LOCUS       NM_001039886            3585 bp    mRNA    linear   PRI 27-OCT-2024
DEFINITION  Homo sapiens zinc finger protein 808 (ZNF808), transcript variant
            1, mRNA.
ACCESSION   NM_001039886 XM_496321 XM_937353
VERSION     NM_001039886.4
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 3585)
  AUTHORS   De Franco,E., Owens,N.D.L., Montaser,H., Wakeling,M.N.,
            Saarimaki-Vire,J., Triantou,A., Ibrahim,H., Balboa,D.,
            Caswell,R.C., Jennings,R.E., Kvist,J.A., Johnson,M.B.,
            Muralidharan,S., Ellard,S., Wright,C.F., Maddirevula,S.,
            Alkuraya,F.S., Hanley,N.A., Flanagan,S.E., Otonkoski,T.,
            Hattersley,A.T. and Imbeault,M.
  CONSRTM   Pancreatic Agenesis Gene Discovery Consortium
  TITLE     Primate-specific ZNF808 is essential for pancreatic development in
            humans
  JOURNAL   Nat Genet 55 (12), 2075-2081 (2023)
   PUBMED   37973953
  REMARK    GeneRIF: Primate-specific ZNF808 is essential for pancreatic
            development in humans.
REFERENCE   2  (bases 1 to 3585)
  AUTHORS   Alqahtani,M.A., Al-Qahtani,S.M., Al-Falki,Y.H., Alharby,E.,
            Albulym,O.M. and Almontashiri,N.A.M.
  TITLE     Biallelic loss of function variant in ZNF808 is associated with
            non-syndromic neonatal diabetes
  JOURNAL   Clin Genet 104 (4), 497-498 (2023)
   PUBMED   37308312
  REMARK    GeneRIF: Biallelic loss of function variant in ZNF808 is associated
            with non-syndromic neonatal diabetes.
REFERENCE   3  (bases 1 to 3585)
  AUTHORS   Tsuritani,K., Irie,T., Yamashita,R., Sakakibara,Y., Wakaguri,H.,
            Kanai,A., Mizushima-Sugano,J., Sugano,S., Nakai,K. and Suzuki,Y.
  TITLE     Distinct class of putative 'non-conserved' promoters in humans:
            comparative studies of alternative promoters of human and mouse
            genes
  JOURNAL   Genome Res 17 (7), 1005-1014 (2007)
   PUBMED   17567985
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DW462787.1, DA094254.1, CR749856.1, BC130353.1 and AC022150.6.
            
            On May 17, 2019 this sequence version replaced NM_001039886.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.95924.1,
                                           SRR7346977.1846856.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359798.9/ ENSP00000352846.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-339               DW462787.1         28-366
            340-584             DA094254.1         319-563
            585-3230            CR749856.1         373-3018
            3231-3299           BC130353.1         232-300
            3300-3585           AC022150.6         65611-65896
FEATURES             Location/Qualifiers
     source          1..3585
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..3585
                     /gene="ZNF808"
                     /gene_synonym="PAGEN3"
                     /note="zinc finger protein 808"
                     /db_xref="GeneID:388558"
                     /db_xref="HGNC:HGNC:33230"
                     /db_xref="MIM:620970"
     exon            1..44
                     /gene="ZNF808"
                     /gene_synonym="PAGEN3"
                     /inference="alignment:Splign:2.1.0"
     exon            45..146
                     /gene="ZNF808"
                     /gene_synonym="PAGEN3"
                     /inference="alignment:Splign:2.1.0"
