LOCUS       NM_033066               2408 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens MAGUK p55 scaffold protein 4 (MPP4), mRNA.
ACCESSION   NM_033066
VERSION     NM_033066.3
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 2408)
  AUTHORS   Jeremian,R., Chen,Y.A., De Luca,V., Vincent,J.B., Kennedy,J.L.,
            Zai,C.C. and Strauss,J.
  TITLE     Investigation of correlations between DNA methylation, suicidal
            behavior and aging
  JOURNAL   Bipolar Disord 19 (1), 32-40 (2017)
   PUBMED   28276657
  REMARK    GeneRIF: Bipolar disorder participants with a history of Suicidal
            behavior showed less overall methylation in the 5' untranslated
            region of Membrane palmitoylated protein 4 .
REFERENCE   2  (bases 1 to 2408)
  AUTHORS   Voss,M., Lettau,M. and Janssen,O.
  TITLE     Identification of SH3 domain interaction partners of human FasL
            (CD178) by phage display screening
  JOURNAL   BMC Immunol 10, 53 (2009)
   PUBMED   19807924
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2408)
  AUTHORS   Roni,V., Carpio,R. and Wissinger,B.
  TITLE     Mapping of transcription start sites of human retina expressed
            genes
  JOURNAL   BMC Genomics 8, 42 (2007)
   PUBMED   17286855
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2408)
  AUTHORS   Kantardzhieva,A., Gosens,I., Alexeeva,S., Punte,I.M., Versteeg,I.,
            Krieger,E., Neefjes-Mol,C.A., den Hollander,A.I., Letteboer,S.J.,
            Klooster,J., Cremers,F.P., Roepman,R. and Wijnholds,J.
  TITLE     MPP5 recruits MPP4 to the CRB1 complex in photoreceptors
  JOURNAL   Invest Ophthalmol Vis Sci 46 (6), 2192-2201 (2005)
   PUBMED   15914641
REFERENCE   5  (bases 1 to 2408)
  AUTHORS   Stohr,H., Molday,L.L., Molday,R.S., Weber,B.H., Biedermann,B.,
            Reichenbach,A. and Kramer,F.
  TITLE     Membrane-associated guanylate kinase proteins MPP4 and MPP5
            associate with Veli3 at distinct intercellular junctions of the
            neurosensory retina
  JOURNAL   J Comp Neurol 481 (1), 31-41 (2005)
   PUBMED   15558731
REFERENCE   6  (bases 1 to 2408)
  AUTHORS   Conte,I., Lestingi,M., den Hollander,A., Miano,M.G., Alfano,G.,
            Circolo,D., Pugliese,M., Testa,F., Simonelli,F., Rinaldi,E.,
            Baiget,M., Banfi,S. and Ciccodicola,A.
  TITLE     Characterization of MPP4, a gene highly expressed in photoreceptor
            cells, and mutation analysis in retinitis pigmentosa
  JOURNAL   Gene 297 (1-2), 33-38 (2002)
   PUBMED   12384283
  REMARK    GeneRIF: MPP4 gene is highly expressed in retina, but no mutations
            were identified in a panel of 300 unrelated patients with retinitis
            pigmentosa.
REFERENCE   7  (bases 1 to 2408)
  AUTHORS   Hadano,S., Hand,C.K., Osuga,H., Yanagisawa,Y., Otomo,A.,
            Devon,R.S., Miyamoto,N., Showguchi-Miyata,J., Okada,Y.,
            Singaraja,R., Figlewicz,D.A., Kwiatkowski,T., Hosler,B.A.,
            Sagie,T., Skaug,J., Nasir,J., Brown,R.H. Jr., Scherer,S.W.,
            Rouleau,G.A., Hayden,M.R. and Ikeda,J.E.
  TITLE     A gene encoding a putative GTPase regulator is mutated in familial
            amyotrophic lateral sclerosis 2
  JOURNAL   Nat Genet 29 (2), 166-173 (2001)
   PUBMED   11586298
REFERENCE   8  (bases 1 to 2408)
  AUTHORS   Stohr,H. and Weber,B.H.
  TITLE     Cloning and characterization of the human retina-specific gene
            MPP4, a novel member of the p55 subfamily of MAGUK proteins
  JOURNAL   Genomics 74 (3), 377-384 (2001)
   PUBMED   11414766
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007279.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_033066.2.
