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Psd pleckstrin and Sec7 domain containing [ Mus musculus (house mouse) ]

Gene ID: 73728, updated on 5-Mar-2024

Summary

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Official Symbol
Psdprovided by MGI
Official Full Name
pleckstrin and Sec7 domain containingprovided by MGI
Primary source
MGI:MGI:1920978
See related
Ensembl:ENSMUSG00000037126 AllianceGenome:MGI:1920978
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
Efa6; Psdl; Efa6a; mKIAA2011; A930015K15; 1110007H17Rik
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Involved in neuron projection development. Located in dendritic spine and postsynaptic density, intracellular component. Is extrinsic component of postsynaptic endosome membrane. Is expressed in several structures, including alimentary system; genitourinary system; lung; nervous system; and sensory organ. Orthologous to human PSD (pleckstrin and Sec7 domain containing). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in frontal lobe adult (RPKM 68.1), cortex adult (RPKM 65.1) and 16 other tissues See more
Orthologs
human all
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Genomic context

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Location:
19 C3; 19 38.8 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (46300524..46316566, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (46312085..46328127, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene golgi-specific brefeldin A-resistance factor 1 Neighboring gene U1 small nuclear ribonucleoprotein C pseudogene Neighboring gene STARR-seq mESC enhancer starr_46298 Neighboring gene STARR-positive B cell enhancer ABC_E11035 Neighboring gene STARR-seq mESC enhancer starr_46300 Neighboring gene RIKEN cDNA 4833438C02 gene Neighboring gene STARR-positive B cell enhancer ABC_E9457 Neighboring gene nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 Neighboring gene STARR-positive B cell enhancer ABC_E973 Neighboring gene F-box and leucine-rich repeat protein 15 Neighboring gene CUE domain containing 2 Neighboring gene predicted gene, 36493 Neighboring gene microRNA 146b

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. Arf6 exchange factor EFA6 and endophilin directly interact at the plasma membrane to control clathrin-mediated endocytosis. Boulakirba S, et al. Proc Natl Acad Sci U S A, 2014 Jul 1. PMID 24979773, Free PMC Article
  2. Localization of EFA6A, a guanine nucleotide exchange factor for ARF6, in spermatogenic cells of testes of adult mice. Suzuki R, et al. J Mol Histol, 2009 Feb. PMID 19085064
  3. Predominant localization of EFA6A, a guanine nucleotide exchange factor for ARF6, at the perisynaptic photoreceptor processes. Katsumata O, et al. Brain Res, 2008 Oct 9. PMID 18708035
  4. Identification of a novel gene, PSD, adjacent to NFKB2/lyt-10, which contains Sec7 and pleckstrin-homology domains. Perletti L, et al. Genomics, 1997 Dec 1. PMID 9417912
  5. EFA6A encodes two isoforms with distinct biological activities in neuronal cells. Sironi C, et al. J Cell Sci, 2009 Jun 15. PMID 19494129

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Full-length Efa6 is membrane-attached, hence primarily blocks microtubules (MTs) in the periphery of fibroblasts, and explorative MTs that have left axonal bundles in neurons.
    Title: Efa6 protects axons and regulates their growth and branching by inhibiting microtubule polymerisation at the cortex.
  2. Arf6 exchange factor EFA6 and endophilin directly interact at the plasma membrane to control clathrin-mediated endocytosis.
    Title: Arf6 exchange factor EFA6 and endophilin directly interact at the plasma membrane to control clathrin-mediated endocytosis.
  3. EFA6A regulates Arf6-mediated neurite formation through interaction with SNX1.
    Title: EFA6A, a guanine nucleotide exchange factor for Arf6, interacts with sorting nexin-1 and regulates neurite outgrowth.
  4. Results showed that EFA6A was first shown localized intensely in nuclei of spermatocytes of adult testes and suggested a possible involvement of EFA6A-ARF6 signaling in the karyokinesis and cytokinesis.
    Title: Localization of EFA6A, a guanine nucleotide exchange factor for ARF6, in spermatogenic cells of testes of adult mice.
  5. EFA6A-ARF6 pathway may play a specific role at a subcompartment of perisynaptic photoreceptor processes
    Title: Predominant localization of EFA6A, a guanine nucleotide exchange factor for ARF6, at the perisynaptic photoreceptor processes.
  6. EFA6A may form a protein complex with alpha-actinin and activate ARF6 in close proximity of the actin cytoskeleton and membrane proteins in the dendritic spines
    Title: Somatodendritic localization of EFA6A, a guanine nucleotide exchange factor for ADP-ribosylation factor 6, and its possible interaction with alpha-actinin in dendritic spines.
  7. determined the complete primary sequence of mouse EFA6D encoding a protein of 1004 amino acids with a calculated molecular weight of 111,207 Da.
    Title: Distinct spatiotemporal expression of EFA6D, a guanine nucleotide exchange factor for ARF6, among the EFA6 family in mouse brain.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA2011

