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Aliases for PSD Gene

Aliases for PSD Gene

  • Pleckstrin And Sec7 Domain Containing 2 3 5
  • Pleckstrin Homology And SEC7 Domain-Containing Protein 1 3 4
  • Exchange Factor For ARF6 3 4
  • EFA6 3 4
  • PSD1 3 4
  • TYL 3 4
  • Pleckstrin And Sec7 Domain Protein 2
  • Pleckstrin-Sec7 Domains-Containing 3
  • KIAA2011 4
  • EFA6A 3

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. GO annotations related to this gene include signal transducer activity and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is ENSG00000268465.

UniProtKB/Swiss-Prot for PSD Gene

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

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

Genomics for PSD Gene

Regulatory Elements for PSD Gene

Promoters for PSD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PSD on UCSC Golden Path with GeneCards custom track

Genomic Location for PSD Gene

Chromosome:
10
Start:
102,402,617 bp from pter
End:
102,421,539 bp from pter
Size:
18,923 bases
Orientation:
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:
    A5PKW4-PSD1_HUMAN
    Recommended name:
    PH and SEC7 domain-containing protein 1
    Protein Accession:
    A5PKW4
    Secondary Accessions:
    • B1AKX7
    • D3DR87
    • Q15673
    • Q8IVG0

    Protein attributes for PSD Gene

    Size:
    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).
    SequenceCaution:
    • Sequence=BAC23107.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PSD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSD Gene

Proteomics data for PSD Gene at MOPED

Post-translational modifications for PSD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PSD Gene

No data available for DME Specific Peptides for PSD Gene

Domains & Families for PSD Gene

Gene Families for PSD Gene

Protein Domains for PSD Gene

Suggested Antigen Peptide Sequences for PSD Gene

Graphical View of Domain Structure for InterPro Entry

A5PKW4

UniProtKB/Swiss-Prot:

PSD1_HUMAN :
  • Contains 1 PH domain.
  • Belongs to the PSD family.
Domain:
  • Contains 1 PH domain.
  • Contains 1 SEC7 domain.
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. Induces cytoskeletal remodeling (By similarity).

Gene Ontology (GO) - Molecular Function for PSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity IEA --
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

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSD Gene COMPARTMENTS Subcellular localization image for PSD gene
Compartment Confidence
plasma membrane 4
cytosol 3
nucleus 3
cytoskeleton 2
endosome 1

No data available for Gene Ontology (GO) - Cellular Components for PSD Gene

Pathways & Interactions for PSD Gene

SuperPathways for PSD Gene

Superpath 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

None

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:

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: - -
SP7:
SP8:
SP9: - - - - -
SP10: - - - -
SP11: - - -
SP12: - -
SP13:
SP14:
SP15:

ExUns: 17b ^ 18a · 18b · 18c · 18d ^ 19a · 19b ^ 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7: - -
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PSD Gene

GeneLoc Exon Structure for
PSD
ECgene alternative splicing isoforms for
PSD

Expression for PSD Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for PSD Gene Hs.154658

mRNA Expression by UniProt/SwissProt for PSD Gene

A5PKW4-PSD1_HUMAN
Tissue specificity: Isoform 2 is expressed in the brain.
genes like me logo Genes that share expression patterns with PSD: view

Protein tissue co-expression partners for PSD Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia PSD 35
  • 91.98 (n)
  • 93.84 (a)
PSD 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSD 35
  • 93.29 (n)
  • 95.31 (a)
PSD 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psd 35
  • 89.74 (n)
  • 92.55 (a)
Psd 16
Psd 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PSD 35
  • 98.48 (n)
  • 98.01 (a)
PSD 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psd 35
  • 89.47 (n)
  • 92.35 (a)
oppossum
(Monodelphis domestica)
Mammalia PSD 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSD 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSD 35
  • 67.37 (n)
  • 66.42 (a)
PSD 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSD 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psd 35
  • 62.06 (n)
  • 63.72 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33589 35
zebrafish
(Danio rerio)
Actinopterygii LOC570918 35
  • 65.08 (n)
  • 65.91 (a)
CABZ01075947.1 36
  • 23 (a)
OneToMany
PSD (1 of 3) 36
  • 54 (a)
OneToMany
PSD (2 of 3) 36
  • 29 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Efa6 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y55D9A.1a 37
  • 37 (a)
Y55D9A.1b 37
  • 37 (a)
efa-6 36
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GEA1 36
  • 7 (a)
ManyToMany
GEA2 36
  • 8 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for PSD:
  • 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

ENSEMBL:
Gene Tree for PSD (if available)
TreeFam:
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 Sequence Context AA Info Type
rs2282295 -- 102,415,138(-) AAGTA(C/T)TCCGA reference, synonymous-codon, utr-variant-5-prime
rs3781291 -- 102,406,709(-) GCTAA(A/C)ACGGT intron-variant
rs3781292 -- 102,406,707(-) TAAAA(C/T)GGTGA intron-variant
rs3781293 -- 102,406,500(-) AAAAG(A/G)AACAC intron-variant
rs4919635 -- 102,412,988(+) TTTGA(A/G)GGCAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv525546 CNV Loss 19592680
nsv895970 CNV Loss 21882294
dgv814n71 CNV Loss 21882294
dgv815n71 CNV Loss 21882294
dgv816n71 CNV Loss 21882294

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)

Relevant External Links for PSD Gene

HapMap Linkage Disequilibrium report
PSD

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

Relevant External Links for PSD

Genetic Association Database (GAD)
PSD
Human Genome Epidemiology (HuGE) Navigator
PSD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSD
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 67
  2. The Pleckstrin and Sec7 domain-containing gene as a novel epigenetic modification marker in human gastric cancer and its clinical significance. (PMID: 25355626) Zhu X. … Dai D. (Int. J. Oncol. 2015) 3
  3. EFA6 controls Arf1 and Arf6 activation through a negative feedback loop. (PMID: 25114232) Padovani D. … Cherfils J. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  4. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles R.A. … Easton D.F. (Nat. Genet. 2013) 3
  5. EFA6 activates Arf6 and participates in its targeting to the Flemming body during cytokinesis. (PMID: 23603394) Ueda T. … Nakayama K. (FEBS Lett. 2013) 3

Products for PSD Gene

Sources for PSD Gene

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