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Iqsec1 IQ motif and Sec7 domain 1 [ Mus musculus (house mouse) ]

Gene ID: 232227, updated on 11-Apr-2024

Summary

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Official Symbol
Iqsec1provided by MGI
Official Full Name
IQ motif and Sec7 domain 1provided by MGI
Primary source
MGI:MGI:1196356
See related
Ensembl:ENSMUSG00000034312 AllianceGenome:MGI:1196356
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
BRAG2; cI-43; D6Ertd349e
Summary
Enables protein kinase binding activity. Involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in Schaffer collateral - CA1 synapse. Is active in glutamatergic synapse and postsynaptic density, intracellular component. Is expressed in central nervous system; forelimb muscle; sensory organ; and viscerocranium. Human ortholog(s) of this gene implicated in intellectual developmental disorder with short stature and behavioral abnormalities. Orthologous to human IQSEC1 (IQ motif and Sec7 domain ArfGEF 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung adult (RPKM 29.5), spleen adult (RPKM 27.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Iqsec1 in Genome Data Viewer
Location:
6 D1; 6 40.16 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (90636578..90965766, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (90659596..90988480, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene aldehyde dehydrogenase 1 family, member L1 Neighboring gene STARR-positive B cell enhancer ABC_E8115 Neighboring gene predicted gene 15756 Neighboring gene solute carrier family 41, member 3 Neighboring gene predicted gene, 53296 Neighboring gene STARR-positive B cell enhancer ABC_E8116 Neighboring gene STARR-seq mESC enhancer starr_16629 Neighboring gene STARR-positive B cell enhancer ABC_E6454 Neighboring gene STARR-positive B cell enhancer ABC_E10393 Neighboring gene VISTA enhancer mm1470 Neighboring gene STARR-positive B cell enhancer ABC_E10394 Neighboring gene ribosomal protein L21, pseudogene 12 Neighboring gene predicted gene, 25185 Neighboring gene protein phosphatase 1, regulatory (inhibitor) subunit 2, pseudogene 2 Neighboring gene STARR-positive B cell enhancer ABC_E4844 Neighboring gene STARR-seq mESC enhancer starr_16632 Neighboring gene predicted gene, 38860 Neighboring gene nucleoporin 210 Neighboring gene STARR-positive B cell enhancer ABC_E4845 Neighboring gene STARR-positive B cell enhancer ABC_E10395 Neighboring gene STARR-positive B cell enhancer ABC_E6455 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:91064892-91065075 Neighboring gene predicted gene, 53297

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. BRAG2a Mediates mGluR-Dependent AMPA Receptor Internalization at Excitatory Postsynapses through the Interaction with PSD-95 and Endophilin 3. Fukaya M, et al. J Neurosci, 2020 May 27. PMID 32341099, Free PMC Article
  2. The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome. Briševac D, et al. J Neurochem, 2021 May. PMID 33125726
  3. BRAG2a, a Guanine Nucleotide Exchange Factor for Arf6, Is a Component of the Dystrophin-Associated Glycoprotein Complex at the Photoreceptor Terminal. Sakagami H, et al. Invest Ophthalmol Vis Sci, 2017 Jul 1. PMID 28744553
  4. Distinct synaptic localization patterns of brefeldin A-resistant guanine nucleotide exchange factors BRAG2 and BRAG3 in the mouse retina. Sakagami H, et al. J Comp Neurol, 2013 Mar 1. PMID 22886754
  5. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. Ansar M, et al. Am J Hum Genet, 2019 Nov 7. PMID 31607425, Free PMC Article

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BRAG2a Mediates mGluR-Dependent AMPA Receptor Internalization at Excitatory Postsynapses through the Interaction with PSD-95 and Endophilin 3.
    Title: BRAG2a Mediates mGluR-Dependent AMPA Receptor Internalization at Excitatory Postsynapses through the Interaction with PSD-95 and Endophilin 3.
  2. The present study provided evidence that BRAG2a is a novel component of the photoreceptor dystrophin-associated glycoprotein complex (DGC), suggesting functional involvement of the BRAG2a-Arf6 pathway downstream of the DGC.
    Title: BRAG2a, a Guanine Nucleotide Exchange Factor for Arf6, Is a Component of the Dystrophin-Associated Glycoprotein Complex at the Photoreceptor Terminal.
  3. both Arf6 activation through GluN2B-BRAG1 during early development and the transition from BRAG1- to BRAG2-dependent Arf6 signaling induced by the GluN2 subunit switch are critical for the development of mature glutamatergic synapses.
    Title: Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation.
  4. BRAG2 localized to postsynaptic processes at bipolar dyads, while BRAG3 localized to postsynaptic components at conventional synapses in mouse retina
    Title: Distinct synaptic localization patterns of brefeldin A-resistant guanine nucleotide exchange factors BRAG2 and BRAG3 in the mouse retina.
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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0763

