ZNF30_HUMAN
ID ZNF30_HUMAN Reviewed; 623 AA.
AC P17039; A5PLP1; A8K320; B4DIC0; Q6N068;
DT 01-AUG-1990, integrated into UniProtKB/Swiss-Prot.
DT 03-MAY-2011, sequence version 5.
DT 03-AUG-2022, entry version 199.
DE RecName: Full=Zinc finger protein 30;
DE AltName: Full=Zinc finger protein KOX28;
GN Name=ZNF30; Synonyms=KOX28;
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 2 AND 3), AND VARIANTS
RP ARG-123; LYS-379 AND CYS-400.
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 3), AND VARIANTS ARG-123
RP AND LYS-379.
RC TISSUE=Uterine endothelium;
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], AND VARIANT ARG-123.
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] (ISOFORM 1).
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 [MRNA] OF 484-623.
RC TISSUE=Lymphoid tissue;
RX PubMed=2288909;
RA Thiesen H.-J.;
RT "Multiple genes encoding zinc finger domains are expressed in human T
RT cells.";
RL New Biol. 2:363-374(1990).
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=P17039-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P17039-2; Sequence=VSP_040942;
CC Name=3;
CC IsoId=P17039-3; Sequence=VSP_040943, VSP_040944;
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AK295515; BAG58432.1; -; mRNA.
DR EMBL; AK290435; BAF83124.1; -; mRNA.
DR EMBL; BX640666; CAE45802.1; -; mRNA.
DR EMBL; AC008555; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC142996; AAI42997.1; -; mRNA.
DR EMBL; X52359; CAA36585.1; -; mRNA.
DR CCDS; CCDS46044.1; -. [P17039-2]
DR CCDS; CCDS46045.1; -. [P17039-1]
DR PIR; I37968; I37968.
DR RefSeq; NP_001092907.1; NM_001099437.1. [P17039-2]
DR RefSeq; NP_001092908.1; NM_001099438.1. [P17039-2]
DR RefSeq; NP_919306.2; NM_194325.2. [P17039-1]
DR RefSeq; XP_011525745.1; XM_011527443.2. [P17039-2]
DR RefSeq; XP_011525746.1; XM_011527444.1. [P17039-2]
DR RefSeq; XP_016882912.1; XM_017027423.1. [P17039-2]
DR RefSeq; XP_016882913.1; XM_017027424.1. [P17039-2]
DR RefSeq; XP_016882914.1; XM_017027425.1. [P17039-1]
DR RefSeq; XP_016882915.1; XM_017027426.1. [P17039-1]
DR RefSeq; XP_016882916.1; XM_017027427.1.
DR RefSeq; XP_016882917.1; XM_017027428.1.
DR RefSeq; XP_016882918.1; XM_017027429.1.
DR AlphaFoldDB; P17039; -.
DR SMR; P17039; -.
DR BioGRID; 124660; 39.
DR IntAct; P17039; 2.
DR STRING; 9606.ENSP00000403441; -.
DR iPTMnet; P17039; -.
DR PhosphoSitePlus; P17039; -.
DR BioMuta; ZNF30; -.
DR DMDM; 332278252; -.
DR EPD; P17039; -.
DR jPOST; P17039; -.
DR MassIVE; P17039; -.
DR MaxQB; P17039; -.
DR PaxDb; P17039; -.
DR PeptideAtlas; P17039; -.
DR PRIDE; P17039; -.
DR ProteomicsDB; 53442; -. [P17039-1]
DR ProteomicsDB; 53443; -. [P17039-2]
DR ProteomicsDB; 53444; -. [P17039-3]
DR Antibodypedia; 29216; 78 antibodies from 17 providers.
DR DNASU; 90075; -.
DR Ensembl; ENST00000303586.11; ENSP00000303889.7; ENSG00000168661.15. [P17039-2]
DR Ensembl; ENST00000439785.5; ENSP00000403441.1; ENSG00000168661.15. [P17039-2]
DR Ensembl; ENST00000601142.2; ENSP00000469954.1; ENSG00000168661.15. [P17039-1]
DR Ensembl; ENST00000601957.5; ENSP00000470094.1; ENSG00000168661.15. [P17039-3]
DR GeneID; 90075; -.
DR KEGG; hsa:90075; -.
DR MANE-Select; ENST00000601142.2; ENSP00000469954.1; NM_194325.3; NP_919306.2.
DR UCSC; uc010edp.2; human. [P17039-1]
DR CTD; 90075; -.
DR GeneCards; ZNF30; -.
DR HGNC; HGNC:13090; ZNF30.
DR HPA; ENSG00000168661; Tissue enhanced (retina).
