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HOMER1 homer scaffold protein 1 [ Homo sapiens (human) ]

Gene ID: 9456, updated on 22-Aug-2021

Summary

Official Symbol
HOMER1provided by HGNC
Official Full Name
homer scaffold protein 1provided by HGNC
Primary source
HGNC:HGNC:17512
See related
Ensembl:ENSG00000152413 MIM:604798
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HOMER; SYN47; Ves-1; HOMER1A; HOMER1B; HOMER1C
Summary
This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 8.6), thyroid (RPKM 5.8) and 14 other tissues See more
Orthologs
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Genomic context

See HOMER1 in Genome Data Viewer
Location:
5q14.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (79372636..79514134, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (78668459..78809957, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene junction mediating and regulatory protein, p53 cofactor Neighboring gene uncharacterized LOC102724530 Neighboring gene uncharacterized LOC101929201 Neighboring gene uncharacterized LOC107986426 Neighboring gene Sharpr-MPRA regulatory region 1837 Neighboring gene ribosomal protein L29 pseudogene 15 Neighboring gene uncharacterized LOC105379047 Neighboring gene ribosomal protein L7a pseudogene 32

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants in the GDF5-UQCC region are associated with variation in human height.
GeneReviews: Not available
Genome-wide association study of selenium concentrations.
GeneReviews: Not available
Genome-wide association-, replication-, and neuroimaging study implicates HOMER1 in the etiology of major depression.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled glutamate receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling adaptor activity IC
Inferred by Curator
more info
PubMed 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled glutamate receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in behavioral response to cocaine IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical homeostasis within a tissue IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in phospholipase C-activating G protein-coupled glutamate receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of calcium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of signal transduction IC
Inferred by Curator
more info
PubMed 
involved_in protein tetramerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of calcium ion import IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cation channel activity TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of dendritic spine maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of postsynaptic neurotransmitter receptor activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of store-operated calcium entry IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of store-operated calcium entry TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of synaptic transmission, glutamatergic ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in skeletal muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Z disc IEA
Inferred from Electronic Annotation
more info
 
located_in apical part of cell IEA
Inferred from Electronic Annotation
more info
 
located_in axon IEA
Inferred from Electronic Annotation
more info
 
located_in costamere IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in neuron spine ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in postsynaptic cytosol IEA
Inferred from Electronic Annotation
more info
 
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
homer protein homolog 1
Names
homer homolog 1
homer scaffolding protein 1
homer, neuronal immediate early gene, 1
homer-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001277077.1NP_001264006.1  homer protein homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_001264006.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2, also known as HOMER1E) lacks three consecutive coding exons compared to variant 1. The missing segment is in-frame, so the resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC020898, AC093270, AY189939
    Consensus CDS
    CCDS64188.1
    UniProtKB/Swiss-Prot
    Q86YM7
    Related
    ENSP00000282260.6, ENST00000282260.10
    Conserved Domains (2) summary
    cd01206
    Location:3101
    EVH1_Homer_Vesl; Homer/Vesl family proteins EVH1 domain
    cl25602
    Location:137222
    DUF3552; Domain of unknown function (DUF3552)
  2. NM_001277078.1NP_001264007.1  homer protein homolog 1 isoform 3

    See identical proteins and their annotated locations for NP_001264007.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3, also known as HOMER1H) lacks three consecutive coding exons compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC020898, AC093270, AY189941
    Consensus CDS
    CCDS64189.1
    UniProtKB/Swiss-Prot
    Q86YM7
    Related
    ENSP00000426651.1, ENST00000508576.5
    Conserved Domains (1) summary
    cd01206
    Location:3111
    EVH1_Homer_Vesl; Homer/Vesl family proteins EVH1 domain
  3. NM_004272.5NP_004263.1  homer protein homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_004263.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC020898, AC093270, AK312481, BC047438
    Consensus CDS
    CCDS43335.1
    UniProtKB/Swiss-Prot
    Q86YM7
    UniProtKB/TrEMBL
    Q5U5K4
    Related
    ENSP00000334382.6, ENST00000334082.11
    Conserved Domains (2) summary
    cd01206
    Location:3111
    EVH1_Homer_Vesl; Homer/Vesl family proteins EVH1 domain
    cl25732
    Location:157352
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    79372636..79514134 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010059.2XP_016865548.1  homer protein homolog 1 isoform X1

    Conserved Domains (1) summary
    cd01206
    Location:3111
    EVH1_Homer_Vesl; Homer/Vesl family proteins EVH1 domain
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