LOCUS       NM_001253852            3173 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens adaptor related protein complex 4 subunit beta 1
            (AP4B1), transcript variant 2, mRNA.
ACCESSION   NM_001253852
VERSION     NM_001253852.3
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 3173)
  AUTHORS   Salayev,K., Rocca,C., Kaiyrzhanov,R., Guliyeva,U., Guliyeva,S.,
            Mursalova,A., Rahman,F., Anwar,N., Zafar,F., Jan,F., Rana,N.,
            Maqbool,S., Efthymiou,S. and Houlden,H.
  CONSRTM   SYNAPS Study Group; QUEEN SQUARE Genomics
  TITLE     AP4B1-associated hereditary spastic paraplegia: Expansion of
            clinico-genetic phenotype and geographic range
  JOURNAL   Eur J Med Genet 65 (11), 104620 (2022)
   PUBMED   36122674
  REMARK    GeneRIF: AP4B1-associated hereditary spastic paraplegia: Expansion
            of clinico-genetic phenotype and geographic range.
REFERENCE   2  (bases 1 to 3173)
  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 3173)
  AUTHORS   Szczaluba,K., Mierzewska,H., Smigiel,R., Kosinska,J., Koppolu,A.,
            Biernacka,A., Stawinski,P., Pollak,A., Rydzanicz,M. and Ploski,R.
  TITLE     AP4B1-associated hereditary spastic paraplegia: expansion of
            phenotypic spectrum related to homozygous p.Thr387fs variant
  JOURNAL   J Appl Genet 61 (2), 213-218 (2020)
   PUBMED   32166732
  REMARK    GeneRIF: AP4B1-associated hereditary spastic paraplegia: expansion
            of phenotypic spectrum related to homozygous p.Thr387fs variant.
REFERENCE   4  (bases 1 to 3173)
  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 3173)
  AUTHORS   Cayrol,C., Cougoule,C. and Wright,M.
  TITLE     The beta2-adaptin clathrin adaptor interacts with the mitotic
            checkpoint kinase BubR1
  JOURNAL   Biochem Biophys Res Commun 298 (5), 720-730 (2002)
   PUBMED   12419313
REFERENCE   6  (bases 1 to 3173)
  AUTHORS   Takatsu,H., Futatsumori,M., Yoshino,K., Yoshida,Y., Shin,H.W. and
            Nakayama,K.
  TITLE     Similar subunit interactions contribute to assembly of clathrin
            adaptor complexes and COPI complex: analysis using yeast
            three-hybrid system
  JOURNAL   Biochem Biophys Res Commun 284 (4), 1083-1089 (2001)
   PUBMED   11409905
REFERENCE   7  (bases 1 to 3173)
  AUTHORS   Hirst,J., Bright,N.A., Rous,B. and Robinson,M.S.
  TITLE     Characterization of a fourth adaptor-related protein complex
  JOURNAL   Mol Biol Cell 10 (8), 2787-2802 (1999)
   PUBMED   10436028
REFERENCE   8  (bases 1 to 3173)
  AUTHORS   Dell'Angelica,E.C., Mullins,C. and Bonifacino,J.S.
  TITLE     AP-4, a novel protein complex related to clathrin adaptors
  JOURNAL   J Biol Chem 274 (11), 7278-7285 (1999)
   PUBMED   10066790
REFERENCE   9  (bases 1 to 3173)
  AUTHORS   Alecu,J., Schierbaum,L. and Ebrahimi-Fakhari,D.
  TITLE     AP-4-Associated Hereditary Spastic Paraplegia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30543385
REFERENCE   10 (bases 1 to 3173)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC368382.1, BC014146.2,
            AW072594.1, AL137856.24 and AI431352.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001253852.2.
            
            Summary: This gene encodes a subunit of a heterotetrameric
            adapter-like complex 4 that is involved in targeting proteins from
            the trans-Golgi network to the endosomal-lysosomal system.
