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Aliases for PSD3 Gene

Aliases for PSD3 Gene

  • Pleckstrin And Sec7 Domain Containing 3 2 3 5
  • Exchange Factor For ADP-Ribosylation Factor Guanine Nucleotide Factor 6 3 4
  • Pleckstrin Homology And SEC7 Domain-Containing Protein 3 3 4
  • Hepatocellular Carcinoma-Associated Antigen 67 3 4
  • Epididymis Tissue Protein Li 20mP 3 4
  • EFA6R 3 4
  • HCA67 3 4
  • ADP-Ribosylation Factor Guanine Nucleotide Factor 6 3
  • KIAA0942 4
  • EFA6D 3

External Ids for PSD3 Gene

Previous GeneCards Identifiers for PSD3 Gene

  • GC00U916998
  • GC08M016929

Summaries for PSD3 Gene

GeneCards Summary for PSD3 Gene

PSD3 (Pleckstrin And Sec7 Domain Containing 3) is a Protein Coding gene. Among its related pathways are Endocytosis. GO annotations related to this gene include phospholipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is ENSG00000268465.

UniProtKB/Swiss-Prot for PSD3 Gene

  • Guanine nucleotide exchange factor for ARF6.

Gene Wiki entry for PSD3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSD3 Gene

Genomics for PSD3 Gene

Regulatory Elements for PSD3 Gene

Genomic Location for PSD3 Gene

Chromosome:
8
Start:
18,527,301 bp from pter
End:
19,086,921 bp from pter
Size:
559,621 bases
Orientation:
Minus strand

Genomic View for PSD3 Gene

Genes around PSD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSD3 Gene

Proteins for PSD3 Gene

  • Protein details for PSD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYI0-PSD3_HUMAN
    Recommended name:
    PH and SEC7 domain-containing protein 3
    Protein Accession:
    Q9NYI0
    Secondary Accessions:
    • A6NFQ4
    • E9KL50
    • Q6B003
    • Q9Y2F1

    Protein attributes for PSD3 Gene

    Size:
    1048 amino acids
    Molecular mass:
    116034 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF61269.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH75044.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH75045.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA76786.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PSD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSD3 Gene

Proteomics data for PSD3 Gene at MOPED

Post-translational modifications for PSD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PSD3 Gene

Domains & Families for PSD3 Gene

Gene Families for PSD3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NYI0

UniProtKB/Swiss-Prot:

PSD3_HUMAN :
  • Contains 1 PH domain.
Domain:
  • Contains 1 PH domain.
  • Contains 1 SEC7 domain.
genes like me logo Genes that share domains with PSD3: view

Function for PSD3 Gene

Molecular function for PSD3 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor for ARF6.

Gene Ontology (GO) - Molecular Function for PSD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005543 phospholipid binding IEA --
genes like me logo Genes that share ontologies with PSD3: view
genes like me logo Genes that share phenotypes with PSD3: view

Animal Model Products

miRNA for PSD3 Gene

miRTarBase miRNAs that target PSD3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSD3 Gene

Localization for PSD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSD3 Gene

Cell junction, synapse, postsynaptic cell membrane, postsynaptic density.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSD3 Gene COMPARTMENTS Subcellular localization image for PSD3 gene
Compartment Confidence
cytosol 3
nucleus 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PSD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with PSD3: view

Pathways & Interactions for PSD3 Gene

SuperPathways for PSD3 Gene

Superpath Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with PSD3: view

Pathways by source for PSD3 Gene

1 KEGG pathway for PSD3 Gene

Gene Ontology (GO) - Biological Process for PSD3 Gene

None

No data available for SIGNOR curated interactions for PSD3 Gene

Drugs & Compounds for PSD3 Gene

(3) Drugs for PSD3 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 PSD3: view

Transcripts for PSD3 Gene

Unigene Clusters for PSD3 Gene

Pleckstrin and Sec7 domain containing 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PSD3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: -
SP2: -
SP3:
SP4: -
SP5:
SP6: - -
SP7:
SP8:
SP9:

Relevant External Links for PSD3 Gene

GeneLoc Exon Structure for
PSD3
ECgene alternative splicing isoforms for
PSD3

Expression for PSD3 Gene

mRNA expression in normal human tissues for PSD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSD3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.3) and Brain - Cerebellum (x5.0).

Protein differential expression in normal tissues from HIPED for PSD3 Gene

This gene is overexpressed in Frontal cortex (38.5) and Brain (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSD3 Gene



SOURCE GeneReport for Unigene cluster for PSD3 Gene Hs.434255

mRNA Expression by UniProt/SwissProt for PSD3 Gene

Q9NYI0-PSD3_HUMAN
Tissue specificity: Isoform 2 is expressed in epididymis (at protein level).
genes like me logo Genes that share expression patterns with PSD3: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for PSD3 Gene

Orthologs for PSD3 Gene

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

Orthologs for PSD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSD3 35
  • 99.17 (n)
  • 99.04 (a)
PSD3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PSD3 36
  • 82 (a)
OneToOne
PSD3 35
  • 82.07 (n)
  • 81.8 (a)
dog
(Canis familiaris)
Mammalia PSD3 35
  • 86.76 (n)
  • 84.27 (a)
PSD3 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psd3 16
Psd3 35
  • 88.22 (n)
  • 93.78 (a)
Psd3 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 65 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
-- 36
  • 60 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Psd3 35
  • 82.38 (n)
  • 81.18 (a)
chicken
(Gallus gallus)
Aves PSD3 35
  • 67.58 (n)
  • 62.39 (a)
PSD3 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSD3 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psd3 35
  • 67.47 (n)
  • 65.98 (a)
Str.16491 35
zebrafish
(Danio rerio)
Actinopterygii psd3l 36
  • 55 (a)
OneToOne
psd3l 35
  • 67.95 (n)
  • 70.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta Efa6 36
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea efa-6 36
  • 28 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GEA1 36
  • 8 (a)
ManyToMany
GEA2 36
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for PSD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 PSD3 Gene

