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 05-OCT-2010, entry version 64. DE RecName: Full=Zinc finger protein 548; GN Name=ZNF548; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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., RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., RA 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 RP SER-58 AND 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 RT project: 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 RP VARIANT 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). CC -!- FUNCTION: May be involved in transcriptional regulation. CC -!- SUBCELLULAR LOCATION: Nucleus (Probable). 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 Note=No experimental confirmation available; CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein CC family. CC -!- SIMILARITY: Contains 11 C2H2-type zinc fingers. CC -!- SIMILARITY: Contains 1 KRAB domain. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AC003002; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC030788; AAH30788.1; -; mRNA. DR EMBL; AK057494; BAB71509.1; -; mRNA. DR IPI; IPI00396374; -. DR IPI; IPI00910645; -. DR RefSeq; NP_001166244.1; -. DR RefSeq; NP_690873.2; -. DR UniGene; Hs.126905; -. DR ProteinModelPortal; Q8NEK5; -. DR PRIDE; Q8NEK5; -. DR Ensembl; ENST00000366197; ENSP00000379482; ENSG00000188785. DR GeneID; 147694; -. DR UCSC; uc002qom.1; human. DR UCSC; uc002qon.1; human. DR CTD; 147694; -. DR GeneCards; GC19P057902; -. DR HGNC; HGNC:26561; ZNF548. DR PharmGKB; PA134889718; -. DR eggNOG; prNOG11822; -. DR HOVERGEN; HBG018163; -. DR NextBio; 85687; -. DR ArrayExpress; Q8NEK5; -. DR Bgee; Q8NEK5; -. DR CleanEx; HS_ZNF548; -. DR Genevestigator; Q8NEK5; -. DR GermOnline; ENSG00000188785; Homo sapiens. DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell. DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW. DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro. DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; IEA:InterPro. DR GO; GO:0006350; P:transcription; IEA:UniProtKB-KW. DR InterPro; IPR001909; Krueppel-associated_box. DR InterPro; IPR007087; Znf_C2H2. DR InterPro; IPR015880; Znf_C2H2-like. DR InterPro; IPR013087; Znf_C2H2/integrase_DNA-bd. DR Gene3D; G3DSA:3.30.160.60; Znf_C2H2/integrase_DNA-bd; 11. DR Pfam; PF01352; KRAB; 1. DR Pfam; PF00096; zf-C2H2; 6. DR SMART; SM00349; KRAB; 1. DR SMART; SM00355; ZnF_C2H2; 11. DR SUPFAM; SSF109640; Krueppel-associated_box; 1. DR PROSITE; PS50805; KRAB; 1. DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 11. DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11. PE 2: Evidence at transcript level; KW Alternative splicing; Complete proteome; DNA-binding; Metal-binding; KW Nucleus; Polymorphism; Repeat; Transcription; KW Transcription regulation; Zinc; Zinc-finger. FT CHAIN 1 533 Zinc finger protein 548. FT /FTId=PRO_0000242160. FT DOMAIN 8 79 KRAB. FT ZN_FING 197 219 C2H2-type 1. FT ZN_FING 225 247 C2H2-type 2. FT ZN_FING 253 275 C2H2-type 3. FT ZN_FING 281 303 C2H2-type 4. FT ZN_FING 309 331 C2H2-type 5. FT ZN_FING 337 359 C2H2-type 6. FT ZN_FING 365 387 C2H2-type 7. FT ZN_FING 393 415 C2H2-type 8. FT ZN_FING 421 443 C2H2-type 9. FT ZN_FING 449 471 C2H2-type 10. FT ZN_FING 477 499 C2H2-type 11. FT VAR_SEQ 6 6 G -> GPLAMAEMDPTQG (in isoform 2). FT /FTId=VSP_019453. FT VARIANT 58 58 A -> S (in dbSNP:rs17856896). FT /FTId=VAR_026845. FT VARIANT 73 73 A -> T (in dbSNP:rs4801478). FT /FTId=VAR_026846. FT CONFLICT 377 377 N -> S (in Ref. 3; BAB71509). 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 //