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

    Gene ID: 232227, updated on 9-Dec-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. Is active in Schaffer collateral - CA1 synapse; 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 and lung adenocarcinoma. Orthologous to human IQSEC1 (IQ motif and Sec7 domain ArfGEF 1). [provided by Alliance of Genome Resources, Dec 2024]
    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. The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome. Briševac D, et al. J Neurochem, 2021 May. PMID 33125726
    2. 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
    3. 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
    4. 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
    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 (43) 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.
    Submit: New GeneRIF Correction

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    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 synaptic vesicle 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
      UniProtKB/TrEMBL
      A0A5F8MPT9
      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
      UniProtKB/TrEMBL
      A0A5F8MPT9

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

      Status: VALIDATED

      Source sequence(s)
      AC121954
      UniProtKB/TrEMBL
      A0A5F8MPT9

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

      Status: VALIDATED

      Source sequence(s)
      AC121954, AC165974
      UniProtKB/TrEMBL
      A0A5F8MPT9

    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
      UniProtKB/TrEMBL
      A0A5F8MPT9

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

      Status: VALIDATED

      Source sequence(s)
      AC121954
      UniProtKB/TrEMBL
      A0A5F8MPT9

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

      Status: VALIDATED

      Source sequence(s)
      AC121954
      UniProtKB/TrEMBL
      A0A5F8MPT9

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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