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Relevance to Autism

Seven rare variants (minor allele frequency < 1%) in the HOMER1 gene were identified in a cohort of 290 non-syndromic ASD cases; none of these variants were observed in 300 ethnically matched controls. Four of the variants in the HOMER1 gene co-segregated with ASD in multiplex families (Kelleher III et al., 2012).

Molecular Function

This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Non-syndromic ASD
Support
Homer1a regulates Shank3 expression and underlies behavioral vulnerability to stress in a model of Phelan-McDermid syndrome
Phelan-McDermid syndrome
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Recent Recommendation
Overexpression of Homer1a in the basal and lateral amygdala impairs fear conditioning and induces an autism-like social impairment.
Recent Recommendation
Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum...
ASD
Recent Recommendation
Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN356R001 
 intron_variant 
 c.162+19G>T 
  
  
  
 Multiplex 
 GEN356R002 
 missense_variant 
 c.195G>T 
 p.Met65Ile 
 Familial 
 Maternal 
 Multiplex 
 GEN356R003 
 missense_variant 
 c.290C>T 
 p.Ser97Leu 
 Familial 
 Maternal 
 Multiplex 
 GEN356R004 
 missense_variant 
 c.425C>T 
 p.Pro142Leu 
 Familial 
 Paternal 
 Multiplex 
 GEN356R005 
 intron_variant 
 c.528-11T>G 
  
  
  
 Multiplex 
 GEN356R006 
 missense_variant 
 c.968G>A 
 p.Arg323His 
 De novo 
  
 Multiplex 
 GEN356R007 
 3_prime_UTR_variant 
 c.*197C>T 
  
 Familial 
 Paternal 
 Multiplex 
 GEN356R008 
 missense_variant 
 c.634A>G 
 p.Lys212Glu 
 De novo 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
5
Duplication
 1
 
5
Duplication
 4
 
5
Duplication
 1
 
5
Deletion-Duplication
 18
 
5
Duplication
 1
 

Model Summary

Dynamic epigenetic regulation of Homer1 following BDNF-induced plasticity.

References

Type
Title
Author, Year
Additional
Homer proteins regulate sensitivity to cocaine.
Additional
Homer1a signaling in the amygdala counteracts pain-related synaptic plasticity, mGluR1 function and pain behaviors.
Additional
Epigenetic modulation of Homer1a transcription regulation in amygdala and hippocampus with pavlovian fear conditioning.

M_HOMER1_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted gene deletion of exons 2, 3, and 4 of Homer1 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background: Not specified
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified

M_HOMER1_2_OE_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional gene expression of Homer1 in forebrain using the tetracycline transactivator.
Allele Type: Targeted (Overexpression)
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified

M_HOMER1_2_OE_HM_ART

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional gene expression of Homer1 in forebrain using the tetracycline transactivator with induction of mono-arthritis in one knee joint by injection of kaolin suspension into joint cavity through patellar ligament followed by repetitive flexion and injection of carrageenan solution with extension.
Allele Type: Targeted (Overexpression)
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified

M_HOMER1_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted gene deletion of 2.7kb including intron 4 and exon 5 of Homer1 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified

M_HOMER1_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
Description: Increased locomotor hyperactivity in response to acute cocaine administration
Exp Paradigm: Locomotor activity measurement in place conditioning apparatus after administration of acute cocaine
 Conditioned place preference test
 Unreported
Neurotransmitter release1
Increased
Description: Increased extracellular glutamate in nucleus accumbens in response to acute cocaine injection
Exp Paradigm: In vivo microdialysis in nucleus accumbens after acute cocaine injection (15 mg/kg, i.p.)
 Microdialysis
 Unreported
Neurotransmitter release1
Decreased
Description: Decreased basal extracellular glutamate levels in nucleus accumbens
Exp Paradigm: In vivo microdialysis in nucleusaccumbens
 Microdialysis
 Unreported
Reward reinforced choice behavior1
Increased
Description: Increased place conditioning assessed through locomotor response to injection of cocaine
Exp Paradigm: Place conditioning procedured assessing cocaine reward of 10mg/kg
 Conditioned place preference test
 Unreported
Reward reinforced choice behavior1
Decreased
Description: Decreased levels of lever pressing for the natural reinforcer sucrose
Exp Paradigm: Operant responding for sucrose
 Operant conditioning paradigm
 Unreported
General locomotor activity1
 No change
 Conditioned place preference test
 Unreported
Neurotransmitter release: catecholamines1
 No change
 Microdialysis
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_HOMER1_2_OE_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Audible vocalization1
 No change
 Monitoring ultrasonic vocalizations
 Unreported
Ultrasonic vocalization1
 No change
 Monitoring ultrasonic vocalizations
 Unreported
Spinal reflex1
 No change
 Knee joint reflex test
 Unreported
Synaptic transmission1
 No change
 Whole-cell patch clamp
 Unreported
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_HOMER1_2_OE_HM_ART