            Mutations in this gene are associated with cerebral palsy spastic
            quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: SRR1803614.10126.1,
                                           SRR1803615.95238.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369569.6/ ENSP00000358582.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                DC368382.1         125-142
            19-2311             BC014146.2         1-2293
            2312-2619           AW072594.1         1-308               c
            2620-3019           AL137856.24        101435-101834       c
            3020-3173           AI431352.1         43-196              c
FEATURES             Location/Qualifiers
     source          1..3173
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..3173
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /note="adaptor related protein complex 4 subunit beta 1"
                     /db_xref="GeneID:10717"
                     /db_xref="HGNC:HGNC:572"
                     /db_xref="MIM:607245"
     exon            1..195
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..2302
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /note="isoform 1 is encoded by transcript variant 2; beta
                     4 subunit of AP-4; AP-4 complex subunit beta-1;
                     beta4-adaptin; spastic paraplegia 47; AP-4 adaptor complex
                     subunit beta; adaptor related protein complex 4 beta 1
                     subunit"
                     /codon_start=1
                     /product="AP-4 complex subunit beta-1 isoform 1"
                     /protein_id="NP_001240781.1"
                     /db_xref="CCDS:CCDS865.1"
                     /db_xref="GeneID:10717"
                     /db_xref="HGNC:HGNC:572"
                     /db_xref="MIM:607245"
                     /translation="MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGL
                     DMSGVFMEMVKASATVDIVQKKLVYLYMCTYAPLKPDLALLAINTLCKDCSDPNPMVR
                     GLALRSMCSLRMPGVQEYIQQPILNGLRDKASYVRRVAVLGCAKMHNLHGDSEVDGAL
                     VNELYSLLRDQDPIVVVNCLRSLEEILKQEGGVVINKPIAHHLLNRMSKLDQWGQAEV
                     LNFLLRYQPRSEEELFDILNLLDSFLKSSSPGVVMGATKLFLILAKMFPHVQTDVLVR
                     VKGPLLAACSSESRELCFVALCHVRQILHSLPGHFSSHYKKFFCSYSEPHYIKLQKVE
                     VLCELVNDENVQQVLEELRGYCTDVSADFAQAAIFAIGGIARTYTDQCVQILTELLGL
                     RQEHITTVVVQTFRDLVWLCPQCTEAVCQALPGCEENIQDSEGKQALIWLLGVHGERI
                     PNAPYVLEDFVENVKSETFPAVKMELLTALLRLFLSRPAECQDMLGRLLYYCIEEEKD
                     MAVRDRGLFYYRLLLVGIDEVKRILCSPKSDPTLGLLEDPAERPVNSWASDFNTLVPV
                     YGKAHWATISKCQGAERCDPELPKTSSFAASGPLIPEENKERVQELPDSGALMLVPNR
                     QLTADYFEKTWLSLKVAHQQVLPWRGEFHPDTLQMALQVVNIQTIAMSRAGSRPWKAY
                     LSAQDDTGCLFLTELLLEPGNSEMQISVKQNEARTETLNSFISVLETVIGTIEEIKS"
     exon            196..420
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /inference="alignment:Splign:2.1.0"
     exon            421..551
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /inference="alignment:Splign:2.1.0"
     exon            552..699
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /inference="alignment:Splign:2.1.0"
     exon            700..1196
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1280
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /inference="alignment:Splign:2.1.0"
     exon            1281..1384
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /inference="alignment:Splign:2.1.0"
     exon            1385..1592
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..1874
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /inference="alignment:Splign:2.1.0"
     exon            1875..3173
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2290..2295
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /note="hexamer: AATAAA"
     polyA_site      2311
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /note="major polyA site"
     regulatory      2595..2600
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /note="hexamer: ATTAAA"
     polyA_site      2619
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
     regulatory      3150..3155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
                     /note="hexamer: AATAAA"
     polyA_site      3173
                     /gene="AP4B1"
                     /gene_synonym="BETA-4; CPSQ5; SPG47"
ORIGIN      
        1 actcaggctc ccacatcagg acgagaagga gccctcgagt taccgtggga gctgtgggag
       61 ctgccctgtg actcttagga agatgccgta ccttggctcc gaggacgtgg tgaaggagct
      121 gaagaaggct ctgtgcaatc ctcacattca agctgatagg ctgcgctacc ggaatgtcat
      181 ccagcgagtg attaggtaca tgactcaagg cttggacatg tctggtgttt ttatggaaat
      241 ggtgaaggcc agtgccactg tagatattgt ccagaagaag ttggtttatc tgtacatgtg
      301 cacatatgct cccctgaaac cagatctggc tctcctggcc atcaatacgc tgtgcaaaga
      361 ctgctcagac cccaatccaa tggtgcgagg gctggcgtta cggagcatgt gtagcctcag
      421 gatgcctggt gtgcaggagt atatacaaca gcctattctc aatggtctgc gggataaggc
      481 ttcatatgtc aggagagtgg cagtccttgg atgtgccaag atgcataatc ttcatggaga
      541 ctctgaagta gatggtgccc tggtaaatga attatacagt ttgctgcgtg accaggatcc
      601 aattgtagtt gtgaactgct tgaggtctct agaggaaatt ctgaaacagg aaggaggcgt
      661 tgtcatcaat aagcccattg ctcaccatct cttaaatcga atgtcaaaac tggaccaatg
      721 gggccaggct gaagtattga actttctgct acgctaccaa ccccgcagtg aggaagaact
      781 atttgacatt ctcaatctgt tggatagttt cctcaagagc agtagcccag gtgtggtgat
      841 gggagctacc aaactttttc tgatcttggc aaaaatgttt ccccacgtac aaactgatgt
      901 ccttgtgcgg gtcaagggac ctttgctagc tgcctgttct tcagagagcc gtgagctctg
      961 ttttgttgct ctttgtcatg tacgccagat cttgcatagt ttaccaggtc actttagcag
     1021 ccactacaaa aagttttttt gctcctactc ggagccccac tacatcaaac tacagaaagt
     1081 ggaggtgctg tgtgaactgg tgaacgatga gaatgtgcag caggtgctag aggagcttcg
     1141 agggtactgc acggatgtgt ctgcggactt tgcacaggct gccatctttg ccataggtgg
     1201 cattgccagg acttacacag atcaatgtgt tcagatttta acagagttgc tgggtcttcg
     1261 acaagagcac attaccacag tggtggtgca gactttccga gacctggttt ggttgtgtcc
     1321 tcagtgtact gaagctgtat gtcaggccct gcccggctgt gaagagaaca ttcaagatag
     1381 tgaggggaag caagcactta tttggctact tggtgtccat ggggaaagaa ttcctaatgc
     1441 tccttatgtg ttagaggact ttgttgagaa tgtgaagtcg gaaacatttc cagctgttaa
     1501 gatggagctg ctcactgctt tgctgcgcct tttcctctcc cgacctgctg agtgccagga
     1561 catgctagga cgtttgttgt attactgcat agaggaagaa aaagatatgg ctgtacggga
     1621 ccgaggtctc ttctattatc gcctcctctt agttggcatt gatgaagtta agcggattct
     1681 gtgtagccct aaatctgacc ctactcttgg acttttggag gatccggcag aaagacctgt
     1741 gaatagctgg gcctcagact tcaacacact ggtgccagtg tatggcaaag cccactgggc
     1801 aactatctct aaatgccagg gggcagagcg ttgtgaccca gagcttccta aaacttcatc
     1861 ctttgccgca tcaggaccct tgattcctga agagaacaag gagagggtac aagaactccc
     1921 tgattctgga gccctcatgc tagtccccaa tcgccagctt actgctgatt attttgagaa
     1981 aacttggctt agccttaaag ttgctcatca gcaagtgttg ccttggcggg gagaattcca
     2041 tcctgacacc ctccagatgg ctcttcaagt agtgaacatc cagaccatcg caatgagtag
     2101 ggctgggtct cggccatgga aagcatacct cagtgctcag gatgatactg gctgtctgtt
     2161 cttaacagaa ctgctattgg agcctggaaa ctcagaaatg cagatctctg tgaaacaaaa
     2221 tgaagcaaga acggagacgc tgaatagttt tatttctgta ttagaaactg tgattggaac
     2281 aattgaagaa ataaaatcat aacagagtct tgttgcttgt ctagagtaag atgaataact
     2341 attacacttt cttagtcttt cctattagag ctgccagtaa gtccagataa tatcagatac
     2401 aaaggagagt ggaaaatcta gaaatcagga ttcttaagtt tttggccaaa gaacattgat
     2461 tcattccttt cattcctatt ggcaattgac cccatttttc agtgatgatg ttgtagaggt
     2521 taatgttggt aaggagatgc gttgaggatg ggatttggat tatttcctaa tcaattttag
     2581 gaattgtgtt agtaattaaa gatggctgat gtgtggaaac tgataggggt catcatttgt
     2641 gggggtcatc ttttcttccc tggattatta tagtaaattc ctaactgttc tcatatttcc
     2701 aatcatgctt ttaggccaga ttccaaagtc cttaatgtca tctaaagtac ctctttggtg
     2761 tcaagtcttg ccactcccaa aatgacttct tttctggcag aagcaaacca tttgcattgc
     2821 agttcccttt atacacctgc ttctttcacc tctgtgttaa cttaaacctg cttttattta
     2881 ttgcctggaa cattttctca ccctcatatc ttcttgaatt aacacctcgt ctatctttca
     2941 gtgttcagct cactcataag ctccttcagg aagtttcctt taaccctcac tgccttcatt
     3001 aggggcctcc ctcaagctat caaagtagcc agagcatacc tctagcagta gtattgtaat
     3061 tgttttcttg ttgcttgtcc tcaattttta ttctgttctt atctgaccac attttgtaca
     3121 ttgaagcaac ttatggcaag aacaaatcta ataaaatgat ggtaaaatat aaa
//
