• Gene id: 23362

Gene Summary

• Gene Symbol: PSD3   Gene   UCSC   Ensembl
• Aliases: EFA6D, EFA6R, HCA67
• Gene name: pleckstrin and Sec7 domain containing 3
• Alternate names: PH and SEC7 domain-containing protein 3, ADP-ribosylation factor guanine nucleotide factor 6, epididymis tissue protein Li 20mP, exchange factor for ADP-ribosylation factor guanine nucleotide factor 6, exchange factor for ADP-ribosylation factor guanine nucle,
• Gene location: 8p22 (19086908: 18527302)     Exons: 29     NC_000008.11
• OMIM: 614440

Protein Summary

• Protein general information: Q9NYI0  
  • Name: PH and SEC7 domain containing protein 3 (Epididymis tissue protein Li 20mP) (Exchange factor for ADP ribosylation factor guanine nucleotide factor 6 D) (Exchange factor for ARF6 D) (Hepatocellular carcinoma associated antigen 67) (Pleckstrin homology and
  • Length: 1048  
  • Mass: 116034
  • Tissue specificity: Isoform 2 is expressed in epididymis (at protein level). {ECO
• Sequence:

  MEGRSAAAETFVWVNNASAHSQSVAKAKYEFLFGRSEGKAPDTSDHGGSTLLPPNVTNEFPEYGTMEEGGEGLRA
  SLEFDGEALPCHPQEQQGVQPLTGCHSGLDSVTEGPKDVREAPSQSHLKEQSLQPIDSLISALKATEARIISGTL
  QATKVLDQDAVSSFSVQQVEKELDTASRKTQRVNKTLPAGQKNLPEIPLSAEVTTEESFYLSIQKDLTALLTGDT
  QAEISQIMNNGRKGAVCVQEPSCPLASLGSSAVTCHSAGSVGFLKEQRSALGREHPGGCDRSSSMGRPGRVKHVE
  FQGVEILWTGGDKRETQHPIDFETSLQRTASPDSKESSKVPRHLISSAGLCNSSSLTENVWDESWKAPSERPGTS
  SGTFSPVRLDESGEDEVFLQENKQHLEKTPKPERDRERISEQEEHVKGEDEDILGPGYTEDSTDVYSSQFETILD
  NTSLYYSAESLETLYSEPDSYFSFEMPLTPMIQQRIKEGGQFLERTSGGGHQDILSVSADGGIVMGYSSGVTNGL
  NDASDSIYTKGTPEIAFWGSNAGVKTTRLEAHSEMGSTEILEKETPENLSNGTSSNVEAAKRLAKRLYQLDRFKR
  SDVAKHLGKNNEFSKLVAEEYLKFFDFTGMTLDQSLRYFFKAFSLVGETQERERVLIHFSNRYFYCNPDTIASQD
  GVHCLTCAIMLLNTDLHGHVNIGKKMTCQEFIANLQGVNEGVDFSKDLLKALYNSIKNEKLEWAVDDEEKKKSPS
  ESTEEKANGTHPKTISRIGSTTNPFLDIPHDPNAAVYKSGFLARKIHADMDGKKTPRGKRGWKTFYAVLKGTVLY
  LQKDEYKPEKALSEEDLKNAVSVHHALASKATDYEKKPNVFKLKTADWRVLLFQTQSPEEMQGWINKINCVAAVF
  SAPPFPAAIGSQKKFSRPLLPATTTKLSQEEQLKSHESKLKQITTELAEHRSYPPDKKVKAKDVDEYKLKDHYLE
  FEKTRYEMYVSILKEGGKELLSNDESEAAGLKKSHSSPSLNPDTSPITAKVKRNVSERKDHRPETPSIKQKVT

• Structural information:
  • Protein Domains: (534..73-)
    (/note="SEC7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00189-)
    (785..89-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR041681  IPR001849  IPR023394  IPR000904   IPR035999  
  • Prosite: PS50003 PS50190
  • CDD: cd00171
  • STRING: ENSP00000324127
• Other Databases: GeneCards:  PSD3  Malacards:  PSD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0032587	ruffle membrane	IBA	cellular component
GO:0032587	ruffle membrane	ISS	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:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray