ZN750_HUMAN
ID ZN750_HUMAN Reviewed; 723 AA.
AC Q32MQ0; Q9H899;
DT 25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 06-DEC-2005, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Zinc finger protein 750;
GN Name=ZNF750;
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].
RC TISSUE=Thyroid;
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 GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [4]
RP INVOLVEMENT IN SLDP, AND TISSUE SPECIFICITY.
RX PubMed=16751772; DOI=10.1038/ng1813;
RA Birnbaum R.Y., Zvulunov A., Hallel-Halevy D., Cagnano E., Finer G.,
RA Ofir R., Geiger D., Silberstein E., Feferman Y., Birk O.S.;
RT "Seborrhea-like dermatitis with psoriasiform elements caused by a mutation
RT in ZNF750, encoding a putative C2H2 zinc finger protein.";
RL Nat. Genet. 38:749-751(2006).
RN [5]
RP FUNCTION, SUBCELLULAR LOCATION, DNA-BINDING, INDUCTION BY TP63, AND
RP MUTAGENESIS OF CYS-27; CYS-30; HIS-39 AND HIS-43.
RX PubMed=22364861; DOI=10.1016/j.devcel.2011.12.001;
RA Sen G.L., Boxer L.D., Webster D.E., Bussat R.T., Qu K., Zarnegar B.J.,
RA Johnston D., Siprashvili Z., Khavari P.A.;
RT "ZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal
RT differentiation.";
RL Dev. Cell 22:669-677(2012).
CC -!- FUNCTION: Transcription factor involved in epidermis differentiation.
CC Required for terminal epidermal differentiation: acts downstream of
CC p63/TP63 and activates expression of late epidermal differentiation
CC genes. Specifically binds to the promoter of KLF4 and promotes its
CC expression. {ECO:0000269|PubMed:22364861}.
CC -!- INTERACTION:
CC Q32MQ0; P56545: CTBP2; NbExp=3; IntAct=EBI-10240029, EBI-741533;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22364861}.
CC -!- TISSUE SPECIFICITY: Expressed in the skin, prostate, lung, placenta and
CC thymus, and at low level in T-cells. Not expressed in peripheral blood
CC leukocytes, pancreas and brain. Clearly expressed in primary
CC keratinocytes but not in fibroblasts. {ECO:0000269|PubMed:16751772}.
CC -!- INDUCTION: During epidermal differentiation: expression is activated by
CC p63/TP63. {ECO:0000269|PubMed:22364861}.
CC -!- DISEASE: Seborrhea-like dermatitis with psoriasiform elements (SLDP)
CC [MIM:610227]: Characterized by a chronic fine diffuse scaly
CC erythematous rash on the face, particularly on the chin, nasolabial
CC folds and eyebrows, around earlobes and over the scalp. The rash
CC exacerbate in the winter, with emotional stress and after strenuous
CC physical activity. Hyperkeratosis of skin over the elbows, knees,
CC palms, soles and metacarpophalangeal joints is evident. There is no
CC arthralgia, arthritis or neurological disorders.
CC {ECO:0000269|PubMed:16751772}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; AK023903; BAB14718.1; -; mRNA.
DR EMBL; AC068584; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC109036; AAI09037.1; -; mRNA.
DR EMBL; BC109037; AAI09038.1; -; mRNA.
DR CCDS; CCDS11819.1; -.
DR RefSeq; NP_078978.2; NM_024702.2.
DR AlphaFoldDB; Q32MQ0; -.
DR SMR; Q32MQ0; -.
DR BioGRID; 122866; 1.
DR IntAct; Q32MQ0; 1.
DR STRING; 9606.ENSP00000269394; -.
DR iPTMnet; Q32MQ0; -.
DR PhosphoSitePlus; Q32MQ0; -.
DR BioMuta; ZNF750; -.
DR DMDM; 110825759; -.
DR jPOST; Q32MQ0; -.
DR MassIVE; Q32MQ0; -.
DR PaxDb; Q32MQ0; -.
DR PeptideAtlas; Q32MQ0; -.
DR PRIDE; Q32MQ0; -.
DR ProteomicsDB; 61608; -.
DR Antibodypedia; 19924; 118 antibodies from 27 providers.
DR DNASU; 79755; -.
DR Ensembl; ENST00000269394.4; ENSP00000269394.3; ENSG00000141579.7.
DR GeneID; 79755; -.
DR KEGG; hsa:79755; -.
DR MANE-Select; ENST00000269394.4; ENSP00000269394.3; NM_024702.3; NP_078978.2.
DR UCSC; uc002kga.4; human.
DR CTD; 79755; -.
DR DisGeNET; 79755; -.
DR GeneCards; ZNF750; -.
DR HGNC; HGNC:25843; ZNF750.
DR HPA; ENSG00000141579; Tissue enhanced (esophagus, skin, vagina).
DR MalaCards; ZNF750; -.
DR MIM; 610226; gene.
DR MIM; 610227; phenotype.
DR neXtProt; NX_Q32MQ0; -.
DR OpenTargets; ENSG00000141579; -.
DR Orphanet; 168606; Seborrhea-like dermatitis with psoriasiform elements.
