• Gene id: 6453

Gene Summary

• Gene Symbol: ITSN1   Gene   UCSC   Ensembl
• Aliases: ITSN, SH3D1A, SH3P17
• Gene name: intersectin 1
• Alternate names: intersectin-1, SH3 domain-containing protein 1A, Src homology 3 domain-containing protein, human intersectin-SH3 domain-containing protein SH3P17, intersectin 1 (SH3 domain protein), intersectin 1 short form variant 3, intersectin 1 short form variant, 11, inter,
• Gene location: 21q22.11 (33642451: 33899860)     Exons: 43     NC_000021.9
• Gene summary(Entrez): The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles

Protein Summary

• Protein general information: Q15811  
  • Name: Intersectin 1 (SH3 domain containing protein 1A) (SH3P17)
  • Length: 1721  
  • Mass: 195422
  • Tissue specificity: Isoform 1 is expressed almost exclusively in the brain. Isoform 2 is detected in brain, spleen, lung, liver, heart, skeletal muscle and kidney. Isoform 5 is primarily expressed in brain, spleen, lung and kidney (at protein level) (PubM
• Sequence:

  MAQFPTPFGGSLDIWAITVEERAKHDQQFHSLKPISGFITGDQARNFFFQSGLPQPVLAQIWALADMNNDGRMDQ
  VEFSIAMKLIKLKLQGYQLPSALPPVMKQQPVAISSAPAFGMGGIASMPPLTAVAPVPMGSIPVVGMSPTLVSSV
  PTAAVPPLANGAPPVIQPLPAFAHPAATLPKSSSFSRSGPGSQLNTKLQKAQSFDVASVPPVAEWAVPQSSRLKY
  RQLFNSHDKTMSGHLTGPQARTILMQSSLPQAQLASIWNLSDIDQDGKLTAEEFILAMHLIDVAMSGQPLPPVLP
  PEYIPPSFRRVRSGSGISVISSTSVDQRLPEEPVLEDEQQQLEKKLPVTFEDKKRENFERGNLELEKRRQALLEQ
  QRKEQERLAQLERAEQERKERERQEQERKRQLELEKQLEKQRELERQREEERRKEIERREAAKRELERQRQLEWE
  RNRRQELLNQRNKEQEDIVVLKAKKKTLEFELEALNDKKHQLEGKLQDIRCRLTTQRQEIESTNKSRELRIAEIT
  HLQQQLQESQQMLGRLIPEKQILNDQLKQVQQNSLHRDSLVTLKRALEAKELARQHLRDQLDEVEKETRSKLQEI
  DIFNNQLKELREIHNKQQLQKQKSMEAERLKQKEQERKIIELEKQKEEAQRRAQERDKQWLEHVQQEDEHQRPRK
  LHEEEKLKREESVKKKDGEEKGKQEAQDKLGRLFHQHQEPAKPAVQAPWSTAEKGPLTISAQENVKVVYYRALYP
  FESRSHDEITIQPGDIVMVKGEWVDESQTGEPGWLGGELKGKTGWFPANYAEKIPENEVPAPVKPVTDSTSAPAP
  KLALRETPAPLAVTSSEPSTTPNNWADFSSTWPTSTNEKPETDNWDAWAAQPSLTVPSAGQLRQRSAFTPATATG
  SSPSPVLGQGEKVEGLQAQALYPWRAKKDNHLNFNKNDVITVLEQQDMWWFGEVQGQKGWFPKSYVKLISGPIRK
  STSMDSGSSESPASLKRVASPAAKPVVSGEEFIAMYTYESSEQGDLTFQQGDVILVTKKDGDWWTGTVGDKAGVF
  PSNYVRLKDSEGSGTAGKTGSLGKKPEIAQVIASYTATGPEQLTLAPGQLILIRKKNPGGWWEGELQARGKKRQI
  GWFPANYVKLLSPGTSKITPTEPPKSTALAAVCQVIGMYDYTAQNDDELAFNKGQIINVLNKEDPDWWKGEVNGQ
  VGLFPSNYVKLTTDMDPSQQWCSDLHLLDMLTPTERKRQGYIHELIVTEENYVNDLQLVTEIFQKPLMESELLTE
  KEVAMIFVNWKELIMCNIKLLKALRVRKKMSGEKMPVKMIGDILSAQLPHMQPYIRFCSRQLNGAALIQQKTDEA
  PDFKEFVKRLAMDPRCKGMPLSSFILKPMQRVTRYPLIIKNILENTPENHPDHSHLKHALEKAEELCSQVNEGVR
  EKENSDRLEWIQAHVQCEGLSEQLVFNSVTNCLGPRKFLHSGKLYKAKSNKELYGFLFNDFLLLTQITKPLGSSG
  TDKVFSPKSNLQYKMYKTPIFLNEVLVKLPTDPSGDEPIFHISHIDRVYTLRAESINERTAWVQKIKAASELYIE
  TEKKKREKAYLVRSQRATGIGRLMVNVVEGIELKPCRSHGKSNPYCEVTMGSQCHITKTIQDTLNPKWNSNCQFF
  IRDLEQEVLCITVFERDQFSPDDFLGRTEIRVADIKKDQGSKGPVTKCLLLHEVPTGEIVVRLDLQLFDEP

• Structural information:
  • Protein Domains: (21..10-)
    (/note="EH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (53..8-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (221..31-)
    (/note="EH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR035899  IPR000219  IPR011992   IPR018247  IPR002048  IPR000261  IPR001331  IPR011993  IPR001849  IPR036028  IPR001452  
  • Prosite: PS50004 PS00741 PS50010 PS00018 PS50222 PS50031 PS50003 PS50002
  • CDD: cd00052 cd00160
  • PDB: 1KI1 2KGR 2KHN 3FIA 3QBV 4IIM 5HZI 5HZJ 5HZK 6GBU 6H5T
  • PDBsum: 1KI1 2KGR 2KHN 3FIA 3QBV 4IIM 5HZI 5HZJ 5HZK 6GBU 6H5T
  • DIP: 33609
  • STRING: ENSP00000370719
• Other Databases: GeneCards:  ITSN1  Malacards:  ITSN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006897	endocytosis	IBA	biological process
GO:0016197	endosomal transport	IBA	biological process
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0150007	clathrin-dependent synaptic vesicle endocytosis	IBA	biological process
GO:0005905	clathrin-coated pit	IBA	cellular component
GO:0005905	clathrin-coated pit	IDA	colocalizes with
GO:0034613	cellular protein localization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
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:0005905	clathrin-coated pit	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0097708	intracellular vesicle	IEA	cellular component
GO:0097440	apical dendrite	IEA	cellular component
GO:0060999	positive regulation of dendritic spine development	IEA	biological process
GO:0060124	positive regulation of growth hormone secretion	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0098833	presynaptic endocytic zone	IEA	cellular component
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0048488	synaptic vesicle endocytosis	IEA	biological process
GO:0044305	calyx of Held	IEA	cellular component
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0030139	endocytic vesicle	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0019209	kinase activator activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:2001288	positive regulation of caveolin-mediated endocytosis	IEA	biological process
GO:1905274	regulation of modification of postsynaptic actin cytoskeleton	IEA	biological process
GO:0098871	postsynaptic actin cytoskeleton	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0033674	positive regulation of kinase activity	IEA	biological process
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0060090	molecular adaptor activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	NAS	molecular function
GO:0005509	calcium ion binding	NAS	molecular function
GO:0070064	proline-rich region binding	IPI	molecular function

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