InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FRMD7

Summary

InnateDB Protein

IDBP-86490.6

Last Modified

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

Gene Symbol

FRMD7

Protein Name

FERM domain containing 7

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000298542

InnateDB Gene

IDBG-86486 (FRMD7)

Protein Structure

UniProt Annotation

Function

Plays a role in neurite development (By similarity). May play a specific role in the control of eye movement and gaze stability. {ECO:0000250}.

Subcellular Localization

Cell projection {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Note=In undifferentiated neurons, located in the actin-rich regions of the cell body. In differentiated neurons, located in the actin-rich regions of the cell body and primary neurite processes but is almost absent from secondary extensions arising from the primary neurite. Also found at the actin-rich distal end of growth cones (By similarity). {ECO:0000250}.

Disease Associations

Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]: 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. {ECO:0000269PubMed:17013395, ECO:0000269PubMed:17397053, ECO:0000269PubMed:17768376, ECO:0000269PubMed:17893669, ECO:0000269PubMed:17962394, ECO:0000269PubMed:18246032, ECO:0000269PubMed:18431453}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina. {ECO:0000269PubMed:17013395}.

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:0003674	molecular_function

Biological Process

GO:0010975

regulation of neuron projection development

Cellular Component

GO:0005615	extracellular space
GO:0005856	cytoskeleton
GO:0030426	growth cone
GO:0043005	neuron projection
GO:0043025	neuronal cell body

Protein Structure and Domains

PDB ID

InterPro

IPR000299 FERM domain
IPR014847 FERM adjacent (FA)
IPR018979 FERM, N-terminal
IPR018980 FERM, C-terminal PH-like domain
IPR019748 FERM central domain
IPR019749 Band 4.1 domain
IPR019750 Band 4.1 family
IPR029071 Ubiquitin-related domain

PFAM

PF08736
PF09379
PF09380
PF00373

PRINTS

PR00935

PIRSF

SMART

SM00295

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt