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Q32MQ0

- ZN750_HUMAN

UniProt

Q32MQ0 - ZN750_HUMAN

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Protein
Zinc finger protein 750
Gene
ZNF750
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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; degenerate
Add
BLAST

GO - Molecular functioni

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

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 750
PRO_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.

Family & Domainsi

Sequence similaritiesi

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

« Hide

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti178 – 1781A → P in BAB14718. 1 Publication

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...

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 74 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

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