.1, BC028734.1, AC007919.18 and BP395319.1.
            
            On Jun 2, 2019 this sequence version replaced NM_020792.5.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1. This
            results in a shorter protein (isoform b) compared to isoform a.
            
            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 :: BC047588.1, AB037784.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000475381.7/ ENSP00000418571.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-76                DA856205.1         141-216
            77-2537             BC028734.1         233-2693
            2538-4062           AC007919.18        111519-113043       c
            4063-4140           BP395319.1         182-259
            4141-4536           AC007919.18        111045-111440       c
FEATURES             Location/Qualifiers
     source          1..4536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.31"
     gene            1..4536
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
                     /note="neutral cholesterol ester hydrolase 1"
                     /db_xref="GeneID:57552"
                     /db_xref="HGNC:HGNC:29260"
                     /db_xref="MIM:613234"
     exon            1..221
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1310
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
                     /EC_number="3.1.1.71"
                     /note="isoform b is encoded by transcript variant 2;
                     arylacetamide deacetylase-like 1; alkylacetylglycerol
                     acetylhydrolase; acetylalkylglycerol acetylhydrolase;
                     2-acetyl MAGE hydrolase"
                     /codon_start=1
                     /product="neutral cholesterol ester hydrolase 1 isoform b"
                     /protein_id="NP_065843.4"
                     /db_xref="CCDS:CCDS33893.2"
                     /db_xref="GeneID:57552"
                     /db_xref="HGNC:HGNC:29260"
                     /db_xref="MIM:613234"
                     /translation="MRSSCVLLTALVALAAYYVYIPLPGSVSDPWKLMLLDATFRGAQ
                     QVSNLIHYLGLSHHLLALNFIIVSFGKKSAWSSAQVKVTDTDFDGVEVRVFEGPPKPE
                     EPLKRSVVYIHGGGWALASAKIRYYDELCTAMAEELNAVIVSIEYRLVPKVYFPEQIH
                     DVVRATKYFLKPEVLQKYMVDPGRICISGDSAGGNLAAALGQQFTQDASLKNKLKLQA
                     LIYPVLQALDFNTPSYQQNVNTPILPRYVMVKYWVDYFKGNYDFVQAMIVNNHTSLDV
                     EEAAAVRARLNWTSLLPASFTKNYKPVVQTTGNARIVQELPQLLDARSAPLIADQAVL
                     QLLPKTYILTCEHDVLRDDGIMYAKRLESAGVEVTLDHFEDGFHGCMIFTSWPTNFSV
                     GIRTRNSYIKWLDQNL"
     exon            222..450
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
                     /inference="alignment:Splign:2.1.0"
     exon            451..520
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
                     /inference="alignment:Splign:2.1.0"
     exon            521..692
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
                     /inference="alignment:Splign:2.1.0"
     exon            693..4536
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4108..4113
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
                     /note="hexamer: AATAAA"
     polyA_site      4130
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
                     /note="major polyA site"
     regulatory      4514..4519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
                     /note="hexamer: AATAAA"
     polyA_site      4536
                     /gene="NCEH1"
                     /gene_synonym="AADACL1; NCEH"
ORIGIN      
        1 gcgggcagaa agttgccgga ggtctccggg tggtatcgcc ctttcctctt tgccagcccg
       61 ctggcgagcc gagccagggc aagatgaggt cgtcctgtgt cctgctcacc gccctggtgg
      121 cgctggccgc ctattacgtc tacatcccgc tgcctggctc cgtgtccgac ccctggaagc
      181 tgatgctgct ggacgccact ttccggggtg cacagcaagt gagtaacctg atccactacc
      241 tgggactgag ccatcacctg ctggcactga attttatcat tgtttctttt ggcaaaaaaa
      301 gcgcgtggtc ttctgcccaa gtgaaggtga ccgacacaga ctttgatggt gtggaagtca
      361 gagtgtttga aggccctccg aagcccgaag agccactgaa acgcagcgtc gtttatatcc
      421 acggaggagg ctgggccttg gcaagtgcaa aaatcaggta ttatgatgag ctgtgtacag
      481 caatggctga ggaattgaat gctgtcattg tttccattga atacaggcta gttccaaagg
      541 tttattttcc tgagcaaatt catgatgttg tacgggccac aaagtatttc ctgaagccag
      601 aagtcttaca gaagtatatg gttgatccag gcagaatttg catttctggt gacagtgctg
      661 gtggaaatct ggctgctgcc cttggacaac agtttactca agatgccagc ctaaaaaata
      721 agctcaaact acaagcttta atttatccag ttcttcaagc tttagatttt aacacaccat
      781 cttatcagca aaatgtgaac accccaatcc tgccccgcta tgtcatggtg aagtattggg
      841 tggactactt caaaggcaac tatgactttg tgcaggcaat gatcgttaac aatcacactt
      901 cacttgatgt ggaagaggct gctgctgtca gggcccgtct aaactggaca tccctcttgc
      961 ctgcatcctt cacaaagaac tacaagcctg ttgtacagac cacaggcaat gccaggattg
     1021 tccaggagct tcctcagttg ctggatgccc gctccgcccc actcattgca gaccaggcag
     1081 tgctgcagct cctcccaaag acctacattc tgacgtgtga gcatgatgtc ctcagagacg
     1141 atggcatcat gtatgccaag cgtttggaga gtgccggtgt ggaggtgacc ctggatcact
     1201 ttgaggatgg ctttcacgga tgtatgattt tcactagctg gcccaccaac ttctcagtgg
     1261 gaatccggac taggaatagt tacatcaagt ggctagatca aaacctgtaa aggagcaaaa
     1321 cttccagaag cctcgagccc ctcttgacct cctacacctg ctttggaaag acatgcactt
     1381 tttagttgac taattcttcc tcccattccc ctctacttgc gagttatgga atttctattc
     1441 cataactgaa gtctttatga taacctaatt tttaaaaatg aatttgacta acttaagtgc
     1501 aaaacatgta aatttggttc ccagagtggg ccaatctctc tgttcttgtt atcttagcca
     1561 actatactga tacctacagc tacagaaagc aggactagga actggaaata actttgggtc
     1621 ctgccttcat taggacgttc tttttagaag cagttcttcc agctctggat catagagtga
     1681 cctttaataa gttaaaaaaa cgaggactcc ttaattctgc tagagttaac cttgagttca
     1741 gagcagtatt aaatgcgtgc actttcaggt cagtactggg gaccaagtac cctctggtct
     1801 tttgtgaatg gatggttttg tttcctatgg gaattttggc aaaggttttc tggaaagaac
     1861 aagtttctca aaggactttc ttcctctaga atgttcattt tatgagatcg ctatctgtaa
     1921 gtccagttgg attacaggaa tacttgaaag ttactttcta ccactattag aaaatatgaa
     1981 gtcgcatgca ctggatatct atatatcatt aggtttttgt tgtgtttttg gttatgctgt
     2041 cccccttctc cttggggaga tatttgggag caaacttatt tagatttaga gtaaactttt
     2101 cattatagag caagtaaaaa cagacaaatg aaacaaccta gtgtttcaca taaaaatact
     2161 tctgacataa agtaccaaga gcagtgtgaa tatacttggc atagtcaaaa aagaaaatac
     2221 atttaatatt agttcaaaat tgttaaaaat acctttagaa ggtctagtct attattgaaa
     2281 actcaatttt ttcacttata tggctttaaa atggagctat tttgctacaa tataatgtat
     2341 tgtttatttt tttaagttat ttaatgttaa tatacatagc tagacttaag gtttttcaga
     2401 aagatgtcca taataaatat taaaaacaat ggtatttttt aaaaaactgc cttagggttt
     2461 taaaaccttc cctacagtta taaccacgtg taattttgtg gaaatgatat aacagctatt
     2521 aatactacta taacataggc ataaatattt tcgtgtttat atgcatatac aagttaaaat
     2581 aattagaaac tatgactgcg cctagtaaag tcatctaggt ttatagttca gtagcttagg
     2641 caaggcacac actgctcatc tccgcttttt agggtcagag gaacacaagc tcatgttctg
     2701 agtgaagggc gtacactggc acctggtgtt gcctagatcc cccatctcct ccttccagcc
     2761 aggtctggaa gtttcaacag cccaagctta acttcatgta aagtcttcac tgccagtggg
     2821 aacatctttg acacaacaag acactccaat tgtgatttga gttgaggatc tctgcctgcc
     2881 ttcctgccgt ccttccttct tccccgatcc atgctacttt taggggctgc ggagagcagc
     2941 agcagagctg agtaatgata cagggcacca cggagagaaa gtagaaccat ttcactcctg
     3001 ggaagatggg gtatttccca cttccagcaa cgaaataaca aatgaaaagt tgcatactta
     3061 ttgatgtatt gtatgagcca gtagcatttt atgtacaaaa cagaagtcaa tgcaacagta
     3121 tgtatgtgtg cctgtgtgtg tataaaaata accattgaag ctaacttgct aatgtactta
     3181 ggcaagccac ttcccatctc tgggcctcgt ctttcctccc tctaaaatca aagagctgaa
     3241 ttatgtgatc cttgaggtct cttccactta taataccaac tgtcttgtca gactggcaaa
     3301 ttatattggc ctctccttat gtggtggttt ttttggtagg tcatagttcc ttatacacag
     3361 acacctgcat catcgaaggt ctttttttcc taaaaaaaaa aaatgggatt ttagttctta
     3421 ttctgtgata actatcctcc tcatataata ctattctttt tgacaccatt tgaaggaacc
     3481 aatatttgga ccttattttg aggttgtctg tctcgaagaa aaagaaaata aaatgtatag
     3541 gcagggttcc ttcaattggc attttcccca gaattgtgag ccaaagccta tagtaattgc
     3601 agacagcaaa tgattccgga tctctaaaag gctctctcag atgaaaaggg agtaaaggaa
     3661 aaaagaggtc aaccactgtt tctgataatg tacttgagtt tcattgttct tttagtttgt
     3721 attcttataa aaaatgttta cactctgcag attgattttt tttttttagt actgtggctt
     3781 tcttttccta ttttatgaaa aaaatgataa tctttttgta aaattgtctg tgaaatataa
     3841 acattaatat ataaagaaaa accttgaagt gctgtatagt gaagtataaa ttaatgtttt
     3901 attgatttgt gaagaattta agactattat ataattatct tggtggatct attttatgca
     3961 tgacctttta acctttgact ttgcttattt cccactacga aggggaaggt agattttatg
     4021 aatgatttta atagcaaata tattttataa agtgaaaatc cagtgtggag gtagcaaagc
     4081 atctatctat tctgaatcat gtttggaaat aaaattgctc catctgggaa tgtgctttca
     4141 ttttcccgtc tcattttctg tttcccattt gaaaacagtg ttctcttctc ttctttctgt
     4201 atgccaaatt gccagccaca attctttccc aatcttctgc ccagtggagt actccagctg
     4261 tctttccttt agagaggtgg ttcagtggcc tccttgatga catttgtttc atgtctggat
     4321 acagtatgtg ttgccctcct ttggactggc tagaatattc ataaaagcca ggcaggccct
     4381 gggactattt tgggaccttc aatacacatg ttaggaaaag gatgatcata atgccaagag
     4441 tttgagctga attgtttcag ccaaagcatc actatcactg aaggcaggtt ctcaaactga
     4501 ccttgtcatt acaaataaat ctaatttcac acttga
//
