LOCUS ZN595_HUMAN 648 aa linear PRI 27-NOV-2024
DEFINITION RecName: Full=Zinc finger protein 595.
ACCESSION Q8IYB9
VERSION Q8IYB9.2
DBSOURCE UniProtKB: locus ZN595_HUMAN, accession Q8IYB9;
class: standard.
extra accessions:Q7Z3I0
created: Nov 23, 2004.
sequence updated: Mar 28, 2018.
annotation updated: Nov 27, 2024.
xrefs: BX537887.1, CAD97883.1, AC253576.2, BC036110.1, AAH36110.1,
BC043151.1, AAH43151.1, NP_001272981.1, NP_001272982.1,
NP_001272983.1, NP_872330.1
xrefs (non-sequence databases): CCDS:CCDS75075.1,
AlphaFoldDB:Q8IYB9, SMR:Q8IYB9, IntAct:Q8IYB9, MINT:Q8IYB9,
STRING:9606.ENSP00000477392, iPTMnet:Q8IYB9,
PhosphoSitePlus:Q8IYB9, BioMuta:ZNF595, jPOST:Q8IYB9,
MassIVE:Q8IYB9, PaxDb:9606-ENSP00000477392, PeptideAtlas:Q8IYB9,
ProteomicsDB:71154, Pumba:Q8IYB9, Antibodypedia:74373,
DNASU:152687, Ensembl:ENST00000610261.6, Ensembl:ENSP00000477392.1,
Ensembl:ENSG00000272602.6, GeneID:152687, KEGG:hsa:152687,
MANE-Select:ENST00000610261.6, UCSC:uc032szy.1, AGR:HGNC:27196,
CTD:152687, DisGeNET:152687, GeneCards:ZNF595, HGNC:27196,
HPA:ENSG00000272602, neXtProt:NX_Q8IYB9,
OpenTargets:ENSG00000272602, VEuPathDB:HostDB:ENSG00000272602,
eggNOG:KOG1721, GeneTree:ENSGT00940000161765, InParanoid:Q8IYB9,
OMA:CEKVISW, OrthoDB:5398495at2759, PhylomeDB:Q8IYB9,
PathwayCommons:Q8IYB9, Reactome:R-HSA-212436, SignaLink:Q8IYB9,
BioGRID-ORCS:152687, ChiTaRS:ZNF595, GenomeRNAi:152687,
Pharos:Q8IYB9, PRO:PR:Q8IYB9, Proteomes:UP000005640, RNAct:Q8IYB9,
Bgee:ENSG00000272602, ExpressionAtlas:Q8IYB9, GO:0005634,
GO:0000981, GO:0046872, GO:0000978, GO:0006357, CDD:cd07765,
FunFam:3.30.160.60:FF:000688, FunFam:3.30.160.60:FF:001702,
FunFam:3.30.160.60:FF:000034, FunFam:3.30.160.60:FF:001868,
FunFam:3.30.160.60:FF:002259, FunFam:3.30.160.60:FF:002254,
FunFam:3.30.160.60:FF:000737, FunFam:3.30.160.60:FF:000015,
FunFam:3.30.160.60:FF:000362, FunFam:3.30.160.60:FF:000307,
Gene3D:6.10.140.140, Gene3D:3.30.160.60, InterPro:IPR001909,
InterPro:IPR036051, InterPro:IPR050826, InterPro:IPR036236,
InterPro:IPR013087, PANTHER:PTHR24377, PANTHER:PTHR24377:SF938,
Pfam:PF01352, Pfam:PF00096, SMART:SM00349, SMART:SM00355,
SUPFAM:SSF57667, SUPFAM:SSF109640, PROSITE:PS50805,
PROSITE:PS00028, PROSITE:PS50157
KEYWORDS DNA-binding; Metal-binding; Nucleus; Proteomics identification;
Reference proteome; Repeat; Transcription; Transcription
regulation; Zinc; Zinc-finger.
