• Gene id: 29763

Gene Summary

• Gene Symbol: PACSIN3   Gene   UCSC   Ensembl
• Aliases: SDPIII
• Gene name: protein kinase C and casein kinase substrate in neurons 3
• Alternate names: protein kinase C and casein kinase substrate in neurons protein 3, SH3 domain-containing protein 6511, syndapin III,
• Gene location: 11p11.2 (47186445: 47177520)     Exons: 12     NC_000011.10
• Gene summary(Entrez): This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided
• OMIM: 611529

Protein Summary

• Protein general information: Q9UKS6  
  • Name: Protein kinase C and casein kinase substrate in neurons protein 3 (SH3 domain containing protein 6511)
  • Length: 424  
  • Mass: 48487
  • Tissue specificity: Widely expressed, with highest levels in heart and skeletal muscle, intermediate levels in placenta, liver and pancreas, and very low levels in brain, lung and kidney. {ECO
• Sequence:

  MAPEEDAGGEALGGSFWEAGNYRRTVQRVEDGHRLCGDLVSCFQERARIEKAYAQQLADWARKWRGTVEKGPQYG
  TLEKAWHAFFTAAERLSALHLEVREKLQGQDSERVRAWQRGAFHRPVLGGFRESRAAEDGFRKAQKPWLKRLKEV
  EASKKSYHAARKDEKTAQTRESHAKADSAVSQEQLRKLQERVERCAKEAEKTKAQYEQTLAELHRYTPRYMEDME
  QAFETCQAAERQRLLFFKDMLLTLHQHLDLSSSEKFHELHRDLHQGIEAASDEEDLRWWRSTHGPGMAMNWPQFE
  EWSLDTQRTISRKEKGGRSPDEVTLTSIVPTRDGTAPPPQSPGSPGTGQDEEWSDEESPRKAATGVRVRALYDYA
  GQEADELSFRAGEELLKMSEEDEQGWCQGQLQSGRIGLYPANYVECVGA

• Structural information:
  • Protein Domains: (10..28-)
    (/note="F-BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01077-)
    (363..42-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR031160  IPR001060  IPR028523  IPR036028   IPR001452  
  • Prosite: PS51741 PS50002
  • STRING: ENSP00000440945
• Other Databases: GeneCards:  PACSIN3  Malacards:  PACSIN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097320	plasma membrane tubulation	IBA	biological process
GO:0030100	regulation of endocytosis	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005543	phospholipid binding	IBA	molecular function
GO:0008092	cytoskeletal protein binding	IBA	molecular function
GO:0007010	cytoskeleton organization	IBA	biological process
GO:0005768	endosome	IBA	cellular component
GO:0008289	lipid binding	IDA	molecular function
GO:0097320	plasma membrane tubulation	IDA	biological process
GO:0051926	negative regulation of calcium ion transport	ISS	biological process
GO:0019855	calcium channel inhibitor activity	ISS	molecular function
GO:0097320	plasma membrane tubulation	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051926	negative regulation of calcium ion transport	IEA	biological process
GO:0045806	negative regulation of endocytosis	IEA	biological process
GO:0019855	calcium channel inhibitor activity	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0097320	plasma membrane tubulation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0051044	positive regulation of membrane protein ectodomain proteolysis	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045806	negative regulation of endocytosis	ISS	biological process
GO:0008092	cytoskeletal protein binding	ISS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005737	cytoplasm	ISS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq