• Gene id: 5662

Gene Summary

• Gene Symbol: PSD   Gene   UCSC   Ensembl
• Aliases: EFA6, EFA6A, PSD1, TYL
• Gene name: pleckstrin and Sec7 domain containing
• Alternate names: 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, pleckstrin-Sec7 domains-containing,
• Gene location: 10q24.32 (102420163: 102402616)     Exons: 22     NC_000010.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: A5PKW4  
  • 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)
  • Length: 1024  
  • Mass: 109543
  • Tissue specificity: Isoform 2 is expressed in the brain. {ECO
• Sequence:

  MAQGAMRFCSEGDCAISPPRCPRRWLPEGPVPQSPPASMYGSTGSLLRRVAGPGPRGRELGRVTAPCTPLRGPPS
  PRVAPSPWAPSSPTGQPPPGAQSSVVIFRFVEKASVRPLNGLPAPGGLSRSWDLGGVSPPRPTPALGPGSNRKLR
  LEASTSDPLPARGGSALPGSRNLVHGPPAPPQVGADGLYSSLPNGLGGPPERLATLFGGPADTGFLNQGDTWSSP
  REVSSHAQRIARAKWEFFYGSLDPPSSGAKPPEQAPPSPPGVGSRQGSGVAVGRAAKYSETDLDTVPLRCYRETD
  IDEVLAEREEADSAIESQPSSEGPPGTAYPPAPRPGPLPGPHPSLGSGNEDEDDDEAGGEEDVDDEVFEASEGAR
  PGSRMPLKSPVPFLPGTSPSADGPDSFSCVFEAILESHRAKGTSYTSLASLEALASPGPTQSPFFTFELPPQPPA
  PRPDPPAPAPLAPLEPDSGTSSAADGPWTQRGEEEEAEARAKLAPGREPPSPCHSEDSLGLGAAPLGSEPPLSQL
  VSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVF
  TGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTC
  GDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRISGGSGSGSSPFLDLT
  PEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYKPGKALSETELKNAISIHHALAT
  RASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQ
  EEQVRTHEAKLKAMASELREHRAAQLGKKGRGKEAEEQRQKEAYLEFEKSRYSTYAALLRVKLKAGSEELDAVEA
  ALAQAGSTEDGLPPSHSSPSLQPKPSSQPRAQRHSSEPRPGAGSGRRKP

• Structural information:
  • Protein Domains: (512..70-)
    (/note="SEC7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00189-)
    (756..86-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR041681  IPR001605  IPR001849  IPR023394   IPR000904  IPR035999  
  • Prosite: PS50003 PS50190
  • CDD: cd00171
  • STRING: ENSP00000020673
• Other Databases: GeneCards:  PSD  Malacards:  PSD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0032587	ruffle membrane	IDA	cellular component
GO:0032154	cleavage furrow	IDA	cellular component
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0032012	regulation of ARF protein signal transduction	IEA	biological process
GO:0005543	phospholipid binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0099092	postsynaptic density, intracellular component	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0098999	extrinsic component of postsynaptic endosome membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0007165	signal transduction	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq