LOCUS       NP_001248755            1215 aa            linear   PRI 27-APR-2025
DEFINITION  AP-3 complex subunit delta-1 isoform 3 [Homo sapiens].
ACCESSION   NP_001248755
VERSION     NP_001248755.1
DBSOURCE    REFSEQ: accession NM_001261826.3
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  (residues 1 to 1215)
  AUTHORS   Frohne,A., Koenighofer,M., Cetin,H., Nieratschker,M., Liu,D.T.,
            Laccone,F., Neesen,J., Nemec,S.F., Schwarz-Nemec,U., Schoefer,C.,
            Avraham,K.B., Frei,K., Grabmeier-Pfistershammer,K., Kratzer,B.,
            Schmetterer,K., Pickl,W.F. and Parzefall,T.
  TITLE     A homozygous AP3D1 missense variant in patients with sensorineural
            hearing loss as the leading manifestation
  JOURNAL   Hum Genet 142 (8), 1077-1089 (2023)
   PUBMED   36445457
  REMARK    GeneRIF: A homozygous AP3D1 missense variant in patients with
            sensorineural hearing loss as the leading manifestation.
REFERENCE   2  (residues 1 to 1215)
  AUTHORS   Gong,L., Bates,S., Li,J., Qiao,D., Glass,K., Wei,W., Hsu,V.W.,
            Zhou,X. and Silverman,E.K.
  TITLE     Connecting COPD GWAS Genes: FAM13A Controls TGFbeta2 Secretion by
            Modulating AP-3 Transport
  JOURNAL   Am J Respir Cell Mol Biol 65 (5), 532-543 (2021)
   PUBMED   34166600
  REMARK    GeneRIF: Connecting COPD GWAS Genes: FAM13A Controls TGFbeta2
            Secretion by Modulating AP-3 Transport.
REFERENCE   3  (residues 1 to 1215)
  AUTHORS   Bowman,S.L., Le,L., Zhu,Y., Harper,D.C., Sitaram,A., Theos,A.C.,
            Sviderskaya,E.V., Bennett,D.C., Raposo-Benedetti,G., Owen,D.J.,
            Dennis,M.K. and Marks,M.S.
  TITLE     A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into
            endosome-derived tubular transport carriers
  JOURNAL   J Cell Biol 220 (7) (2021)
   PUBMED   33886957
  REMARK    GeneRIF: A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into
            endosome-derived tubular transport carriers.
REFERENCE   4  (residues 1 to 1215)
  AUTHORS   Mohammed,M., Al-Hashmi,N., Al-Rashdi,S., Al-Sukaiti,N.,
            Al-Adawi,K., Al-Riyami,M. and Al-Maawali,A.
  TITLE     Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type
            10 associated with immunodeficiency and seizure disorder
  JOURNAL   Eur J Med Genet 62 (11), 103583 (2019)
   PUBMED   30472485
  REMARK    GeneRIF: We further demonstrated an abnormal storage pathway in the
            platelets. The current study represents a second confirmation
            report and implicates AP3D1 mutations as a cause of
            Hermansky-Pudlak Syndrome type 10.
REFERENCE   5  (residues 1 to 1215)
  AUTHORS   Montoliu,L. and Marks,M.S.
  TITLE     A new type of syndromic albinism associated with mutations in AP3D1
  JOURNAL   Pigment Cell Melanoma Res 30 (1), 5-7 (2017)
   PUBMED   27900855
REFERENCE   6  (residues 1 to 1215)
  AUTHORS   Honing,S., Sandoval,I.V. and von Figura,K.
  TITLE     A di-leucine-based motif in the cytoplasmic tail of LIMP-II and
            tyrosinase mediates selective binding of AP-3
  JOURNAL   EMBO J 17 (5), 1304-1314 (1998)
   PUBMED   9482728
REFERENCE   7  (residues 1 to 1215)
  AUTHORS   Dell'Angelica,E.C., Klumperman,J., Stoorvogel,W. and
            Bonifacino,J.S.
  TITLE     Association of the AP-3 adaptor complex with clathrin
  JOURNAL   Science 280 (5362), 431-434 (1998)
   PUBMED   9545220
REFERENCE   8  (residues 1 to 1215)
  AUTHORS   Ooi,C.E., Moreira,J.E., Dell'Angelica,E.C., Poy,G., Wassarman,D.A.
            and Bonifacino,J.S.
  TITLE     Altered expression of a novel adaptin leads to defective pigment
            granule biogenesis in the Drosophila eye color mutant garnet
  JOURNAL   EMBO J 16 (15), 4508-4518 (1997)
   PUBMED   9303295
REFERENCE   9  (residues 1 to 1215)
  AUTHORS   Simpson,F., Peden,A.A., Christopoulou,L. and Robinson,M.S.
  TITLE     Characterization of the adaptor-related protein complex, AP-3
  JOURNAL   J Cell Biol 137 (4), 835-845 (1997)
   PUBMED   9151686
REFERENCE   10 (residues 1 to 1215)
  AUTHORS   Introne,W.J., Huizing,M., Malicdan,M.C.V., O'Brien,K.J. and
            Gahl,W.A.