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 648)
AUTHORS Bechtel,S., Rosenfelder,H., Duda,A., Schmidt,C.P., Ernst,U.,
Wellenreuther,R., Mehrle,A., Schuster,C., Bahr,A., Blocker,H.,
Heubner,D., Hoerlein,A., Michel,G., Wedler,H., Kohrer,K.,
Ottenwalder,B., Poustka,A., Wiemann,S. and Schupp,I.
TITLE The full-ORF clone resource of the German cDNA Consortium
JOURNAL BMC Genomics 8, 399 (2007)
PUBMED 17974005
REMARK NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].;
TISSUE=Bone marrow {ECO:0000312|EMBL:CAD97883.1}
Publication Status: Online-Only
REFERENCE 2 (residues 1 to 648)
AUTHORS Hillier,L.W., Graves,T.A., Fulton,R.S., Fulton,L.A., Pepin,K.H.,
Minx,P., Wagner-McPherson,C., Layman,D., Wylie,K., Sekhon,M.,
Becker,M.C., Fewell,G.A., Delehaunty,K.D., Miner,T.L., Nash,W.E.,
Kremitzki,C., Oddy,L., Du,H., Sun,H., Bradshaw-Cordum,H., Ali,J.,
Carter,J., Cordes,M., Harris,A., Isak,A., van Brunt,A., Nguyen,C.,
Du,F., Courtney,L., Kalicki,J., Ozersky,P., Abbott,S.,
Armstrong,J., Belter,E.A., Caruso,L., Cedroni,M., Cotton,M.,
Davidson,T., Desai,A., Elliott,G., Erb,T., Fronick,C., Gaige,T.,
Haakenson,W., Haglund,K., Holmes,A., Harkins,R., Kim,K.,
Kruchowski,S.S., Strong,C.M., Grewal,N., Goyea,E., Hou,S., Levy,A.,
Martinka,S., Mead,K., McLellan,M.D., Meyer,R., Randall-Maher,J.,
Tomlinson,C., Dauphin-Kohlberg,S., Kozlowicz-Reilly,A., Shah,N.,
Swearengen-Shahid,S., Snider,J., Strong,J.T., Thompson,J.,
Yoakum,M., Leonard,S., Pearman,C., Trani,L., Radionenko,M.,
Waligorski,J.E., Wang,C., Rock,S.M., Tin-Wollam,A.M., Maupin,R.,
Latreille,P., Wendl,M.C., Yang,S.P., Pohl,C., Wallis,J.W.,
Spieth,J., Bieri,T.A., Berkowicz,N., Nelson,J.O., Osborne,J.,
Ding,L., Meyer,R., Sabo,A., Shotland,Y., Sinha,P., Wohldmann,P.E.,
Cook,L.L., Hickenbotham,M.T., Eldred,J., Williams,D., Jones,T.A.,
She,X., Ciccarelli,F.D., Izaurralde,E., Taylor,J., Schmutz,J.,
Myers,R.M., Cox,D.R., Huang,X., McPherson,J.D., Mardis,E.R.,
Clifton,S.W., Warren,W.C., Chinwalla,A.T., Eddy,S.R., Marra,M.A.,
Ovcharenko,I., Furey,T.S., Miller,W., Eichler,E.E., Bork,P.,
Suyama,M., Torrents,D., Waterston,R.H. and Wilson,R.K.
