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Q32MQ0

- ZN750_HUMAN

UniProt

Q32MQ0 - ZN750_HUMAN

Protein

Zinc finger protein 750

Gene

ZNF750

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 75 (01 Oct 2014)
      Sequence version 1 (06 Dec 2005)
      Previous versions | rss
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    Functioni

    Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri25 – 4622C2H2-type; degenerateAdd
    BLAST

    GO - Molecular functioni

    1. core promoter sequence-specific DNA binding Source: UniProtKB
    2. metal ion binding Source: UniProtKB-KW
    3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. epidermis development Source: UniProtKB
    3. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Differentiation, Transcription, Transcription regulation

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_12627. Generic Transcription Pathway.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger protein 750
    Gene namesi
    Name:ZNF750
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:25843. ZNF750.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Seborrhea-like dermatitis with psoriasiform elements (SLDP) [MIM:610227]: Characterized by a chronic fine diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial folds and eyebrows, around earlobes and over the scalp. The rash exacerbate in the winter, with emotional stress and after strenuous physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles and metacarpophalangeal joints is evident. There is no arthralgia, arthritis or neurological disorders.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi27 – 271C → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-30. 1 Publication
    Mutagenesisi30 – 301C → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-27. 1 Publication
    Mutagenesisi39 – 391H → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-43. 1 Publication
    Mutagenesisi43 – 431H → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-39. 1 Publication

    Organism-specific databases

    MIMi610227. phenotype.
    Orphaneti168606. Seborrhea-like dermatitis with psoriasiform elements.
    PharmGKBiPA145149939.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 723723Zinc finger protein 750PRO_0000247070Add
    BLAST

    Proteomic databases

    PaxDbiQ32MQ0.
    PRIDEiQ32MQ0.

    PTM databases

    PhosphoSiteiQ32MQ0.

    Expressioni

    Tissue specificityi

    Expressed in the skin, prostate, lung, placenta and thymus, and at low level in T-cells. Not expressed in peripheral blood leukocytes, pancreas and brain. Clearly expressed in primary keratinocytes but not in fibroblasts.1 Publication

    Inductioni

    During epidermal differentiation: expression is activated by p63/TP63.1 Publication

    Gene expression databases

    ArrayExpressiQ32MQ0.
    BgeeiQ32MQ0.
    CleanExiHS_ZNF750.
    GenevestigatoriQ32MQ0.

    Organism-specific databases

    HPAiHPA021573.
    HPA023012.

    Interactioni

    Protein-protein interaction databases

    BioGridi122866. 1 interaction.
    STRINGi9606.ENSP00000269394.

    Structurei

    3D structure databases

    ProteinModelPortaliQ32MQ0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Contains 1 C2H2-type zinc finger.Curated

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri25 – 4622C2H2-type; degenerateAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG28387.
    HOGENOMiHOG000049178.
    HOVERGENiHBG080198.
    InParanoidiQ32MQ0.
    OMAiHYRFFQQ.
    OrthoDBiEOG7G1V5J.
    PhylomeDBiQ32MQ0.
    TreeFamiTF331381.

    Family and domain databases

    InterProiIPR015880. Znf_C2H2-like.
    [Graphical view]
    SMARTiSM00355. ZnF_C2H2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q32MQ0-1 [UniParc]FASTAAdd to Basket

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    MSLLKERKPK KPHYIPRPPG KPFKYKCFQC PFTCNEKSHL FNHMKYGLCK    50
    NSITLVSEQD RVPKCPKSNS LDPKQTNQPD ATAKPASSKS VANGLSAFDS 100
    KLQHSSARED IKENLELQAR GTHRCLGQKP ALHRASPCKS PAPEAALGAQ 150
    PALEGAARPS AFVPVGEHRL KGPDNAEAPE TLALHNPTAK AVSFHTKSAF 200
    HTPGYPWKAG SPFLPPEFPH KISSTKGLGA ISPYMHPTIP EYPPHFYTEH 250
    GLATIYSPYL LAGSSPECDA PLLSVYGTQD PRHFLPHPGP IPKHLAPSPA 300
    TYDHYRFFQQ YPSNLPIPYG FYRPESAFSS YGLRLPPVTG LTRDQSSHLL 350
    EEATLVYPAS SPSRLNPSDP NRKHVEFESP IPEAKDSSKA GQRDTEGSKM 400
    SPRAGSAATG SPGRPSPTDF MQTSQTCEGL YDLSNKAASS ALGRLYPPEQ 450
    SLTAFRPVKK STECLPAQAA ETTAESPVSL NVVNGDPPAP TGSASLVSEA 500
    APSSPDDSSG MGPLNLSKKS EINLAATHEP TYQGSPQAET ASFSELQDLP 550
    LNLSVKDPCN TQAPRPAFPG RPRAAEPAAA VPQKTGTEGS EDGPSHPETK 600
    PGSLDGDGAP PTGPGEEAPD ACAVDSSEEQ KQTAAVALCQ LAAYSPRNIR 650
    VGDGDAAAPE PACRQDTPTL SSMESQEAQC DLRPKGQKRT SLRDAGKSQQ 700
    GAKKAKLQDT ARVFTLRRRA RVS 723
    Length:723
    Mass (Da):77,361
    Last modified:December 6, 2005 - v1
    Checksum:i890E7DB46DD0F5FF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti178 – 1781A → P in BAB14718. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti235 – 2351M → V.
    Corresponds to variant rs8074277 [ dbSNP | Ensembl ].
    VAR_027062
    Natural varianti288 – 2881P → L.
    Corresponds to variant rs35653278 [ dbSNP | Ensembl ].
    VAR_051502
    Natural varianti392 – 3921Q → R.
    Corresponds to variant rs34687659 [ dbSNP | Ensembl ].
    VAR_051503

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK023903 mRNA. Translation: BAB14718.1.
    AC068584 Genomic DNA. No translation available.
    BC109036 mRNA. Translation: AAI09037.1.
    BC109037 mRNA. Translation: AAI09038.1.
    CCDSiCCDS11819.1.
    RefSeqiNP_078978.2. NM_024702.2.
    UniGeneiHs.464391.
    Hs.653124.

    Genome annotation databases

    EnsembliENST00000269394; ENSP00000269394; ENSG00000141579.
    GeneIDi79755.
    KEGGihsa:79755.
    UCSCiuc002kga.3. human.

    Polymorphism databases

    DMDMi110825759.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK023903 mRNA. Translation: BAB14718.1 .
    AC068584 Genomic DNA. No translation available.
    BC109036 mRNA. Translation: AAI09037.1 .
    BC109037 mRNA. Translation: AAI09038.1 .
    CCDSi CCDS11819.1.
    RefSeqi NP_078978.2. NM_024702.2.
    UniGenei Hs.464391.
    Hs.653124.

    3D structure databases

    ProteinModelPortali Q32MQ0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122866. 1 interaction.
    STRINGi 9606.ENSP00000269394.

    PTM databases

    PhosphoSitei Q32MQ0.

    Polymorphism databases

    DMDMi 110825759.

    Proteomic databases

    PaxDbi Q32MQ0.
    PRIDEi Q32MQ0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000269394 ; ENSP00000269394 ; ENSG00000141579 .
    GeneIDi 79755.
    KEGGi hsa:79755.
    UCSCi uc002kga.3. human.

    Organism-specific databases

    CTDi 79755.
    GeneCardsi GC17M080787.
    HGNCi HGNC:25843. ZNF750.
    HPAi HPA021573.
    HPA023012.
    MIMi 610226. gene.
    610227. phenotype.
    neXtProti NX_Q32MQ0.
    Orphaneti 168606. Seborrhea-like dermatitis with psoriasiform elements.
    PharmGKBi PA145149939.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG28387.
    HOGENOMi HOG000049178.
    HOVERGENi HBG080198.
    InParanoidi Q32MQ0.
    OMAi HYRFFQQ.
    OrthoDBi EOG7G1V5J.
    PhylomeDBi Q32MQ0.
    TreeFami TF331381.

    Enzyme and pathway databases

    Reactomei REACT_12627. Generic Transcription Pathway.

    Miscellaneous databases

    GenomeRNAii 79755.
    NextBioi 69211.
    PROi Q32MQ0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q32MQ0.
    Bgeei Q32MQ0.
    CleanExi HS_ZNF750.
    Genevestigatori Q32MQ0.

    Family and domain databases

    InterProi IPR015880. Znf_C2H2-like.
    [Graphical view ]
    SMARTi SM00355. ZnF_C2H2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Thyroid.
    2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein."
      Birnbaum R.Y., Zvulunov A., Hallel-Halevy D., Cagnano E., Finer G., Ofir R., Geiger D., Silberstein E., Feferman Y., Birk O.S.
      Nat. Genet. 38:749-751(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SLDP, TISSUE SPECIFICITY.
    5. "ZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal differentiation."
      Sen G.L., Boxer L.D., Webster D.E., Bussat R.T., Qu K., Zarnegar B.J., Johnston D., Siprashvili Z., Khavari P.A.
      Dev. Cell 22:669-677(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, DNA-BINDING, INDUCTION BY TP63, MUTAGENESIS OF CYS-27; CYS-30; HIS-39 AND HIS-43.

    Entry informationi

    Entry nameiZN750_HUMAN
    AccessioniPrimary (citable) accession number: Q32MQ0
    Secondary accession number(s): Q9H899
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 25, 2006
    Last sequence update: December 6, 2005
    Last modified: October 1, 2014
    This is version 75 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3