LOCUS       NM_206920               3681 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.
ACCESSION   NM_206920 XM_088463
VERSION     NM_206920.3
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 3681)
  AUTHORS   Cox,C.M., Wu,M.H., Padilla-Rodriguez,M., Blum,I., Momtaz,S.,
            Mitchell,S.A.T. and Wilson,J.M.
  TITLE     Regulation of YAP and Wnt signaling by the endosomal protein MAMDC4
  JOURNAL   PLoS One 19 (5), e0296003 (2024)
   PUBMED   38787854
  REMARK    GeneRIF: Regulation of YAP and Wnt signaling by the endosomal
            protein MAMDC4.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3681)
  AUTHORS   Pasternak,A.J., Hamonic,G.M., Van Kessel,A. and Wilson,H.L.
  TITLE     Postnatal regulation of MAMDC4 in the porcine intestinal epithelium
            is influenced by bacterial colonization
  JOURNAL   Physiol Rep 4 (21) (2016)
   PUBMED   27821716
  REMARK    GeneRIF: Expression is localized to the apical surface of the
            neonatal enterocyte and decreases over time in association with
            bacterial colonization of the intestine
REFERENCE   3  (bases 1 to 3681)
  AUTHORS   O'Rielly,D.D., Uddin,M., Codner,D., Hayley,M., Zhou,J.,
            Pena-Castillo,L., Mostafa,A.A., Hasan,S.M., Liu,W., Haroon,N.,
            Inman,R. and Rahman,P.
  TITLE     Private rare deletions in SEC16A and MAMDC4 may represent novel
            pathogenic variants in familial axial spondyloarthritis
  JOURNAL   Ann Rheum Dis 75 (4), 772-779 (2016)
   PUBMED   25956157
  REMARK    GeneRIF: Results suggest that it is the presence of rare syntenic
            SEC16A and MAMDC4 deletions that increases susceptibility to axial
            spondyloarthritis in family members who carry the HLA-B*27 allele.
REFERENCE   4  (bases 1 to 3681)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   5  (bases 1 to 3681)
  AUTHORS   Speelman,B.A., Allen,K., Grounds,T.L., Neutra,M.R., Kirchhausen,T.
            and Wilson,J.M.
  TITLE     Molecular characterization of an apical early endosomal
            glycoprotein from developing rat intestinal epithelial cells
  JOURNAL   J Biol Chem 270 (4), 1583-1588 (1995)
   PUBMED   7829488
  REMARK    GeneRIF: PMID:7829488 describes studies in rat, however, the human
            MAMDC4 gene product appears to be a homolog of rat apical early
            endosomal glycoprotein.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355987.31, AY358419.1, BF339007.1 and BQ270782.1.
            
            On Nov 23, 2018 this sequence version replaced NM_206920.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358419.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317446.7/ ENSP00000319388.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AL355987.31        130831-130851
            22-943              AY358419.1         1-922
            944-945             AL355987.31        133100-133101
            946-2792            AY358419.1         925-2771
            2793-2942           BF339007.1         159-308
            2943-3674           AY358419.1         2922-3653
            3675-3681           BQ270782.1         440-446
FEATURES             Location/Qualifiers
     source          1..3681
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..3681
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /note="MAM domain containing 4"
                     /db_xref="GeneID:158056"
                     /db_xref="HGNC:HGNC:24083"
                     /db_xref="MIM:617208"
     exon            1..117
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..3485
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /note="apical early endosomal glycoprotein; apical
                     endosomal glycoprotein; MAM domain-containing protein 4;
                     endotubin"
                     /codon_start=1
                     /product="apical endosomal glycoprotein precursor"
                     /protein_id="NP_996803.2"
                     /db_xref="CCDS:CCDS7010.1"
                     /db_xref="GeneID:158056"
                     /db_xref="HGNC:HGNC:24083"
                     /db_xref="MIM:617208"
