LOCUS       NM_001376131            5999 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens BTB domain containing 8 (BTBD8), transcript variant 1,
            mRNA.
ACCESSION   NM_001376131
VERSION     NM_001376131.1
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 5999)
  AUTHORS   Piccini,A., Castroflorio,E., Valente,P., Guarnieri,F.C., Aprile,D.,
            Michetti,C., Bramini,M., Giansante,G., Pinto,B., Savardi,A.,
            Cesca,F., Bachi,A., Cattaneo,A., Wren,J.D., Fassio,A., Valtorta,F.,
            Benfenati,F. and Giovedi,S.
  TITLE     APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle
            Trafficking and Neuronal Development
  JOURNAL   Cell Rep 21 (12), 3596-3611 (2017)
   PUBMED   29262337
REFERENCE   2  (bases 1 to 5999)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 5999)
  AUTHORS   Xu,J., He,T., Wang,L., Wu,Q., Zhao,E., Wu,M., Dou,T., Ji,C., Gu,S.,
            Yin,K., Xie,Y. and Mao,Y.
  TITLE     Molecular cloning and characterization of a novel human BTBD8 gene
            containing double BTB/POZ domains
  JOURNAL   Int J Mol Med 13 (1), 193-197 (2004)
   PUBMED   14654994
  REMARK    GeneRIF: expression pattern of BTBD8 shows it may have a function
            related to brain development
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104836.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2499881.1,
                                           SRR14038195.1090365.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000636805.2/ ENSP00000490161.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-376               AC104836.2         28749-29124
            377-574             AC104836.2         37102-37299
            575-771             AC104836.2         50877-51073
            772-889             AC104836.2         56288-56405
            890-979             AC104836.2         78091-78180
            980-1060            AC104836.2         87754-87834
            1061-1157           AC104836.2         89519-89615
            1158-1246           AC104836.2         95584-95672
            1247-1349           AC104836.2         96088-96190
            1350-1532           AC104836.2         115362-115544
            1533-1670           AC104836.2         116252-116389
            1671-1800           AC104836.2         117270-117399
            1801-1862           AC104836.2         119803-119864
            1863-2580           AC104836.2         125233-125950
            2581-2668           AC104836.2         126215-126302
            2669-2808           AC104836.2         126716-126855
            2809-5139           AC104836.2         128669-130999
            5140-5999           AC104836.2         132268-133127
FEATURES             Location/Qualifiers
     source          1..5999
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     gene            1..5999
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /note="BTB domain containing 8"
                     /db_xref="GeneID:284697"
                     /db_xref="HGNC:HGNC:21019"
                     /db_xref="MIM:617945"
     exon            1..376
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     CDS             228..5606
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BTB/POZ domain-containing protein 8; double BTB/POZ domain
                     containing protein; BTB (POZ) domain containing 8; APache;
                     AP2-interacting clathrin-endocytosis protein; BTB domain
                     protein"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein 8 isoform 1"
                     /protein_id="NP_001363060.1"
                     /db_xref="CCDS:CCDS91000.1"
                     /db_xref="GeneID:284697"
                     /db_xref="HGNC:HGNC:21019"
                     /db_xref="MIM:617945"
                     /translation="MARCGEGSAAPMVLLGSAGVCSKGLQRKGPCERRRLKATVSEQL
                     SQDLLRLLREEFHTDVTFSVGCTLFKAHKAVLLARVPDFYFHTIGQTSNSLTNQEPIA
                     VENVEALEFRTFLQIIYSSNRNIKNYEEEILRKKIMEIGISQKQLDISFPKCENSSDC
                     SLQKHEIPEDISDRDDDFISNDNYDLEPASELGEDLLKLYVKPCCPDIDIFVDGKRFK
                     AHRAILSARSSYFAAMLSGCWAESSQEYVTLQGISHVELNVMMHFIYGGTLDIPDKTN
                     VGQILNMADMYGLEGLKEVAIYILRRDYCNFFQKPVPRTLTSILECLIIAHSVGVESL
                     FADCMKWIVKHFARFWSERSFANIPPEIQKSCLNMLIQSLNDKNAAFLLMESDRLIIS
                     LPRVKWTEAALTMASQLQEKCIAFIVDNFSKIIQSENFALLLQSQAMSSTADLLDTIL
                     KAIEENITTENSCSLLMALDTLLNSDSTKEMGFTCKIQALRDKLWIFLVQSFYAVRHT
                     ESWKLMSTDDQQKIQAAAFDKGDDRRLGKKPIFSSSQQRKQVSDSGDIKIKSWRGNNK
                     KECWSYLSTNKKMKSDGLGASGHSSSTNRNSINKTLKQDDVKEKDGTKIASKITKELK
                     TGGKNVSGKPKTVTKSKTENGDKARLENMSPRQVVERSATAAAAATGQKNLLNGKGVR
                     NQEGQISGARPKVLTGNLNVQAKAKPLKKATGKDSPCLSIAGPSSRSTDSSMEFSIST
                     ECLDEPKENGSTEEEKPSGHKLSFCDSPGQMMKNSVDSVKNSTVAIKSRPVSRVTNGT
                     SNKKSIHEQDTNVNNSVLKKVSGKGCSEPVPQAILKKRGTSNGCTAAQQRTKSTPSNL
                     TKTQGSQGESPNSVKSSVSSRQSDENVAKLDHNTTTEKQAPKRKMVKQVHTALPKVNA
                     KIVAMPKNLNQSKKGETLNNKDSKQKMPPGQVISKTQPSSQRPLKHETSTVQKSMFHD
                     VRDNNNKDSVSEQKPHKPLINLASEISDAEALQSSCRPDPQKPLNDQEKEKLALECQN
                     ISKLDKSLKHELESKQICLDKSETKFPNHKETDDCDAANICCHSVGSDNVNSKFYSTT
                     ALKYMVSNPNENSLNSNPVCDLDSTSAGQIHLISDRENQVGRKDTNKQSSIKCVEDVS
                     LCNPERTNGTLNSAQEDKKSKVPVEGLTIPSKLSDESAMDEDKHATADSDVSSKCFSG
                     QLSEKNSPKNMETSESPESHETPETPFVGHWNLSTGVLHQRESPESDTGSATTSSDDI
                     KPRSEDYDAGGSQDDDGSNDRGISKCGTMLCHDFLGRSSSDTSTPEELKIYDSNLRIE
                     VKMKKQSNNDLFQVNSTSDDEIPRKRPEIWSRSAIVHSRERENIPRGSVQFAQEIDQV
                     SSSADETEDERSEAENVAENFSISNPAPQQFQGIINLAFEDATENECREFSATKKFKR
                     SVLLSVDECEELGSDEGEVHTPFQASVDSFSPSDVFDGISHEHHGRTCYSRFSRESED
                     NILECKQNKGNSVCKNESTVLDLSSIDSSRKNKQSVSATEKKNTIDVLSSRSRQLLRE
                     DKKVNNGSNVENDIQQRSKFLDSDVKSQERPCHLDLHQREPNSDIPKNSSTKSLDSFR
                     SQVLPQEGPVKESHSTTTEKANIALSAGDIDDCDTLAQTRMYDHRPSKTLSPIYEMDV
                     IEAFEQKVESETHVTDMDFEDDQHFAKQDWTLLKQLLSEQDSNLDVTNSVPEDLSLAQ
                     YLINQTLLLARDSSKPQGITHIDTLNRWSELTSPLDSSASITMASFSSEDCSPQGEWT
                     ILELETQH"
     exon            377..574
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            575..771
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            772..889
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            890..979
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            980..1060
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1157
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..1246
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1349
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1532
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            1533..1670
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            1671..1800
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            1801..1862
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            1863..2580
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            2581..2668
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            2669..2808
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            2809..5139
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     exon            5140..5999
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5973..5978
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /note="hexamer: AATAAA"
     polyA_site      5999
                     /gene="BTBD8"
                     /gene_synonym="KIAA1107"
                     /note="major polyA site"
ORIGIN      
        1 cttcctgggt caagagccgg ctcggttctg ggattctgag gctccccacc gcggtccggc
       61 ttctctggga gactgtctac aaaccgacga gaggcgtcaa ccttttaccc tagggggcgg
      121 atttgggtag gagccgagcg ttcggtcgga aacgccccct tcttcctcct gggcggggca
      181 agtgaggcca agtactgggc ctccagggcg tcgtacctct gtgagacatg gctcgctgtg
      241 gggaaggcag tgcggccccc atggtacttc tggggtccgc tggagtttgc agtaaggggt
      301 tgcaaaggaa ggggccgtgt gagcggcgcc ggctgaaggc gacggtgtcg gagcagctca
      361 gccaggattt gctcaggctt ctaagggaag aattccatac agatgttacc ttctctgtgg
      421 gttgtacttt gttcaaagca cacaaagcag tccttttagc aagagttcct gacttctatt
      481 ttcatactat tggacagaca tcaaatagtt taacaaatca ggagcctatt gctgtggaga
      541 atgttgaagc tttagaattt agaacgtttt tacagattat atattcatca aacagaaaca
      601 taaaaaacta tgaagaggaa attcttagga aaaagataat ggagattggg atatcacaaa
      661 agcaacttga catcagtttt ccaaagtgtg aaaactcatc tgattgttct cttcagaagc
      721 atgaaattcc agaggatatc agtgacagag atgatgattt catttccaat gataattatg
      781 acttggagcc tgcatctgaa ttaggagaag atttattgaa gctttatgtg aaaccttgtt
      841 gcccagatat tgatattttt gttgatggaa aacgttttaa agctcacagg gccattttga
      901 gtgccagatc tagttatttt gctgcaatgc tgagtggctg ttgggctgaa agctcccaag
      961 agtacgttac tcttcaaggt ataagccatg tagaactgaa tgttatgatg cattttatat
     1021 atggaggaac tctggacatt ccagacaaaa ctaatgttgg tcagatactc aatatggctg
     1081 atatgtatgg actagaagga ttaaaagaag tagcaatcta tattttaaga agagattact