            
            Summary: This gene encodes a member of the membrane-associated
            guanylate kinase (MAGUK) protein family, with an N-terminal PDZ
            domain, a central src homology 3 region (SH3), and a C-terminal
            guanylate kinase-like (GUK) domain. The protein is localized to the
            outer limiting membrane in the retina, and is thought to function
            in photoreceptor polarity and the organization of specialized
            intercellular junctions. Alternatively spliced transcript variants
            have been described, but their biological validity has not been
            determined. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF316032.1, SRR1660803.133631.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1966682,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409474.8/ ENSP00000387278.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                AC007279.4         66937-66994
            59-237              AC007279.4         71527-71705
            238-359             AC007279.4         72552-72673
            360-437             AC007279.4         75302-75379
            438-518             AC007279.4         78210-78290
            519-650             AC007279.4         79531-79662
            651-732             AC007279.4         80436-80517
            733-818             AC007279.4         82665-82750
            819-890             AC007279.4         84014-84085
            891-1087            AC007279.4         84547-84743
            1088-1152           AC007279.4         90310-90374
            1153-1170           AC007279.4         95831-95848
            1171-1209           AC007279.4         99209-99247
            1210-1230           AC007279.4         101480-101500
            1231-1245           AC007279.4         105235-105249
            1246-1287           AC007279.4         107063-107104
            1288-1458           AC007279.4         109213-109383
            1459-1539           AC007279.4         110664-110744
            1540-1633           AC007279.4         115416-115509
            1634-1742           AC007279.4         115897-116005
            1743-1877           AC007279.4         117756-117890
            1878-2408           AC007279.4         120177-120707
FEATURES             Location/Qualifiers
     source          1..2408
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..2408
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /note="MAGUK p55 scaffold protein 4"
                     /db_xref="GeneID:58538"
                     /db_xref="HGNC:HGNC:13680"
                     /db_xref="MIM:606575"
     exon            1..58
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            59..237
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..2072
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /note="amyotrophic lateral sclerosis 2 chromosomal region
                     candidate gene 5 protein; discs large homolog 6; membrane
                     protein, palmitoylated 4 (MAGUK p55 subfamily member 4);
                     membrane palmitoylated protein 4"
                     /codon_start=1
                     /product="MAGUK p55 subfamily member 4"
                     /protein_id="NP_149055.2"
                     /db_xref="CCDS:CCDS46491.1"
                     /db_xref="GeneID:58538"
                     /db_xref="HGNC:HGNC:13680"
                     /db_xref="MIM:606575"
                     /translation="MIQSDKGADPPDKKDMKLSTATNPQNGLSQILRLVLQELSLFYG
                     RDVNGVCLLYDLLHSPWLQALLKIYDCLQEFKEKKLVPATPHAQVLSYEVVELLRETP
                     TSPEIQELRQMLQAPHFKALLSAHDTIAQKDFEPLLPPLPDNIPESEEAMRIVCLVKN
                     QQPLGATIKRHEMTGDILVARIIHGGLAERSGLLYAGDKLVEVNGVSVEGLDPEQVIH
                     ILAMSRGTIMFKVVPVSDPPVNSQQMVYVRAMTEYWPQEDPDIPCMDAGLPFQKGDIL
                     QIVDQNDALWWQARKISDPATCAGLVPSNHLLKRKQREFWWSQPYQPHTCLKSTLSIS
                     MEEEDDMKIDEKCVEADEETFESEELSEDKEEFVGYGQKFFIAGFRRSMRLCRRKSHL
                     SPLHASVCCTGSCYSAVGAPYEEVVRYQRRPSDKYRLIVLMGPSGVGVNELRRQLIEF
                     NPSHFQSAVPHTTRTKKSYEMNGREYHYVSKETFENLIYSHRMLEYGEYKGHLYGTSV
                     DAVQTVLVEGKICVMDLEPQDIQGVRTHELKPYVIFIKPSNMRCMKQSRKNAKVITDY
                     YVDMKFKDEDLQEMENLAQRMETQFGQFFDHVIVNDSLHDACAQLLSAIQKAQEEPQW
                     VPATWISSDTESQ"
     exon            238..359
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            360..437
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            438..518
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            519..650
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            651..732
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            733..818
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            819..890
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            891..1087
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1152
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1170
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1209
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1230
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1245
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1287
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1458
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1539
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1540..1633
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1742
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1743..1877
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1878..2408
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2366..2371
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /note="hexamer: AATAAA"
     regulatory      2388..2393
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /note="hexamer: AATAAG"
     polyA_site      2389
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /note="major polyA site"
     polyA_site      2408
                     /gene="MPP4"
                     /gene_synonym="ALS2CR5; DLG6"
                     /note="major polyA site"
ORIGIN      
        1 gtatcctact aaagcttttg tctggatagg agcaacatgc atgtttacag tcttgcagtg
       61 tgctgagagc tggtggccag tgggactgag tgagctgtgt gccgtgtatt gacccgcttc
      121 ctagtcctga attcctttca gaagctccgg cagggaggat gatacagtca gacaaaggag
      181 cagatccacc agacaagaag gacatgaagc tttctacagc caccaatcca cagaatggcc
      241 tctcccagat cctgaggctt gtgctgcaag agctgagtct gttctacggc agagatgtga
      301 atggagtgtg tctcttgtac gatctcctcc actcgccgtg gcttcaggct ctgctaaaga
      361 tttatgactg cctccaggaa tttaaagaaa agaaactagt tcctgccaca ccacatgcac
      421 aggtgttatc ctatgaggta gtggagttat tacgtgaaac ccctacttcc cctgagatcc
      481 aagagctgag acaaatgctc caggctccac acttcaaggc cttgctcagt gcccatgaca
      541 cgatagctca gaaagatttt gaaccccttc tccctccact gccagacaat atccctgaga
      601 gtgaggaagc aatgaggatt gtttgtttag tgaaaaacca acagcccctg ggagccacca
      661 tcaagcgcca cgagatgaca ggggacatct tggtggccag gatcatccac ggtgggctgg
      721 cggagagaag tgggttgcta tatgctggag acaaactggt agaagtgaat ggagtttcag
      781 ttgagggact ggaccctgaa caagtgatcc atattctggc catgtctcga ggcacaatca
      841 tgttcaaggt ggttccagtc tctgaccctc ctgtgaatag ccagcagatg gtgtacgtcc
      901 gtgccatgac tgagtactgg ccccaggagg atcccgacat cccctgcatg gacgctggat
      961 tgcctttcca gaagggggac atcctccaga ttgtggacca gaatgatgcc ctctggtggc
     1021 aggcccgaaa aatctcagac cctgctacct gcgctgggct tgtcccttct aaccaccttc
     1081 tgaagaggaa gcaacgggaa ttctggtggt ctcagccgta ccagcctcac acctgcctca
     1141 agtcaaccct atcaatttct atggaagaag aagatgacat gaagattgat gagaaatgtg
     1201 tggaagcaga tgaagaaaca tttgaatctg aggaactttc agaagacaag gaggagtttg
     1261 ttggctacgg tcagaagttc tttatagctg gcttccgccg cagcatgcgc ctttgtcgca
     1321 ggaagtctca cctcagcccg ctgcatgcca gtgtgtgctg caccggcagc tgctacagtg
     1381 cagtgggtgc cccttacgag gaggtggtga ggtaccagcg acgcccttca gacaagtacc
     1441 gcctcatagt gctcatggga ccctctggtg ttggagtaaa tgagctcaga agacaactta
     1501 ttgaatttaa tcccagccat tttcaaagtg ctgtgccaca cactactcgt actaaaaaga
     1561 gttacgaaat gaatgggcgt gagtatcact atgtgtccaa ggaaacattt gaaaacctca
     1621 tatatagtca caggatgctg gagtatggtg agtacaaagg ccacctgtat ggcactagtg
     1681 tggatgctgt tcaaacagtc cttgtcgaag gaaagatctg tgtcatggac ctagagcctc
     1741 aggatattca aggggttcga acccatgaac tgaagcccta tgtcatattt ataaagccat
     1801 cgaatatgag gtgtatgaaa caatctcgga aaaatgccaa ggttattact gactactatg
     1861 tggacatgaa gttcaaggat gaagacctac aagagatgga aaatttagcc caaagaatgg
     1921 aaactcagtt tggccaattt tttgatcatg tgattgtgaa tgacagcttg cacgatgcat
     1981 gtgcccagtt gttgtctgcc atacagaagg ctcaggagga gcctcagtgg gtaccagcaa
     2041 catggatttc ctcagatact gagtctcaat gagacttctt gtttaatgct ggagttttaa
     2101 cactgtaccc ttgatacagc gatccatagt tgcaatctaa aacaacagta tttgacccat
     2161 tttaatgtgt acaactttaa aagtgcagca atttattaat taatcttatt tgaaaaaaat
     2221 ttttattgta tggttatgtg gttacctatt ttaacttaat tttttttcct ttacctcata
     2281 tgcagctgtg gtagaaatat gaataatgtt aagtcactga gtatgagaac ctttcgcaga
     2341 tttcacatga tctttttaag atttaaataa agagctttcc taaataaaat aagcaatagt
     2401 taacttta
//