                     /translation="MPLSSHLLPALVLFLAGSSGWAWVPNHCRSPGQAVCNFVCDCRD
                     CSDEAQCGYHGASPTLGAPFACDFEQDPCGWRDISTSGYSWLRDRAGAALEGPGPHSD
                     HTLGTDLGWYMAVGTHRGKEASTAALRSPTLREAASSCKLRLWYHAASGDVAELRVEL
                     THGAETLTLWQSTGPWGPGWQELAVTTGRIRGDFRVTFSATRNATHRGAVALDDLEFW
                     DCGLPTPQANCPPGHHHCQNKVCVEPQQLCDGEDNCGDLSDENPLTCGRHIATDFETG
                     LGPWNRSEGWSRNHRAGGPERPSWPRRDHSRNSAQGSFLVSVAEPGTPAILSSPEFQA
                     SGTSNCSLVFYQYLSGSEAGCLQLFLQTLGPGAPRAPVLLRRRRGELGTAWVRDRVDI
                     QSAYPFQILLAGQTGPGGVVGLDDLILSDHCRPVSEVSTLQPLPPGPRAPAPQPLPPS
                     SRLQDSCKQGHLACGDLCVPPEQLCDFEEQCAGGEDEQACGTTDFESPEAGGWEDASV
                     GRLQWRRVSAQESQGSSAAAAGHFLSLQRAWGQLGAEARVLTPLLGPSGPSCELHLAY
                     YLQSQPREVSCNFERDTCSWYPGHLSDTHWRWVESRGPDHDHTTGQGHFVLLDPTDPL
                     AWGHSAHLLSRPQVPAAPTECLSFWYHLHGPQIGTLRLAMRREGEETHLWSRSGTQGN
                     RWHEAWATLSHQPGSHAQYQLLFEGLRDGYHGTMALDDVAVRPGPCWAPNYCSFEDSD
                     CGFSPGGQGLWRRQANASGHAAWGPPTDHTTETAQGHYMVVDTSPDALPRGQTASLTS
                     KEHRPLAQPACLTFWYHGSLRSPGTLRVYLEERGRHQVLSLSAHGGLAWRLGSMDVQA
                     ERAWRVVFEAVAAGVAHSYVALDDLLLQDGPCPQPGSCDFESGLCGWSHLAWPGLGGY
                     SWDWGGGATPSRYPQPPVDHTLGTEAGHFAFFETGVLGPGGRAAWLRSEPLPATPASC
                     LRFWYHMGFPEHFYKGELKVLLHSAQGQLAVWGAGGHRRHQWLEAQVEVASAKEFQIV
                     FEATLGGQPALGPIALDDVEYLAGQHCQQPAPSPGNTAAPGSVPAVVGSALLLLMLLV
                     LLGLGGRRWLQKKGSCPFQSNTEATAPGFDNILFNADGVTLPASVTSDP"
     exon            118..225
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            226..399
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            400..525
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            526..656
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            657..741
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            742..867
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            868..1005
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1094
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1268
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1269..1353
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1542
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..1659
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1660..1791
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..1908
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1909..2043
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2044..2177
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2178..2397
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2398..2535
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2536..2654
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2655..2745
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2746..2892
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2893..3027
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            3028..3155
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            3156..3264
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            3265..3443
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     exon            3444..3681
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3650..3655
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /note="hexamer: AATAAA"
     polyA_site      3681
                     /gene="MAMDC4"
                     /gene_synonym="AEGP; EDTB"
                     /note="major polyA site"
ORIGIN      
        1 agcgcaggct gataaccgca cggaacttcc caggcaccct gtgtggccgc actgctccct
       61 ctggcccaac catgcctctg tccagccacc tgctgcccgc cttggtcctg ttcctggcag
      121 ggtcctcagg ctgggcctgg gtccccaacc actgcaggag ccctggccag gccgtgtgca
      181 acttcgtgtg tgactgcagg gactgctcag atgaggccca gtgtggttac cacggggcct
      241 cgcccaccct gggcgccccc ttcgcctgtg acttcgagca ggacccctgc ggctggcggg
      301 acattagtac ctcaggctac agctggctcc gagacagggc aggggccgca ctggagggtc
      361 ctgggcctca ctcagaccac acactgggca ccgacttggg ctggtacatg gccgttggaa
