ZN548_HUMAN
ID ZN548_HUMAN Reviewed; 533 AA.
AC Q8NEK5; Q96M05;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Zinc finger protein 548;
GN Name=ZNF548;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS SER-58 AND
RP THR-73.
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-528 (ISOFORM 2), AND VARIANT
RP THR-73.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-516, 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 -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NEK5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NEK5-2; Sequence=VSP_019453;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AC003002; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC030788; AAH30788.1; -; mRNA.
DR EMBL; AK057494; BAB71509.1; -; mRNA.
DR CCDS; CCDS46209.1; -. [Q8NEK5-1]
DR CCDS; CCDS54324.1; -. [Q8NEK5-2]
DR RefSeq; NP_001166244.1; NM_001172773.1. [Q8NEK5-2]
DR RefSeq; NP_690873.2; NM_152909.3. [Q8NEK5-1]
DR AlphaFoldDB; Q8NEK5; -.
DR SMR; Q8NEK5; -.
DR BioGRID; 127076; 5.
DR IntAct; Q8NEK5; 2.
DR STRING; 9606.ENSP00000337555; -.
DR iPTMnet; Q8NEK5; -.
DR PhosphoSitePlus; Q8NEK5; -.
DR BioMuta; ZNF548; -.
DR DMDM; 296453046; -.
DR MassIVE; Q8NEK5; -.
DR MaxQB; Q8NEK5; -.
DR PaxDb; Q8NEK5; -.
DR PeptideAtlas; Q8NEK5; -.
DR PRIDE; Q8NEK5; -.
DR ProteomicsDB; 73171; -. [Q8NEK5-1]
DR ProteomicsDB; 73172; -. [Q8NEK5-2]
DR Antibodypedia; 33250; 51 antibodies from 15 providers.
DR DNASU; 147694; -.
DR Ensembl; ENST00000336128.12; ENSP00000337555.6; ENSG00000188785.12. [Q8NEK5-2]
DR Ensembl; ENST00000366197.9; ENSP00000379482.3; ENSG00000188785.12. [Q8NEK5-1]
DR GeneID; 147694; -.
DR KEGG; hsa:147694; -.
DR MANE-Select; ENST00000336128.12; ENSP00000337555.6; NM_001172773.2; NP_001166244.1. [Q8NEK5-2]
DR UCSC; uc002qom.4; human. [Q8NEK5-1]
DR CTD; 147694; -.
DR DisGeNET; 147694; -.
DR GeneCards; ZNF548; -.
DR HGNC; HGNC:26561; ZNF548.
DR HPA; ENSG00000188785; Low tissue specificity.
DR neXtProt; NX_Q8NEK5; -.
DR OpenTargets; ENSG00000188785; -.
DR PharmGKB; PA134889718; -.
DR VEuPathDB; HostDB:ENSG00000188785; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163177; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; Q8NEK5; -.
DR OMA; RIHNGEW; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q8NEK5; -.
DR TreeFam; TF339848; -.
DR PathwayCommons; Q8NEK5; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q8NEK5; -.
DR BioGRID-ORCS; 147694; 6 hits in 1094 CRISPR screens.
DR ChiTaRS; ZNF548; human.
DR GenomeRNAi; 147694; -.
DR Pharos; Q8NEK5; Tdark.
DR PRO; PR:Q8NEK5; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8NEK5; protein.
DR Bgee; ENSG00000188785; Expressed in gingival epithelium and 184 other tissues.
DR ExpressionAtlas; Q8NEK5; baseline and differential.
DR Genevisible; Q8NEK5; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; 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; 10.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 11.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 6.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 11.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
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..533
FT /note="Zinc finger protein 548"
FT /id="PRO_0000242160"
FT DOMAIN 8..79
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 197..219
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 225..247
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 253..275
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 281..303
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 309..331
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 337..359
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 365..387
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 393..415
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 421..443
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 449..471
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 477..499
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT CROSSLNK 516
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 6
FT /note="G -> GPLAMAEMDPTQG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019453"
FT VARIANT 58
FT /note="A -> S (in dbSNP:rs17856896)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_026845"
FT VARIANT 73
FT /note="A -> T (in dbSNP:rs4801478)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_026846"
FT CONFLICT 377
FT /note="N -> S (in Ref. 3; BAB71509)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 533 AA; 62728 MW; BFC3DDE9C74E0C98 CRC64;
MNLTEGRVVF EDVAIYFSQE EWGHLDEAQR LLYRDVMLEN LALLSSLGSW HGAEDEEAPS
QQGFSVGVSE VTASKPCLSS QKVHPSETCG PPLKDILCLV EHNGIHPEQH IYICEAELFQ
HPKQQIGENL SRGDDWIPSF GKNHRVHMAE EIFTCMEGWK DLPATSCLLQ HQGPQSEWKP
YRDTEDREAF QTGQNDYKCS ECGKTFTCSY SFVEHQKIHT GERSYECNKC GKFFKYSANF
MKHQTVHTSE RTYECRECGK SFMYNYRLMR HKRVHTGERP YECNTCGKFF RYSSTFVRHQ
RVHTGERPYE CRECGKFFMD SSTLIKHQRV HTGERPYKCN DCGKFFRYIS TLIRHQRIHT
GERPYECSVC GELFRYNSSL VKHWRNHTGE RPYKCSECGK SFRYHCRLIR HQRVHTGERP
YECSECGKFF RYNSNLIKHW RNHTGERPYE CRECGKAFSH KHILVEHQKI HSGERPYECS
ECQKAFIRKS HLVHHQKIHS EERLVCSMNV GNSLAKTPTS LNIRDFTMEK VYH