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in dendritic spine development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of focal adhesion disassembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of keratinocyte migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of synapse assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in postsynaptic modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in postsynaptic modulation of chemical synaptic transmission IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in postsynaptic modulation of chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of ARF protein signal transduction ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of postsynaptic neurotransmitter receptor internalization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of postsynaptic neurotransmitter receptor internalization IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in regulation of postsynaptic neurotransmitter receptor internalization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of postsynaptic neurotransmitter receptor internalization ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in Schaffer collateral - CA1 synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in Schaffer collateral - CA1 synapse IEP
Inferred from Expression Pattern
more info
 PubMed 
is_active_in Schaffer collateral - CA1 synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
is_active_in postsynaptic density, intracellular component IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
IQ motif and SEC7 domain-containing protein 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_001134383.2 → NP_001127855.1  IQ motif and SEC7 domain-containing protein 1 isoform a

    See identical proteins and their annotated locations for NP_001127855.1

    Status: VALIDATED

    Source sequence(s)
    AC121954
    Consensus CDS
    CCDS51850.1
    UniProtKB/Swiss-Prot
    Q3TZC3, Q5DU15, Q8R0S2
    Related
    ENSMUSP00000098712.4, ENSMUST00000101153.10
    Conserved Domains (2) summary
    cd13318
    Location:747 → 877
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:522 → 710
    Sec7; Sec7 domain

  2. NM_001134384.2 → NP_001127856.1  IQ motif and SEC7 domain-containing protein 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC121954, AC165974
    Consensus CDS
    CCDS51851.1
    UniProtKB/TrEMBL
    E9PUA3
    Related
    ENSMUSP00000098710.4, ENSMUST00000101151.10
    Conserved Domains (2) summary
    cd13318
    Location:733 → 863
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:508 → 696
    Sec7; Sec7 domain

  3. NM_001356440.2 → NP_001343369.1  IQ motif and SEC7 domain-containing protein 1 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC121954, AC165974
    UniProtKB/TrEMBL
    A0A5F8MPT9
    Conserved Domains (3) summary
    cd13318
    Location:733 → 863
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:508 → 696
    Sec7; Sec7 domain
    cl28033
    Location:196 → 413
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

  4. NM_001408942.1 → NP_001395871.1  IQ motif and SEC7 domain-containing protein 1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC121954

  5. NM_001408943.1 → NP_001395872.1  IQ motif and SEC7 domain-containing protein 1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC121954

  6. NM_001408944.1 → NP_001395873.1  IQ motif and SEC7 domain-containing protein 1 isoform f

    Status: VALIDATED

    Source sequence(s)
    AC121954

  7. NM_001408946.1 → NP_001395875.1  IQ motif and SEC7 domain-containing protein 1 isoform g

    Status: VALIDATED

    Source sequence(s)
    AC121954, AC165974

  8. NM_001408947.1 → NP_001395876.1  IQ motif and SEC7 domain-containing protein 1 isoform h

    Status: VALIDATED

    Source sequence(s)
    AC121954

  9. NM_001408948.1 → NP_001395877.1  IQ motif and SEC7 domain-containing protein 1 isoform h

    Status: VALIDATED

    Source sequence(s)
    AC121954

  10. NM_001408949.1 → NP_001395878.1  IQ motif and SEC7 domain-containing protein 1 isoform i

    Status: VALIDATED

    Source sequence(s)
    AC121954, AC165974

  11. NM_001408950.1 → NP_001395879.1  IQ motif and SEC7 domain-containing protein 1 isoform j

    Status: VALIDATED

    Source sequence(s)
    AC121954

  12. NM_001408951.1 → NP_001395880.1  IQ motif and SEC7 domain-containing protein 1 isoform k

    Status: VALIDATED

    Source sequence(s)
    AC121954
    Related
    ENSMUSP00000159115.2, ENSMUST00000238821.2