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Audible vocalization1
 No change
 Monitoring ultrasonic vocalizations
 Unreported
Ultrasonic vocalization1
 No change
 Monitoring ultrasonic vocalizations
 Unreported
Spinal reflex1
 No change
 Knee joint reflex test
 Unreported
Synaptic transmission1
 No change
 Whole-cell patch clamp
 Unreported
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_HOMER1_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cued or contextual fear conditioning: memory of cue1
Decreased
Description: Decreased cued fear conditionining measured as expression of cued fear
Exp Paradigm: Fear conditioning test
 Fear conditioning test
 6-10 weeks
Pain or nociception1
 No change
 Foot shock test
 6-10 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior





Download HOMER1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ABI3 ABI family, member 3 51225 Q9P2A4 Y2H
Rual JF , et al. 2005
ACTBL2 actin, beta-like 2 345651 Q562R1 IP; LC-MS/MS
Huttlin EL , et al. 2015
C19ORF57 chromosome 19 open reading frame 57 79173 Q0VDD7 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
C1orf116 chromosome 1 open reading frame 116 79098 Q9BW04 Y2H
Rual JF , et al. 2005
C1ORF116 chromosome 1 open reading frame 116 79098 Q9BW04 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
C22ORF41 synaptonemal complex central element protein 3 644186 A1L190 IP; LC-MS/MS
Huttlin EL , et al. 2015
CEP72 centrosomal protein 72kDa 55722 Q9P209 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
COLEC12 collectin sub-family member 12 81035 Q5KU26 IP; LC-MS/MS
Huttlin EL , et al. 2015
CSPP1 centrosome and spindle pole associated protein 1 NM_024790 Q1MSJ5 IP; LC-MS/MS
Huttlin EL , et al. 2015
DBN1 drebrin 1 1627 Q16643 IP; LC-MS/MS
Huttlin EL , et al. 2015
Dnm3 dynamin 3 171574 Q08877 IP; in vitro kinase assay
Tu JC , et al. 1998
EEF1A2 eukaryotic translation elongation factor 1 alpha 2 1917 Q05639 IP; LC-MS/MS
Huttlin EL , et al. 2015
EMILIN1 elastin microfibril interfacer 1 11117 Q9Y6C2 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAT1 FAT tumor suppressor homolog 1 (Drosophila) 2195 Q14517 Affinity chromatography; MS; Co-localization
AC/MALDI-TOF; GST
Schreiner D , et al. 2006
FAT1 FAT tumor suppressor homolog 1 (Drosophila) 14107 F2Z4A3 IP; LC-MS/MS
Badouel C , et al. 2015
FBXO28 F-box protein 28 23219 E9PEM8 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
FRYL FRY-like 285527 O94915 IP; LC-MS/MS
Huttlin EL , et al. 2015
GRAMD3 GRAM domain-containing protein 3 65983 Q96HH9 IP; LC-MS/MS
Huttlin EL , et al. 2015
Grm1 glutamate receptor, metabotropic 1 24414 P23385 Y2H; IP/WB
Brakeman PR , et al. 1997
Grm5 glutamate receptor, metabotropic 5 24418 P31424 Y2H; IP/WB
Y2H; IP/WB; GST
Brakeman PR , et al. 1997
HOMER2 homer homolog 2 (Drosophila) 9455 Q9NSB8 IP; LC-MS/MS
Huttlin EL , et al. 2015
HOMER3 homer homolog 3 (Drosophila) 9454 Q9NSC5 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
HOMER3 homer homolog 3 (Drosophila) 9454 Q9NSC5 IP; LC-MS/MS
Huttlin EL , et al. 2015
IFT57 intraflagellar transport 57 homolog (Chlamydomonas) 55081 Q9NWB7 IP; LC-MS/MS
Huttlin EL , et al. 2015
Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 25262 P29994 IP; in vitro kinase assay
Tu JC , et al. 1998
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 3709 Q14571 IP/WB
