Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6453
Gene name	Intersectin 1
Gene symbol	ITSN1
Synonyms (NCBI Gene)	ITSNSH3D1ASH3P17
Chromosome	21
Chromosome location	21q22.11
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs755276554	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

266

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miRTarBase ID	miRNA	Experiments	Reference
MIRT038428	hsa-miR-296-3p	CLASH	23622248
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT736682	hsa-miR-1226-5p	MicroarrayqRT-PCR	32655392
MIRT1075428	hsa-miR-1208	CLIP-seq
MIRT1075429	hsa-miR-1273e	CLIP-seq
MIRT1075430	hsa-miR-1304	CLIP-seq
MIRT1075431	hsa-miR-15a	CLIP-seq
MIRT1075432	hsa-miR-15b	CLIP-seq
MIRT1075433	hsa-miR-16	CLIP-seq
MIRT1075434	hsa-miR-181a	CLIP-seq
MIRT1075435	hsa-miR-181b	CLIP-seq
MIRT1075436	hsa-miR-181c	CLIP-seq
MIRT1075437	hsa-miR-181d	CLIP-seq
MIRT1075438	hsa-miR-195	CLIP-seq
MIRT1075439	hsa-miR-2115	CLIP-seq
MIRT1075440	hsa-miR-214	CLIP-seq
MIRT1075441	hsa-miR-218	CLIP-seq
MIRT1075442	hsa-miR-2467-5p	CLIP-seq
MIRT1075443	hsa-miR-3146	CLIP-seq
MIRT1075444	hsa-miR-3188	CLIP-seq
MIRT1075445	hsa-miR-329	CLIP-seq
MIRT1075446	hsa-miR-3607-5p	CLIP-seq
MIRT1075447	hsa-miR-3619-5p	CLIP-seq
MIRT1075448	hsa-miR-362-3p	CLIP-seq
MIRT1075449	hsa-miR-3941	CLIP-seq
MIRT1075450	hsa-miR-3974	CLIP-seq
MIRT1075451	hsa-miR-3975	CLIP-seq
MIRT1075452	hsa-miR-424	CLIP-seq
MIRT1075453	hsa-miR-4255	CLIP-seq
MIRT1075454	hsa-miR-4262	CLIP-seq
MIRT1075455	hsa-miR-4266	CLIP-seq
MIRT1075456	hsa-miR-4461	CLIP-seq
MIRT1075457	hsa-miR-4468	CLIP-seq
MIRT1075458	hsa-miR-4474-3p	CLIP-seq
MIRT1075459	hsa-miR-4677-3p	CLIP-seq
MIRT1075460	hsa-miR-4690-5p	CLIP-seq
MIRT1075461	hsa-miR-4695-5p	CLIP-seq
MIRT1075462	hsa-miR-4779	CLIP-seq
MIRT1075463	hsa-miR-4797-5p	CLIP-seq
MIRT1075464	hsa-miR-485-5p	CLIP-seq
MIRT1075465	hsa-miR-491-3p	CLIP-seq
MIRT1075466	hsa-miR-497	CLIP-seq
MIRT1075467	hsa-miR-603	CLIP-seq
MIRT1075468	hsa-miR-624	CLIP-seq
MIRT1075469	hsa-miR-636	CLIP-seq
MIRT1075470	hsa-miR-651	CLIP-seq
MIRT1075471	hsa-miR-761	CLIP-seq
MIRT1075472	hsa-miR-924	CLIP-seq
MIRT1075473	hsa-miR-1267	CLIP-seq
MIRT1075474	hsa-miR-1276	CLIP-seq
MIRT1075475	hsa-miR-203	CLIP-seq
MIRT1075476	hsa-miR-33a	CLIP-seq
MIRT1075477	hsa-miR-33b	CLIP-seq
MIRT1075478	hsa-miR-340	CLIP-seq
MIRT1075479	hsa-miR-4459	CLIP-seq
MIRT1075480	hsa-miR-4666-5p	CLIP-seq
MIRT1075481	hsa-miR-4729	CLIP-seq
MIRT1075462	hsa-miR-4779	CLIP-seq
MIRT1075482	hsa-miR-653	CLIP-seq
MIRT1075483	hsa-miR-676	CLIP-seq
MIRT2018743	hsa-miR-1226	CLIP-seq
MIRT2018744	hsa-miR-1284	CLIP-seq
MIRT2018745	hsa-miR-1587	CLIP-seq
MIRT2018746	hsa-miR-2277-3p	CLIP-seq
MIRT2018747	hsa-miR-3978	CLIP-seq
