ZNF44_HUMAN
ID ZNF44_HUMAN Reviewed; 663 AA.
AC P15621; B4DML9; B9EGJ5; B9ZVM2; P17018; Q9ULZ7;
DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 200.
DE RecName: Full=Zinc finger protein 44;
DE AltName: Full=Gonadotropin-inducible ovary transcription repressor 2;
DE Short=GIOT-2;
DE AltName: Full=Zinc finger protein 55;
DE AltName: Full=Zinc finger protein 58;
DE AltName: Full=Zinc finger protein KOX7;
GN Name=ZNF44; Synonyms=GIOT2, KOX7, ZNF55, ZNF58;
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 [MRNA] (ISOFORM 2), AND VARIANT ALA-212.
RC TISSUE=Ovary;
RA Okada T., Mizutani T., Miyamoto K.;
RT "Identification and characterization of novel zinc finger proteins in the
RT human ovary.";
RL Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [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] (ISOFORM 3).
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 403-663 (ISOFORM 1).
RA Ammendola S., Ciliberto G.;
RL Submitted (AUG-1989) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 413-468.
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=P15621-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P15621-2; Sequence=VSP_035757, VSP_035758, VSP_035759;
CC Name=3;
CC IsoId=P15621-3; Sequence=VSP_035759;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAA34357.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB021642; BAA86988.1; -; mRNA.
DR EMBL; AK297528; BAG59931.1; -; mRNA.
DR EMBL; AC012618; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC136502; AAI36503.1; -; mRNA.
DR EMBL; X16281; CAA34357.1; ALT_FRAME; mRNA.
DR EMBL; X52338; CAA36564.1; -; mRNA.
DR CCDS; CCDS54223.1; -. [P15621-1]
DR PIR; D56409; S06779.
DR RefSeq; NP_001157748.1; NM_001164276.1. [P15621-1]
DR AlphaFoldDB; P15621; -.
DR SMR; P15621; -.
DR BioGRID; 119691; 20.
DR IntAct; P15621; 2.
DR STRING; 9606.ENSP00000348419; -.
DR iPTMnet; P15621; -.
DR PhosphoSitePlus; P15621; -.
DR BioMuta; ZNF44; -.
DR DMDM; 215274197; -.
DR jPOST; P15621; -.
DR MassIVE; P15621; -.
DR MaxQB; P15621; -.
DR PaxDb; P15621; -.
DR PeptideAtlas; P15621; -.
DR PRIDE; P15621; -.
DR ProteomicsDB; 53190; -. [P15621-1]
DR ProteomicsDB; 53191; -. [P15621-2]
DR ProteomicsDB; 53192; -. [P15621-3]
DR Antibodypedia; 835; 106 antibodies from 18 providers.
DR DNASU; 51710; -.
DR Ensembl; ENST00000356109.10; ENSP00000348419.5; ENSG00000197857.15. [P15621-1]
DR Ensembl; ENST00000393337.7; ENSP00000377008.3; ENSG00000197857.15. [P15621-3]
DR Ensembl; ENST00000397742.7; ENSP00000380850.3; ENSG00000197857.15. [P15621-2]
DR GeneID; 51710; -.
DR KEGG; hsa:51710; -.
DR UCSC; uc010xmj.3; human. [P15621-1]
DR CTD; 51710; -.
DR DisGeNET; 51710; -.
DR GeneCards; ZNF44; -.
DR HGNC; HGNC:13110; ZNF44.
DR HPA; ENSG00000197857; Low tissue specificity.
DR MIM; 194542; gene.
DR neXtProt; NX_P15621; -.
DR OpenTargets; ENSG00000197857; -.
DR PharmGKB; PA37685; -.
DR VEuPathDB; HostDB:ENSG00000197857; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00950000182755; -.
DR HOGENOM; CLU_002678_44_3_1; -.
DR InParanoid; P15621; -.
DR OMA; FCQEHER; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; P15621; -.
DR TreeFam; TF338854; -.
DR PathwayCommons; P15621; -.
DR SignaLink; P15621; -.
DR BioGRID-ORCS; 51710; 14 hits in 1097 CRISPR screens.
DR ChiTaRS; ZNF44; human.
DR GeneWiki; ZNF44; -.
DR GenomeRNAi; 51710; -.
DR Pharos; P15621; Tbio.
DR PRO; PR:P15621; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; P15621; protein.
DR Bgee; ENSG00000197857; Expressed in buccal mucosa cell and 206 other tissues.
DR ExpressionAtlas; P15621; baseline and differential.
DR Genevisible; P15621; 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:0000977; F:RNA polymerase II transcription 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; 9.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 16.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 9.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 14.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 17.
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..663
FT /note="Zinc finger protein 44"
FT /id="PRO_0000047377"
FT DOMAIN 52..138
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 189..211
FT /note="C2H2-type 1; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 217..239
FT /note="C2H2-type 2; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 245..267
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 273..295
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 301..323
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 329..351
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 357..379
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 385..407
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 413..435
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 441..463
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 469..491
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 497..518
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 524..546
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 552..574
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 580..602
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 608..630
FT /note="C2H2-type 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 636..658
FT /note="C2H2-type 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 1..48
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_035757"
FT VAR_SEQ 49
FT /note="Q -> M (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_035758"
FT VAR_SEQ 638..663
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_035759"
FT VARIANT 92
FT /note="G -> A (in dbSNP:rs11882046)"
FT /id="VAR_047425"
FT VARIANT 212
FT /note="T -> A (in dbSNP:rs11879168)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_047426"
FT CONFLICT 389
FT /note="I -> R (in Ref. 1; BAA86988)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 663 AA; 76524 MW; 6B66F4715A972432 CRC64;
MALCYGTFWG YPKMLEAANL MEGLVDIGPW VTLPRGQPEV LEWGLPKDQD SVAFEDVAVN
FTHEEWALLG PSQKNLYRDV MRETIRNLNC IGMKWENQNI DDQHQNLRRN PRCDVVERFG
KSKDGSQCGE TLSQIRNSIV NKNTPARVDA CGSSVNGEVI MGHSSLNCYI RVDTGHKHRE
CHEYAEKSYT HKQCGKGLSY RHSFQTCERP HTGKKPYDCK ECGKTFSSPG NLRRHMVVKG
GDGPYKCELC GKAFFWPSLL RMHERTHTGE KPYECKQCSK AFPVYSSYLR HEKIHTGEKP
YECKQCSKAF PDYSSYLRHE RTHTGEKPYK CKQCGKAFSV SGSLRVHERI HTGEKPYTCK
QCGKAFCHLG SFQRHMIMHS GDGPHKCKIC GKGFDFPGSA RIHEGTHTLE KPYECKQCGK
LLSHRSSFRR HMMAHTGDGP HKCTVCGKAF DSPSVFQRHE RTHTGEKPYE CKQCGKAFRT
SSSLRKHETT HTGEQPYKCK CGKAFSDLFS FQSHETTHSE EEPYECKECG KAFSSFKYFC
RHERTHSEEK SYECQICGKA FSRFSYLKTH ERTHTAEKPY ECKQCRKAFF WPSFLLRHER
THTGERPYEC KHCGKAFSRS SFCREHERTH TGEKPYECKE CGKAFSSLSS FNRHKRTHWK
DIL