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity ISO
Inferred from Sequence Orthology
more info
  
enables phospholipid binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in neuron projection development IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynapse assembly ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cleavage furrow ISO
Inferred from Sequence Orthology
more info
  
located_in dendritic spine IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic density IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynaptic density, intracellular component IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynaptic density, intracellular component IEP
Inferred from Expression Pattern
more info
 PubMed 
located_in ruffle membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
PH and SEC7 domain-containing protein 1
Names
exchange factor for ADP-ribosylation factor guanine nucleotide factor 6
exchange factor for ARF6 A
pleckstrin and Sec7 domain containing homolog
pleckstrin homology 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_001347454.1 → NP_001334383.1  PH and SEC7 domain-containing protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC114539
    Consensus CDS
    CCDS84449.1
    UniProtKB/Swiss-Prot
    Q5DTT2
    Conserved Domains (4) summary
    PHA03247
    Location:17 → 426
    PHA03247; large tegument protein UL36; Provisional
    cd00171
    Location:543 → 709
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:754 → 878
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam05667
    Location:891 → 980
    DUF812; Protein of unknown function (DUF812)

  2. NM_028627.2 → NP_082903.2  PH and SEC7 domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_082903.2

    Status: VALIDATED

    Source sequence(s)
    BC057353
    Consensus CDS
    CCDS29875.1
    UniProtKB/Swiss-Prot
    B2RS07, B7ZNN7, Q3TY69, Q5DTT2, Q6PE10
    Related
    ENSMUSP00000039728.5, ENSMUST00000041391.5
    Conserved Domains (2) summary
    cd00171
    Location:542 → 708
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:753 → 877
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

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_000085.7 Reference GRCm39 C57BL/6J

    Range
    46300524..46316566 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006527393.3 → XP_006527456.1  PH and SEC7 domain-containing protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006527456.1

    UniProtKB/Swiss-Prot
    Q5DTT2
    Related
    ENSMUSP00000153381.2, ENSMUST00000224556.2
    Conserved Domains (1) summary
    cd13295
    Location:122 → 246
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

  2. XM_030251106.1 → XP_030106966.1  PH and SEC7 domain-containing protein 1 isoform X1

    Related
    ENSMUSP00000152942.2, ENSMUST00000225323.2
    Conserved Domains (4) summary
    PHA03247
    Location:17 → 426
    PHA03247; large tegument protein UL36; Provisional
    cd00171
    Location:543 → 709
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:754 → 878
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam05667
    Location:891 → 980
    DUF812; Protein of unknown function (DUF812)

  3. XM_006527391.4 → XP_006527454.1  PH and SEC7 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006527454.1

    UniProtKB/Swiss-Prot
    Q5DTT2
    Related
    ENSMUSP00000093729.6, ENSMUST00000096029.12
    Conserved Domains (4) summary
    PHA03247
    Location:17 → 426
    PHA03247; large tegument protein UL36; Provisional
    cd00171
    Location:543 → 709
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:754 → 878
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam05667
    Location:891 → 980
    DUF812; Protein of unknown function (DUF812)

  4. XM_030251108.2 → XP_030106968.1  PH and SEC7 domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    B2RS07, B7ZNN7, Q3TY69, Q5DTT2, Q6PE10
    Conserved Domains (2) summary
    cd00171
    Location:542 → 708
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:753 → 877
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

  5. XM_006527388.5 → XP_006527451.1  PH and SEC7 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006527451.1

    UniProtKB/Swiss-Prot
    Q5DTT2
    Conserved Domains (4) summary
    PHA03247
    Location:17 → 426
    PHA03247; large tegument protein UL36; Provisional
    cd00171
    Location:543 → 709
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:754 → 878
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam05667
    Location:891 → 980
    DUF812; Protein of unknown function (DUF812)

  6. XM_030251111.2 → XP_030106971.1  PH and SEC7 domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    B2RS07, B7ZNN7, Q3TY69, Q5DTT2, Q6PE10
    Conserved Domains (2) summary
    cd00171
    Location:542 → 708
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:753 → 877
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

  7. XM_030251105.2 → XP_030106965.1  PH and SEC7 domain-containing protein 1 isoform X1

    Conserved Domains (4) summary
    PHA03247
    Location:17 → 426
    PHA03247; large tegument protein UL36; Provisional
    cd00171
    Location:543 → 709
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:754 → 878
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam05667
    Location:891 → 980
    DUF812; Protein of unknown function (DUF812)

  8. XM_006527386.5 → XP_006527449.1  PH and SEC7 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006527449.1

    UniProtKB/Swiss-Prot
    Q5DTT2
    Conserved Domains (4) summary
    PHA03247
    Location:17 → 426
    PHA03247; large tegument protein UL36; Provisional
    cd00171
    Location:543 → 709
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:754 → 878
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam05667
    Location:891 → 980
    DUF812; Protein of unknown function (DUF812)

  9. XM_030251107.2 → XP_030106967.1  PH and SEC7 domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    B2RS07, B7ZNN7, Q3TY69, Q5DTT2, Q6PE10
    Conserved Domains (2) summary
    cd00171
    Location:542 → 708
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:753 → 877
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

  10. XM_011247376.4 → XP_011245678.1  PH and SEC7 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011245678.1

    UniProtKB/Swiss-Prot
    Q5DTT2
    Conserved Domains (4) summary
    PHA03247
    Location:17 → 426
    PHA03247; large tegument protein UL36; Provisional
    cd00171
    Location:543 → 709
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:754 → 878
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam05667
    Location:891 → 980
    DUF812; Protein of unknown function (DUF812)

  11. XM_030251104.2 → XP_030106964.1  PH and SEC7 domain-containing protein 1 isoform X1

    Conserved Domains (4) summary
    PHA03247
    Location:17 → 426
    PHA03247; large tegument protein UL36; Provisional
    cd00171
    Location:543 → 709
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:754 → 878
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam05667
    Location:891 → 980
    DUF812; Protein of unknown function (DUF812)

  12. XM_030251110.1 → XP_030106970.1  PH and SEC7 domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    B2RS07, B7ZNN7, Q3TY69, Q5DTT2, Q6PE10
    Conserved Domains (2) summary
    cd00171
    Location:542 → 708
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:753 → 877
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

  13. XM_030251109.1 → XP_030106969.1  PH and SEC7 domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    B2RS07, B7ZNN7, Q3TY69, Q5DTT2, Q6PE10
    Conserved Domains (2) summary
    cd00171
    Location:542 → 708
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:753 → 877
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

  14. XM_006527389.4 → XP_006527452.1  PH and SEC7 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006527452.1

    UniProtKB/Swiss-Prot
    Q5DTT2
    Conserved Domains (4) summary
    PHA03247
    Location:17 → 426
    PHA03247; large tegument protein UL36; Provisional
    cd00171
    Location:543 → 709
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:754 → 878
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam05667
    Location:891 → 980
    DUF812; Protein of unknown function (DUF812)

  15. XM_011247377.4 → XP_011245679.1  PH and SEC7 domain-containing protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011245679.1

    UniProtKB/Swiss-Prot
    B2RS07, B7ZNN7, Q3TY69, Q5DTT2, Q6PE10
    Conserved Domains (2) summary
    cd00171
    Location:542 → 708
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:753 → 877
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

  16. XM_036161708.1 → XP_036017601.1  PH and SEC7 domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    B2RS07, B7ZNN7, Q3TY69, Q5DTT2, Q6PE10
    Conserved Domains (2) summary
    cd00171
    Location:542 → 708
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:753 → 877
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

RNA

  1. XR_004940176.1 RNA Sequence

  2. XR_386518.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5DTT2.2 GenPept UniProtKB/Swiss-Prot:Q5DTT2

Gene LinkOut

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