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  2. HOMER3 - homer scaffold protein 3 Gene

HOMER3 - homer scaffold protein 3 Gene

Homo sapiens

Also known as VESL3; HOMER-3

Gene ID: 9454 | Gene type: protein coding

About HOMER3

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,929,201-18,941,217 (from NCBI)

This gene has 12 transcripts (splice variants), 206 orthologues and 2 paralogues. Broad expression in spleen (RPKM 29.6), kidney (RPKM 6.7) and 19 other tissues.

Summary

This gene encodes a member of the HOMER family of postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I Metabotropic Glutamate Receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as Neuronal Signaling, T-cell activation and trafficking of amyloid beta Peptides. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

HOMER3 Products(4)

mRNA Protein Name
NM_001145721.1 NP_001139193.1 homer protein homolog 3 isoform 2
NM_001145722.2 NP_001139194.1 homer protein homolog 3 isoform 1
NM_001145724.1 NP_001139196.1 homer protein homolog 3 isoform 3
NM_004838.4 NP_004829.3 homer protein homolog 3 isoform 1

HOMER3 Protein Structure

WH1

WH1: WH1 domain (6 - 109)

  • 0
  • 100
  • 200
  • 300
  • 361 a.a.
Protein Preferred Names Protein Names

homer protein homolog 3

Homer, neuronal immediate early gene, 3

Related Diseases

Diseases Alias
Deafness, Autosomal Dominant 68

DFNA68

Autosomal Dominant Nonsyndromic Deafness 68

Autosomal Dominant Deafness 68

Deafness, Autosomal Dominant, 68

Spinocerebellar Ataxia, Autosomal Recessive 13

Autosomal Recessive Spinocerebellar Ataxia 13

SCAR13

Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency

Autosomal Recessive Congenital Cerebellar Ataxia Due To Metabotropic Glutamate Receptor 1 Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 13

Spinocerebellar Ataxia, Autosomal Recessive, 13

Ataxia, Spinocerebellar, Autosomal Recessive, Type 13

Schizophrenia 6

SCZD6

Schizophrenia Susceptibility Locus, Chromosome 8p-Related

Schizophrenia, Type 6

Migraine, Familial Hemiplegic, 1

FHM1

Mhp1

Fhm

Familial Hemiplegic Migraine 1

Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia

Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia

Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia

Migraine, Hemiplegic, Familial, Type 1

Hemiplegic Migraine, Familial Type 1

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1

SCA1

Olivopontocerebellar Atrophy I

Opca1

Opca4

Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I

Cpd1

Olivopontocerebellar Atrophy 1

Cerebelloparenchymal Disorder 1

Olivopontocerebellar Atrophy 4

Spinocerebellar Atrophy 1

Type 1 Spinocerebellar Ataxia

Spinocerebellar Ataxia-1

Ataxia, Spinocerebellar, Type 1

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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 HOMER3 MGD MGI:1347359
Canis familiaris HOMER3 VGNC VGNC:41738
Macaca mulatta HOMER3 VGNC VGNC:97774
Bos taurus HOMER3 VGNC VGNC:29903
Rattus norvegicus HOMER3 RGD RGD:620706
Felis catus HOMER3 VGNC VGNC:101460