• Gene id: 94056

Gene Summary

• Gene Symbol: SYAP1   Gene   UCSC   Ensembl
• Aliases: BSTA, PRO3113
• Gene name: synapse associated protein 1
• Alternate names: synapse-associated protein 1, BSD domain-containing signal transducer and Akt interactor protein, SAP47 homolog, synapse associated protein 1, SAP47 homolog,
• Gene location: Xp22.2 (16719611: 16765339)     Exons: 3     NC_000023.11

Protein Summary

• Protein general information: Q96A49  
  • Name: Synapse associated protein 1 (BSD domain containing signal transducer and Akt interactor protein) (BSTA)
  • Length: 352  
  • Mass: 39933
  • Tissue specificity: Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed
• Sequence:

  MFRGLSSWLGLQQPVAGGGQPNGDAPPEQPSETVAESAEEELQQAGDQELLHQAKDFGNYLFNFASAATKKITES
  VAETAQTIKKSVEEGKIDGIIDKTIIGDFQKEQKKFVEEQHTKKSEAAVPPWVDTNDEETIQQQILALSADKRNF
  LRDPPAGVQFNFDFDQMYPVALVMLQEDELLSKMRFALVPKLVKEEVFWRNYFYRVSLIKQSAQLTALAAQQQAA
  GKEEKSNGREQDLPLAEAVRPKTPPVVIKSQLKTQEDEEEISTSPGVSEFVSDAFDACNLNQEDLRKEMEQLVLD
  KKQEETAVLEEDSADWEKELQQELQEYEVVTESEKRDENWDKEIEKMLQEEN

• Structural information:
  • Protein Domains: (158..21-)
    (/note="BSD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00036"-)
  • Interpro: IPR005607  IPR035925  
  • Prosite: PS50858
  • PDB: 1X3A
  • PDBsum: 1X3A
  • STRING: ENSP00000369500
• Other Databases: GeneCards:  SYAP1  Malacards:  SYAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IDA	cellular component
GO:0036120	cellular response to platelet-derived growth factor stimulus	IMP	biological process
GO:0045600	positive regulation of fat cell differentiation	IMP	biological process
GO:0032869	cellular response to insulin stimulus	IMP	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030424	axon	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1990314	cellular response to insulin-like growth factor stimulus	IMP	biological process
GO:0038203	TORC2 signaling	IMP	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IMP	biological process
GO:0071364	cellular response to epidermal growth factor stimulus	IMP	biological process
GO:0045211	postsynaptic membrane	ISS	cellular component
GO:0043204	perikaryon	ISS	cellular component
GO:0030426	growth cone	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	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:0005794	Golgi apparatus	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0045600	positive regulation of fat cell differentiation	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0038203	TORC2 signaling	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0071364	cellular response to epidermal growth factor stimulus	IEA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881