     1141 gtaatttctt tcagaagcct gttcccagaa cattgacgtc tatactagaa tgcctgatta
     1201 ttgctcattc agttggagtg gaaagtcttt ttgctgactg catgaagtgg attgtaaagc
     1261 attttgcaag gttttggtct gagagaagct ttgcaaatat acctcctgag attcagaaaa
     1321 gttgtcttaa tatgttgatt cagtccttaa atgataagaa tgctgctttt cttctgatgg
     1381 aaagtgacag gctaatcatc agtttaccca gagtgaagtg gacggaagca gcactgacca
     1441 tggcgtctca gcttcaagaa aaatgtattg catttattgt agacaacttc tccaagatta
     1501 ttcagagtga aaattttgct cttcttttac agtcacaagc aatgagcagc acagccgatc
     1561 tgttggacac aattttaaaa gcaattgaag aaaatatcac cactgaaaat agctgctctc
     1621 ttcttatggc tctggacaca ctgctgaact ctgacagtac aaaggaaatg ggttttacgt
     1681 gcaagatcca ggctctgcgt gataagctgt ggatcttcct ggttcagtct ttctatgctg
     1741 ttcgtcacac agaaagctgg aagctgatga gcacagatga tcaacagaaa atccaagcag
     1801 ctgcatttga caaaggtgat gatcgaagac ttggcaaaaa gcctatattc agtagctcgc
     1861 agcaaaggaa acaagtttct gactctggtg atataaaaat caaatcttgg aggggaaata
     1921 acaagaaaga gtgttggagt tatctctcta ctaataaaaa gatgaaatct gatggattag
     1981 gagcatctgg acattcgtca agtaccaata gaaatagtat aaataaaact ctgaagcaag
     2041 atgatgtaaa ggaaaaagat ggtacaaaaa tagcatctaa gattacaaaa gaactaaaaa
     2101 ctgggggaaa aaatgtttct ggaaagccca aaactgtaac aaaatccaaa acagaaaatg
     2161 gtgataaggc acggttggaa aacatgtcac ctagacaagt tgtagaaaga tcagcaacag
     2221 cagcagcagc agcaactgga cagaagaatt tactaaatgg aaaaggagtg agaaatcagg
     2281 aagggcaaat ttcaggtgcc agacccaagg tactcacagg aaacttaaat gtgcaagcca
     2341 aagcaaagcc tttgaagaaa gctacaggga aggattcacc atgcctcagc atcgcaggac
     2401 cctccagcag atccacagat tcaagtatgg aattctcaat ttccactgaa tgtctggatg
     2461 aaccgaaaga aaatggatca acagaagaag aaaagccttc tggacataaa ctatcctttt
     2521 gtgattctcc aggacagatg atgaaaaaca gtgtagatag tgtcaaaaat tccactgtag
     2581 ccataaaatc tcgacctgtt tcaagagtta ccaatggaac ttccaataaa aaaagtattc
     2641 atgaacaaga cactaatgta aataacagtg tactaaagaa agtcagtggc aaaggatgta
     2701 gtgagccagt accacaggca attttgaaga aaagaggaac tagcaatgga tgtactgcag
     2761 ctcagcagag gacaaagagt accccatcta atcttactaa aactcaagga tcccaaggag
     2821 agtcaccaaa ctcagtaaaa tcttcagtct cttcaaggca gtctgatgaa aatgtggcaa
     2881 agttggacca caatacaact acagagaaac aagcacctaa gagaaaaatg gtcaagcaag
     2941 tacacacagc tttgcctaag gttaatgcaa aaatagtggc aatgcctaaa aatctaaatc
     3001 agtcaaagaa aggtgaaact ttgaataata aagattcaaa acagaaaatg cctcctggac
     3061 aggttatatc aaaaactcag ccttcctccc aaagaccttt aaaacatgaa acatctactg
     3121 tccaaaaaag tatgtttcat gatgtgcgtg ataataacaa caaggacagt gtttctgaac
     3181 agaagcctca caaacctctc attaatcttg catctgaaat aagtgatgca gaagcactcc
     3241 agtcatcctg caggcctgac ccacaaaagc cattaaacga tcaagaaaaa gagaagttgg
     3301 cgttagaatg ccaaaatatt tcaaagctgg ataaatcatt aaaacacgaa ctggaatcaa
     3361 aacagatttg tttagataaa agtgaaacaa aatttcccaa tcacaaagaa acagatgatt
     3421 gcgatgcagc taacatatgt tgtcattctg ttgggagtga taatgtaaat tcaaaatttt
     3481 atagcaccac agccctaaaa tacatggttt caaatccaaa tgaaaactcc ttgaactcta
     3541 atccagtttg tgatttagac tcaacaagtg cagggcaaat ccatttgata tcagataggg
     3601 agaaccaagt agggagaaaa gatacaaaca aacaatcaag tattaaatgt gtggaagatg
     3661 tttcactgtg taatcctgaa aggacaaatg gtaccttaaa ttctgctcaa gaagacaaaa
     3721 aatcgaaagt tcctgtggaa ggactgacaa ttcctagtaa gttgtcagat gaatctgcta
     3781 tggatgaaga caaacatgct acagcagact cagatgtatc ttccaagtgt ttttcgggac
     3841 agctatcaga aaaaaattct cctaaaaata tggaaacatc agaatctcca gagagccatg
     3901 aaactccaga aactccattt gtgggtcact ggaatttgag tactggtgtt ctgcatcagc
     3961 gagagagtcc tgaatctgac actggcagtg ctaccacctc ctccgatgac ataaagccca
     4021 gatctgaaga ctatgatgct ggagggtctc aggatgatga tgggtcaaat gacagaggta
     4081 tctctaaatg tggcactatg ctgtgccatg attttcttgg aagaagtagc agtgatacca
     4141 gtactcctga agaattaaaa atttatgata gtaatttaag aattgaagta aaaatgaaaa
     4201 agcaaagtaa taatgatctt ttccaagtta attcaacgag tgatgatgaa atccctagga
     4261 aaaggccaga aatttggtct cgatctgcaa tagttcactc tagggaaaga gaaaatattc
     4321 cacgaggcag tgtccagttt gctcaggaaa tagatcaggt atcttcttca gcagatgaaa
     4381 cagaagatga aagatctgaa gctgaaaacg ttgcagaaaa tttctctata tctaacccag
     4441 ctcctcagca gtttcaggga ataattaatt tagcttttga agatgcaact gaaaatgaat
     4501 gtcgtgaatt ttctgcaact aaaaagttta aaaggtcagt tttactttca gtcgatgaat
     4561 gtgaagagct gggatcagat gaaggagaag tccatactcc ctttcaggct tctgtagatt
     4621 ctttttcacc ttctgatgtt tttgatggca tttctcatga acatcatgga aggacctgct
     4681 attccagatt ctcacgagaa agtgaagata atattttaga atgtaaacaa aataaaggca
     4741 atagtgtatg taaaaatgaa agcactgtct tggatcttag tagcattgac tcttcaagaa
     4801 aaaataaaca gagtgtttca gccacagaaa aaaagaacac aatagacgtc ctatccagta
     4861 gaagcagaca gcttcttcga gaagataaaa aagtaaacaa tggaagcaat gtggaaaatg
     4921 acattcagca acgcagcaaa ttcttggata gtgatgtaaa atctcaagaa agaccatgtc
     4981 acttggatct tcatcaaaga gaacccaatt ctgacatacc aaagaacagc tctacaaaat
     5041 ctctagactc ctttcggagt caagttctgc ctcaggaagg tccagtgaaa gagagccatt
     5101 ctacaactac tgaaaaagct aatattgctt tatctgcagg agacatagat gattgtgaca
     5161 cactggcaca aacccgcatg tatgaccatc ggccttcaaa aaccctgtct ccaatatatg
     5221 agatggatgt aatagaagca tttgagcaga aagtggaatc agaaacacat gttacagata
     5281 tggattttga agatgaccaa cattttgcaa aacaagattg gacactacta aagcaactgc
     5341 tctctgaaca ggattcaaac ttagatgtta caaattccgt tcctgaagac ttaagtttag
     5401 cacagtatct aatcaatcag acactacttt tagcacgaga tagctcaaaa cctcagggta
     5461 taacacatat tgacactttg aacagatgga gtgaactaac atctccactt gattcctcag
     5521 cgagcatcac catggctagt ttttcctctg aagattgttc gcctcaaggc gagtggacaa
     5581 ttctggaact ggaaactcag cattaagtgt taacattttg gaaaaattta tgccactcct
     5641 ttattttttg atgcctatat tatatccaaa tgataattgc attagccgga tataaacttt
     5701 ctttaatatt gagtctttcc aatttaatga ggtaaacata gtttatttat taatatatca
     5761 catatagaaa aatgtttttc taaagttttt gagcatgttt tctctaatta ttagagaaat
     5821 tagaagactt ataaggaaac cctagcttca gttttccttt cctagctgat gatttgttca
     5881 cttaatcatt attcaagaat ttaaaatgtg aatgcagaag tagatcagtc cctttacttt
     5941 ttgctctgca tagggtaaca tagtaattta acaataaaaa cttaccgtgc ttgtgtcca
//