  TITLE     Hermansky-Pudlak Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301464
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY040370.1, AB208804.1,
            AC005545.1 and BM982261.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a subunit of the AP3
            adaptor-like complex, which is not clathrin-associated, but is
            associated with the golgi region, as well as more peripheral
            structures. The AP-3 complex facilitates the budding of vesicles
            from the golgi membrane, and may be directly involved in
            trafficking to lysosomes. This subunit is implicated in
            intracellular biogenesis and trafficking of pigment granules, and
            possibly platelet dense granules and neurotransmitter vesicles.
            Defects in this gene are a cause of a new type of Hermansky-Pudlak
            syndrome. [provided by RefSeq, Feb 2017].
            
            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 :: AB208804.1, SRR14038194.3810535.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000643116.3/ ENSP00000495274.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1215
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     Protein         1..1215
                     /product="AP-3 complex subunit delta-1 isoform 3"
                     /note="AP-3 complex subunit delta-1; delta adaptin; AP-3
                     complex delta subunit, partial CDS; subunit of putative
                     vesicle coat adaptor complex AP-3; adapter-related protein
                     complex 3 subunit delta-1; adaptor related protein complex
                     3 delta 1 subunit"
                     /calculated_mol_wt=136520
     Region          32..581
                     /region_name="Adaptin_N"
                     /note="Adaptin N terminal region; pfam01602"
                     /db_xref="CDD:396262"
     Region          151..172
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Site            order(164..165,168,171..172,201..202,205,208..209,212,
                     239..240,243,246,258,261,284..285,288,291..292,321..322,
                     325,328..329)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293787"
     Region          184..212
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          220..262
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          271..292
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          301..330
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          335..364
                     /region_name="HEAT repeat"
                     /note="HEAT repeat [structural motif]"
                     /db_xref="CDD:293787"
     Region          661..807
                     /region_name="AP3D1"
                     /note="AP-3 complex subunit delta-1; pfam06375"
                     /db_xref="CDD:461889"
     CDS             1..1215
                     /gene="AP3D1"
                     /gene_synonym="ADTD; hBLVR; HPS10"
                     /coded_by="NM_001261826.3:233..3880"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS58638.1"
                     /db_xref="GeneID:8943"
                     /db_xref="HGNC:HGNC:568"
                     /db_xref="MIM:607246"
ORIGIN      
        1 malkmvkgsi drmfdknlqd lvrgirnhke deakyisqci deikqelkqd niavkanavc
       61 kltylqmlgy diswaafnii evmsaskftf krigylaasq sfhegtdvim lttnqirkdl
      121 sspsqydtgv altglscfvt pdlardland imtlmshtkp yirkkavlim ykvflkypes
      181 lrpafprlke kledpdpgvq saavnvicel arrnpknyls laplffklmt sstnnwvlik
      241 iiklfgaltp leprlgkkli epltnlihst samsllyecv ntviavlisl ssgmpnhsas
      301 iqlcvqklri liedsdqnlk ylgllamski lkthpksvqs hkdlilqcld dkdesirlra
      361 ldllygmvsk knlmeivkkl mthvdkaegt tyrdelltki idicsqsnyq yitnfewyis
      421 ilveltrleg trhghliaaq mldvairvka irkfavsqms alldsahlla sstqrngice
      481 vlyaaawicg efsehlqeph htleamlrpr vttlpghiqa vyvqnvvkly asilqqkeqa
      541 geaegaqavt qlmvdrlpqf vqsadlevqe rascilqlvk hiqklqakdv pvaeevsalf
      601 agelnpvapk aqkkvpvpeg ldldawinep lsdseseder pravfheeeq rrpkhrpsea
      661 deeelarrre arkqeqannp fyiksspspq kryqdtpgve hipvvqidls vplkvpglpm
      721 sdqyvkleee rrhrqklekd krrkkrkeke kkgkrrhssl ptesdediap aqqvdivtee
      781 mpenalpsde ddkdpndpyr aldidldkpl adseklpiqk hrntetsksp ekdvpmvekk
      841 skkpkkkekk hkekerdkek kkekekkaed ldfwlsttpp papapapapv pstgelsvnt
      901 vttpkdeced akteaqgeed daegqdqdkk spkpkkkkhr kekeertkgk kkskkqppgs
      961 eeaagepvqn gapeeeqlpp essysllaen syvkmtcdir gslqedsqvt vaivlenrss
     1021 silkgmelsv ldslnarmar pqgssvhdgv pvpfqlppgv sneaqyvfti qsivmaqklk
     1081 gtlsfiaknd egathekldf rlhfscssyl ittpcysdaf akllesgdls mssikvdgir
     1141 msfqnllaki cfhhhfsvve rvdscasmys rsiqghhvcl lvkkgensvs vdgkcsdstl
     1201 lsnlleemka tlakc
//
