ZN248_HUMAN
ID ZN248_HUMAN Reviewed; 579 AA.
AC Q8NDW4; Q8NDV8; Q9UMP3;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Zinc finger protein 248;
GN Name=ZNF248;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RX PubMed=12566394; DOI=10.1101/gr.644503;
RA Guy J., Hearn T., Crosier M., Mudge J., Viggiano L., Koczan D.,
RA Thiesen H.-J., Bailey J.A., Horvath J.E., Eichler E.E., Earthrowl M.E.,
RA Deloukas P., French L., Rogers J., Bentley D., Jackson M.S.;
RT "Genomic sequence and transcriptional profile of the boundary between
RT pericentromeric satellites and genes on human chromosome arm 10p.";
RL Genome Res. 13:159-172(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Duodenum;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 235-579.
RA Hearn T.;
RL Thesis (1999), University of Newcastle upon Tyne, United Kingdom.
RN [6]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-341, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC Q8NDW4; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12163557, EBI-16439278;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NDW4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NDW4-2; Sequence=VSP_045321;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AJ491695; CAD36954.1; -; mRNA.
DR EMBL; AJ492196; CAD37332.1; -; mRNA.
DR EMBL; AJ245587; CAB52547.1; -; Genomic_DNA.
DR EMBL; AL135791; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471072; EAW85897.1; -; Genomic_DNA.
DR EMBL; CH471072; EAW85899.1; -; Genomic_DNA.
DR EMBL; BC110869; AAI10870.1; -; mRNA.
DR EMBL; BC146820; AAI46821.1; -; mRNA.
DR CCDS; CCDS58077.1; -. [Q8NDW4-2]
DR CCDS; CCDS7194.1; -. [Q8NDW4-1]
DR RefSeq; NP_001254526.1; NM_001267597.1. [Q8NDW4-1]
DR RefSeq; NP_001254534.1; NM_001267605.1. [Q8NDW4-2]
DR RefSeq; NP_001254535.1; NM_001267606.1. [Q8NDW4-2]
DR RefSeq; NP_066383.1; NM_021045.2. [Q8NDW4-1]
DR RefSeq; XP_006717548.1; XM_006717485.3.
DR RefSeq; XP_011517899.1; XM_011519597.2.
DR RefSeq; XP_011517900.1; XM_011519598.2.
DR RefSeq; XP_011517901.1; XM_011519599.1. [Q8NDW4-2]
DR RefSeq; XP_011517902.1; XM_011519600.2. [Q8NDW4-2]
DR RefSeq; XP_016871934.1; XM_017016445.1. [Q8NDW4-1]
DR RefSeq; XP_016871935.1; XM_017016446.1.
DR RefSeq; XP_016871939.1; XM_017016450.1.
DR AlphaFoldDB; Q8NDW4; -.
DR SMR; Q8NDW4; -.
DR BioGRID; 121447; 10.
DR IntAct; Q8NDW4; 2.
DR STRING; 9606.ENSP00000379208; -.
DR iPTMnet; Q8NDW4; -.
DR PhosphoSitePlus; Q8NDW4; -.
DR BioMuta; ZNF248; -.
DR DMDM; 47606299; -.
DR jPOST; Q8NDW4; -.
DR MassIVE; Q8NDW4; -.
DR MaxQB; Q8NDW4; -.
DR PaxDb; Q8NDW4; -.
DR PeptideAtlas; Q8NDW4; -.
DR PRIDE; Q8NDW4; -.
DR ProteomicsDB; 73067; -.
DR ProteomicsDB; 73069; -. [Q8NDW4-1]
DR Antibodypedia; 26721; 121 antibodies from 18 providers.
DR DNASU; 57209; -.
DR Ensembl; ENST00000357328.8; ENSP00000349882.4; ENSG00000198105.16. [Q8NDW4-1]
DR Ensembl; ENST00000374648.7; ENSP00000363778.3; ENSG00000198105.16. [Q8NDW4-2]
DR Ensembl; ENST00000395867.8; ENSP00000379208.3; ENSG00000198105.16. [Q8NDW4-1]
DR Ensembl; ENST00000611278.4; ENSP00000484191.1; ENSG00000198105.16. [Q8NDW4-2]
DR GeneID; 57209; -.
DR KEGG; hsa:57209; -.
DR MANE-Select; ENST00000395867.8; ENSP00000379208.3; NM_021045.3; NP_066383.1.
DR UCSC; uc001izc.5; human. [Q8NDW4-1]
DR CTD; 57209; -.
DR DisGeNET; 57209; -.
DR GeneCards; ZNF248; -.
DR HGNC; HGNC:13041; ZNF248.
DR HPA; ENSG00000198105; Low tissue specificity.
DR neXtProt; NX_Q8NDW4; -.
DR OpenTargets; ENSG00000198105; -.
DR PharmGKB; PA37619; -.
DR VEuPathDB; HostDB:ENSG00000198105; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000161962; -.
DR HOGENOM; CLU_002678_0_12_1; -.
DR InParanoid; Q8NDW4; -.
DR OMA; QIVHMGK; -.
DR OrthoDB; 1770242at2759; -.
DR PhylomeDB; Q8NDW4; -.
DR TreeFam; TF337898; -.
DR PathwayCommons; Q8NDW4; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q8NDW4; -.
DR BioGRID-ORCS; 57209; 10 hits in 1102 CRISPR screens.
DR ChiTaRS; ZNF248; human.
DR GenomeRNAi; 57209; -.
DR Pharos; Q8NDW4; Tdark.
DR PRO; PR:Q8NDW4; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8NDW4; protein.
DR Bgee; ENSG00000198105; Expressed in middle temporal gyrus and 189 other tissues.
DR ExpressionAtlas; Q8NDW4; baseline and differential.
DR Genevisible; Q8NDW4; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd07765; KRAB_A-box; 1.
DR InterPro; IPR001909; KRAB.
DR InterPro; IPR036051; KRAB_dom_sf.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF01352; KRAB; 1.
DR Pfam; PF00096; zf-C2H2; 7.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 7.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 7.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 7.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 8.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Isopeptide bond; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation;
KW Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..579
FT /note="Zinc finger protein 248"
FT /id="PRO_0000047482"
FT DOMAIN 8..79
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 240..264
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 380..402
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 408..430
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 436..458
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 464..486
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 492..514
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 520..543
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 548..570
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT CROSSLNK 341
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 111..579
FT /note="VSVENGDRGSKTFNLGTDPVSLRNYPYKICDSCEMNLKNISGLIISKKNCSR
FT KKPDEFNVCEKLLLDIRHEKIPIGEKSYKYDQKRNAINYHQDLSQPSFGQSFEYSKNGQ
FT GFHDEAAFFTNKRSQIGETVCKYNECGRTFIESLKLNISQRPHLEMEPYGCSICGKSFC
FT MNLRFGHQRALTKDNPYEYNEYGEIFCDNSAFIIHQGAYTRKILREYKVSDKTWEKSAL
FT LKHQIVHMGGKSYDYNENGSNFSKKSHLTQLRRAHTGEKTFECGECGKTFWEKSNLTQH
FT QRTHTGEKPYECTECGKAFCQKPHLTNHQRTHTGEKPYECKQCGKTFCVKSNLTEHQRT
FT HTGEKPYECNACGKSFCHRSALTVHQRTHTGEKPFICNECGKSFCVKSNLIVHQRTHTG
FT EKPYKCNECGKTFCEKSALTKHQRTHTGEKPYECNACGKTFSQRSVLTKHQRIHTRVKA
FT LSTS -> WNLKLIKVE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12566394,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_045321"
FT VARIANT 218
FT /note="K -> E (in dbSNP:rs11011379)"
FT /id="VAR_052800"
SQ SEQUENCE 579 AA; 67087 MW; 3BB9B20FDFC9A879 CRC64;
MNKSQEQVSF KDVCVDFTQE EWYLLDPAQK ILYRDVILEN YSNLVSVGYC ITKPEVIFKI
EQGEEPWILE KGFPSQCHPE RKWKVDDVLE SSQENEDDHF WELLFHNNKT VSVENGDRGS
KTFNLGTDPV SLRNYPYKIC DSCEMNLKNI SGLIISKKNC SRKKPDEFNV CEKLLLDIRH
EKIPIGEKSY KYDQKRNAIN YHQDLSQPSF GQSFEYSKNG QGFHDEAAFF TNKRSQIGET
VCKYNECGRT FIESLKLNIS QRPHLEMEPY GCSICGKSFC MNLRFGHQRA LTKDNPYEYN
EYGEIFCDNS AFIIHQGAYT RKILREYKVS DKTWEKSALL KHQIVHMGGK SYDYNENGSN
FSKKSHLTQL RRAHTGEKTF ECGECGKTFW EKSNLTQHQR THTGEKPYEC TECGKAFCQK
PHLTNHQRTH TGEKPYECKQ CGKTFCVKSN LTEHQRTHTG EKPYECNACG KSFCHRSALT
VHQRTHTGEK PFICNECGKS FCVKSNLIVH QRTHTGEKPY KCNECGKTFC EKSALTKHQR
THTGEKPYEC NACGKTFSQR SVLTKHQRIH TRVKALSTS
