LOCUS       NM_005780               2132 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens LHFPL tetraspan subfamily member 6 (LHFPL6), mRNA.
ACCESSION   NM_005780
VERSION     NM_005780.3
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 2132)
  AUTHORS   Zhao,L., Bracken,M.B. and DeWan,A.T.
  TITLE     Genome-wide association study of pre-eclampsia detects novel
            maternal single nucleotide polymorphisms and copy-number variants
            in subsets of the Hyperglycemia and Adverse Pregnancy Outcome
            (HAPO) study cohort
  JOURNAL   Ann Hum Genet 77 (4), 277-287 (2013)
   PUBMED   23551011
REFERENCE   2  (bases 1 to 2132)
  AUTHORS   Melville,S.A., Buros,J., Parrado,A.R., Vardarajan,B., Logue,M.W.,
            Shen,L., Risacher,S.L., Kim,S., Jun,G., DeCarli,C., Lunetta,K.L.,
            Baldwin,C.T., Saykin,A.J. and Farrer,L.A.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Multiple loci influencing hippocampal degeneration identified by
            genome scan
  JOURNAL   Ann Neurol 72 (1), 65-75 (2012)
   PUBMED   22745009
REFERENCE   3  (bases 1 to 2132)
  AUTHORS   Nagaishi,M., Kim,Y.H., Mittelbronn,M., Giangaspero,F., Paulus,W.,
            Brokinkel,B., Vital,A., Tanaka,Y., Nakazato,Y., Legras-Lachuer,C.,
            Lachuer,J. and Ohgaki,H.
  TITLE     Amplification of the STOML3, FREM2, and LHFP genes is associated
            with mesenchymal differentiation in gliosarcoma
  JOURNAL   Am J Pathol 180 (5), 1816-1823 (2012)
   PUBMED   22538188
  REMARK    GeneRIF: Amplification of the LHFP gene is associated with
            mesenchymal differentiation in gliosarcoma.
REFERENCE   4  (bases 1 to 2132)
  AUTHORS   Longo-Guess,C.M., Gagnon,L.H., Cook,S.A., Wu,J., Zheng,Q.Y. and
            Johnson,K.R.
  TITLE     A missense mutation in the previously undescribed gene Tmhs
            underlies deafness in hurry-scurry (hscy) mice
  JOURNAL   Proc Natl Acad Sci U S A 102 (22), 7894-7899 (2005)
   PUBMED   15905332
  REMARK    GeneRIF: The authors present an overview of the LHFP gene family in
            mouse and humans
REFERENCE   5  (bases 1 to 2132)
  AUTHORS   Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
            Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
            Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
            Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
            Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
            Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
            Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
            Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
            Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
            French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
            Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
            Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
            Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
            Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
            Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
            McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
            Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
            Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
            Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
            Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
            Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   6  (bases 1 to 2132)
  AUTHORS   Petit,M.M., Schoenmakers,E.F., Huysmans,C., Geurts,J.M., Mandahl,N.
            and Van de Ven,W.J.
  TITLE     LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a
            member of a new family of LHFP-like genes
  JOURNAL   Genomics 57 (3), 438-441 (1999)
   PUBMED   10329012
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136358.13, AL158194.16 and
            AL138685.21.
            
            On Nov 24, 2018 this sequence version replaced NM_005780.2.
            
            Summary: This gene is a member of the lipoma HMGIC fusion partner
            (LHFP) gene family, which is a subset of the superfamily of
            tetraspan transmembrane protein encoding genes. This gene is fused
            to a high-mobility group gene in a translocation-associated lipoma.
            Mutations in another LHFP-like gene result in deafness in humans
            and mice. Alternatively spliced transcript variants have been
            found; however, their full-length nature is not known. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.733121.1,
                                           SRR3476690.822155.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379589.4/ ENSP00000368908.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-311               AL136358.13        71399-71709         c
            312-870             AL136358.13        69348-69906         c
            871-969             AL158194.16        23863-23961         c
            970-2132            AL138685.21        71013-72175         c
FEATURES             Location/Qualifiers
     source          1..2132
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3-q14.11"
     gene            1..2132
                     /gene="LHFPL6"
                     /gene_synonym="LHFP"
                     /note="LHFPL tetraspan subfamily member 6"
                     /db_xref="GeneID:10186"
                     /db_xref="HGNC:HGNC:6586"
                     /db_xref="MIM:606710"
     exon            1..311
                     /gene="LHFPL6"
                     /gene_synonym="LHFP"
                     /inference="alignment:Splign:2.1.0"
     exon            312..870
                     /gene="LHFPL6"
                     /gene_synonym="LHFP"
                     /inference="alignment:Splign:2.1.0"
     CDS             486..1088
                     /gene="LHFPL6"
                     /gene_synonym="LHFP"
                     /EC_number="3.6.5.4"
                     /note="lipoma HMGIC fusion partner"
                     /codon_start=1
                     /product="LHFPL tetraspan subfamily member 6 protein"
                     /protein_id="NP_005771.1"
                     /db_xref="CCDS:CCDS9369.1"
                     /db_xref="GeneID:10186"
                     /db_xref="HGNC:HGNC:6586"
                     /db_xref="MIM:606710"
                     /translation="MASSLTCTGVIWALLSFLCAATSCVGFFMPYWLWGSQLGKPVSF
                     GTFRRCSYPVHDESRQMMVMVEECGRYASFQGIPSAEWRICTIVTGLGCGLLLLVALT
                     ALMGCCVSDLISRTVGRVAGGIQFLGGLLIGAGCALYPLGWDSEEVRQTCGYTSGQFD
                     LGKCEIGWAYYCTGAGATAAMLLCTWLACFSGKKQKHYPY"
     exon            871..969
                     /gene="LHFPL6"
                     /gene_synonym="LHFP"
                     /inference="alignment:Splign:2.1.0"
     exon            970..2132
                     /gene="LHFPL6"
                     /gene_synonym="LHFP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2109..2114
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHFPL6"
                     /gene_synonym="LHFP"
                     /note="hexamer: AATAAA"
     polyA_site      2132
                     /gene="LHFPL6"
                     /gene_synonym="LHFP"
                     /note="major polyA site"
ORIGIN      
        1 aaagggagat ccgctcctct gcgtgcgatc cccggcgccc gcgcgcgccc acagcgctcc
       61 gccagagctg ccgccgcgga ctcgccggga gtgggggtct ccgctggtgc cagcccgctt
      121 ctggagaccc tccgcctcct gccaacccct gctcttccag gtcgggcccc ggggttctgc
      181 ggctgttagg gacagaggca aagaagggca ggacggtccg gtttcccgtg gatgttcccg
      241 cccgagaaag acagcaagtt gtgtgtgcgc ccgggacgcg ggagggaagg tggccgccgc
      301 ccgccagcca tggaccatca tctttagtgc agaggatgga aagttgatgc ccagtaagac
      361 tgaagatcca ttctgcatta cggaactgtg gattatctgt gggtccctgg tgatttcaca
      421 ccttcattca ctcctgcagt ccctgaacac ttacttgggg tcctcattgc cctatctggt
      481 gaaagatggc atccagcctg acttgtactg gagtaatctg ggctttgctg tcttttcttt
      541 gtgctgccac ctcctgcgtg gggttcttta tgccttactg gctctgggga tcacagctgg
      601 gcaagcctgt gtccttcggt accttccgga ggtgctcata tcctgtgcat gatgagagtc
      661 ggcagatgat ggtgatggtg gaggaatgtg ggcgctatgc ctccttccag ggcatcccca
      721 gcgcagaatg gaggatctgc accatagtga ccggcctggg ttgtggcctc ctcctcctgg
      781 tggcgctcac tgccctcatg ggttgctgtg tttccgacct catctccagg acagtgggaa
      841 gagtggctgg aggaattcag tttcttgggg gcttgttgat tggtgctggc tgtgccctct
      901 accccttggg ctgggacagt gaggaagtcc ggcagacttg tggctacact tctggccagt
      961 ttgacctggg gaagtgtgaa atcggctggg cctactactg cacgggagca ggtgccactg
     1021 ccgccatgct gctgtgcacg tggctggctt gcttttcggg caagaaacag aagcactacc
     1081 catactgaga tggagctacc aagagcagac agaggagaag atgggccaaa ggggcttgga
     1141 gaggtcaaaa catccaccta ccttcaaaag gtgggatagt agttctaatc caatacaatg
     1201 ctaataaaat gaaacccgat aaaatcagga acatgatata ggaaggaagg attgtaggag
     1261 atttgtgggg gaaaaaaaag gagagtatag aatgatggag aaaaatggac caaaggctaa
     1321 aaatattgca gggcatcggg tgtttctatt ccacagagta ttgttaatgt acaacacaca
     1381 cacacacaca cacacacaca cacacacaca cacacacaca acaaatctac atatacaaac
     1441 aagggtttgg gttttagttt ttttttttta aggtgaggac tcagaaaatc aaagggctag
     1501 tagaaacagt gttatgttgg gaagcagggt acccccaaag atgttccctg taggtcacgg
     1561 cactcccaaa agcacacaag cacatacaga catatgcatc cccacacacg cctatgcaca
     1621 aacgtggatt atcgcacaga ctgggaggtt tagtggtgca tttctcctct gttttctttt
     1681 taatatacat ttaaaataca gtattatcac tttataaaac atacattaag cctaataaat
     1741 ggaccaataa gccaaactat cagtattttg tatatcctgc ataaactcta atttagttcc
     1801 tcaacatatt ttcagtgttt atgcagacct ttagagttaa gcctttgtat ttccatgtta
     1861 ttccacaata tgcaatattt ctctgagtag cttctgctat gatattctta tgaagaaaag
     1921 gggcaacttt ctgtccacta taggagagaa ttcagccgaa gatatgagag taatgagaga
     1981 cattttccag tcattggatc gtgttttctt ttgtccatta ttgtactgtg ctgtaccaca
     2041 tttatttcta tattcatttt gtaaaaaatt taaaagtgct attttgtttg tatttgaaaa
     2101 tctctgtgaa taaattctct ctttgatcaa ta
//
