Entity Details

Primary name ERF_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP50548
EntryNameERF_HUMAN
FullNameETS domain-containing transcription factor ERF
TaxID9606
Evidenceevidence at protein level
Length548
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesERF

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0030154 cell differentiation
GO:0043565 sequence-specific DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000418 Ets domainDomainDomain
IPR032925 ETS domain-containing transcription factor ERFFamilyFamily
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
600775 OMIMCraniosynostosis 4 (CRS4)A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. The disease is caused by variants affecting the gene represented in this entry.
617180 OMIMChitayat syndrome (CHYTS)An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy. The disease is caused by variants affecting the gene represented in this entry.