Jardin I , et al. 2012
KIF2B Kinesin-like protein KIF2B 84643 Q8N4N8 IP; LC-MS/MS
Huttlin EL , et al. 2015
KIF5B kinesin family member 5B 3799 P33176 IP; LC-MS/MS
Huttlin EL , et al. 2015
MIS18A MIS18 kinetochore protein homolog A (S. pombe) 54069 Q9NYP9 IP; LC-MS/MS
Huttlin EL , et al. 2015
NUP54 nucleoporin 54kDa 53371 Q7Z3B4 IP; LC-MS/MS
Huttlin EL , et al. 2015
OPHN1 oligophrenin 1 4983 O60890 GST
Nadif Kasri N , et al. 2011
Orai1 ORAI calcium release-activated calcium modulator 1 84876 Q96D31 IP/WB
Jardin I , et al. 2012
Ryr1 ryanodine receptor 1-like 114207 F1LMY4 GST; in vitro kinase assay
Feng W , et al. 2002
SHANK1 SH3 and multiple ankyrin repeat domains 1 78957 Q9WV48 Y2H; GST; IP/WB
Tu JC , et al. 1999
SHANK3 SH3 and multiple ankyrin repeat domains 3 59312 Q9JLU4 Y2H; GST; IP/WB
Tu JC , et al. 1999
SPTBN4 spectrin, beta, non-erythrocytic 4 57731 Q9H254 IP; LC-MS/MS
Huttlin EL , et al. 2015
SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 23380 O75044 IP/WB; Co-localization
Fossati M , et al. 2016
STIM1 stromal interaction molecule 1 6786 Q13586 IP/WB
Jardin I , et al. 2012
TCP10L T-complex protein 10A homolog 2 140290 Q8TDR4 IP; LC-MS/MS
Huttlin EL , et al. 2015
TP53BP2 tumor protein p53 binding protein, 2 7159 Q13625 IP; LC-MS/MS
Huttlin EL , et al. 2015
TPM1 tropomyosin 1 (alpha) 7168 D9YZV2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRAF5 TNF receptor-associated factor 5 7188 O00463 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRPC1 transient receptor potential cation channel, subfamily C, member 1 7220 P48995 IP/WB
Yuan JP , et al. 2003
TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene 7221 N/A IP/WB
Yuan JP , et al. 2003
TRPC5 transient receptor potential cation channel, subfamily C, member 5 7224 Q9UL62 IP/WB
Yuan JP , et al. 2003
ARNT2 aryl hydrocarbon receptor nuclear translocator 2 11864 Q61324 Gene microarray
Liu C , et al. 2003
Camk2a calcium/calmodulin-dependent protein kinase II alpha 12322 P11798 In vivo kinase assay
Guo W , et al. 2015
FAT1 FAT tumor suppressor homolog 1 (Drosophila) 2195 Q14517 Affinity chromatography; MS; Co-localization
AC/MALDI-TOF; GST
Schreiner D , et al. 2006
Grm5 glutamate receptor, metabotropic 5 108071 Q3UVX5 IP/WB; Bioluminescence resonance energy transfer assay
Guo W , et al. 2015
Klk1 kallikrein 1 16612 P15947 IP; MS
Su J , et al. 2012
Trpc3 transient receptor potential cation channel, subfamily C, member 3 22065 Q9QZC1 IP/WB
Woo JS , et al. 2008
Frmpd4 FERM and PDZ domain containing 4 302656 D4A3K7 Y2H; IP/WB
Hu JH , et al. 2012
GRM5 glutamate receptor, metabotropic 5 24418 P31424 Y2H; IP/WB
Y2H; IP/WB; GST
Brakeman PR , et al. 1997
Nfatc1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 100361818 N/A GST
Salanova M , et al. 2011
PARK2 Parkinson disease (autosomal recessive, juvenile) 2, parkin 56816 Q9JK66 IP/WB
Fallon L , et al. 2001
Plcb1 phospholipase C, beta 1 (phosphoinositide-specific) 24654 P10687 IP/WB
Grubb DR , et al. 2011
SHANK1 SH3 and multiple ankyrin repeat domains 1 78957 Q9WV48 Y2H; GST; IP/WB
Tu JC , et al. 1999
SHANK2 SH3 and multiple ankyrin repeat domains 2 171093 Q9QX74 GST; IP/WB
Hwang JI , et al. 2005
SHANK3 SH3 and multiple ankyrin repeat domains 3 59312 Q9JLU4 Y2H; GST; IP/WB
Tu JC , et al. 1999

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