LOCUS       NM_022773               2606 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens lipase maturation factor 1 (LMF1), transcript variant
            1, mRNA.
ACCESSION   NM_022773
VERSION     NM_022773.4
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 2606)
  AUTHORS   Garay-Garcia,K., Gaete,P.V. and Mendivil,C.O.
  TITLE     Severe hypertriglyceridemia secondary to splice-site and missense
            variants in LMF1 in three patients from Ecuador
  JOURNAL   J Clin Lipidol 16 (3), 277-280 (2022)
   PUBMED   35246399
  REMARK    GeneRIF: Severe hypertriglyceridemia secondary to splice-site and
            missense variants in LMF1 in three patients from Ecuador.
REFERENCE   2  (bases 1 to 2606)
  AUTHORS   Roszkowska-Bjanid,D., Dyga,K., Swietochowska,E., Bjanid,O. and
            Szczepanska,M.
  TITLE     Assessment of Zinc- alpha2 glycoprotein (ZAG) and Lipase Maturation
            Factor 1 (LMF1) concentration in children with chronic kidney
            disease
  JOURNAL   Physiol Res 70 (4), 605-613 (2021)
   PUBMED   34062067
  REMARK    GeneRIF: Assessment of Zinc- alpha2 glycoprotein (ZAG) and Lipase
            Maturation Factor 1 (LMF1) concentration in children with chronic
            kidney disease.
REFERENCE   3  (bases 1 to 2606)
  AUTHORS   Chen,W.W., Yang,Q., Li,X.Y., Shi,X.L., Pu,N., Lu,G.T., Tong,Z.H.,
            Chen,J.M. and Li,W.Q.
  TITLE     Identification of a novel and heterozygous LMF1 nonsense mutation
            in an acute pancreatitis patient with severe hypertriglyceridemia,
            severe obesity and heavy smoking
  JOURNAL   Lipids Health Dis 18 (1), 68 (2019)
   PUBMED   30885219
  REMARK    GeneRIF: A heterozygous LMF1 nonsense variant was found in a
            hypertriglyceridemia-acute pancreatitis patient with severe obesity
            and heavy smoking, highlighting an important interplay between
            genetic and lifestyle factors in the etiology of
            hypertriglyceridemia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2606)
  AUTHORS   Roberts,B.S., Babilonia-Rosa,M.A., Broadwell,L.J., Wu,M.J. and
            Neher,S.B.
  TITLE     Lipase maturation factor 1 affects redox homeostasis in the
            endoplasmic reticulum
  JOURNAL   EMBO J 37 (19) (2018)
   PUBMED   30068531
  REMARK    GeneRIF: LMF1 is needed for secretion of some ER client proteins
            that require reduction of non-native disulfides during their
            folding.
REFERENCE   5  (bases 1 to 2606)
  AUTHORS   Serveaux Dancer,M., Di Filippo,M., Marmontel,O., Valero,R., Piombo
            Rivarola,M.D.C., Peretti,N., Caussy,C., Krempf,M., Verges,B.,
            Mahl,M., Marcais,C., Moulin,P. and Charriere,S.
  TITLE     New rare genetic variants of LMF1 gene identified in severe
            hypertriglyceridemia
  JOURNAL   J Clin Lipidol 12 (5), 1244-1252 (2018)
   PUBMED   30037590
  REMARK    GeneRIF: rare genetic variants of LMF1 gene identified in severe
            hypertriglyceridemia
REFERENCE   6  (bases 1 to 2606)
  AUTHORS   Cefalu,A.B., Noto,D., Arpi,M.L., Yin,F., Spina,R., Hilden,H.,
            Barbagallo,C.M., Carroccio,A., Tarugi,P., Squatrito,S., Vigneri,R.,
            Taskinen,M.R., Peterfy,M. and Averna,M.R.
  TITLE     Novel LMF1 nonsense mutation in a patient with severe
            hypertriglyceridemia
  JOURNAL   J Clin Endocrinol Metab 94 (11), 4584-4590 (2009)
   PUBMED   19820022
  REMARK    GeneRIF: Second novel pathogenic mutation in LMF1 gene in a patient
            with severe hypertriglyceridemia.
            Erratum:[J Clin Endocrinol Metab. 2010 Jan;95(1):465]
REFERENCE   7  (bases 1 to 2606)
  AUTHORS   Yin,F., Doolittle,M.H. and Peterfy,M.
  TITLE     A quantitative assay measuring the function of lipase maturation
            factor 1
  JOURNAL   J Lipid Res 50 (11), 2265-2269 (2009)
   PUBMED   19471043
  REMARK    GeneRIF: Results show that cotransfection of LPL with wild-type
            Lmf1 restores its ability to support normal lipase maturation.
