LOCUS       NM_024101               3744 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.
ACCESSION   NM_024101
VERSION     NM_024101.7
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 3744)
  AUTHORS   Kim,M.Y., Kim,Y.H., Park,E.R., Shin,Y., Kim,G.H., Jeong,J.H.,
            Gu,M.B., Lee,K.H. and Shin,H.J.
  TITLE     MLPH is a novel adipogenic factor controlling redox homeostasis to
            inhibit lipid peroxidation in adipocytes
  JOURNAL   Biochem Biophys Res Commun 734, 150459 (2024)
   PUBMED   39083977
  REMARK    GeneRIF: MLPH is a novel adipogenic factor controlling redox
            homeostasis to inhibit lipid peroxidation in adipocytes.
REFERENCE   2  (bases 1 to 3744)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3744)
  AUTHORS   Guo,D., Jain,R., Hwang,J.S., Weninger,W., Beaumont,K.A. and
            Tikoo,S.
  TITLE     RAB27A/Melanophilin Blocker Inhibits Melanoma Cell Motility and
            Invasion
  JOURNAL   J Invest Dermatol 140 (7), 1470-1473 (2020)
   PUBMED   31978414
  REMARK    GeneRIF: RAB27A/Melanophilin Blocker Inhibits Melanoma Cell
            Motility and Invasion.
REFERENCE   4  (bases 1 to 3744)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3744)
  AUTHORS   Xiao,F., Zhang,P., Wang,Y., Tian,Y., James,M., Huang,C.C., Wang,L.
            and Wang,L.
  TITLE     Single-nucleotide polymorphism rs13426236 contributes to an
            increased prostate cancer risk via regulating MLPH splicing variant
            4
  JOURNAL   Mol Carcinog 59 (1), 45-55 (2020)
   PUBMED   31659808
  REMARK    GeneRIF: This study provides strong evidence showing that prostate
            cancer risk Single-nucleotide polymorphism rs13426236 upregulates
            expression of MLPH transcript V4, which may function as a candidate
            oncogene in prostate cancer.
REFERENCE   6  (bases 1 to 3744)
  AUTHORS   Fukuda,M.
  TITLE     Synaptotagmin-like protein (Slp) homology domain 1 of
            Slac2-a/melanophilin is a critical determinant of GTP-dependent
            specific binding to Rab27A
  JOURNAL   J Biol Chem 277 (42), 40118-40124 (2002)
   PUBMED   12189142
  REMARK    GeneRIF: SHD1 of Slac2-a/melanophilin alone is both necessary and
            sufficient for high affinity specific recognition of the GTP-bound
            form of Rab27A
REFERENCE   7  (bases 1 to 3744)
  AUTHORS   Strom,M., Hume,A.N., Tarafder,A.K., Barkagianni,E. and Seabra,M.C.
  TITLE     A family of Rab27-binding proteins. Melanophilin links Rab27a and
            myosin Va function in melanosome transport
  JOURNAL   J Biol Chem 277 (28), 25423-25430 (2002)
   PUBMED   11980908
  REMARK    GeneRIF: links rab27a and myosin Va function in melanosome
            transport
REFERENCE   8  (bases 1 to 3744)
  AUTHORS   Nagashima,K., Torii,S., Yi,Z., Igarashi,M., Okamoto,K., Takeuchi,T.
            and Izumi,T.
  TITLE     Melanophilin directly links Rab27a and myosin Va through its
            distinct coiled-coil regions
  JOURNAL   FEBS Lett 517 (1-3), 233-238 (2002)
   PUBMED   12062444
  REMARK    GeneRIF: Melanophilin has a role in bridging Rab27a on melanosomes
            and myosin Va on actin filaments during melanosome transport.
REFERENCE   9  (bases 1 to 3744)
  AUTHORS   Fukuda,M., Kuroda,T.S. and Mikoshiba,K.
  TITLE     Slac2-a/melanophilin, the missing link between Rab27 and myosin Va:
            implications of a tripartite protein complex for melanosome
            transport
  JOURNAL   J Biol Chem 277 (14), 12432-12436 (2002)
   PUBMED   11856727
  REMARK    GeneRIF: Slac2-a/melanophilin, the missing link between Rab27 and
            myosin Va: implications of a tripartite protein complex for
            melanosome transport
            GeneRIF: Slac2-a/melanophilin contains an N-terminal Slp homology
            domain (SHD) (PMID: 11327731). The SHD of Slac2-a specifically and
            directly binds the GTP-bound form of Rab27A and Rab27B (PMID:
            11773082). The C-terminus of Slac2-a directly binds myosin Va.
REFERENCE   10 (bases 1 to 3744)
  AUTHORS   Matesic,L.E., Yip,R., Reuss,A.E., Swing,D.A., O'Sullivan,T.N.,
            Fletcher,C.F., Copeland,N.G. and Jenkins,N.A.
  TITLE     Mutations in Mlph, encoding a member of the Rab effector family,
            cause the melanosome transport defects observed in leaden mice
  JOURNAL   Proc Natl Acad Sci U S A 98 (18), 10238-10243 (2001)
   PUBMED   11504925
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC300186.1, BC001653.2,
            BC014948.1, BM992819.1 and AC104667.5.
            
            On Nov 22, 2018 this sequence version replaced NM_024101.6.
            
            Summary: This gene encodes a member of the exophilin subfamily of
            Rab effector proteins. The protein forms a ternary complex with the
            small Ras-related GTPase Rab27A in its GTP-bound form and the motor
            protein myosin Va. A similar protein complex in mouse functions to
            tether pigment-producing organelles called melanosomes to the actin
            cytoskeleton in melanocytes, and is required for visible
            pigmentation in the hair and skin. A mutation in this gene results
            in Griscelli syndrome type 3, which is characterized by a
            silver-gray hair color and abnormal pigment distribution in the
            hair shaft. Several alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR1803617.249150.1, BC001653.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264605.8/ ENSP00000264605.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                DC300186.1         33-68
            37-2416             BC001653.2         1-2380
            2417-3532           BC014948.1         2681-3796
            3533-3740           BM992819.1         16-223              c
            3741-3744           AC104667.5         27636-27639
FEATURES             Location/Qualifiers
     source          1..3744
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..3744
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /note="melanophilin"
                     /db_xref="GeneID:79083"
                     /db_xref="HGNC:HGNC:29643"
                     /db_xref="MIM:606526"
     exon            1..187
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            188..321
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     CDS             212..2014
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     exophilin-3; synaptotagmin-like protein 2a; slp homolog
                     lacking C2 domains a; synaptotagmin-like protein homologue
                     lacking C2 domains-a"
                     /codon_start=1
                     /product="melanophilin isoform 1"
                     /protein_id="NP_077006.1"
                     /db_xref="CCDS:CCDS2518.1"
                     /db_xref="GeneID:79083"
                     /db_xref="HGNC:HGNC:29643"
                     /db_xref="MIM:606526"
                     /translation="MGKKLDLSKLTDEEAQHVLEVVQRDFDLRRKEEERLEALKGKIK
                     KESSKRELLSDTAHLNETHCARCLQPYQLLVNSKRQCLECGLFTCKSCGRVHPEEQGW
                     ICDPCHLARVVKIGSLEWYYEHVKARFKRFGSAKVIRSLHGRLQGGAGPELISEERSG
                     DSDQTDEDGEPGSEAQAQAQPFGSKKKRLLSVHDFDFEGDSDDSTQPQGHSLHLSSVP
                     EARDSPQSLTDESCSEKAAPHKAEGLEEADTGASGCHSHPEEQPTSISPSRHGALAEL
                     CPPGGSHRMALGTAAALGSNVIRNEQLPLQYLADVDTSDEESIRAHVMASHHSKRRGR
                     ASSESQIFELNKHISAVECLLTYLENTVVPPLAKGLGAGVRTEADVEEEALRRKLEEL
                     TSNVSDQETSSEEEEAKDEKAEPNRDKSVGPLPQADPEVGTAAHQTNRQEKSPQDPGD
                     PVQYNRTTDEELSELEDRVAVTASEVQQAESEVSDIESRIAALRAAGLTVKPSGKPRR
                     KSNLPIFLPRVAGKLGKRPEDPNADPSSEAKAMAVPYLLRRKFSNSLKSQGKDDDSFD
                     RKSVYRGSLTQRNPNARKGMASHTFAKPVVAHQS"
     exon            322..543
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            544..656
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            657..766
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            767..886
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            887..1091
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1231
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1315
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1501
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1502..1657
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1658..1750
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1751..1828
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1829..1886
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1887..1987
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     exon            1988..3744
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2418
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /note="major polyA site"
     polyA_site      2518
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
     regulatory      3713..3718
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /note="hexamer: AATAAA"
     regulatory      3721..3726
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
                     /note="hexamer: AATGAA"
     polyA_site      3731
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
     polyA_site      3744
                     /gene="MLPH"
                     /gene_synonym="SLAC2-A"
ORIGIN      
        1 agttgcccgc ctgccccgga gagccaggcg ctaaccagcc gctctgcgcc ccgcgccctg
       61 cttgccccca ttatccagcc ttgccccggc gccctgacct gacgccctgg cctgacgccc
      121 tgcttcgtcg cctcctttct ctcccaggtg ctggaccagg gactgagcgt cccccggaga
      181 gggtccggtg tgaccccgac aagaagcaga aatggggaag aaactggatc tttccaagct
      241 cactgatgaa gaggcccagc atgtcttgga agttgttcaa cgagattttg acctccgaag
      301 gaaagaagag gaacggctag aggcgttgaa gggcaagatt aagaaggaaa gctccaagag
      361 ggagctgctt tccgacactg cccatctgaa cgagacccac tgcgcccgct gcctgcagcc
      421 ctaccagctg cttgtgaata gcaaaaggca gtgcctggaa tgtggcctct tcacctgcaa
      481 aagctgtggc cgcgtccacc cggaggagca gggctggatc tgtgacccct gccatctggc
      541 cagagtcgtg aagatcggct cactggagtg gtactatgag catgtgaaag cccgcttcaa
      601 gaggttcgga agtgccaagg tcatccggtc cctccacggg cggctgcagg gtggagctgg
      661 gcctgaactg atatctgaag agagaagtgg agacagcgac cagacagatg aggatggaga
      721 acctggctca gaggcccagg cccaggccca gccctttggc agcaaaaaaa agcgcctcct
      781 ctccgtccac gacttcgact tcgagggaga ctcagatgac tccactcagc ctcaaggtca
      841 ctccctgcac ctgtcctcag tccctgaggc cagggacagc ccacagtccc tcacagatga
      901 gtcctgctca gagaaggcag cccctcacaa ggctgagggc ctggaggagg ctgatactgg
      961 ggcctctggg tgccactccc atccggaaga gcagccgacc agcatctcac cttccagaca
     1021 cggcgccctg gctgagctct gcccgcctgg aggctcccac aggatggccc tggggactgc
     1081 tgctgcactc gggtcgaatg tcatcaggaa tgagcagctg cccctgcagt acttggccga
     1141 tgtggacacc tctgatgagg aaagcatccg ggctcacgtg atggcctccc accattccaa
     1201 gcggagaggc cgggcgtctt ctgagagtca gatctttgag ctgaataagc atatttcagc
     1261 tgtggaatgc ctgctgacct acctggagaa cacagttgtg cctcccttgg ccaagggtct
     1321 aggtgctgga gtgcgcacgg aggccgatgt agaggaggag gccctgagga ggaagctgga
     1381 ggagctgacc agcaacgtca gtgaccagga gacctcgtcc gaggaggagg aagccaagga
     1441 cgaaaaggca gagcccaaca gggacaaatc agttgggcct ctcccccagg cggacccgga
     1501 ggtgggcacg gctgcccatc aaaccaacag acaggaaaaa agcccccagg accctgggga
     1561 ccccgtccag tacaacagga ccacagatga ggagctgtca gagctggagg acagagtggc
     1621 agtgacggcc tcagaagtcc agcaggcaga gagcgaggtt tcagacattg aatccaggat
     1681 tgcagccctg agggccgcag ggctcacggt gaagccctcg ggaaagcccc ggaggaagtc
     1741 aaacctcccg atatttctcc ctcgagtggc tgggaaactt ggcaagagac cagaggaccc
     1801 aaatgcagac ccttcaagtg aggccaaggc aatggctgtg ccctatcttc tgagaagaaa
     1861 gttcagtaat tccctgaaaa gtcaaggtaa agatgatgat tcttttgatc ggaaatcagt
     1921 gtaccgaggc tcgctgacac agagaaaccc caacgcgagg aaaggaatgg ccagccacac
     1981 cttcgcgaaa cctgtggtgg cccaccagtc ctaacgggac aggacagaga gacagagcag
     2041 ccctgcactg ttttccctcc accacagcca tcctgtccct cattggctct gtgctttcca
     2101 ctatacacag tcaccgtccc aatgagaaac aagaaggagc accctccaca tggactccca
     2161 cctgcaagtg gacagcgaca ttcagtcctg cactgctcac ctgggtttac tgatgactcc
     2221 tggctgcccc accatcctct ctgatctgtg agaaacagct aagctgctgt gacttccctt
     2281 taggacaatg ttgtgtaaat ctttgaagga cacaccgaag acctttatac tgtgatcttt
     2341 tacccctttc actcttggct ttcttatgtt gctttcatga atggaatgga aaaaagatga
     2401 ctcagttaag gcaccagcca tatgtgtatt cttgatggtc tatatcgggg tgtgagcaga
     2461 tgtttgcgta tttcttgtgg gtgtgactgg atattagaca tccggacaag tgactgaact
     2521 aatgatctgc tgaataatga aggaggaata gacaccccag tccccaccct acgtgcaccc
     2581 gctctgcaag ttcccatgtg atctgtagac caggggaaat tacactgcgg tcaagggcag
     2641 agcctgcaca tgacagcaag tgagcatttg atagatgctc agatgctagt gcagagagcc
     2701 tgctgggaga cgaagagaca gcaggcagag ctccagatgg gcaaggaaga ggcttggttc
     2761 tagcctggct ctgcccctca ctgcagtgga tccagtgggg cagaggacag agggtcacaa
     2821 ccaatgaggg atgtctgcca aggatggggg tgcagaggcc acaggagtca gcttgccact
     2881 cgcccattgg ttacatagat gatctctcag acaggctggg actcagagtt atttcctagt
     2941 atcggtgtgc cccatccagt tttaagtgga gccctccaag actctccaga gctgcctttg
     3001 aacatcctaa cagtaatcac atctcaccct ccctgaggtt cactttagac aggacccaat
     3061 ggctgcactg cctttgtcag agggggtgct gagaggagtg gcttctttta gaatcaaaca
     3121 gtagagacaa gagtcaagcc ttgtgtcttc aagcattgac caagttaagt gtttccttcc
     3181 ctctctcaat aagacacttc caggagcttt ccaatctctc acttaaaact aaggtttgaa
     3241 tctcaaagtg ttgctgggag gctgatactc ctgcaacttc aggagacctg tgagcacaca
     3301 ttagcagctg tttctctgac tccttgtggc atcagataaa aacgtgggag tttttccata
     3361 taattcccag ccttacttat aaattctatt ctttgaaaaa attattcagg ctaggtaagg
     3421 tggctcatac ctataatccc agccctttga gaggccaagg tgggagaatt gcttgaggcc
     3481 aggagtttga gacctcctgg gcaacatagt gagatcccat ctctacaaaa aacaaaacaa
     3541 aaaaattacc caagcatgat ggtatatgcc tgtagtcgta cctacttact taggaggctg
     3601 aggcaggagg atcacttgag ccctggaggt tggggctgca gtgagccatg atcgcatcac
     3661 tatactcgag cctgggcaac agagtgagac cttgtctctt aaaaaaatta ataataaata
     3721 aatgaaaata attcttcaga gttc
//