DR neXtProt; NX_P17039; -.
DR OpenTargets; ENSG00000168661; -.
DR PharmGKB; PA37665; -.
DR VEuPathDB; HostDB:ENSG00000168661; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000164353; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; P17039; -.
DR OMA; KAFIVYG; -.
DR OrthoDB; 1318335at2759; -.
DR TreeFam; TF341817; -.
DR PathwayCommons; P17039; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; P17039; -.
DR BioGRID-ORCS; 90075; 10 hits in 1095 CRISPR screens.
DR ChiTaRS; ZNF30; human.
DR GenomeRNAi; 90075; -.
DR Pharos; P17039; Tdark.
DR PRO; PR:P17039; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; P17039; protein.
DR Bgee; ENSG00000168661; Expressed in secondary oocyte and 156 other tissues.
DR ExpressionAtlas; P17039; baseline and differential.
DR Genevisible; P17039; 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; 14.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 17.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 10.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 16.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 18.
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..623
FT /note="Zinc finger protein 30"
FT /id="PRO_0000047359"
FT DOMAIN 14..85
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 120..142
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 148..170
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 176..198
FT /note="C2H2-type 3; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 204..226
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 232..254
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 260..282
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 288..310
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 316..338
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 344..366
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 372..394
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 400..422
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 428..450
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 456..478
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 484..506
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 512..534
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 540..562
FT /note="C2H2-type 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 568..590
FT /note="C2H2-type 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 596..618
FT /note="C2H2-type 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 53
FT /note="M -> MA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040942"
FT VAR_SEQ 86
FT /note="D -> G (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_040943"
FT VAR_SEQ 87..623
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_040944"
FT VARIANT 123
FT /note="Q -> R (in dbSNP:rs1811)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15057824, ECO:0000269|PubMed:17974005"
FT /id="VAR_047736"
FT VARIANT 190
FT /note="A -> T (in dbSNP:rs8100497)"
FT /id="VAR_047737"
FT VARIANT 379
FT /note="R -> K (in dbSNP:rs1345658)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_047738"
FT VARIANT 400
FT /note="Y -> C (in dbSNP:rs765746)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_047739"
FT CONFLICT 14
FT /note="V -> M (in Ref. 1; BAG58432)"
FT /evidence="ECO:0000305"
FT CONFLICT 24
FT /note="S -> F (in Ref. 1; BAG58432)"
FT /evidence="ECO:0000305"
FT CONFLICT 193
FT /note="K -> R (in Ref. 2; CAE45802)"
FT /evidence="ECO:0000305"
FT CONFLICT 238
FT /note="G -> W (in Ref. 2; CAE45802)"
FT /evidence="ECO:0000305"
FT CONFLICT 304
FT /note="A -> V (in Ref. 2; CAE45802)"
FT /evidence="ECO:0000305"
FT CONFLICT 492
FT /note="T -> A (in Ref. 4; AAI42997)"
FT /evidence="ECO:0000305"
FT CONFLICT 493
FT /note="F -> L (in Ref. 2; CAE45802)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 623 AA; 71417 MW; 50F63EFB2027C717 CRC64;
MAHKYVGLQY HGSVTFEDVA IAFSQQEWES LDSSQRGLYR DVMLENYRNL VSMGHSRSKP
HVIALLEQWK EPEVTVRKDG RRWCTDLQLE DDTIGCKEMP TSENCPSFAL HQKISRQKPR
ECQEYGKTLC QDSKPVQHER IHSSEKPNRC KECGKNFSNG HQLTIHQRLH VGEKPYKYEK
CGKAFISGSA FVKHGRIHTG EKPLKCKQCG KTISGSYQLT VHKSIHTGKK PYECGECGKA
FLVYGKLTRH QSTHTGEKPF GCEECGKAFS TFSYLVQHQR IHTSEKPYEC KECGKAFSTS
SPLAKHQRIH TGEKPYECKE CGKSFTVYGQ LTRHQSIHTG EKPFECKECG KAFRLSSFLH
AHQRIHAEIK PYGCKECGRT FSRASYLVQH GRLHTGEKPY ECKECGKAFS TGSYLVQHQR
IHTGEKPYEC KECGKAFISR HQLTVHQRVH TGEKPYECKE CGKAFRVHVH LTQHRKIHTD
VKPYECKECG KTFSRASYLV QHSRIHTGKK PYECKECGKA FSSGSYLVQH QRIHTGEKPY
ECNKCGKAFT VYGQLIGHQS VHTGEKPFEC KECGKAFRLN SFLTEHQRVH TGEKPFKCKK
CGKTFRYSSA LKVHLRKHMS VIP