MIRT2018748	hsa-miR-4437	CLIP-seq
MIRT2018749	hsa-miR-4674	CLIP-seq
MIRT2018750	hsa-miR-4717-3p	CLIP-seq
MIRT1075463	hsa-miR-4797-5p	CLIP-seq
MIRT2018751	hsa-miR-548a-5p	CLIP-seq
MIRT2018752	hsa-miR-548ab	CLIP-seq
MIRT2018753	hsa-miR-548ak	CLIP-seq
MIRT2018754	hsa-miR-548b-5p	CLIP-seq
MIRT2018755	hsa-miR-548c-5p	CLIP-seq
MIRT2018756	hsa-miR-548d-5p	CLIP-seq
MIRT2018757	hsa-miR-548h	CLIP-seq
MIRT2018758	hsa-miR-548i	CLIP-seq
MIRT2018759	hsa-miR-548j	CLIP-seq
MIRT2018760	hsa-miR-548n	CLIP-seq
MIRT2018761	hsa-miR-548w	CLIP-seq
MIRT2018762	hsa-miR-548y	CLIP-seq
MIRT2018763	hsa-miR-559	CLIP-seq
MIRT2018764	hsa-miR-582-3p	CLIP-seq
MIRT2018765	hsa-miR-634	CLIP-seq
MIRT1075472	hsa-miR-924	CLIP-seq
MIRT2018743	hsa-miR-1226	CLIP-seq
MIRT2018744	hsa-miR-1284	CLIP-seq
MIRT2250623	hsa-miR-150	CLIP-seq
MIRT2018745	hsa-miR-1587	CLIP-seq
MIRT1075431	hsa-miR-15a	CLIP-seq
MIRT1075432	hsa-miR-15b	CLIP-seq
MIRT1075433	hsa-miR-16	CLIP-seq
MIRT1075438	hsa-miR-195	CLIP-seq
MIRT1075439	hsa-miR-2115	CLIP-seq
MIRT1075440	hsa-miR-214	CLIP-seq
MIRT2250624	hsa-miR-224	CLIP-seq
MIRT2250625	hsa-miR-2682	CLIP-seq
MIRT2250626	hsa-miR-3120-3p	CLIP-seq
MIRT2250627	hsa-miR-3158-3p	CLIP-seq
MIRT1075445	hsa-miR-329	CLIP-seq
MIRT1075447	hsa-miR-3619-5p	CLIP-seq
MIRT1075448	hsa-miR-362-3p	CLIP-seq
MIRT2250628	hsa-miR-3714	CLIP-seq
MIRT2250629	hsa-miR-3922-5p	CLIP-seq
MIRT1075449	hsa-miR-3941	CLIP-seq
MIRT1075452	hsa-miR-424	CLIP-seq
MIRT1075453	hsa-miR-4255	CLIP-seq
MIRT2250630	hsa-miR-4315	CLIP-seq
MIRT2250631	hsa-miR-4428	CLIP-seq
MIRT2250632	hsa-miR-4434	CLIP-seq
MIRT2018748	hsa-miR-4437	CLIP-seq
MIRT1075456	hsa-miR-4461	CLIP-seq
MIRT1075457	hsa-miR-4468	CLIP-seq
MIRT2250633	hsa-miR-449c	CLIP-seq
MIRT2250634	hsa-miR-4516	CLIP-seq
MIRT2250635	hsa-miR-4659a-3p	CLIP-seq
MIRT2250636	hsa-miR-4659b-3p	CLIP-seq
MIRT2018749	hsa-miR-4674	CLIP-seq
MIRT1075459	hsa-miR-4677-3p	CLIP-seq
MIRT1075460	hsa-miR-4690-5p	CLIP-seq
MIRT2250637	hsa-miR-4713-5p	CLIP-seq
MIRT2018750	hsa-miR-4717-3p	CLIP-seq
MIRT2250638	hsa-miR-4790-5p	CLIP-seq
MIRT1075466	hsa-miR-497	CLIP-seq
MIRT2250639	hsa-miR-510	CLIP-seq
MIRT2250640	hsa-miR-512-5p	CLIP-seq
MIRT2250641	hsa-miR-532-3p	CLIP-seq
MIRT2250642	hsa-miR-548v	CLIP-seq
MIRT1075467	hsa-miR-603	CLIP-seq
MIRT1075468	hsa-miR-624	CLIP-seq
MIRT2018765	hsa-miR-634	CLIP-seq
MIRT1075471	hsa-miR-761	CLIP-seq
MIRT2018743	hsa-miR-1226	CLIP-seq
MIRT2018765	hsa-miR-634	CLIP-seq
MIRT1075445	hsa-miR-329	CLIP-seq
MIRT1075448	hsa-miR-362-3p	CLIP-seq
MIRT1075449	hsa-miR-3941	CLIP-seq
MIRT1075467	hsa-miR-603	CLIP-seq
MIRT1075428	hsa-miR-1208	CLIP-seq
MIRT2554093	hsa-miR-1279	CLIP-seq
MIRT2018744	hsa-miR-1284	CLIP-seq
MIRT2554094	hsa-miR-136	CLIP-seq
MIRT2018745	hsa-miR-1587	CLIP-seq