     exon            147..228
                     /gene="ZNF808"
                     /gene_synonym="PAGEN3"
                     /inference="alignment:Splign:2.1.0"
     CDS             166..2877
                     /gene="ZNF808"
                     /gene_synonym="PAGEN3"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 808 isoform 1"
                     /protein_id="NP_001034975.2"
                     /db_xref="CCDS:CCDS46167.1"
                     /db_xref="GeneID:388558"
                     /db_xref="HGNC:HGNC:33230"
                     /db_xref="MIM:620970"
                     /translation="MLREEAAQKRKGKESGMALPQGRLTFRDVAIEFSLAEWKFLNPA
                     QRALYREVMLENYRNLEAVDISSKHMMKEVLSTGQGNREVIHTGTLQRHQSYHIGDFC
                     FQEIEKEIHNIEFQCQEDERNGHEAPTTKIKKLTGSTDQHDHRHAGNKPIKDQLGSSF
                     YSHLPELHIFQIKGEIANQLEKSTSDASSVSTSQRISCRPQIHISNNYGNNPLNSSLL
                     PQKQEVHMREKSFPCNESGKAFNCSSLLRKHQIPHLGDKQYKCDVCGKLFNHKQYLAC
                     HRRCHTGEKPYKCKECGKSFSYKSSLTCHHRLHTGVKPYKCNECGKVFRQNSALVIHK
                     AIHTGEKPYKCNECGKAFNQQSHLSRHQRLHTGVKPYKCKICEKAFACHSYLANHTRI
                     HSGEKTYKCNECGKAFNHQSSLARHHILHTGEKPYKCEECDKVFSQKSTLERHKRIHT
                     GEKPYKCKVCDTAFTCNSQLARHRRIHTGEKTYKCNECRKTFSRRSSLLCHRRLHSGE
                     KPYKCNQCGNTFRHRASLVYHRRLHTLEKSYKCTVCNKVFMRNSVLAVHTRIHTAKKP
                     YKCNECGKAFNQQSHLSRHRRLHTGEKPYKCEACDKVFGQKSALESHKRIHTGEKPYR
                     CQVCDTAFTWNSQLARHTRIHTGEKTYKCNECGKTFSYKSSLVWHRRLHGGEKSYKCK
                     VCDKAFVCRSYVAKHTRIHSGMKPYKCNECSKTFSNRSSLVCHRRIHSGEKPYKCSEC
                     SKTFSQKATLLCHRRLHSGEKPYKCNDCGNTFRHWSSLVYHRRLHTGEKSYKCTVCDK
                     AFVRNSYLARHIRIHTAEKPYKCNECGKAFNEQSHLSRHHRIHTGEKPYKCEACDKVF
                     SRKSHLKRHRIIHTGEKPYKCNECGKAFSDRSTLIHHQAIHGIGKFD"
     exon            229..355
                     /gene="ZNF808"
                     /gene_synonym="PAGEN3"
                     /inference="alignment:Splign:2.1.0"
     exon            356..3585
                     /gene="ZNF808"
                     /gene_synonym="PAGEN3"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aaacccggaa gcggatcggg tggagtgaag gtcacgtcgc catgatatct cttccaaatg
       61 cttgatgaaa aaggtggaag ggtcacttga cccagggagt tgaaggctgc agtgagccct
      121 gtttttgcca ccacactcca gcctgggatt gatttctaaa gactcatgtt acgtgaggaa
      181 gcagctcaga agaggaaagg aaaggagtca ggcatggctc ttcctcaggg acgcttgact
      241 ttcagggatg tggctataga attctcattg gcagagtgga aattcctgaa ccctgcacag
      301 agggctttgt acagggaagt gatgttggag aactacagga acctggaggc tgtggatatc
      361 tcttccaaac acatgatgaa ggaggtcttg tcaacagggc aaggcaatag agaagtgatc
      421 cacacaggga cattgcaaag acatcaaagt tatcacattg gagacttttg cttccaggaa
      481 attgagaaag aaattcataa cattgagttt cagtgtcaag aagatgaaag aaatggccat
      541 gaagcaccca cgacaaaaat aaaaaagttg actggtagca cagaccaaca tgatcacagg
      601 catgctggaa acaagcctat taaagatcag cttggatcaa gcttttattc acatctgcct
      661 gaactccaca tatttcagat caaaggtgaa attgctaatc aacttgagaa gtctaccagt
      721 gatgcttcct cagtttcaac atcccaaaga atttcctgta ggccccaaat ccatatttct
      781 aataactatg ggaataatcc cctgaattct tcattactcc cacaaaaaca ggaagtacac
      841 atgagagaaa aatctttccc atgtaatgag agtggcaaag cctttaattg tagctcactc