REFERENCE   8  (bases 1 to 2606)
  AUTHORS   Peterfy,M., Ben-Zeev,O., Mao,H.Z., Weissglas-Volkov,D.,
            Aouizerat,B.E., Pullinger,C.R., Frost,P.H., Kane,J.P., Malloy,M.J.,
            Reue,K., Pajukanta,P. and Doolittle,M.H.
  TITLE     Mutations in LMF1 cause combined lipase deficiency and severe
            hypertriglyceridemia
  JOURNAL   Nat Genet 39 (12), 1483-1487 (2007)
   PUBMED   17994020
REFERENCE   9  (bases 1 to 2606)
  AUTHORS   Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y.,
            Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y.,
            Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N.
            and Nakagawara,A.
  TITLE     Expression profiling and differential screening between
            hepatoblastomas and the corresponding normal livers: identification
            of high expression of the PLK1 oncogene as a poor-prognostic
            indicator of hepatoblastomas
  JOURNAL   Oncogene 23 (35), 5901-5911 (2004)
   PUBMED   15221005
REFERENCE   10 (bases 1 to 2606)
  AUTHORS   Daniels,R.J., Peden,J.F., Lloyd,C., Horsley,S.W., Clark,K.,
            Tufarelli,C., Kearney,L., Buckle,V.J., Doggett,N.A., Flint,J. and
            Higgs,D.R.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009041.10, Z93041.2,
            AL008727.2, AL031716.8 and AL031008.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 16, 2019 this sequence version replaced NM_022773.3.
            
            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.
            
            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 :: AK022743.1, AK225065.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262301.16/ ENSP00000262301.12
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-197               AC009041.10        41139-41335         c
            198-507             AC009041.10        24708-25017         c
            508-518             Z93041.2           17304-17314         c
            519-667             AL008727.2         26337-26485         c
            668-733             AL008727.2         8413-8478           c
            734-901             AL031716.8         18264-18431         c
            902-1082            AL031716.8         9855-10035          c
            1083-1236           AL031716.8         9423-9576           c
            1237-1420           AL031716.8         8577-8760           c
            1421-1533           AL031716.8         7638-7750           c
            1534-2606           AL031008.1         8271-9343           c
FEATURES             Location/Qualifiers
     source          1..2606
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2606
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /note="lipase maturation factor 1"
                     /db_xref="GeneID:64788"
                     /db_xref="HGNC:HGNC:14154"
                     /db_xref="MIM:611761"
     exon            1..197
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     CDS             5..1708
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protein 112"
                     /codon_start=1
                     /product="lipase maturation factor 1 isoform 1"
                     /protein_id="NP_073610.2"
                     /db_xref="CCDS:CCDS45373.1"
                     /db_xref="GeneID:64788"
                     /db_xref="HGNC:HGNC:14154"
                     /db_xref="MIM:611761"
                     /translation="MRPDSPTMAAPAESLRRRKTGYSDPEPESPPAPGRGPAGSPAHL
                     HTGTFWLTRIVLLKALAFVYFVAFLVAFHQNKQLIGDRGLLPCRVFLKNFQQYFQDRT
                     SWEVFSYMPTILWLMDWSDMNSNLDLLALLGLGISSFVLITGCANMLLMAALWGLYMS
                     LVNVGHVWYSFGWESQLLETGFLGIFLCPLWTLSRLPQHTPTSRIVLWGFRWLIFRIM
                     LGAGLIKIRGDRCWRDLTCMDFHYETQPMPNPVAYYLHHSPWWFHRFETLSNHFIELL
                     VPFFLFLGRRACIIHGVLQILFQAVLIVSGNLSFLNWLTMVPSLACFDDATLGFLFPS
                     GPGSLKDRVLQMQRDIRGARPEPRFGSVVRRAANVSLGVLLAWLSVPVVLNLLSSRQV
                     MNTHFNSLHIVNTYGAFGSITKERAEVILQGTASSNASAPDAMWEDYEFKCKPGDPSR
                     RPCLISPYHYRLDWLMWFAAFQTYEHNDWIIHLAGKLLASDAEALSLLAHNPFAGRPP
                     PRWVRGEHYRYKFSRPGGRHAAEGKWWVRKRIGAYFPPLSLEELRPYFRDRGWPLPGP
                     L"
     exon            198..507
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     exon            508..518
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     exon            519..667
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     exon            668..733
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     exon            734..901
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     exon            902..1082
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1236
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..1420
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1533
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     exon            1534..2606
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1721..1726
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /note="hexamer: AATAAA"
     polyA_site      1758
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /note="major polyA site"
     regulatory      2578..2583
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /note="hexamer: ATTATA"
     polyA_site      2606
                     /gene="LMF1"
                     /gene_synonym="C16orf26; HMFN1876; JFP11; TMEM112;
                     TMEM112A"
                     /note="major polyA site"
ORIGIN      
        1 gcacatgcgc cctgacagcc caacaatggc ggcgcccgcg gagtcgctga ggaggcggaa
       61 gactgggtac tcggatccgg agcctgagtc gccgcccgcg ccggggcgtg gccccgcagg
      121 ctctccggcc catctccaca cgggcacctt ctggctgacc cggatcgtgc tcctgaaggc
      181 cctagccttc gtgtacttcg tggcattcct ggtggctttc catcagaaca agcagctcat
      241 cggtgacagg gggctgcttc cctgcagagt gttcctgaag aacttccagc agtacttcca
      301 ggacaggacg agctgggaag tcttcagcta catgcccacc atcctctggc tgatggactg
      361 gtcagacatg aactccaacc tggacttgct ggctcttctc ggactgggca tctcgtcttt
      421 cgtactgatc acgggctgcg ccaacatgct tctcatggct gccctgtggg gcctctacat
      481 gtccctggtt aatgtgggcc atgtctggta ctctttcgga tgggagtccc agcttctgga
      541 gacggggttc ctggggatct tcctgtgccc tctgtggacg ctgtcaaggc tgccccagca
      601 tacccccaca tcccggattg tcctgtgggg cttccggtgg ctgatcttca ggatcatgct
      661 tggagcaggc ctgatcaaga tccgggggga ccggtgctgg cgagacctca cctgcatgga
      721 cttccactat gagacccagc cgatgcccaa tcctgtggcg tactacctgc accactcacc
      781 ctggtggttc catcgcttcg agacgctcag caaccacttc atcgagctcc tggtgccctt
      841 cttcctcttc ctcggccggc gggcgtgcat catccacggg gtgctgcaga tcctgttcca
      901 ggccgtcctc atcgtcagcg ggaacctcag cttcctgaac tggctgacta tggtgcccag
      961 cctggcctgc tttgatgacg ccaccctggg attcttgttc ccctctgggc caggcagcct
     1021 gaaggaccga gttctgcaga tgcagaggga catccgaggg gcccggcccg agcccagatt
     1081 cggctccgtg gtgcggcgtg cagccaacgt ctcgctgggc gtcctgctgg cctggctcag
     1141 cgtgcccgtg gtcctcaact tgctgagctc caggcaggtc atgaacaccc acttcaactc
     1201 tcttcacatc gtcaacactt acggggcctt cggaagcatc accaaggagc gggcggaggt
     1261 gatcctgcag ggcacagcca gctccaacgc cagcgccccc gatgccatgt gggaggacta
     1321 cgagttcaag tgcaagccag gtgaccccag cagacggccc tgcctcatct ccccgtacca
     1381 ctaccgcctg gactggctga tgtggttcgc ggccttccag acctacgagc acaacgactg
     1441 gatcatccac ctggctggca agctcctggc cagcgacgcc gaggccttgt ccctgctggc
     1501 acacaacccc ttcgcgggca ggcccccgcc caggtgggtc cgaggagagc actacaggta
     1561 caagttcagc cgtcctgggg gcaggcacgc cgccgagggc aagtggtggg tgcggaagag
     1621 gatcggagcc tacttccctc cgctcagcct ggaggagctg aggccctact tcagggaccg
     1681 tgggtggcct ctgcccgggc ccctctagac gtgcaccaga aataaaggcg aagacccagc
     1741 ccctcggcgg ctcagcaacg tttgcccttc cctgcgccca gcccaagctg ggcatcgcca
     1801 agagagacgt ggagaggaga gcggtgggac ccagccccca gcacgggggt ccagggtggg
     1861 gtctgttgtc acatactgtg gcggctccca ggccctgccc acctggggcc ccacatccag
     1921 gccaaccctt gtcccaggcg ccaggggctc tgatctccca tccatcccac cctcctccca
     1981 gaggcccagc ctggggctgt gccgcccaca ggagttgaga caatggccat cctgacacct
     2041 tcctccacta cagccctgac catagaccca gccaggtagc tcttggggtc tctagcgtcc
     2101 cagggcctgg tttctgttcc ctcttcaatg gtgtgttccc agccaggtcc tgaccctcag
     2161 agccaagtcc ctgtcacgtc tggggcagcc aaaccctcgc cccacaggga cctggacacg
     2221 cccggccagg atgtggggtt ggatgggcca ttttctgtcc tatccctcat ctccaccccc
     2281 gccacagcct acacgcatcc cacacatgca ggcacacaca gcctgtgcac acatgtgttc
     2341 ttggcccggt ttcatccccc catgactggt gtctgtgagg tgcagatgga cacagcgcac
     2401 acccagaccc tccaccaggc tgtgacctcg ctgcctctga ggccttgaca aggcccctca
     2461 atcggaggac agccggccgt gcacactttc atcatcgtcg gacaaacagc gtctactgca
     2521 catttttctt attcctattc ttgagccata gctatggcat attcttctac tattcctatt
     2581 ataccactta ccagcttact cgaaaa
//
