ZN615_HUMAN
ID ZN615_HUMAN Reviewed; 731 AA.
AC Q8N8J6; B7ZKW9; Q2M2Y6; Q5CZB0; Q6ZMT7; Q6ZRB3;
DT 23-NOV-2004, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 2.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Zinc finger protein 615;
GN Name=ZNF615;
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 MRNA] (ISOFORMS 1 AND 3), AND VARIANTS
RP MET-129; ILE-360 AND LYS-727.
RC TISSUE=Thymus, and Trachea;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS MET-129;
RP ILE-360 AND LYS-727.
RC TISSUE=Endometrium;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
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).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N8J6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N8J6-2; Sequence=VSP_029582;
CC Name=3;
CC IsoId=Q8N8J6-3; Sequence=VSP_039717, VSP_029582;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-2 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC87399.1; Type=Miscellaneous discrepancy; Note=aberrant splicing.; Evidence={ECO:0000305};
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DR EMBL; AK128361; BAC87399.1; ALT_SEQ; mRNA.
DR EMBL; AK131494; BAD18638.1; -; mRNA.
DR EMBL; CR936612; CAI56755.1; -; mRNA.
DR EMBL; AC011460; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011468; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC105100; AAI05101.1; -; mRNA.
DR EMBL; BC105102; AAI05103.1; -; mRNA.
DR EMBL; BC143429; AAI43430.1; -; mRNA.
DR CCDS; CCDS12846.1; -. [Q8N8J6-1]
DR CCDS; CCDS59418.1; -. [Q8N8J6-2]
DR RefSeq; NP_001186253.1; NM_001199324.1. [Q8N8J6-2]
DR RefSeq; NP_001308247.1; NM_001321318.1. [Q8N8J6-3]
DR RefSeq; NP_001308248.1; NM_001321319.1. [Q8N8J6-2]
DR RefSeq; NP_001308249.1; NM_001321320.1. [Q8N8J6-1]
DR RefSeq; NP_001308250.1; NM_001321321.1. [Q8N8J6-2]
DR RefSeq; NP_940882.3; NM_198480.3. [Q8N8J6-1]
DR RefSeq; XP_011525126.1; XM_011526824.1.
DR RefSeq; XP_011525127.1; XM_011526825.1.
DR RefSeq; XP_011525128.1; XM_011526826.1.
DR RefSeq; XP_016882137.1; XM_017026648.1. [Q8N8J6-1]
DR RefSeq; XP_016882138.1; XM_017026649.1. [Q8N8J6-1]
DR AlphaFoldDB; Q8N8J6; -.
DR SMR; Q8N8J6; -.
DR BioGRID; 129849; 3.
DR IntAct; Q8N8J6; 1.
DR STRING; 9606.ENSP00000471549; -.
DR iPTMnet; Q8N8J6; -.
DR PhosphoSitePlus; Q8N8J6; -.
DR BioMuta; ZNF615; -.
DR DMDM; 161784348; -.
DR jPOST; Q8N8J6; -.
DR MassIVE; Q8N8J6; -.
DR MaxQB; Q8N8J6; -.
DR PaxDb; Q8N8J6; -.
DR PeptideAtlas; Q8N8J6; -.
DR PRIDE; Q8N8J6; -.
DR ProteomicsDB; 72428; -. [Q8N8J6-1]
DR ProteomicsDB; 72429; -. [Q8N8J6-2]
DR ProteomicsDB; 72430; -. [Q8N8J6-3]
DR Antibodypedia; 32547; 11 antibodies from 7 providers.
DR DNASU; 284370; -.
DR Ensembl; ENST00000376716.9; ENSP00000365906.4; ENSG00000197619.15. [Q8N8J6-1]
DR Ensembl; ENST00000594083.5; ENSP00000471549.1; ENSG00000197619.15. [Q8N8J6-2]
DR Ensembl; ENST00000598071.6; ENSP00000471041.1; ENSG00000197619.15. [Q8N8J6-2]
DR Ensembl; ENST00000602063.5; ENSP00000473089.1; ENSG00000197619.15. [Q8N8J6-1]
DR Ensembl; ENST00000618487.4; ENSP00000483676.1; ENSG00000197619.15. [Q8N8J6-2]
DR GeneID; 284370; -.
DR KEGG; hsa:284370; -.
