LOCUS       NM_001102469            2676 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens lipase family member N (LIPN), mRNA.
ACCESSION   NM_001102469 XM_926751 XM_937212
VERSION     NM_001102469.2
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 2676)
  AUTHORS   Israeli,S., Khamaysi,Z., Fuchs-Telem,D., Nousbeck,J., Bergman,R.,
            Sarig,O. and Sprecher,E.
  TITLE     A mutation in LIPN, encoding epidermal lipase N, causes a
            late-onset form of autosomal-recessive congenital ichthyosis
  JOURNAL   Am J Hum Genet 88 (4), 482-487 (2011)
   PUBMED   21439540
  REMARK    GeneRIF: describe a late-onset form of recessive ichthyosis in a
            large consanguineous pedigree with a 2 bp deletion in LIPN that
            segregated with the disease phenotype throughout the family
REFERENCE   2  (bases 1 to 2676)
  AUTHORS   Toulza,E., Mattiuzzo,N.R., Galliano,M.F., Jonca,N., Dossat,C.,
            Jacob,D., de Daruvar,A., Wincker,P., Serre,G. and Guerrin,M.
  TITLE     Large-scale identification of human genes implicated in epidermal
            barrier function
  JOURNAL   Genome Biol 8 (6), R107 (2007)
   PUBMED   17562024
REFERENCE   3  (bases 1 to 2676)
  AUTHORS   Richard,G.
  TITLE     Autosomal Recessive Congenital Ichthyosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301593
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358532.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 11, 2020 this sequence version replaced NM_001102469.1.
            
            Summary: The gene encodes a lipase that is highly expressed in
            granular keratinocytes in the epidermis, and plays a role in the
            differentiation of keratinocytes. Mutations in this gene are
            associated with lamellar ichthyosis type 4. [provided by RefSeq,
            Dec 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            CDS exon combination :: EF426483.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2142670, SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000404459.2/ ENSP00000383923.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                AL358532.11        114636-114722
            88-203              AL358532.11        116014-116129
            204-321             AL358532.11        116804-116921
            322-520             AL358532.11        119026-119224
            521-630             AL358532.11        120885-120994
            631-767             AL358532.11        123408-123544
            768-914             AL358532.11        125461-125607
            915-986             AL358532.11        129089-129160
            987-1058            AL358532.11        129708-129779
            1059-2676           AL358532.11        132625-134242
FEATURES             Location/Qualifiers
     source          1..2676
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     gene            1..2676
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /note="lipase family member N"
                     /db_xref="GeneID:643418"
                     /db_xref="HGNC:HGNC:23452"
                     /db_xref="MIM:613924"
     exon            1..87
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /inference="alignment:Splign:2.1.0"
     exon            88..203
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1292
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /EC_number="3.1.1.13"
                     /EC_number="3.1.1.3"
                     /note="lipase-like abhydrolase domain-containing protein
                     4"
                     /codon_start=1
                     /product="lipase member N precursor"
                     /protein_id="NP_001095939.1"
                     /db_xref="CCDS:CCDS44456.1"
                     /db_xref="GeneID:643418"
                     /db_xref="HGNC:HGNC:23452"
                     /db_xref="MIM:613924"
                     /translation="MMWLLLTTTCLICGTLNAGGFLDLENEVNPEVWMNTSEIIIYNG
                     YPSEEYEVTTEDGYILLVNRIPYGRTHARSTGPRPVVYMQHALFADNAYWLENYANGS
                     LGFLLADAGYDVWMGNSRGNTWSRRHKTLSETDEKFWAFSFDEMAKYDLPGVIDFIVN
                     KTGQEKLYFIGHSLGTTIGFVAFSTMPELAQRIKMNFALGPTISFKYPTGIFTRFFLL
                     PNSIIKAVFGTKGFFLEDKKTKIASTKICNNKILWLICSEFMSLWAGSNKKNMNQSRM
                     DVYMSHAPTGSSVHNILHIKQLYHSDEFRAYDWGNDADNMKHYNQSHPPIYDLTAMKV
                     PTAIWAGGHDVLVTPQDVARILPQIKSLHYFKLLPDWNHFDFVWGLDAPQRMYSEIIA
                     LMKAYS"
     exon            204..321
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /inference="alignment:Splign:2.1.0"
     exon            322..520
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /inference="alignment:Splign:2.1.0"
     exon            521..630
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /inference="alignment:Splign:2.1.0"
     exon            631..767
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /inference="alignment:Splign:2.1.0"
     exon            768..914
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /inference="alignment:Splign:2.1.0"
     exon            915..986
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1058
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..2676
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2573..2578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /note="hexamer: AATATA"
     polyA_site      2595
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /note="major polyA site"
     regulatory      2649..2654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /note="hexamer: AATAAA"
     polyA_site      2676
                     /gene="LIPN"
                     /gene_synonym="ARCI8; bA186O14.3; LI4; LIPL4"
                     /note="major polyA site"
ORIGIN      
        1 actcttcagc ctgatgtcaa aagcaaaagt tcagaagttc ctcatcaata aggagtcctt
       61 gtgagcaggt gaagctcatc taactaggca tttctatgat gtggctgctt ttaacaacaa
      121 cttgtttgat ctgtggaact ttaaatgctg gtggattcct tgatttggaa aatgaagtga
      181 atcctgaggt gtggatgaat actagtgaaa tcatcatcta caatggctac cccagtgaag
      241 agtatgaagt caccactgaa gatgggtata tactccttgt caacagaatt ccttatgggc
      301 gaacacatgc taggagcaca ggtccccggc cagttgtgta tatgcagcat gccctgtttg
      361 cagacaatgc ctactggctt gagaattatg ctaatggaag ccttggattc cttctagcag
      421 atgcaggtta tgatgtatgg atgggaaaca gtcggggaaa cacttggtca agaagacaca
      481 aaacactctc agagacagat gagaaattct gggcctttag ttttgatgaa atggccaaat
      541 atgatctccc aggagtaata gacttcattg taaataaaac tggtcaggag aaattgtatt
      601 tcattggaca ttcacttggc actacaatag ggtttgtagc cttttccacc atgcctgaac
      661 tggcacaaag aatcaaaatg aattttgcct tgggtcctac gatctcattc aaatatccca
      721 cgggcatttt taccaggttt tttctacttc caaattccat aatcaaggct gtttttggta
      781 ccaaaggttt ctttttagaa gataagaaaa cgaagatagc ttctaccaaa atctgcaaca
      841 ataagatact ctggttgata tgtagcgaat ttatgtcctt atgggctgga tccaacaaga
      901 aaaatatgaa tcagagtcga atggatgtgt atatgtcaca tgctcccact ggttcatcag
      961 tacacaacat tctgcatata aaacagcttt accactctga tgaattcaga gcttatgact
     1021 ggggaaatga cgctgataat atgaaacatt acaatcagag tcatccccct atatatgacc
     1081 tgactgccat gaaagtgcct actgctattt gggctggtgg acatgatgtc ctcgtaacac
     1141 cccaggatgt ggccaggata ctccctcaaa tcaagagtct tcattacttt aagctattgc
     1201 cagattggaa ccactttgat tttgtctggg gcctcgatgc ccctcaacgg atgtacagtg
     1261 aaatcatagc tttaatgaag gcatattcct aaatgcaatg catttacttt tcaattaaaa
     1321 gttgcttcca agcccataag ggactttaga aaaaatagta accaacaatg aggttgtccc
     1381 ccagcaccct gggggagatg cacagtggag tctgttttcc aagtcaattg tgttagtgtt
     1441 atttatgttt agagacatct ttgcatggga ccatctacag gtccttataa acaatgaggt
     1501 agattaggca aaaagataaa caagttgcta ctctatctgg catttaagtc taattaaatt
     1561 gtaattttta gggcatacca tgaagtatag aaatgtctga agcttcaaag gaacagtgaa
     1621 attcctttaa ggtcctatat ggaaacctct gttgtcattt tatttatatg gattgctatg
     1681 gcaatggaca gagtgtggga ttaggaggag ggcctgtaac ttctttataa aagtttctta
     1741 gctatcctga agatgtatag acatttttac ttttttaggt attttcaaca tcagaaattc
     1801 aaaaaagtcc ccaaagattc ttccagagaa gccctctttt cttacaatct tatccctggc
     1861 tatctgcgta aacggaatct tgaacccata ataggataca tgtataaaat cttccttatt
     1921 aaagcagaaa taaattgtac agcatcaata tcattttata atcataggga ggcttctttg
     1981 tttagcatgt aatgccccct ttacaggctt tttgttcttt gaggggtttg aacattccat
     2041 gaaaaactga cagataggaa actgacaata aaagattgag ctaaagatgg aagcagaaag
     2101 tactaggcta gatagtctct aaacattaag tattttcttc ctccatctta aaagcaatga
     2161 gaagccacca aaatatttta cctaatggaa acctgattgc cgcatttttg taaccaccac
     2221 tttggctgct acatagagaa tggattagaa gatgccaaca aaagattctg agcaagactg
     2281 taaatctgat caagtgttct gatgcaggct gatatccttc tgtgctaaga gagatgatcc
     2341 ttggaaaatc cagagccagc tccataatac tttcctgctc tgctggcaaa tccacaagct
     2401 gctggcccct ggagccattc ttctctcaaa actagcattc atcaatttaa tgtatacgta
     2461 ttgatgggga ataatggtca ctatgaaaac catgtgataa tatggaaaaa tacccatgat
     2521 ataatgttat gtgaagagga gaaaatgaaa ctggtagaac tatgtgattg caaatatata
     2581 caaatattaa aacaattata tgactttata aaatatttgt atataatgaa aactgaagca
     2641 atataaaaaa taaaattagt tgtgtcaggg tagtaa
//