      901 ttaaggaaac accagatacc ccatttagga gacaaacaat ataaatgtga tgtatgtggc
      961 aagctcttta atcacaagca ataccttgca tgccatcgta gatgtcacac tggagagaaa
     1021 ccttacaagt gtaaagagtg tggaaagtcc ttcagttaca agtcatccct tacatgccat
     1081 catagacttc atactggagt aaaaccttac aagtgtaatg agtgtggcaa ggtctttcgt
     1141 caaaattcag cccttgtaat tcataaggca attcatactg gagagaaacc ttacaagtgt
     1201 aatgaatgtg gcaaggcttt taatcaacaa tcacaccttt cacgccatca aagacttcat
     1261 actggagtga aaccttacaa atgtaagatt tgtgagaagg cttttgcgtg tcattcctat
     1321 ctggcaaacc atactagaat tcatagtgga gagaaaacat acaagtgtaa tgagtgtggt
     1381 aaggctttta atcatcaatc aagccttgca cgtcatcata tacttcatac tggagagaaa
     1441 ccttacaaat gtgaagaatg tgacaaagtt ttcagtcaga aatcaaccct tgagagacat
     1501 aagagaattc atactggaga gaaaccatac aaatgtaagg tttgtgatac agctttcacg
     1561 tgtaattcac agctggcacg acatagaaga attcacactg gagagaaaac ttacaagtgt
     1621 aatgagtgtc gcaagacctt cagccgcagg tcatcccttc tatgccatcg tagacttcat
     1681 agtggtgaaa aaccttacaa gtgtaatcag tgtggcaata ccttccgtca ccgggcatcc
     1741 cttgtatacc atcgtagact tcacactcta gagaaatctt acaaatgtac ggtttgtaac
     1801 aaggttttca tgcgtaattc agtcctggct gtacatacta gaattcacac tgcaaagaaa
     1861 ccttacaagt gtaatgaatg tgggaaagct tttaatcaac aatcacatct ttcacgtcat
     1921 cgtagacttc atactggaga gaaaccttac aaatgtgaag catgtgacaa agtttttggt
     1981 cagaaatcag ctcttgagtc acataagaga attcatactg gagagaaacc atacagatgt
     2041 caggtttgtg acacagcttt cacgtggaat tcacagctgg cacgacatac aagaattcac
     2101 actggagaaa aaacttacaa gtgtaatgag tgtgggaaga ccttcagtta caagtcatca
     2161 cttgtatggc atcgtagact tcatggtgga gagaaatctt acaaatgtaa ggtttgtgac
     2221 aaggctttcg tgtgtcgttc ctatgtggca aaacatacta gaattcacag tggaatgaaa
     2281 ccttacaagt gtaatgagtg cagcaagacc ttcagtaaca ggtcatccct tgtatgccat
     2341 cgtagaattc atagtggtga gaaaccttac aagtgtagtg agtgcagcaa gacgttcagt
     2401 cagaaggcaa cccttctatg ccatcgtaga cttcatagtg gtgagaaacc ttacaagtgt
     2461 aacgactgtg gcaatacctt ccgtcactgg tcatcccttg tataccatcg tagacttcat
     2521 actggagaga aatcttacaa atgtacggtt tgtgacaagg ctttcgtgcg taattcatac
     2581 ctggcaagac atattagaat tcacactgca gagaaacctt acaagtgtaa tgaatgtgga
     2641 aaggctttta atgaacaatc acacctttca cgtcatcata gaattcatac tggagagaaa
     2701 ccttacaaat gtgaagcatg tgacaaagtt ttcagtcgca aatcacacct taaaagacat
     2761 aggataattc atactggaga gaaaccttac aagtgtaatg agtgtggcaa agcctttagt
     2821 gaccggtcaa cacttattca ccatcaggca attcatggta tagggaaatt tgattaatat
     2881 aatgattgtc acaaagtctt cagtaacact acaacaattg caaatcattg gagaatccat
     2941 gatgaagaga aatcttctga gtgtaataaa tgtggcatgt ttttcagaca ttgttcatac
     3001 attgcagttc attggcaacc tcatactgga gagaaacctt acaaatgtca tgattgaggc
     3061 aaggtcttca gtcaagcttc atcctatgca aaacaggaga attcatacag gagagaaacc
     3121 tcacaagtgt gatgattgtg gcaaagcctt tacttcacat tcacacctcg ttggacatca
     3181 gagaatccat actggacaga aatcttgcaa atgtcatcag tgtggcaagg tcttcagtcc
     3241 gaggtcactc cttgcagaac atgagaaaat tcatttttga gataactgtt cccaatgcag
     3301 tgagtatagc aaaccatcaa gcattaattg acattggagt caattcagca ttgacttgag
     3361 tttgtgttga cttaacattg agttcaagcc ttaattgaca ttcaagtgtt tatgttaaga
     3421 ggatggggcc aggtgtggtg gctcaggcct gtaatcccag cacgttggaa gaccaaggca
     3481 cataggtcac ttgaggtcag aagtttgaaa ccaccatggc caacagatgt cggccacttt
     3541 cgccatcctg ttttttgttt cttattttct tatttattta tttat
//
