• Gene id: 23550

Gene Summary

• Gene Symbol: PSD4   Gene   UCSC   Ensembl
• Aliases: EFA6B, TIC
• Gene name: pleckstrin and Sec7 domain containing 4
• Alternate names: PH and SEC7 domain-containing protein 4, ADP-ribosylation factor guanine nucleotide-exchange factor 6, SEC7 homolog, exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B, exchange factor for ADP-ribosylation factor guanine nucleotide fact,
• Gene location: 2q14.1 (113157398: 113209390)     Exons: 18     NC_000002.12
• OMIM: 605091

Protein Summary

• Protein general information: Q8NDX1  
  • Name: PH and SEC7 domain containing protein 4 (Exchange factor for ADP ribosylation factor guanine nucleotide factor 6 B) (Exchange factor for ARF6 B) (Pleckstrin homology and SEC7 domain containing protein 4) (Telomeric of interleukin 1 cluster protein)
  • Length: 1056  
  • Mass: 116249
  • Tissue specificity: Widely expressed. Highest levels of expression are found in placenta, pancreas, spleen, thymus and peripheral blood. {ECO
• Sequence:

  MMGDYRLPDHPQPMEILNLYLGDSLEPHPGECPRETCSHEDPPEPFEEQTWATDPPEPTRQNVPPWGSGVELTHL
  GSWVHQDGLEPCQEQTRATDPPESTRQDAPPWGSGVELTHLGSPSAQREHRQNTASPGSPVNSHLPGSPKQNRST
  STQVVFWAGILQAQMCVLDLEEELEKTEGLKAGLKCCLPTPPVDLPGDTGLHSSPPENEDSGEDSSEPEGEGQAW
  LREGTPDSSPQWGAEEESMFFSNPLFLASPCSENSASGECFSWGASDSHAGVRTGPESPATLEPPLPEDTVLWEL
  ESEPDLGDGAAISGHCTPPFPVPIYKPHSICWASVAAAEGAPAAPPGHGESEGDRLGPAPSAAPCVDEALTWESG
  CVGSDLGPAAHPVQPWASLSPEGWQRGGPFWPQVTLNSQDRDEREGGHPQESLPCTLAPCPWRSPASSPEPSSPE
  SESRGPGPRPSPASSQEGSPQLQHHSSGILPKWTLDASQSSLLETDGEQPSSLKKKEAGEAPKPGEEVKSEGTAR
  PAETGDVQPDIHLTSAEHENLRTPMNSSWLPGSPMPQAQSPEEGQRPPAGDKLANGVRNNKVAWNLASRLYRLEG
  FRKSEVAAYLQKNNDFSRAVAEEYLSFFQFGGQSLDRALRSFLQALVLSGETQERERILYQFSRRFHHCNPGIFP
  SVDSVHTLTCAIMLLNTDLHGQNIGKSMSCQEFITNLNGLRDGGNFPKELLKALYWSIRSEKLEWAVDEEDTARP
  EKAQPSLPAGKMSKPFLQLAQDPTVPTYKQGILARKMHQDADGKKTPWGKRGWKMFHTLLRGMVLYFLKQGEDHC
  LEGESLVGQMVDEPVGVHHSLATPATHYTKKPHVFQLRTADWRLYLFQAPTAKEMSSWIARINLAAATHSAPPFP
  AAVGSQRRFVRPILPVGPAQSSLEEQHRSHENCLDAAADDLLDLQRNLPERRGRGRELEEHRLRKEYLEYEKTRY
  ETYVQLLVARLHCPSDALDLWEEQLGREAGGTREPKLSLKKSHSSPSLHQDEAPTTAKVKRNISERRTYRKIIPK
  RNRNQL

• Structural information:
  • Protein Domains: (544..73-)
    (/note="SEC7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00189-)
    (776..89-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR041681  IPR001605  IPR001849  IPR023394   IPR000904  IPR035999  
  • Prosite: PS50003 PS50190
  • CDD: cd00171
  • STRING: ENSP00000245796
• Other Databases: GeneCards:  PSD4  Malacards:  PSD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032587	ruffle membrane	IBA	cellular component
GO:0032587	ruffle membrane	IDA	cellular component
GO:0032154	cleavage furrow	IDA	NOT|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:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881