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

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; AllianceGenome:HGNC:17512
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: mouse all
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Genomic context

Location:: 5q14.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (79372636..79514134, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (79856812..79998313, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (78668459..78809957, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Elaboration of the Homer1 recognition landscape reveals incomplete divergence of paralogous EVH1 domains.
Title: Elaboration of the Homer1 recognition landscape reveals incomplete divergence of paralogous EVH1 domains.
CircHOMER1 aggravates oxidative stress, inflammation and extracellular matrix deposition in high glucose-induced human mesangial cells.
Title: CircHOMER1 aggravates oxidative stress, inflammation and extracellular matrix deposition in high glucose-induced human mesangial cells.
Homer1a regulates Shank3 expression and underlies behavioral vulnerability to stress in a model of Phelan-McDermid syndrome.
Title: Homer1a regulates Shank3 expression and underlies behavioral vulnerability to stress in a model of Phelan-McDermid syndrome.
Self-reported Sleep Problems Related to Amyloid Deposition in Cortical Regions with High HOMER1 Gene Expression.
Title: Self-reported Sleep Problems Related to Amyloid Deposition in Cortical Regions with High HOMER1 Gene Expression.
The Role of Stress-Induced Changes of Homer1 Expression in Stress Susceptibility.
Title: The Role of Stress-Induced Changes of Homer1 Expression in Stress Susceptibility.
The mTORC2 Regulator Homer1 Modulates Protein Levels and Sub-Cellular Localization of the CaSR in Osteoblast-Lineage Cells.
Title: The mTORC2 Regulator Homer1 Modulates Protein Levels and Sub-Cellular Localization of the CaSR in Osteoblast-Lineage Cells.
Multiple signaling pathways are essential for synapse formation induced by synaptic adhesion molecules.
Title: Multiple signaling pathways are essential for synapse formation induced by synaptic adhesion molecules.
A single nucleotide polymorphism in the HOMER1 gene is associated with sleep latency and theta power in sleep electroencephalogram.
Title: A single nucleotide polymorphism in the HOMER1 gene is associated with sleep latency and theta power in sleep electroencephalogram.
Homer1 regulates RyR1 by direct interaction.
Title: Interaction of the Homer1 EVH1 domain and skeletal muscle ryanodine receptor.
Monomeric Homer 1a proteins increase activity of Imin channels, but did not modulate their electrophysiological properties. Recombinant Homer 1c protein did not block the induced calcium currents.
Title: Homer 1a Induces Calcium Channel Activation, but Does Not Change Their Properties in A431 Cells.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants in the GDF5-UQCC region are associated with variation in human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of selenium concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association-, replication-, and neuroimaging study implicates HOMER1 in the etiology of major depression. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HOMER1_8943 (e-PCR)
- UniSTS:467717

A009D02 (e-PCR)
- UniSTS:16136

G32434 (e-PCR)
- UniSTS:117021

RH80198 (e-PCR)
- UniSTS:91176

STS-H49335 (e-PCR)
- UniSTS:6467

G62532 (e-PCR)
- UniSTS:139661

SHGC-57966 (e-PCR)
- UniSTS:44195

D5S2634 (e-PCR)
- UniSTS:13997

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
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables scaffold protein binding	IEA Inferred from Electronic Annotation more info
enables signaling adaptor activity	IC Inferred by Curator more info	PubMed
enables structural constituent of postsynapse	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables type 5 metabotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled glutamate receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in behavioral response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in circadian rhythm	IEA Inferred from Electronic Annotation more info
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 postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in protein localization to synapse	IEA Inferred from Electronic Annotation more info
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 store-operated calcium entry	IBA Inferred from Biological aspect of Ancestor more info
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 response to nicotine	IEA Inferred from Electronic Annotation more info
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
located_in cytosol	TAS Traceable Author Statement more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic shaft	IEA Inferred from Electronic Annotation more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in excitatory synapse	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
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
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

General protein information

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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)

NM_001277077.1 → NP_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:3 → 101

EVH1_Homer_Vesl; Homer/Vesl family proteins EVH1 domain

cl25602
Location:137 → 222

DUF3552; Domain of unknown function (DUF3552)
NM_001277078.1 → NP_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:3 → 111

EVH1_Homer_Vesl; Homer/Vesl family proteins EVH1 domain
NM_004272.5 → NP_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

B2R688, O96003, Q86YM5, Q86YM7

UniProtKB/TrEMBL

Q53F18, Q5U5K4

Related

ENSP00000334382.6, ENST00000334082.11

Conserved Domains (2) summary

cd01206
Location:3 → 111

EVH1_Homer_Vesl; Homer/Vesl family proteins EVH1 domain

cl25732
Location:157 → 352

SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

79372636..79514134 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417894.1 → XP_047273850.1 homer protein homolog 1 isoform X1

UniProtKB/TrEMBL

Q53F18, Q5U5K4
XM_017010059.3 → XP_016865548.1 homer protein homolog 1 isoform X2

Conserved Domains (1) summary

cd01206
Location:3 → 111

EVH1_Homer_Vesl; Homer/Vesl family proteins EVH1 domain

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

79856812..79998313 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353823.1 → XP_054209798.1 homer protein homolog 1 isoform X1

UniProtKB/TrEMBL

Q53F18, Q5U5K4
XM_054353824.1 → XP_054209799.1 homer protein homolog 1 isoform X2