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 10-MAY-2017, entry version 95.
DE RecName: Full=Zinc finger protein 750;
GN Name=ZNF750;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; 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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA 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
RT the 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
RT project: 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
RT mutation 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
RT epidermal differentiation.";
RL Dev. Cell 22:669-677(2012).
CC -!- FUNCTION: Transcription factor involved in epidermis
CC differentiation. Required for terminal epidermal differentiation:
CC acts downstream of p63/TP63 and activates expression of late
CC epidermal differentiation genes. Specifically binds to the
CC promoter of KLF4 and promotes its expression.
CC {ECO:0000269|PubMed:22364861}.
CC -!- INTERACTION:
CC 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,
CC placenta and thymus, and at low level in T-cells. Not expressed in
CC peripheral blood leukocytes, pancreas and brain. Clearly expressed
CC in primary keratinocytes but not in fibroblasts.
CC {ECO:0000269|PubMed:16751772}.
CC -!- INDUCTION: During epidermal differentiation: expression is
CC activated by p63/TP63. {ECO:0000269|PubMed:22364861}.
CC -!- DISEASE: Seborrhea-like dermatitis with psoriasiform elements
CC (SLDP) [MIM:610227]: Characterized by a chronic fine diffuse scaly
CC erythematous rash on the face, particularly on the chin,
CC nasolabial folds and eyebrows, around earlobes and over the scalp.
CC The rash exacerbate in the winter, with emotional stress and after
CC strenuous physical activity. Hyperkeratosis of skin over the
CC elbows, knees, palms, soles and metacarpophalangeal joints is
CC evident. There is no arthralgia, arthritis or neurological
CC disorders. {ECO:0000269|PubMed:16751772}. Note=The disease is
CC caused by mutations 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 UniGene; Hs.464391; -.
DR UniGene; Hs.653124; -.
DR ProteinModelPortal; 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 PaxDb; Q32MQ0; -.
DR PeptideAtlas; Q32MQ0; -.
DR PRIDE; Q32MQ0; -.
DR Ensembl; ENST00000269394; ENSP00000269394; ENSG00000141579.
DR GeneID; 79755; -.
DR KEGG; hsa:79755; -.
DR UCSC; uc002kga.4; human.
DR CTD; 79755; -.
DR DisGeNET; 79755; -.
DR GeneCards; ZNF750; -.
DR HGNC; HGNC:25843; ZNF750.
DR HPA; HPA021573; -.
DR HPA; HPA023012; -.
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 eggNOG; ENOG410IF50; Eukaryota.
DR eggNOG; ENOG410ZK89; LUCA.
DR GeneTree; ENSGT00530000063870; -.
DR HOGENOM; HOG000049178; -.
DR HOVERGEN; HBG080198; -.
DR InParanoid; Q32MQ0; -.
DR OMA; HYRFFQQ; -.
DR OrthoDB; EOG091G036R; -.
DR PhylomeDB; Q32MQ0; -.
DR TreeFam; TF331381; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR GenomeRNAi; 79755; -.
DR PRO; PR:Q32MQ0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR Bgee; ENSG00000141579; -.
DR CleanEx; HS_ZNF750; -.
DR ExpressionAtlas; Q32MQ0; baseline and differential.
DR Genevisible; Q32MQ0; HS.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0001046; F:core promoter sequence-specific DNA binding; IDA:UniProtKB.
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:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
PE 1: Evidence at protein level;
KW Activator; Complete proteome; Differentiation; Metal-binding; Nucleus;
KW Polymorphism; Reference proteome; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1 723 Zinc finger protein 750.
FT /FTId=PRO_0000247070.
FT ZN_FING 25 46 C2H2-type; degenerate.
FT VARIANT 235 235 M -> V (in dbSNP:rs8074277).
FT /FTId=VAR_027062.
FT VARIANT 288 288 P -> L (in dbSNP:rs35653278).
FT /FTId=VAR_051502.
FT VARIANT 392 392 Q -> R (in dbSNP:rs34687659).
FT /FTId=VAR_051503.
FT MUTAGEN 27 27 C->A: Abolishes the ability to induce
FT epidermal terminal differentiation; when
FT associated with A-30.
FT {ECO:0000269|PubMed:22364861}.
FT MUTAGEN 30 30 C->A: Abolishes the ability to induce
FT epidermal terminal differentiation; when
FT associated with A-27.
FT {ECO:0000269|PubMed:22364861}.
FT MUTAGEN 39 39 H->A: Abolishes the ability to induce
FT epidermal terminal differentiation; when
FT associated with A-43.
FT {ECO:0000269|PubMed:22364861}.
FT MUTAGEN 43 43 H->A: Abolishes the ability to induce
FT epidermal terminal differentiation; when
FT associated with A-39.
FT {ECO:0000269|PubMed:22364861}.
FT CONFLICT 178 178 A -> P (in Ref. 1; BAB14718).
FT {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
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