      421 cccaccgagg gaaagaggca tccaccgcag ccctgcgctc gccaaccctg cgagaggcag
      481 cctcctcttg caagctgagg ctctggtacc acgcggcctc tggagatgtg gctgaactgc
      541 gggtggagct gacccatggc gcagagaccc tgaccctgtg gcagagcaca gggccctggg
      601 gccctggctg gcaggagttg gcagtgacca caggccgcat ccggggtgac ttccgagtga
      661 ccttctctgc cacccgaaat gccacccaca ggggcgctgt ggctctagat gacctagagt
      721 tctgggactg tggtctgccc accccccagg ccaactgtcc cccgggacac caccactgcc
      781 agaacaaggt ctgcgtggag ccccagcagc tgtgcgacgg ggaagacaac tgcggggacc
      841 tgtctgatga gaacccactc acctgtggcc gccacatagc caccgacttt gagacaggcc
      901 tgggcccatg gaaccgctcg gaaggctggt cccggaacca ccgcgctggt ggtcctgagc
      961 gcccctcctg gccacgccgt gaccacagcc ggaacagtgc acagggctcc ttcctggtct
     1021 ccgtggccga gcctggcacc cctgctatac tctccagccc cgaattccaa gcctcaggca
     1081 cctccaactg ctcgctggtc ttctatcagt acctgagtgg gtctgaggct ggctgcctcc
     1141 agctgttcct gcagactctg gggcccggcg ccccccgggc ccccgtcctg ctgcggaggc
     1201 gccgagggga gctggggacc gcctgggtcc gagaccgtgt tgacatccag agcgcctacc
     1261 ccttccagat cctcctggcc gggcagacag gcccgggggg cgtcgtgggt ctggacgacc
     1321 tcatcctgtc tgaccactgc agaccagtct cggaggtgtc caccctgcag ccgctgcctc
     1381 ctgggccccg ggccccagcc ccccagcccc tgccgcccag ctcgcggctc caggattcct
     1441 gcaagcaggg gcatcttgcc tgcggggacc tgtgtgtgcc cccggaacaa ctgtgtgact
     1501 tcgaggagca gtgcgcaggg ggcgaggacg agcaggcctg tggcaccaca gactttgagt
     1561 cccccgaggc tgggggctgg gaggacgcca gcgtggggcg gctgcagtgg cggcgtgtct
     1621 cagcccagga gagccagggg tccagtgcag ctgctgctgg gcacttcctg tctctgcagc
     1681 gggcctgggg gcagctaggc gctgaggccc gggtcctcac acccctcctt ggcccttctg
     1741 gccccagctg tgaactccac ctggcttatt atttacagag ccagccccga gaggtctcct
     1801 gtaactttga gcgggacaca tgcagctggt acccaggcca cctctcagac acacactggc
     1861 gctgggtgga gagccgcggc cctgaccacg accacaccac aggccaaggc cactttgtgc
     1921 tcctggaccc cacagacccc ctggcctggg gccacagtgc ccacctgctc tccaggcccc
     1981 aggtgccagc agcacccacg gagtgtctca gcttctggta ccacctccat gggccccaga
     2041 ttgggactct gcgcctagcc atgagacggg aaggggagga gacacacctg tggtcgcggt
     2101 caggcaccca gggcaaccgc tggcacgagg cctgggccac cctttcccac cagcctggct
     2161 cccatgccca gtaccagctg ctgttcgagg gcctccggga cggataccac ggcaccatgg
     2221 cgctggacga tgtggccgtg cggccgggcc cctgctgggc ccctaattac tgctcctttg
     2281 aggactcaga ctgcggcttc tcccctggag gccaaggtct ctggaggcgg caggccaatg
     2341 cctcgggcca tgctgcctgg ggccccccaa cagaccatac cactgagaca gcccaagggc
     2401 actacatggt ggtggacaca agcccagacg cactaccccg gggccagacg gcctccctga
     2461 cctccaagga gcacaggccc ctggcccagc ctgcttgtct gaccttctgg taccacggga
     2521 gcctccgcag cccaggcacc ctgcgggtct acctggagga gcgcgggagg caccaggtgc
     2581 tcagcctcag tgcccacggc gggcttgcct ggcgcctggg cagcatggac gtgcaggccg
     2641 agcgagcctg gagggtggtg tttgaggcag tggccgcagg cgtggcacac tcctacgtgg
     2701 ctctggatga tctgctcctc caggacgggc cctgccctca gccaggttcc tgtgattttg
     2761 agtctggcct gtgtggctgg agccacctgg cctggcccgg cctgggcgga tacagctggg
     2821 actggggcgg gggagccacc ccctctcgtt acccccagcc ccctgtggac cacaccctgg
     2881 gcacagaggc aggccacttt gccttctttg aaactggcgt gctgggcccc gggggccggg
     2941 ccgcctggct gcgcagcgag cctctgccgg ccaccccagc ctcctgcctc cgcttctggt
     3001 accacatggg ttttcctgag cacttctaca agggggagct gaaggtactg ctgcacagtg
     3061 ctcagggcca gctggctgtg tggggcgcag gcgggcatcg gcggcaccag tggctggagg
     3121 cccaggtgga ggtagccagt gccaaggagt tccagatcgt gtttgaagcc actctgggcg
     3181 gccagccagc cctggggccc attgccctgg atgacgtgga gtatctggct gggcagcatt
     3241 gccagcagcc tgcccccagc ccggggaaca cagccgcacc cgggtctgtg ccagctgtgg
     3301 ttggcagtgc cctcctattg ctcatgctcc tggtgctgct gggacttggg ggacggcgct
     3361 ggctgcagaa gaaggggagc tgccccttcc agagcaacac agaggccaca gcccctggct
     3421 ttgacaacat ccttttcaat gcggatggtg tcaccctccc ggcatctgtc accagtgatc
     3481 cgtagaccac cccagacaag gccccgcttc ctcacgtgac atccagcact tggtcagacc
     3541 ctagccaggg accggacacc tgccccgccc aggctgggac aggctgcagg tctcaggata
     3601 tgctgaggcc tgggcgttcc ctgccctgtg ctgactctgt tgctctgtga ataaacaccc
     3661 tggcccatga gggcagccca a
//