TITLE Generation and annotation of the DNA sequences of human chromosomes
2 and 4
JOURNAL Nature 434 (7034), 724-731 (2005)
PUBMED 15815621
REMARK NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
REFERENCE 3 (residues 1 to 648)
AUTHORS Gerhard,D.S., Wagner,L., Feingold,E.A., Shenmen,C.M., Grouse,L.H.,
Schuler,G., Klein,S.L., Old,S., Rasooly,R., Good,P., Guyer,M.,
Peck,A.M., Derge,J.G., Lipman,D., Collins,F.S., Jang,W., Sherry,S.,
Feolo,M., Misquitta,L., Lee,E., Rotmistrovsky,K., Greenhut,S.F.,
Schaefer,C.F., Buetow,K., Bonner,T.I., Haussler,D., Kent,J.,
Kiekhaus,M., Furey,T., Brent,M., Prange,C., Schreiber,K.,
Shapiro,N., Bhat,N.K., Hopkins,R.F., Hsie,F., Driscoll,T.,
Soares,M.B., Casavant,T.L., Scheetz,T.E., Brown-stein,M.J.,
Usdin,T.B., Toshiyuki,S., Carninci,P., Piao,Y., Dudekula,D.B.,
Ko,M.S., Kawakami,K., Suzuki,Y., Sugano,S., Gruber,C.E.,
Smith,M.R., Simmons,B., Moore,T., Waterman,R., Johnson,S.L.,
Ruan,Y., Wei,C.L., Mathavan,S., Gunaratne,P.H., Wu,J., Garcia,A.M.,
Hulyk,S.W., Fuh,E., Yuan,Y., Sneed,A., Kowis,C., Hodgson,A.,
Muzny,D.M., McPherson,J., Gibbs,R.A., Fahey,J., Helton,E.,
Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M.,
Madari,A., Young,A.C., Wetherby,K.D., Granite,S.J., Kwong,P.N.,
Brinkley,C.P., Pearson,R.L., Bouffard,G.G., Blakesly,R.W.,
Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J.,
Myers,R.M., Butterfield,Y.S., Griffith,M., Griffith,O.L.,
Krzywinski,M.I., Liao,N., Morin,R., Palmquist,D., Petrescu,A.S.,
Skalska,U., Smailus,D.E., Stott,J.M., Schnerch,A., Schein,J.E.,
Jones,S.J., Holt,R.A., Baross,A., Marra,M.A., Clifton,S.,
Makowski,K.A., Bosak,S. and Malek,J.
CONSRTM MGC Project Team
TITLE The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC)
JOURNAL Genome Res 14 (10B), 2121-2127 (2004)
PUBMED 15489334
REMARK NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].;
TISSUE=Testis
Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to
Morin, Ryan]]
COMMENT On or before Apr 2, 2018 this sequence version replaced
gi:74762428, Q8IYB9.1.
[FUNCTION] May be involved in transcriptional regulation.
[INTERACTION] Q8IYB9; P60371: KRTAP10-6; NbExp=3;
IntAct=EBI-2682172, EBI-12012928.
[SUBCELLULAR LOCATION] Nucleus {ECO:0000305}.
[SIMILARITY] Belongs to the krueppel C2H2-type zinc-finger protein
family. {ECO:0000305}.
FEATURES Location/Qualifiers
source 1..648
/organism="Homo sapiens"
/db_xref="taxon:9606"
gene 1..648
/gene="ZNF595"
Protein 1..648
/product="Zinc finger protein 595"
/UniProtKB_evidence="Evidence at protein level"
Region 1..648
/region_name="Mature chain"
/note="Zinc finger protein 595. /id=PRO_0000047686."
Region 4..75
/region_name="Domain"
/note="KRAB.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00119."
Region 4..64
/region_name="KRAB"
/note="krueppel associated box; smart00349"
/db_xref="CDD:214630"
Region 145..167
/region_name="Zinc finger region"
/note="C2H2-type 1.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 147..167
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 173..194
/region_name="Zinc finger region"
/note="C2H2-type 2.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 175..194
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Site order(175,178,190,194)
/site_type="other"
/note="Zn binding site [ion binding]"
/db_xref="CDD:275368"
Region 198..599
/region_name="COG5048"
/note="FOG: Zn-finger [General function prediction only]"
/db_xref="CDD:227381"
Region 200..222
/region_name="Zinc finger region"
/note="C2H2-type 3.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 202..222
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Site order(202,205,218,222)
/site_type="other"
/note="Zn binding site [ion binding]"
/db_xref="CDD:275368"
Site order(207,209,211,213..214,217..218,221,235,237,241..242,
245..246,249,263,265,267,269..270,273..274,277)
/site_type="other"
/note="putative nucleic acid binding site [nucleotide
binding]"
/db_xref="CDD:275368"
Region 228..250
/region_name="Zinc finger region"
/note="C2H2-type 4.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 230..250
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 256..278
/region_name="Zinc finger region"
/note="C2H2-type 5.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 258..278
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 284..306
/region_name="Zinc finger region"
/note="C2H2-type 6.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 286..306
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 299
/region_name="Conflict"
/note="L -> M (in Ref. 3; AAH36110/AAH43151)."
Region 312..334
/region_name="Zinc finger region"
/note="C2H2-type 7.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 314..334
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 340..362
/region_name="Zinc finger region"
/note="C2H2-type 8.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 342..362
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Site order(342,345,358,362)
/site_type="other"
/note="Zn binding site [ion binding]"
/db_xref="CDD:275368"
Region 368..390
/region_name="Zinc finger region"
/note="C2H2-type 9.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 370..390
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Site order(370,373,386,390)
/site_type="other"
/note="Zn binding site [ion binding]"
/db_xref="CDD:275368"
Site order(375,377,379,381..382,385..386,389,403,405,409..410,
413..414,417,431,433,435,437..438,441..442,445)
/site_type="other"
/note="putative nucleic acid binding site [nucleotide
binding]"
/db_xref="CDD:275368"
Region 396..418
/region_name="Zinc finger region"
/note="C2H2-type 10.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 397
/region_name="Conflict"
/note="T -> A (in Ref. 3; AAH36110/AAH43151)."
Region 398..418
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 424..446
/region_name="Zinc finger region"
/note="C2H2-type 11.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 426..446
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 452..474
/region_name="Zinc finger region"
/note="C2H2-type 12.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 454..474
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 480..502
/region_name="Zinc finger region"
/note="C2H2-type 13.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 482..502
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 508..530
/region_name="Zinc finger region"
/note="C2H2-type 14.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 510..530
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 536..558
/region_name="Zinc finger region"
/note="C2H2-type 15.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 538..558
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Site order(538,541,554,558)
/site_type="other"
/note="Zn binding site [ion binding]"
/db_xref="CDD:275368"
Region 564..586
/region_name="Zinc finger region"
/note="C2H2-type 16.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 566..586
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Site order(566,569,582,586)
/site_type="other"
/note="Zn binding site [ion binding]"
/db_xref="CDD:275368"
Site order(571,573,575,577..578,581..582,585,599,601,605..606,
609..610,613,627,629,631,633..634,637..638,641)
/site_type="other"
/note="putative nucleic acid binding site [nucleotide
binding]"
/db_xref="CDD:275368"
Region 592..614
/region_name="Zinc finger region"
/note="C2H2-type 17.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 594..614
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 606..631
/region_name="zf-H2C2_2"
/note="Zinc-finger double domain; pfam13465"
/db_xref="CDD:463886"
Region 620..642
/region_name="Zinc finger region"
/note="C2H2-type 18.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00042."
Region 622..642
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 628
/region_name="Variant"
/note="A -> G (in dbSNP:rs2006764). /id=VAR_061958."
ORIGIN
1 melvtfrdva iefspeewkc ldpaqqnlyr dvmlenyrnl vslgfvisnp dlvtcleqik
61 epcnlkihet aakppaicsp fsqdlspvqg iedsfhklil kryekcghen lqlrkgckrv
121 neckvqkgvn ngvyqclstt qskifqcntc vkvfskfsns nkhkirhtge kpfkctecgr
181 sfymshltqh tgihagekpy kcekcgkafn rstslskhkr ihtgekpytc eecgkafrrs
241 tvlnehkkih tgekpykcee cgkaftrstt lnehkkihtg ekpykckecg kafrwstsln
301 ehknihtgek pykckecgka frqsrslneh knihtgekpy tcekcgkafn qsssliihrs
361 ihseqklykc eecgkaftws sslnkhkrih tgekpytcee cgkafyrssh lakhkrihtg
421 ekpytceecg kafnqsstli lhkrihsgqk pykceecgka ftrsttlneh kkihtgekpy
481 kceecgkafi wsaslnehkn ihtgekpykc kecgkafnqs sgliihrsih seqklykcee
541 cgkaftrsta lnehkkihsg ekpykckecg kaynlsstlt khkrihtgek pftceecgka
601 fnwsssltkh kiihtgeksy kceecgkafn rpstltvhkr ihtgkehs
//