DR PharmGKB; PA145149939; -.
DR VEuPathDB; HostDB:ENSG00000141579; -.
DR eggNOG; ENOG502QU7X; Eukaryota.
DR GeneTree; ENSGT00530000063870; -.
DR HOGENOM; CLU_023455_0_0_1; -.
DR InParanoid; Q32MQ0; -.
DR OMA; FFQQYPS; -.
DR OrthoDB; 79003at2759; -.
DR PhylomeDB; Q32MQ0; -.
DR TreeFam; TF331381; -.
DR PathwayCommons; Q32MQ0; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q32MQ0; -.
DR BioGRID-ORCS; 79755; 11 hits in 1064 CRISPR screens.
DR ChiTaRS; ZNF750; human.
DR GenomeRNAi; 79755; -.
DR Pharos; Q32MQ0; Tbio.
DR PRO; PR:Q32MQ0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q32MQ0; protein.
DR Bgee; ENSG00000141579; Expressed in oral cavity and 129 other tissues.
DR ExpressionAtlas; Q32MQ0; baseline and differential.
DR Genevisible; Q32MQ0; HS.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:UniProtKB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:ARUK-UCL.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:1990841; F:promoter-specific chromatin binding; IDA:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0008544; P:epidermis development; IMP:UniProtKB.
DR GO; GO:0010719; P:negative regulation of epithelial to mesenchymal transition; IMP:ARUK-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:ARUK-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR InterPro; IPR039363; ZNF750.
DR InterPro; IPR039064; ZNF750_Znf.
DR PANTHER; PTHR14678; PTHR14678; 1.
DR Pfam; PF15269; zf-C2H2_7; 1.
PE 1: Evidence at protein level;
KW Activator; Differentiation; Metal-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..723
FT /note="Zinc finger protein 750"
FT /id="PRO_0000247070"
FT ZN_FING 25..46
FT /note="C2H2-type; degenerate"
FT REGION 64..91
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 132..153
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 359..427
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 466..630
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 650..723
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 69..91
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 369..393
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 411..427
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 466..480
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 496..559
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 235
FT /note="M -> V (in dbSNP:rs8074277)"
FT /id="VAR_027062"
FT VARIANT 288
FT /note="P -> L (in dbSNP:rs35653278)"
FT /id="VAR_051502"
FT VARIANT 392
FT /note="Q -> R (in dbSNP:rs34687659)"
FT /id="VAR_051503"
FT MUTAGEN 27
FT /note="C->A: Abolishes the ability to induce epidermal
FT terminal differentiation; when associated with A-30."
FT /evidence="ECO:0000269|PubMed:22364861"
FT MUTAGEN 30
FT /note="C->A: Abolishes the ability to induce epidermal
FT terminal differentiation; when associated with A-27."
FT /evidence="ECO:0000269|PubMed:22364861"
FT MUTAGEN 39
FT /note="H->A: Abolishes the ability to induce epidermal
FT terminal differentiation; when associated with A-43."
FT /evidence="ECO:0000269|PubMed:22364861"
FT MUTAGEN 43
FT /note="H->A: Abolishes the ability to induce epidermal
FT terminal differentiation; when associated with A-39."
FT /evidence="ECO:0000269|PubMed:22364861"
FT CONFLICT 178
FT /note="A -> P (in Ref. 1; BAB14718)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 723 AA; 77361 MW; 890E7DB46DD0F5FF CRC64;
MSLLKERKPK KPHYIPRPPG KPFKYKCFQC PFTCNEKSHL FNHMKYGLCK NSITLVSEQD
RVPKCPKSNS LDPKQTNQPD ATAKPASSKS VANGLSAFDS KLQHSSARED IKENLELQAR
GTHRCLGQKP ALHRASPCKS PAPEAALGAQ PALEGAARPS AFVPVGEHRL KGPDNAEAPE
TLALHNPTAK AVSFHTKSAF HTPGYPWKAG SPFLPPEFPH KISSTKGLGA ISPYMHPTIP
EYPPHFYTEH GLATIYSPYL LAGSSPECDA PLLSVYGTQD PRHFLPHPGP IPKHLAPSPA
TYDHYRFFQQ YPSNLPIPYG FYRPESAFSS YGLRLPPVTG LTRDQSSHLL EEATLVYPAS
SPSRLNPSDP NRKHVEFESP IPEAKDSSKA GQRDTEGSKM SPRAGSAATG SPGRPSPTDF
MQTSQTCEGL YDLSNKAASS ALGRLYPPEQ SLTAFRPVKK STECLPAQAA ETTAESPVSL
NVVNGDPPAP TGSASLVSEA APSSPDDSSG MGPLNLSKKS EINLAATHEP TYQGSPQAET
ASFSELQDLP LNLSVKDPCN TQAPRPAFPG RPRAAEPAAA VPQKTGTEGS EDGPSHPETK
PGSLDGDGAP PTGPGEEAPD ACAVDSSEEQ KQTAAVALCQ LAAYSPRNIR VGDGDAAAPE
PACRQDTPTL SSMESQEAQC DLRPKGQKRT SLRDAGKSQQ GAKKAKLQDT ARVFTLRRRA
RVS
