PSD (pleckstrin and Sec7 domain containing)

Gene

• Entrez ID: 5662
• Gene name: Pleckstrin and Sec7 domain containing
• Gene symbol: PSD
• Synonyms (NCBI Gene): EFA6, EFA6A, PSD1, TYL
• Chromosome: 10
• Chromosome location: 10q24.32
• Summary: 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 m

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2305435	hsa-miR-214	CLIP-seq
MIRT2305436	hsa-miR-3619-5p	CLIP-seq
MIRT2305437	hsa-miR-4291	CLIP-seq
MIRT2305438	hsa-miR-761	CLIP-seq
MIRT2305439	hsa-miR-922	CLIP-seq
MIRT2393128	hsa-miR-4530	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	23603394
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	20339350
GO:0005543	Function	Phospholipid binding	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	NAS	9417912
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0032012	Process	Regulation of ARF protein signal transduction	IEA
GO:0032154	Component	Cleavage furrow	IDA	23603394
GO:0032154	Component	Cleavage furrow	IEA
GO:0032587	Component	Ruffle membrane	IDA	23603394
GO:0032587	Component	Ruffle membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0099092	Component	Postsynaptic density, intracellular component	IEA

Other IDs

• MIM: 602327
• HGNC: 9507
• e!Ensembl: ENSG00000059915

Protein

• UniProt ID: A5PKW4
• Protein name: PH and SEC7 domain-containing protein 1 (Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6) (Exchange factor for ARF6) (Exchange factor for ARF6 A) (Pleckstrin homology and SEC7 domain-containing protein 1)
• Protein function: Guanine nucleotide exchange factor for ARF6 (PubMed:23603394). Induces cytoskeletal remodeling (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01369	Sec7	539 → 708	Sec7 domain	Domain
  PF00169	PH	757 → 869	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 2 is expressed in the brain. {ECO:0000269|PubMed:9417912}.
• Sequence:

  MAQGAMRFCSEGDCAISPPRCPRRWLPEGPVPQSPPASMYGSTGSLLRRVAGPGPRGREL
  GRVTAPCTPLRGPPSPRVAPSPWAPSSPTGQPPPGAQSSVVIFRFVEKASVRPLNGLPAP
  GGLSRSWDLGGVSPPRPTPALGPGSNRKLRLEASTSDPLPARGGSALPGSRNLVHGPPAP
  PQVGADGLYSSLPNGLGGPPERLATLFGGPADTGFLNQGDTWSSPREVSSHAQRIARAKW
  EFFYGSLDPPSSGAKPPEQAPPSPPGVGSRQGSGVAVGRAAKYSETDLDTVPLRCYRETD
  IDEVLAEREEADSAIESQPSSEGPPGTAYPPAPRPGPLPGPHPSLGSGNEDEDDDEAGGE
  EDVDDEVFEASEGARPGSRMPLKSPVPFLPGTSPSADGPDSFSCVFEAILESHRAKGTSY
  TSLASLEALASPGPTQSPFFTFELPPQPPAPRPDPPAPAPLAPLEPDSGTSSAADGPWTQ
  RGEEEEAEARAKLAPGREPPSPCHSEDSLGLGAAPLGSEPPLSQLVSDSDSELDSTERLA
  LGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVF
  TGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLL
  NTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRS
  LSELADPNPKVIKRISGGSGSGSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGK
  RGWKSFHGILKGMILYLQKEEYKPGKALSETELKNAISIHHALATRASDYSKRPHVFYLR
  TADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQ
  EEQVRTHEAKLKAMASELREHRAAQLGKKGRGKEAEEQRQKEAYLEFEKSRYSTYAALLR
  VKLKAGSEELDAVEAALAQAGSTEDGLPPSHSSPSLQPKPSSQPRAQRHSSEPRPGAGSG
  RRKP

• Sequence length: 1024

Pathways

KEGG:

Endocytosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations