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Aliases for PSD Gene

Aliases for PSD Gene

  • Pleckstrin And Sec7 Domain Containing 2 3 5
  • Exchange Factor For ADP-Ribosylation Factor Guanine Nucleotide Factor 6 3 4
  • Pleckstrin Homology And SEC7 Domain-Containing Protein 1 3 4
  • Exchange Factor For ARF6 A 3 4
  • Exchange Factor For ARF6 3 4
  • EFA6A 3 4
  • EFA6 3 4
  • PSD1 3 4
  • TYL 3 4
  • PH And SEC7 Domain-Containing Protein 1 3
  • Pleckstrin And Sec7 Domain Protein 2
  • Pleckstrin-Sec7 Domains-Containing 3
  • KIAA2011 4

External Ids for PSD Gene

Previous GeneCards Identifiers for PSD Gene

  • GC10M103055
  • GC10M103396
  • GC10M104293
  • GC10M103826
  • GC10M104152
  • GC10M097795

Summaries for PSD Gene

Entrez Gene Summary for PSD Gene

  • This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

GeneCards Summary for PSD Gene

PSD (Pleckstrin And Sec7 Domain Containing) is a Protein Coding gene. Diseases associated with PSD include Branch Retinal Artery Occlusion. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include signal transducer activity and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is PSD2.

UniProtKB/Swiss-Prot for PSD Gene

  • Guanine nucleotide exchange factor for ARF6 (PubMed:23603394). Induces cytoskeletal remodeling (By similarity).

Additional gene information for PSD Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSD Gene

Genomics for PSD Gene

GeneHancer (GH) Regulatory Elements for PSD Gene

Promoters and enhancers for PSD Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I102418 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.6 593 5.1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 FBXL15 PSD PPRC1 PDCD11 PCGF6 GBF1 SFXN2 NOLC1 TAF5 RPEL1
GH10I102501 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11 -81.9 -81850 4.6 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ACTR1A SUFU MFSD13A PDCD11 TAF5 PPRC1 PCGF6 RNU6-43P C10orf95 FBXL15
GH10I102595 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -179.1 -179132 11.2 FOXA2 MLX ARID4B DMAP1 ZNF2 YY1 ZNF766 ZNF143 FOS SP5 MFSD13A SFXN2 ACTR1A SUFU C10orf95 PSD FBXL15 CUEDC2 MIR146B ARL3
GH10I102169 Enhancer 1.1 Ensembl ENCODE 10.3 +251.8 251842 1 ATF1 ARID4B SIN3A ZNF2 ZNF121 ZNF143 ATF7 RUNX3 DEK REST GBF1 NOLC1 ELOVL3 HPS6 PITX3 PPRC1 NFKB2 PSD FBXL15
GH10I102239 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 5.8 +180.2 180179 2.9 PKNOX1 ATF1 ARID4B SIN3A ZNF48 GLIS2 SP3 SP5 NCOA1 NFYC PITX3 PSD ELOVL3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PSD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PSD gene promoter:

Genomic Locations for PSD Gene

Genomic Locations for PSD Gene
18,923 bases
Minus strand

Genomic View for PSD Gene

Genes around PSD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSD Gene

Proteins for PSD Gene

  • Protein details for PSD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    PH and SEC7 domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B1AKX7
    • D3DR87
    • Q15673
    • Q8IVG0

    Protein attributes for PSD Gene

    1024 amino acids
    Molecular mass:
    109543 Da
    Quaternary structure:
    • Interacts with ACTN1. Interacts (ARF6-bound form) with KCNK1; does not interact with KCNK1 in the absence of ARF6 (By similarity).
    • Sequence=BAC23107.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PSD Gene


neXtProt entry for PSD Gene

Post-translational modifications for PSD Gene

No Post-translational modifications

No data available for DME Specific Peptides for PSD Gene

Domains & Families for PSD Gene

Gene Families for PSD Gene

Suggested Antigen Peptide Sequences for PSD Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PSD family.
  • Belongs to the PSD family.
genes like me logo Genes that share domains with PSD: view

Function for PSD Gene

Molecular function for PSD Gene

GENATLAS Biochemistry:
pleckstrin-Sec 7 domains protein,71kDa,with three alternatively spliced forms the larger in the brain,tightly linked to NKF2,in tail to tail orientation
UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor for ARF6 (PubMed:23603394). Induces cytoskeletal remodeling (By similarity).

Phenotypes From GWAS Catalog for PSD Gene

Gene Ontology (GO) - Molecular Function for PSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity NAS 9417912
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005086 ARF guanyl-nucleotide exchange factor activity IDA 23603394
GO:0005515 protein binding IPI 20339350
GO:0005543 phospholipid binding IEA --
genes like me logo Genes that share ontologies with PSD: view
genes like me logo Genes that share phenotypes with PSD: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSD Gene

Localization for PSD Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSD Gene

Cell membrane. Cell projection, ruffle membrane. Cleavage furrow. Note=Distributed uniformly on the plasma membrane, as well as throughout the cytoplasm during metaphase. Subsequently concentrated at patches in the equatorial region at the onset of cytokinesis, and becomes distributed in the equatorial region concurrent with cleavage furrow ingression. In later cytokinesis phases, fades away from the cleavage furrow and becomes uniformly distributed throughout the plasma membrane. {ECO:0000269 PubMed:23603394}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSD gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
endosome 3
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0032154 cleavage furrow IDA,IEA 23603394
GO:0032587 ruffle membrane IEA,IDA 23603394
genes like me logo Genes that share ontologies with PSD: view

Pathways & Interactions for PSD Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with PSD: view

Pathways by source for PSD Gene

1 KEGG pathway for PSD Gene

Gene Ontology (GO) - Biological Process for PSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 9417912
GO:0031175 neuron projection development IEA --
GO:0032012 regulation of ARF protein signal transduction IEA --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with PSD: view

No data available for SIGNOR curated interactions for PSD Gene

Drugs & Compounds for PSD Gene

(3) Drugs for PSD Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with PSD: view

Transcripts for PSD Gene

Unigene Clusters for PSD Gene

Pleckstrin and Sec7 domain containing:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSD Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^ 16 ^ 17a ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: -
SP6: - -
SP9: - - - - -
SP10: - - - -
SP11: - - -
SP12: - -

ExUns: 17b ^ 18a · 18b · 18c · 18d ^ 19a · 19b ^ 20a · 20b
SP5: -
SP6: -
SP7: - -
SP8: - -

Relevant External Links for PSD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PSD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PSD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSD Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.6), Brain - Hippocampus (x4.8), Brain - Putamen (basal ganglia) (x4.6), Brain - Amygdala (x4.5), Brain - Cortex (x4.4), and Brain - Caudate (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for PSD Gene

This gene is overexpressed in Plasma (38.7), Fetal Brain (18.2), and Platelet (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PSD Gene

Protein tissue co-expression partners for PSD Gene

NURSA nuclear receptor signaling pathways regulating expression of PSD Gene:


SOURCE GeneReport for Unigene cluster for PSD Gene:


mRNA Expression by UniProt/SwissProt for PSD Gene:

Tissue specificity: Isoform 2 is expressed in the brain.

Evidence on tissue expression from TISSUES for PSD Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with PSD: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PSD Gene

Orthologs for PSD Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PSD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PSD 33 34
  • 98.48 (n)
(Canis familiaris)
Mammalia PSD 33 34
  • 93.29 (n)
(Bos Taurus)
Mammalia PSD 33 34
  • 91.98 (n)
(Mus musculus)
Mammalia Psd 33 16 34
  • 89.74 (n)
(Rattus norvegicus)
Mammalia Psd 33
  • 89.47 (n)
(Monodelphis domestica)
Mammalia PSD 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia PSD 34
  • 69 (a)
(Gallus gallus)
Aves PSD 33 34
  • 67.37 (n)
(Anolis carolinensis)
Reptilia PSD 34
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia psd 33
  • 62.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33589 33
(Danio rerio)
Actinopterygii LOC570918 33
  • 65.08 (n)
PSD (1 of 3) 34
  • 54 (a)
PSD (2 of 3) 34
  • 29 (a)
CABZ01075947.1 34
  • 23 (a)
fruit fly
(Drosophila melanogaster)
Insecta Efa6 34
  • 19 (a)
(Caenorhabditis elegans)
Secernentea Y55D9A.1a 35
  • 37 (a)
Y55D9A.1b 35
  • 37 (a)
efa-6 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GEA2 34
  • 8 (a)
GEA1 34
  • 7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
Species where no ortholog for PSD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSD Gene

Gene Tree for PSD (if available)
Gene Tree for PSD (if available)

Paralogs for PSD Gene

(3) SIMAP similar genes for PSD Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PSD: view

Variants for PSD Gene

Sequence variations from dbSNP and Humsavar for PSD Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs371190206 uncertain-significance, Common variable immunodeficiency 10 102,402,252(-) C/G downstream_transcript_variant
rs397514331 pathogenic, Common variable immunodeficiency 1, Common variable immunodeficiency 10 102,402,144(-) AA/A downstream_transcript_variant
rs397514332 pathogenic, not specified, Common variable immunodeficiency 10 102,402,138(-) C/G/T downstream_transcript_variant
rs727502786 pathogenic, Common variable immunodeficiency 10 102,402,137(-) CCGAGACA/ downstream_transcript_variant
rs727502787 pathogenic, Common variable immunodeficiency 10 102,402,267(-) A/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PSD Gene

Variant ID Type Subtype PubMed ID
nsv951006 CNV deletion 24416366
nsv552058 CNV loss 21841781
nsv525546 CNV loss 19592680
nsv1159761 CNV deletion 26073780

Variation tolerance for PSD Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSD Gene

Disorders for PSD Gene

MalaCards: The human disease database

(1) MalaCards diseases for PSD Gene - From: DISEASES

Disorder Aliases PubMed IDs
branch retinal artery occlusion
  • arterial retinal branch occlusion
- elite association - COSMIC cancer census association via MalaCards
Search PSD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PSD

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PSD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSD Gene

Publications for PSD Gene

  1. Identification of a novel gene, PSD, adjacent to NFKB2/lyt-10, which contains Sec7 and pleckstrin-homology domains. (PMID: 9417912) Perletti L … Neri A (Genomics 1997) 2 3 4 58
  2. EFA6 activates Arf6 and participates in its targeting to the Flemming body during cytokinesis. (PMID: 23603394) Ueda T … Nakayama K (FEBS letters 2013) 3 4 58
  3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 44 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  5. Class I Arfs (Arf1 and Arf3) and Arf6 are localized to the Flemming body and play important roles in cytokinesis. (PMID: 26330566) Hanai A … Nakayama K (Journal of biochemistry 2016) 3 58

Products for PSD Gene

Sources for PSD Gene

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