ZNF750
Zinc finger protein 750
Also known as: FLJ13841, Zfp750, ZN750_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q32MQ0
- Gene
- ZNF750
- Ensembl
- ENSG00000141579
- Chromosome
- 17
- Canonical length
- 723 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
723 residues, UniProt reviewed canonical sequence.
>Q32MQ0|ZNF750
1 MSLLKERKPK KPHYIPRPPG KPFKYKCFQC PFTCNEKSHL FNHMKYGLCK NSITLVSEQD
61 RVPKCPKSNS LDPKQTNQPD ATAKPASSKS VANGLSAFDS KLQHSSARED IKENLELQAR
121 GTHRCLGQKP ALHRASPCKS PAPEAALGAQ PALEGAARPS AFVPVGEHRL KGPDNAEAPE
181 TLALHNPTAK AVSFHTKSAF HTPGYPWKAG SPFLPPEFPH KISSTKGLGA ISPYMHPTIP
241 EYPPHFYTEH GLATIYSPYL LAGSSPECDA PLLSVYGTQD PRHFLPHPGP IPKHLAPSPA
301 TYDHYRFFQQ YPSNLPIPYG FYRPESAFSS YGLRLPPVTG LTRDQSSHLL EEATLVYPAS
361 SPSRLNPSDP NRKHVEFESP IPEAKDSSKA GQRDTEGSKM SPRAGSAATG SPGRPSPTDF
421 MQTSQTCEGL YDLSNKAASS ALGRLYPPEQ SLTAFRPVKK STECLPAQAA ETTAESPVSL
481 NVVNGDPPAP TGSASLVSEA APSSPDDSSG MGPLNLSKKS EINLAATHEP TYQGSPQAET
541 ASFSELQDLP LNLSVKDPCN TQAPRPAFPG RPRAAEPAAA VPQKTGTEGS EDGPSHPETK
601 PGSLDGDGAP PTGPGEEAPD ACAVDSSEEQ KQTAAVALCQ LAAYSPRNIR VGDGDAAAPE
661 PACRQDTPTL SSMESQEAQC DLRPKGQKRT SLRDAGKSQQ GAKKAKLQDT ARVFTLRRRA
721 RVSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ZNF750 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.71
- Highest tissue expression
- 135 nTPM
Expression across tissuesHPA
Tissue
- skin: 135 nTPM
- esophagus: 93 nTPM
- vagina: 51 nTPM
- cervix: 43 nTPM
- salivary gland: 32 nTPM
- tonsil: 14 nTPM
Single-cell type
- esophageal apical cells: 412 nCPM
- ocular epithelial cells: 281 nCPM
- esophageal suprabasal cells: 270 nCPM
- suprabasal keratinocytes: 188 nCPM
- urothelial cells: 172 nCPM
- esophageal basal cells: 116 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 8.1 nTPM
- cerebral cortex: 6.2 nTPM
- pons: 6 nTPM
- medulla oblongata: 5.9 nTPM
- basal ganglia: 5.8 nTPM
- amygdala: 5.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ZNF750.
Disease | AllUniProt
Conditions ZNF750 is implicated in, by any mechanism.
- Seborrhea-like dermatitis with psoriasiform elements (SLDP) MIM:610227
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 167 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Seborrhea-like dermatitis with psoriasiform elements
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.41
- gnomAD pLI
- 0.87
- gnomAD missense Z
- -0.07
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell differentiation
- epidermis development
- establishment of skin barrier
- membrane biogenesis
- negative regulation of epithelial to mesenchymal transition
- negative regulation of transcription by RNA polymerase II
- positive regulation of ceramide biosynthetic process
- positive regulation of gene expression
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- promoter-specific chromatin binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ZNF750 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ZNF750 as an antibody target. Whether an autoantibody or antibody against ZNF750 could matter depends on whether native ZNF750 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ZNF750 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ZNF750 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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