  13. NM_001408952.1 → NP_001395881.1  IQ motif and SEC7 domain-containing protein 1 isoform l

    Status: VALIDATED

    Source sequence(s)
    AC121954

  14. NM_001408953.1 → NP_001395882.1  IQ motif and SEC7 domain-containing protein 1 isoform m

    Status: VALIDATED

    Source sequence(s)
    AC121954

  15. NM_001408954.1 → NP_001395883.1  IQ motif and SEC7 domain-containing protein 1 isoform n

    Status: VALIDATED

    Source sequence(s)
    AC121954, AC165974

  16. NM_001408955.1 → NP_001395884.1  IQ motif and SEC7 domain-containing protein 1 isoform o

    Status: VALIDATED

    Source sequence(s)
    AC121954

  17. NM_001408956.1 → NP_001395885.1  IQ motif and SEC7 domain-containing protein 1 isoform p

    Status: VALIDATED

    Source sequence(s)
    AC121954

  18. NM_001408957.1 → NP_001395886.1  IQ motif and SEC7 domain-containing protein 1 isoform p

    Status: VALIDATED

    Source sequence(s)
    AC121954

  19. NM_001408958.1 → NP_001395887.1  IQ motif and SEC7 domain-containing protein 1 isoform p

    Status: VALIDATED

    Source sequence(s)
    AC121954

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    90636578..90965766 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036166051.1 → XP_036021944.1  IQ motif and SEC7 domain-containing protein 1 isoform X3

    Conserved Domains (2) summary
    pfam01369
    Location:597 → 785
    Sec7; Sec7 domain
    pfam16453
    Location:817 → 952
    IQ_SEC7_PH; PH domain

  2. XM_011241302.4 → XP_011239604.1  IQ motif and SEC7 domain-containing protein 1 isoform X8

    Conserved Domains (2) summary
    pfam01369
    Location:612 → 800
    Sec7; Sec7 domain
    pfam16453
    Location:832 → 962
    IQ_SEC7_PH; PH domain

  3. XM_006505991.5 → XP_006506054.1  IQ motif and SEC7 domain-containing protein 1 isoform X10

    Conserved Domains (2) summary
    pfam01369
    Location:612 → 800
    Sec7; Sec7 domain
    pfam16453
    Location:832 → 962
    IQ_SEC7_PH; PH domain

  4. XM_006505990.5 → XP_006506053.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

    UniProtKB/TrEMBL
    A0A1D5RM83
    Related
    ENSMUSP00000148669.2, ENSMUST00000212100.2
    Conserved Domains (2) summary
    pfam01369
    Location:612 → 800
    Sec7; Sec7 domain
    pfam16453
    Location:832 → 962
    IQ_SEC7_PH; PH domain

  5. XM_006505983.5 → XP_006506046.1  IQ motif and SEC7 domain-containing protein 1 isoform X1

    Conserved Domains (2) summary
    pfam01369
    Location:612 → 800
    Sec7; Sec7 domain
    pfam16453
    Location:832 → 962
    IQ_SEC7_PH; PH domain

  6. XM_030255341.1 → XP_030111201.1  IQ motif and SEC7 domain-containing protein 1 isoform X14

    Conserved Domains (3) summary
    PHA03307
    Location:196 → 413
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam01369
    Location:508 → 696
    Sec7; Sec7 domain
    pfam16453
    Location:728 → 858
    IQ_SEC7_PH; PH domain

  7. XM_006505986.4 → XP_006506049.1  IQ motif and SEC7 domain-containing protein 1 isoform X6

    Conserved Domains (2) summary
    pfam01369
    Location:523 → 711
    Sec7; Sec7 domain
    pfam16453
    Location:743 → 873
    IQ_SEC7_PH; PH domain

  8. XM_006505984.4 → XP_006506047.2  IQ motif and SEC7 domain-containing protein 1 isoform X2

    Conserved Domains (3) summary
    PHA03307
    Location:89 → 306
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam01369
    Location:401 → 589
    Sec7; Sec7 domain
    pfam16453
    Location:621 → 751
    IQ_SEC7_PH; PH domain

  9. XM_030255343.2 → XP_030111203.1  IQ motif and SEC7 domain-containing protein 1 isoform X2

    Conserved Domains (3) summary
    PHA03307
    Location:89 → 306
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam01369
    Location:401 → 589
    Sec7; Sec7 domain
    pfam16453
    Location:621 → 751
    IQ_SEC7_PH; PH domain

  10. XM_017321533.2 → XP_017177022.1  IQ motif and SEC7 domain-containing protein 1 isoform X2

    Conserved Domains (3) summary
    PHA03307
    Location:89 → 306
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam01369
    Location:401 → 589
    Sec7; Sec7 domain
    pfam16453
    Location:621 → 751
    IQ_SEC7_PH; PH domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_182784.1: Suppressed sequence

    Description
    NM_182784.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8R0S2.2 GenPept UniProtKB/Swiss-Prot:Q8R0S2

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