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Protein

Zinc finger protein 750

Gene

ZNF750

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Zinc fingeri25 – 46C2H2-type; degenerateAdd BLAST22

GO - Molecular functioni

  • core promoter sequence-specific DNA binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • promoter-specific chromatin binding Source: UniProtKB
  • transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • epidermis development Source: UniProtKB
  • positive regulation of transcription by RNA polymerase II Source: UniProtKB

Keywordsi

Molecular functionActivator
Biological processDifferentiation, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-212436 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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000141579.6
HGNCiHGNC:25843 ZNF750
MIMi610226 gene
neXtProtiNX_Q32MQ0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Seborrhea-like dermatitis with psoriasiform elements (SLDP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized 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.
See also OMIM:610227

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi27C → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-30. 1 Publication1
Mutagenesisi30C → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-27. 1 Publication1
Mutagenesisi39H → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-43. 1 Publication1
Mutagenesisi43H → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-39. 1 Publication1

Organism-specific databases

DisGeNETi79755
MalaCardsiZNF750
MIMi610227 phenotype
OpenTargetsiENSG00000141579
Orphaneti168606 Seborrhea-like dermatitis with psoriasiform elements
PharmGKBiPA145149939

Polymorphism and mutation databases

BioMutaiZNF750
DMDMi110825759

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002470701 – 723Zinc finger protein 750Add BLAST723

Proteomic databases

PaxDbiQ32MQ0
PeptideAtlasiQ32MQ0
PRIDEiQ32MQ0

PTM databases

iPTMnetiQ32MQ0
PhosphoSitePlusiQ32MQ0

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

BgeeiENSG00000141579
CleanExiHS_ZNF750
ExpressionAtlasiQ32MQ0 baseline and differential
GenevisibleiQ32MQ0 HS

Organism-specific databases

HPAiHPA021573
HPA023012

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CTBP2P565453EBI-10240029,EBI-741533

Protein-protein interaction databases

BioGridi122866, 1 interactor
IntActiQ32MQ0, 1 interactor
STRINGi9606.ENSP00000269394

Structurei

3D structure databases

ProteinModelPortaliQ32MQ0
SMRiQ32MQ0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri25 – 46C2H2-type; degenerateAdd BLAST22

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IF50 Eukaryota
ENOG410ZK89 LUCA
GeneTreeiENSGT00530000063870
HOGENOMiHOG000049178
HOVERGENiHBG080198
InParanoidiQ32MQ0
OMAiHYRFFQQ
OrthoDBiEOG091G036R
PhylomeDBiQ32MQ0
TreeFamiTF331381

Sequencei

Sequence statusi: Complete.

Q32MQ0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSLLKERKPK KPHYIPRPPG KPFKYKCFQC PFTCNEKSHL FNHMKYGLCK
60 70 80 90 100
NSITLVSEQD RVPKCPKSNS LDPKQTNQPD ATAKPASSKS VANGLSAFDS
110 120 130 140 150
KLQHSSARED IKENLELQAR GTHRCLGQKP ALHRASPCKS PAPEAALGAQ
160 170 180 190 200
PALEGAARPS AFVPVGEHRL KGPDNAEAPE TLALHNPTAK AVSFHTKSAF
210 220 230 240 250
HTPGYPWKAG SPFLPPEFPH KISSTKGLGA ISPYMHPTIP EYPPHFYTEH
260 270 280 290 300
GLATIYSPYL LAGSSPECDA PLLSVYGTQD PRHFLPHPGP IPKHLAPSPA
310 320 330 340 350
TYDHYRFFQQ YPSNLPIPYG FYRPESAFSS YGLRLPPVTG LTRDQSSHLL
360 370 380 390 400
EEATLVYPAS SPSRLNPSDP NRKHVEFESP IPEAKDSSKA GQRDTEGSKM
410 420 430 440 450
SPRAGSAATG SPGRPSPTDF MQTSQTCEGL YDLSNKAASS ALGRLYPPEQ
460 470 480 490 500
SLTAFRPVKK STECLPAQAA ETTAESPVSL NVVNGDPPAP TGSASLVSEA
510 520 530 540 550
APSSPDDSSG MGPLNLSKKS EINLAATHEP TYQGSPQAET ASFSELQDLP
560 570 580 590 600
LNLSVKDPCN TQAPRPAFPG RPRAAEPAAA VPQKTGTEGS EDGPSHPETK
610 620 630 640 650
PGSLDGDGAP PTGPGEEAPD ACAVDSSEEQ KQTAAVALCQ LAAYSPRNIR
660 670 680 690 700
VGDGDAAAPE PACRQDTPTL SSMESQEAQC DLRPKGQKRT SLRDAGKSQQ
710 720
GAKKAKLQDT ARVFTLRRRA RVS
Length:723
Mass (Da):77,361
Last modified:December 6, 2005 - v1
Checksum:i890E7DB46DD0F5FF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti178A → P in BAB14718 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027062235M → V. Corresponds to variant dbSNP:rs8074277Ensembl.1
Natural variantiVAR_051502288P → L. Corresponds to variant dbSNP:rs35653278Ensembl.1
Natural variantiVAR_051503392Q → R. Corresponds to variant dbSNP:rs34687659Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiZN750_HUMAN
AccessioniPrimary (citable) accession number: Q32MQ0
Secondary accession number(s): Q9H899
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: December 6, 2005
Last modified: March 28, 2018
This is version 100 of the entry and version 1 of the sequence. See 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

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