Entity Details

Primary name FRMD7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6ZUT3
EntryNameFRMD7_HUMAN
FullNameFERM domain-containing protein 7
TaxID9606
Evidenceevidence at protein level
Length714
SequenceStatuscomplete
DateCreated2006-10-31
DateModified2021-06-02

Ontological Relatives

GenesFRMD7

GO terms

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GOName
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0007399 nervous system development
GO:0010592 positive regulation of lamellipodium assembly
GO:0010975 regulation of neuron projection development
GO:0030426 growth cone
GO:0032091 negative regulation of protein binding
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0051057 positive regulation of small GTPase mediated signal transduction
GO:0051497 negative regulation of stress fiber assembly

Subcellular Location

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Subcellular Location
Cell projection

Domains

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DomainNameCategoryType
IPR000299 FERM domainDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR014352 FERM/acyl-CoA-binding protein superfamilyFamilyHomologous superfamily
IPR014847 FERM adjacent (FA)DomainDomain
IPR018979 FERM, N-terminalDomainDomain
IPR018980 FERM, C-terminal PH-like domainDomainDomain
IPR019747 FERM conserved siteSiteConserved site
IPR019748 FERM central domainDomainDomain
IPR019749 Band 4.1 domainDomainDomain
IPR029071 Ubiquitin-like domain superfamilyFamilyHomologous superfamily
IPR035963 FERM superfamily, second domainFamilyHomologous superfamily
IPR041788 FARP1/FARP2/FRMD7, FERM domain C-lobeDomainDomain

Diseases

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Disease IDSourceNameDescription
310700 OMIMNystagmus congenital X-linked 1 (NYS1)A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
FRMD7_HUMANICLN_HUMANBioGRID, IntAct32296183 details
FRMD7_HUMANCSKP_HUMANBioGRID23406872 details