FILIP1 - filamin A interacting protein 1 Gene

Also Known as FILIP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27145

About FILIP1

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:75,291,859-75,493,800 (from NCBI)

This gene has 4 transcripts (splice variants), 280 orthologues and 3 paralogues. Biased expression in heart (RPKM 16.2), esophagus (RPKM 4.3) and 12 other tissues.

Summary

This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]

FILIP1 Products (3)

mRNA Protein Name
NM_001289987.3 NP_001276916.1 filamin-A-interacting protein 1 isoform 1
NM_001300866.3 NP_001287795.1 filamin-A-interacting protein 1 isoform 3
NM_015687.5 NP_056502.1 filamin-A-interacting protein 1 isoform 2

FILIP1 Protein Structure

CortBP2

CortBP2: Cortactin-binding protein-2 (66 - 257)

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  • 1213 a.a.
Protein Preferred Names Protein Names

filamin-A-interacting protein 1

Related Diseases

Diseases Alias
Glioblastoma Proneural Subtype
Cerebrooculofacioskeletal Syndrome 1
  • Cofs Syndrome

  • COFS1

  • Pena-Shokeir Syndrome Type 2

  • Cofs

  • Pena-Shokeir Syndrome, Type Ii

  • Cerebrooculofacioskeletal Syndrome

  • Cerebro-Oculo-Facio-Skeletal Syndrome 1

  • Pena Shokeir Syndrome Type 2

Periventricular Nodular Heterotopia
  • Periventricular Heterotopia

  • Pvnh

  • Familial Nodular Heterotopia

  • Heterotopia, Periventricular

  • Periventricular Heterotopia, X-Linked

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus FILIP1 MGD MGI:1917848
Rattus norvegicus FILIP1 RGD RGD:628597
Felis catus FILIP1 VGNC VGNC:62273
Canis familiaris FILIP1 VGNC VGNC:40881
Bos taurus FILIP1 VGNC VGNC:29012
Macaca mulatta FILIP1 VGNC VGNC:72544
Others FILIP1 NCBI