• Gene id: 29993

Gene Summary

• Gene Symbol: PACSIN1   Gene   UCSC   Ensembl
• Aliases: SDPI
• Gene name: protein kinase C and casein kinase substrate in neurons 1
• Alternate names: protein kinase C and casein kinase substrate in neurons protein 1, syndapin I, syndapin-1,
• Gene location: 6p21.31 (34466075: 34536261)     Exons: 12     NC_000006.12
• OMIM: 300374

Protein Summary

• Protein general information: Q9BY11  
  • Name: Protein kinase C and casein kinase substrate in neurons protein 1 (Syndapin 1)
  • Length: 444  
  • Mass: 50966
  • Tissue specificity: Highly expressed in brain and, at much lower levels, in heart and pancreas. {ECO
• Sequence:

  MSSSYDEASLAPEETTDSFWEVGNYKRTVKRIDDGHRLCNDLMNCVQERAKIEKAYGQQLTDWAKRWRQLIEKGP
  QYGSLERAWGAIMTEADKVSELHQEVKNNLLNEDLEKVKNWQKDAYHKQIMGGFKETKEAEDGFRKAQKPWAKKM
  KELEAAKKAYHLACKEEKLAMTREMNSKTEQSVTPEQQKKLQDKVDKCKQDVQKTQEKYEKVLEDVGKTTPQYME
  NMEQVFEQCQQFEEKRLVFLKEVLLDIKRHLNLAENSSYIHVYRELEQAIRGADAQEDLRWFRSTSGPGMPMNWP
  QFEEWNPDLPHTTTKKEKQPKKAEGVALTNATGAVESTSQAGDRGSVSSYDRGQPYATEWSDDESGNPFGGSETN
  GGANPFEDDSKGVRVRALYDYDGQEQDELSFKAGDELTKLGEEDEQGWCRGRLDSGQLGLYPANYVEAI

• Structural information:
  • Protein Domains: (13..28-)
    (/note="F-BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01077-)
    (385..44-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR031160  IPR001060  IPR028518  IPR035743   IPR037454  IPR036028  IPR001452  
  • Prosite: PS51741 PS50002
  • CDD: cd07680 cd11998
  • PDB: 3HAH 3HAI 3Q84 3QNI
  • PDBsum: 3HAH 3HAI 3Q84 3QNI
  • STRING: ENSP00000484060
• Other Databases: GeneCards:  PACSIN1  Malacards:  PACSIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1900006	positive regulation of dendrite development	IBA	biological process
GO:0008092	cytoskeletal protein binding	IBA	molecular function
GO:0007010	cytoskeleton organization	IBA	biological process
GO:0005768	endosome	IBA	cellular component
GO:0097320	plasma membrane tubulation	IBA	biological process
GO:0048812	neuron projection morphogenesis	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:0097320	plasma membrane tubulation	IDA	biological process
GO:0005543	phospholipid binding	IDA	molecular function
GO:0032587	ruffle membrane	ISS	cellular component
GO:0072657	protein localization to membrane	ISS	biological process
GO:0048812	neuron projection morphogenesis	ISS	biological process
GO:0048488	synaptic vesicle endocytosis	ISS	biological process
GO:0043679	axon terminus	ISS	cellular component
GO:0007015	actin filament organization	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0097320	plasma membrane tubulation	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
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:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0032587	ruffle membrane	IEA	cellular component
GO:0045806	negative regulation of endocytosis	IEA	biological process
GO:0005543	phospholipid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030137	COPI-coated vesicle	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0048488	synaptic vesicle endocytosis	IEA	biological process
GO:0072657	protein localization to membrane	IEA	biological process
GO:0097320	plasma membrane tubulation	IEA	biological process
GO:0098684	photoreceptor ribbon synapse	IEA	cellular component
GO:0098833	presynaptic endocytic zone	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:1900006	positive regulation of dendrite development	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	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