InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ZNF750

Summary

InnateDB Protein

IDBP-73838.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ZNF750

Protein Name

zinc finger protein 750

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000269394

InnateDB Gene

IDBG-73836 (ZNF750)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:22364861}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:22364861}.

Disease Associations

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. {ECO:0000269PubMed:16751772}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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. {ECO:0000269PubMed:16751772}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001046	core promoter sequence-specific DNA binding
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0046872	metal ion binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0008544	epidermis development
GO:0030154	cell differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter