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Protein

Zinc finger protein 750

Gene

ZNF750

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

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • epidermis development Source: UniProtKB
  • 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

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

HGNCiHGNC:25843. ZNF750.

Subcellular locationi

GO - Cellular componenti

  • intracellular membrane-bounded organelle Source: HPA
  • nucleolus Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

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.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 C2H2-type zinc finger.Curated

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 rs8074277dbSNPEnsembl.1
Natural variantiVAR_051502288P → L.Corresponds to variant rs35653278dbSNPEnsembl.1
Natural variantiVAR_051503392Q → R.Corresponds to variant rs34687659dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ32MQ0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122866. 1 interactor.
IntActiQ32MQ0. 1 interactor.
STRINGi9606.ENSP00000269394.

PTM databases

iPTMnetiQ32MQ0.
PhosphoSitePlusiQ32MQ0.

Polymorphism and mutation databases

BioMutaiZNF750.
DMDMi110825759.

Proteomic databases

PaxDbiQ32MQ0.
PeptideAtlasiQ32MQ0.
PRIDEiQ32MQ0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269394; ENSP00000269394; ENSG00000141579.
GeneIDi79755.
KEGGihsa:79755.
UCSCiuc002kga.4. human.

Organism-specific databases

CTDi79755.
DisGeNETi79755.
GeneCardsiZNF750.
HGNCiHGNC:25843. ZNF750.
HPAiHPA021573.
HPA023012.
MalaCardsiZNF750.
MIMi610226. gene.
610227. phenotype.
neXtProtiNX_Q32MQ0.
OpenTargetsiENSG00000141579.
Orphaneti168606. Seborrhea-like dermatitis with psoriasiform elements.
PharmGKBiPA145149939.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-212436. Generic Transcription Pathway.

Miscellaneous databases

GenomeRNAii79755.
PROiQ32MQ0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141579.
CleanExiHS_ZNF750.
ExpressionAtlasiQ32MQ0. baseline and differential.
GenevisibleiQ32MQ0. HS.

Family and domain databases

ProtoNetiSearch...

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: November 2, 2016
This is version 92 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.