LOCUS       NP_066383                579 aa            linear   PRI 17-MAR-2025
DEFINITION  zinc finger protein 248 isoform 1 [Homo sapiens].
ACCESSION   NP_066383
VERSION     NP_066383.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 579)
  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  (residues 1 to 579)
  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  (residues 1 to 579)
  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  (residues 1 to 579)
  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  (residues 1 to 579)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..579
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p11.21"
     Protein         1..579
                     /product="zinc finger protein 248 isoform 1"
                     /note="Kruppel-type zinc finger protein; KRAB protein
                     domain; bA162G10.3 (zinc finger protein)"
                     /calculated_mol_wt=66956
     Region          8..68
                     /region_name="KRAB"
                     /note="krueppel associated box; smart00349"
                     /db_xref="CDD:214630"
     Region          220..236
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          244..264
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          358..374
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          382..402
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(387,389,391,393..394,397..398,401,415,417,421..422,
                     425..426,429,443,445,447,449..450,453..454,457)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          406..>472
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          410..430
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          438..458
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          462..>523
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          466..486
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          494..514
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(499,501,503,505..506,509..510,513,527,529,533..534,
                     537..538,541,555,557,559,561..562,565..566,569)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          506..529
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:463886"
     Region          522..542
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          534..559
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:463886"
     Region          550..570
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     CDS             1..579
                     /gene="ZNF248"
                     /gene_synonym="bA162G10.3"
                     /coded_by="NM_021045.3:552..2291"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7194.1"
                     /db_xref="GeneID:57209"
                     /db_xref="HGNC:HGNC:13041"
                     /db_xref="MIM:621128"
ORIGIN      
        1 mnksqeqvsf kdvcvdftqe ewylldpaqk ilyrdvilen ysnlvsvgyc itkpevifki
       61 eqgeepwile kgfpsqchpe rkwkvddvle ssqeneddhf wellfhnnkt vsvengdrgs
      121 ktfnlgtdpv slrnypykic dscemnlkni sgliiskknc srkkpdefnv cekllldirh
      181 ekipigeksy kydqkrnain yhqdlsqpsf gqsfeyskng qgfhdeaaff tnkrsqiget
      241 vckynecgrt fieslklnis qrphlemepy gcsicgksfc mnlrfghqra ltkdnpyeyn
      301 eygeifcdns afiihqgayt rkilreykvs dktweksall khqivhmggk sydynengsn
      361 fskkshltql rrahtgektf ecgecgktfw eksnltqhqr thtgekpyec tecgkafcqk
      421 phltnhqrth tgekpyeckq cgktfcvksn ltehqrthtg ekpyecnacg ksfchrsalt
      481 vhqrthtgek pficnecgks fcvksnlivh qrthtgekpy kcnecgktfc eksaltkhqr
      541 thtgekpyec nacgktfsqr svltkhqrih trvkalsts
//