ENSEMBL:
Gene Tree for PSD3 (if available)
TreeFam:
Gene Tree for PSD3 (if available)

Paralogs for PSD3 Gene

genes like me logo Genes that share paralogs with PSD3: view

Variants for PSD3 Gene

Sequence variations from dbSNP and Humsavar for PSD3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs7016219 - 18,872,307(+) GGAGC(A/G)TTTTG nc-transcript-variant, reference, missense
rs7003060 - 18,872,308(+) GAGCG(G/T)TTTGT nc-transcript-variant, reference, missense
rs13263453 - 18,871,986(+) GGCCT(A/G)GGCGT nc-transcript-variant, reference, missense
rs9741 -- 18,527,546(-) AGTCA(C/T)CTGAT utr-variant-3-prime
rs168023 -- 18,928,171(+) gcggc(A/G)ccagg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSD3 Gene

Variant ID Type Subtype PubMed ID
nsv428196 CNV Gain 18775914
nsv831252 CNV Gain 17160897
nsv890605 CNV Loss 21882294
nsv890606 CNV Gain 21882294
nsv890607 CNV Gain 21882294
esv1011194 CNV Deletion 20482838
nsv521053 CNV Gain 19592680
esv1416189 CNV Deletion 17803354
esv989363 CNV Deletion 20482838
esv2190840 CNV Deletion 18987734
esv2531026 CNV Deletion 19546169
nsv512033 CNV Loss 21212237
esv5427 CNV Deletion 18987735
esv2736701 CNV Deletion 23290073
esv6653 CNV Loss 19470904
esv1660982 CNV Deletion 17803354
nsv519382 CNV Loss 19592680
nsv521368 CNV Loss 19592680
esv2736702 CNV Deletion 23290073
esv2675406 CNV Deletion 23128226
nsv507446 CNV Insertion 20534489
nsv890608 CNV Gain 21882294
nsv525714 CNV Loss 19592680
nsv890609 CNV Gain 21882294
nsv518488 CNV Loss 19592680
nsv520348 CNV Loss 19592680
esv2509063 CNV Insertion 19546169
esv269987 CNV Insertion 20981092
esv273886 CNV Insertion 20981092
nsv512034 CNV Loss 21212237
esv5150 CNV Deletion 18987735
esv2736703 CNV Deletion 23290073
esv998126 CNV Deletion 20482838
esv5821 CNV Loss 19470904
nsv6100 CNV Insertion 18451855
nsv527228 CNV Loss 19592680
nsv397362 CNV Loss 16902084
nsv519028 CNV Loss 19592680
nsv831253 CNV Gain 17160897
nsv519244 CNV Loss 19592680
esv997949 CNV Deletion 20482838
esv1270304 CNV Deletion 17803354
dgv7748n71 CNV Gain 21882294
nsv465596 CNV Gain 19166990
dgv7749n71 CNV Gain 21882294
nsv470201 CNV Gain 18288195
nsv831254 CNV Gain 17160897
nsv890612 CNV Loss 21882294
nsv831255 CNV Gain 17160897
esv25125 CNV Loss 19812545
nsv8309 CNV Loss 18304495
nsv526122 CNV Loss 19592680
essv8009 CNV CNV 17122850
nsv8310 CNV Loss 18304495
esv2659994 CNV Deletion 23128226
nsv442101 CNV CNV 18776908
nsv514482 CNV Loss 21397061
esv2676844 CNV Deletion 23128226
esv2421371 CNV Deletion 20811451
dgv878n27 CNV Loss 19166990
nsv517395 CNV Loss 19592680
nsv818614 CNV Loss 17921354
nsv519585 CNV Loss 19592680
esv32805 CNV Gain 17666407
essv14002 CNV CNV 17122850

Variation tolerance for PSD3 Gene

Residual Variation Intolerance Score: 56.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.03; 68.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSD3 Gene

HapMap Linkage Disequilibrium report
PSD3
Human Gene Mutation Database (HGMD)
PSD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSD3 Gene

Disorders for PSD3 Gene

Relevant External Links for PSD3

Genetic Association Database (GAD)
PSD3
Human Genome Epidemiology (HuGE) Navigator
PSD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSD3

No disorders were found for PSD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PSD3 Gene

Publications for PSD3 Gene

  1. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V. … Ndung'u T. (Clin. Infect. Dis. 2011) 3 48 67
  2. MxA interacts with and is modified by the SUMOylation machinery. (PMID: 25447205) Brantis-de-Carvalho C.E. … Valentini S.R. (Exp. Cell Res. 2015) 3
  3. Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes. (PMID: 24595857) Sandholm N. … Groop P.H. (Diabetologia 2014) 3
  4. Exchange factor EFA6R requires C-terminal targeting to the plasma membrane to promote cytoskeletal rearrangement through the activation of ADP-ribosylation factor 6 (ARF6). (PMID: 25296758) Kanamarlapudi V. (J. Biol. Chem. 2014) 3
  5. Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy. (PMID: 23776197) Leandro-GarcA-a L.J. … RodrA-guez-Antona C. (J. Med. Genet. 2013) 3

Products for PSD3 Gene

Sources for PSD3 Gene

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