DR MANE-Select; ENST00000598071.6; ENSP00000471041.1; NM_001199324.2; NP_001186253.1. [Q8N8J6-2]
DR UCSC; uc002pye.3; human. [Q8N8J6-1]
DR CTD; 284370; -.
DR DisGeNET; 284370; -.
DR GeneCards; ZNF615; -.
DR HGNC; HGNC:24740; ZNF615.
DR HPA; ENSG00000197619; Low tissue specificity.
DR neXtProt; NX_Q8N8J6; -.
DR OpenTargets; ENSG00000197619; -.
DR PharmGKB; PA134872929; -.
DR VEuPathDB; HostDB:ENSG00000197619; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163298; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; Q8N8J6; -.
DR OMA; CEHNTFA; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q8N8J6; -.
DR TreeFam; TF350804; -.
DR PathwayCommons; Q8N8J6; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q8N8J6; -.
DR BioGRID-ORCS; 284370; 10 hits in 1095 CRISPR screens.
DR GenomeRNAi; 284370; -.
DR Pharos; Q8N8J6; Tdark.
DR PRO; PR:Q8N8J6; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8N8J6; protein.
DR Bgee; ENSG00000197619; Expressed in cardiac muscle of right atrium and 176 other tissues.
DR ExpressionAtlas; Q8N8J6; baseline and differential.
DR Genevisible; Q8N8J6; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator 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; 17.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 19.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 10.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 18.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 19.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..731
FT /note="Zinc finger protein 615"
FT /id="PRO_0000047690"
FT DOMAIN 8..79
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 204..226
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 232..254
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 260..282
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 288..310
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 316..338
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 344..366
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 372..394
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 400..422
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 428..450
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 456..478
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 484..506
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 512..534
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 540..562
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 568..590
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 596..618
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 624..646
FT /note="C2H2-type 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 652..674
FT /note="C2H2-type 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 680..702
FT /note="C2H2-type 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 708..730
FT /note="C2H2-type 19"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 1..5
FT /note="MMQAQ -> M (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039717"
FT VAR_SEQ 79
FT /note="S -> SDSGGASGGAYA (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_029582"
FT VARIANT 129
FT /note="T -> M (in dbSNP:rs10500311)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_037285"
FT VARIANT 360
FT /note="T -> I (in dbSNP:rs1978717)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_037286"
FT VARIANT 727
FT /note="R -> K (in dbSNP:rs16983353)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_037287"
FT CONFLICT 576
FT /note="G -> D (in Ref. 1; BAD18638)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 731 AA; 83739 MW; 4FE44AC660649A85 CRC64;
MMQAQESLTL EDVAVDFTWE EWQFLSPAQK DLYRDVMLEN YSNLVAVGYQ ASKPDALSKL
ERGEETCTTE DEIYSRICSE IRKIDDPLQH HLQNQSIQKS VKQCHEQNMF GNIVNQNKGH
FLLKQDCDTF DLHEKPLKSN LSFENQKRSS GLKNSAEFNR DGKSLFHANH KQFYTEMKFP
AIAKPINKSQ FIKQQRTHNI ENAHVCSECG KAFLKLSQFI DHQRVHTGEK PHVCSMCGKA
FSRKSRLMDH QRTHTELKHY ECTECDKTFL KKSQLNIHQK THMGGKPYTC SQCGKAFIKK
CRLIYHQRTH TGEKPHGCSV CGKAFSTKFS LTTHQKTHTG EKPYICSECG KGFIEKRRLT
AHHRTHTGEK PFICNKCGKG FTLKNSLITH QQTHTGEKLY TCSECGKGFS MKHCLMVHQR
THTGEKPYKC NECGKGFALK SPLIRHQRTH TGEKPYVCTE CRKGFTMKSD LIVHQRTHTA
EKPYICNDCG KGFTVKSRLI VHQRTHTGEK PYVCGECGKG FPAKIRLMGH QRTHTGEKPY
ICNECGKGFT EKSHLNVHRR THTGEKPYVC SECGKGLTGK SMLIAHQRTH TGEKPYICNE
CGKGFTMKST LSIHQQTHTG EKPYKCNECD KTFRKKTCLI QHQRFHTGKT SFACTECGKF
SLRKNDLITH QRIHTGEKPY KCSDCGKAFT TKSGLNVHQR KHTGERPYGC SDCGKAFAHL
SILVKHRRIH R