LOCUS       NM_021045               5143 bp    mRNA    linear   PRI 17-MAR-2025
DEFINITION  Homo sapiens zinc finger protein 248 (ZNF248), transcript variant
            1, mRNA.
ACCESSION   NM_021045
VERSION     NM_021045.3
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 5143)
  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   2  (bases 1 to 5143)
  AUTHORS   Wang,L., Salinas,Y.D. and DeWan,A.T.
  TITLE     Gene-based analysis identified the gene ZNF248 is associated with
            late-onset asthma in African Americans
  JOURNAL   Ann Allergy Asthma Immunol 117 (1), 50-55 (2016)
   PUBMED   27238579
  REMARK    GeneRIF: Smoking and obesity are risk factors for LOA. ZNF248
            confers increased susceptibility to LOA in African Americans.
REFERENCE   3  (bases 1 to 5143)
  AUTHORS   Cotsapas,C., Speliotes,E.K., Hatoum,I.J., Greenawalt,D.M.,
            Dobrin,R., Lum,P.Y., Suver,C., Chudin,E., Kemp,D., Reitman,M.,
            Voight,B.F., Neale,B.M., Schadt,E.E., Hirschhorn,J.N., Kaplan,L.M.
            and Daly,M.J.
  CONSRTM   GIANT Consortium
  TITLE     Common body mass index-associated variants confer risk of extreme
            obesity
  JOURNAL   Hum Mol Genet 18 (18), 3502-3507 (2009)
   PUBMED   19553259
  REMARK    Erratum:[Hum Mol Genet. 2010 Sep 15;19(18):3690-1]
REFERENCE   4  (bases 1 to 5143)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 5143)
  AUTHORS   Guy,J., Hearn,T., Crosier,M., Mudge,J., Viggiano,L., Koczan,D.,
            Thiesen,H.J., Bailey,J.A., Horvath,J.E., Eichler,E.E.,
            Earthrowl,M.E., Deloukas,P., French,L., Rogers,J., Bentley,D. and
            Jackson,M.S.
  TITLE     Genomic sequence and transcriptional profile of the boundary
            between pericentromeric satellites and genes on human chromosome
            arm 10p
  JOURNAL   Genome Res 13 (2), 159-172 (2003)
   PUBMED   12566394
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB073240.1, AJ491695.1, AA836603.1 and AL135791.12.
            
            On Aug 13, 2020 this sequence version replaced NM_021045.2.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). Variants 1, 2, and 6-11 all encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ491695.1, SRR14038197.404318.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395867.8/ ENSP00000379208.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                DB073240.1         27-78
            53-4935             AJ491695.1         1-4883
            4936-5141           AA836603.1         25-230              c
            5142-5143           AL135791.12        34588-34589         c
FEATURES             Location/Qualifiers
     source          1..5143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.21"
     gene            1..5143
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /note="zinc finger protein 248"
                     /db_xref="GeneID:57209"
                     /db_xref="HGNC:HGNC:13041"
                     /db_xref="MIM:621128"
     exon            1..426
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /inference="alignment:Splign:2.1.0"
     exon            427..524
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /inference="alignment:Splign:2.1.0"
     exon            525..566
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /inference="alignment:Splign:2.1.0"
     CDS             552..2291
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Kruppel-type zinc finger protein; KRAB protein domain;
                     bA162G10.3 (zinc finger protein)"
                     /codon_start=1
                     /product="zinc finger protein 248 isoform 1"
                     /protein_id="NP_066383.1"
                     /db_xref="CCDS:CCDS7194.1"
                     /db_xref="GeneID:57209"
                     /db_xref="HGNC:HGNC:13041"
                     /db_xref="MIM:621128"
                     /translation="MNKSQEQVSFKDVCVDFTQEEWYLLDPAQKILYRDVILENYSNL
                     VSVGYCITKPEVIFKIEQGEEPWILEKGFPSQCHPERKWKVDDVLESSQENEDDHFWE
                     LLFHNNKTVSVENGDRGSKTFNLGTDPVSLRNYPYKICDSCEMNLKNISGLIISKKNC
                     SRKKPDEFNVCEKLLLDIRHEKIPIGEKSYKYDQKRNAINYHQDLSQPSFGQSFEYSK
                     NGQGFHDEAAFFTNKRSQIGETVCKYNECGRTFIESLKLNISQRPHLEMEPYGCSICG
                     KSFCMNLRFGHQRALTKDNPYEYNEYGEIFCDNSAFIIHQGAYTRKILREYKVSDKTW
                     EKSALLKHQIVHMGGKSYDYNENGSNFSKKSHLTQLRRAHTGEKTFECGECGKTFWEK
                     SNLTQHQRTHTGEKPYECTECGKAFCQKPHLTNHQRTHTGEKPYECKQCGKTFCVKSN
                     LTEHQRTHTGEKPYECNACGKSFCHRSALTVHQRTHTGEKPFICNECGKSFCVKSNLI
                     VHQRTHTGEKPYKCNECGKTFCEKSALTKHQRTHTGEKPYECNACGKTFSQRSVLTKH
                     QRIHTRVKALSTS"
     exon            567..693
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /inference="alignment:Splign:2.1.0"
     exon            694..789
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /inference="alignment:Splign:2.1.0"
     exon            790..5143
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4913..4918
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /note="hexamer: AATAAA"
     polyA_site      4937
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /note="major polyA site"
     regulatory      5041..5046
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /note="hexamer: ATTAAA"
     polyA_site      5060
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
     regulatory      5120..5125
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /note="hexamer: AATAAA"
     polyA_site      5143
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
ORIGIN      
        1 ggggctgcgg gggagagcga ctgcgccagg tccgcgacaa atgaattaga cacaattatc
       61 cacgggagac tcggttttcc tctctgtaaa ttacggatat taggaatact tgccgcctgg
      121 ggttgttttg agcactttca ttgtttaggt gctgtattta ttgggtgtgc gttccctggg
      181 agagcccgag ggagacggct cctgcaccgg ccccaagggc ctctctgccc gtggagtgca
      241 ggagcgaagg ggctggccta gctgaccacc agggcccctg ctggctctga ccgccctcct
      301 atcccaagta attatttaca cgtttcgcgt tcgcttatgt attatgtgta atcatggcac
      361 agtatcctga agccgtcgga gtctgtgtgc tggtgcaagg tctgggacaa atttaagaag
      421 agagagaacc taaattggta ataaatcaat aagaaatatt tacattcact cagtgaaaag
      481 tgtcatgtct gagctcagca tatatcggag ccacacatgg acacctctcc ttcctccact
      541 aagagcggaa aatgaacaaa tcccaggaac aagtgtcatt caaggatgta tgtgtggact
      601 tcactcagga agagtggtat ctgctggacc ctgctcagaa gattctatac agagatgtga
      661 tcctggaaaa ttatagcaat cttgtctcag tagggtattg cattactaaa ccagaagtga
      721 tctttaagat cgagcaagga gaagagccct ggatattaga aaaaggattc ccaagccagt
      781 gccacccaga aaggaaatgg aaagttgatg acgtgttaga gagcagccag gaaaatgaag
      841 atgaccattt ttgggagctt ctattccaca acaacaaaac agtaagtgta gaaaatggag
      901 atagaggaag caaaactttc aatttgggca cagaccctgt ttctttaaga aattatccct
      961 ataaaatatg tgactcatgt gaaatgaatt tgaaaaatat ttcgggctta attattagta
     1021 aaaagaactg ttccagaaag aagcctgatg agtttaatgt atgtgagaaa ttgctccttg
     1081 atattaggca tgagaaaatc cctattggag agaagtctta taaatatgat caaaaaagga
     1141 atgccattaa ttatcaccag gatctcagtc agccaagttt tggccaatct tttgagtata
     1201 gtaaaaatgg acaaggcttc catgatgagg cagcattttt tacaaataag agatctcaga
     1261 taggagagac agtctgtaaa tataacgaat gtggaagaac cttcattgaa agtttaaagc
     1321 tgaatatatc tcaaagacct catttggaaa tggagccgta tggatgcagt atttgcggga
     1381 agtccttctg catgaattta aggtttggac atcagagagc tcttacaaag gacaatcctt
     1441 atgaatataa tgaatatggg gaaatcttct gtgacaattc agctttcatt atccatcagg
     1501 gagcttacac aagaaagatt ctccgtgaat ataaagtgag tgacaaaacc tgggaaaagt
     1561 cagctctctt aaaacatcaa atagtacaca tggggggaaa gtcttatgat tacaatgaaa
     1621 atgggagtaa tttcagcaag aagtcacatc ttacccagct tcggagagct cacacaggag
     1681 aaaaaacctt tgaatgtggt gaatgtggga aaaccttctg ggagaagtca aacctcactc
     1741 aacatcagag aacacacaca ggagagaagc cctatgaatg tactgaatgt gggaaagcct
     1801 tttgccagaa accacacctg accaaccatc agcgaacaca tacaggagaa aaaccctatg
     1861 aatgtaagca atgtggaaaa acattctgtg tgaagtcaaa cctcactgaa catcagagaa
     1921 cacacacagg ggagaagccc tatgaatgta atgcatgtgg gaaatccttc tgccacagat
     1981 cagccctcac tgtgcatcag agaacacaca caggggagaa accgtttata tgtaatgaat
     2041 gtggaaaatc cttctgtgtg aagtcaaacc tcattgtaca tcaaagaact cacactgggg
     2101 agaaaccata taagtgtaat gaatgtggga aaaccttctg tgaaaaatca gctctcacta
     2161 aacatcagag gactcacaca ggggagaagc cgtatgagtg taatgcatgt gggaagacct
     2221 ttagtcagag gtcagtgctc accaaacatc agagaattca cacaagggtg aaagctcttt
     2281 caacatcctg aatgttagaa gccttcatac acttgtgaaa ttggttatac agtttcaaaa
     2341 aaggagatca gagaaagcca aagaatgtca gaaatttgta gaaaatgact tcttgtttga
     2401 atatgtaaaa gctttcaaga aaaattaaaa cttttcatta gaaaatttgt actgagggga
     2461 attctattca tctaagtaat atggtgaaaa tatttatctg gaatttatgt tgtttagtgt
     2521 tatattccag acgtgatacc aaaattttgt tgcaaatata atggacaata tttatttata
     2581 cccatattca cagtggaatc tgaagcttat aaaagttgaa tgacagcagc attaaacata
     2641 tatgtgaaga gtccccgatg tttgtagacc ttatgtgagt atgcaaatat ataaatttga
     2701 gtatgcttga tttgtatatt ggaactcaac atgatcataa ggagaagata cgtaccctta
     2761 attgagtaac tactatggta tttgttaata ttttctacac taaataccat tggtgtcttt
     2821 ataggttgac ataattatat atgtgtatgt acatatgttt gtgtgtatat gtaaatatat
     2881 ttctacacac atacttaaat atagtgatgt gctagtataa cctcatactg acttaaaagt
     2941 tctgattgtt aaattttaag gaattttgtg agccagttat taaaagcagt cattatttaa
     3001 aatatgtaaa cttacagtta aaaacaaagg taataaatac tcagcactca tcacttccta
     3061 attattttgc tacatttcac tattaccttt gctgttttac ttatttaatc tgtatgatga
     3121 aaatactgta taatagtgtg cactgcacat ctgtctcttc ccagctccac attcagtgct
     3181 gtcttggtag cttggactta gtgggagtgt ttacaccatg gaaattgaca aactataaat
     3241 cagggtttta attttctcag agaacctgct gtcaaatatt tacagcacat cactgtgtat
     3301 atatgaaaac gtatttggca atacaaacca catacccctt ctatttcctg acataaataa
     3361 atggctatgg ccatttacag ctgaaccacg tcttcaagaa agaagccaaa aatatttccg
     3421 tgaggttttt aactacctct gaatctgtcc tactctaaat actaccggag tctctttgta
     3481 ggttggccag tatatgtttt tagtgaaata ttatttcaca aagaactata tcacgtacct
     3541 ttcctctgac tgtttcctgg catatatgca tgaatatggc cattattgaa ctatcacttc
     3601 agtaaagaag ttaaacagta cttttctgag gtttttcagc tacctctggg tcattctgta
     3661 atgtaaatgt tgttaataag aatggttttt acataaatta tgcaaaggtt aacaagcagt
     3721 aacactgcac tcctcaaaaa gtggcggtat gtaatgaaag gcccttttga tatccttgat
     3781 ttttcattgt gtatctgttt gggcacggtc tatgtaacac tagttctgcg tattagtatt
     3841 ttagagtatc tctgcctccc ttgtcctgtt gtttcttttg cccccttgga acacattggt
     3901 cagcagttct aagagacact gcccacatga tggccattcc ctacttcatc cttgctgagc
     3961 taaattttat atttttgtgc atccttctcc cagatgactt aggtggtaag tccagattag
     4021 tcaaagctaa tcatggaagt tccattttaa tgattctgtt ggggtgaact tgggagcaat
     4081 gagatgtttg ggaagtattg tgtagtactt ctgggaaaga tctccttgat acaacattgt
     4141 catgacatga gaagagactc tgctgggctt tttcatgtct gtaacatggt attggcttat
     4201 cgtttttatc tctgaagggc agtagcctga agataacagt gcacaaggtg ggaaaagcca
     4261 gctcagaggt gacgttgccg agctactctg ctctctatac ctgttctcta ctgggacttt
     4321 ttataaccct caataactgt tttttatttg gtcttagggc tgtctgatac ttagagctga
     4381 aggcattcca gctgacacag aggaatattt ttctaagtgt taatgttcta tatggtaatt
     4441 agggggaaga attatttctt ttcacaagtt aatataggga tggctgtttg tatcagccat
     4501 ggttctttct ggtggaaaac agaattctcc aactaaaaat attttaatgg cagactgatt
     4561 acagtggtgt gggccagaaa caagggacag tgaaacaccc agagacttgt atcagcagga
     4621 agccattgcc attctgagcc ttgaagggca aggagggaaa cagtgttacc agagcccagt
     4681 aagaactgct gtcatgaagg aggggccacc ttgtaagaga catcattact accagaactg
     4741 tggtgccaaa ttgctggtgt ctctctttgg agaaaccaac cagatacatc tgctggagag
     4801 cccaggtggg cacagagaag ggtggagaga gaatctggga agagaaatgg agaataagca
     4861 gcacagtgtt attcatttct gtaaattcct atgtagaagg ctcagtgtta gaaataaagt
     4921 tattctacta gttgcaagtt aagtgtttct gtttgttctg ctttcctgtt agcataagta
     4981 aactcccttt ggaactacac aggtatgtct ctccttcaac atgtgtgaag cagacattat
     5041 attaaattac attattcata cctccctgtg gtgtttctta ttgtatgtgg tgtaaggtaa
     5101 gcagctctgt attcttccaa ataaatagcc agttgtccct gca
//