MIRT1075434	hsa-miR-181a	CLIP-seq
MIRT1075435	hsa-miR-181b	CLIP-seq
MIRT1075436	hsa-miR-181c	CLIP-seq
MIRT1075437	hsa-miR-181d	CLIP-seq
MIRT2554095	hsa-miR-1909	CLIP-seq
MIRT2554096	hsa-miR-19a	CLIP-seq
MIRT2554097	hsa-miR-19b	CLIP-seq
MIRT2554098	hsa-miR-2278	CLIP-seq
MIRT2554099	hsa-miR-302f	CLIP-seq
MIRT2554100	hsa-miR-30a	CLIP-seq
MIRT2554101	hsa-miR-30b	CLIP-seq
MIRT2554102	hsa-miR-30c	CLIP-seq
MIRT2554103	hsa-miR-30d	CLIP-seq
MIRT2554104	hsa-miR-30e	CLIP-seq
MIRT2554105	hsa-miR-3130-3p	CLIP-seq
MIRT2554106	hsa-miR-3137	CLIP-seq
MIRT2554107	hsa-miR-3160-5p	CLIP-seq
MIRT2554108	hsa-miR-3163	CLIP-seq
MIRT1075445	hsa-miR-329	CLIP-seq
MIRT1075446	hsa-miR-3607-5p	CLIP-seq
MIRT2554109	hsa-miR-3619-3p	CLIP-seq
MIRT1075448	hsa-miR-362-3p	CLIP-seq
MIRT2554110	hsa-miR-3670	CLIP-seq
MIRT2554111	hsa-miR-3692	CLIP-seq
MIRT2554112	hsa-miR-3936	CLIP-seq
MIRT1075449	hsa-miR-3941	CLIP-seq
MIRT1075450	hsa-miR-3974	CLIP-seq
MIRT2018747	hsa-miR-3978	CLIP-seq
MIRT1075454	hsa-miR-4262	CLIP-seq
MIRT2554113	hsa-miR-4270	CLIP-seq
MIRT2554114	hsa-miR-4282	CLIP-seq
MIRT2250630	hsa-miR-4315	CLIP-seq
MIRT2554115	hsa-miR-4323	CLIP-seq
MIRT2554116	hsa-miR-4325	CLIP-seq
MIRT2018748	hsa-miR-4437	CLIP-seq
MIRT2554117	hsa-miR-4441	CLIP-seq
MIRT1075458	hsa-miR-4474-3p	CLIP-seq
MIRT2554118	hsa-miR-4495	CLIP-seq
MIRT2554119	hsa-miR-4517	CLIP-seq
MIRT2554120	hsa-miR-4539	CLIP-seq
MIRT2554121	hsa-miR-4668-5p	CLIP-seq
MIRT2018749	hsa-miR-4674	CLIP-seq
MIRT2554122	hsa-miR-4680-5p	CLIP-seq
MIRT2554123	hsa-miR-4716-3p	CLIP-seq
MIRT2554124	hsa-miR-4724-5p	CLIP-seq
MIRT2554125	hsa-miR-4756-3p	CLIP-seq
MIRT2554126	hsa-miR-4776-3p	CLIP-seq
MIRT2554127	hsa-miR-4786-5p	CLIP-seq
MIRT2250638	hsa-miR-4790-5p	CLIP-seq
MIRT2554128	hsa-miR-4793-3p	CLIP-seq
MIRT1075463	hsa-miR-4797-5p	CLIP-seq
MIRT2554129	hsa-miR-487b	CLIP-seq
MIRT2554130	hsa-miR-520f	CLIP-seq
MIRT2554131	hsa-miR-548ag	CLIP-seq
MIRT2554132	hsa-miR-548ai	CLIP-seq
MIRT2554133	hsa-miR-556-5p	CLIP-seq
MIRT2554134	hsa-miR-591	CLIP-seq
MIRT1075467	hsa-miR-603	CLIP-seq
MIRT1075468	hsa-miR-624	CLIP-seq
MIRT2554135	hsa-miR-625	CLIP-seq
MIRT2554136	hsa-miR-759	CLIP-seq
MIRT2554137	hsa-miR-769-5p	CLIP-seq
MIRT1075428	hsa-miR-1208	CLIP-seq
MIRT2554093	hsa-miR-1279	CLIP-seq
MIRT2018744	hsa-miR-1284	CLIP-seq
MIRT2554094	hsa-miR-136	CLIP-seq
MIRT2018745	hsa-miR-1587	CLIP-seq
MIRT2554095	hsa-miR-1909	CLIP-seq
MIRT2554096	hsa-miR-19a	CLIP-seq
MIRT2554097	hsa-miR-19b	CLIP-seq
MIRT2554098	hsa-miR-2278	CLIP-seq
MIRT2554099	hsa-miR-302f	CLIP-seq
MIRT2554100	hsa-miR-30a	CLIP-seq
MIRT2554101	hsa-miR-30b	CLIP-seq
MIRT2554102	hsa-miR-30c	CLIP-seq
MIRT2554103	hsa-miR-30d	CLIP-seq
MIRT2554104	hsa-miR-30e	CLIP-seq
MIRT2554105	hsa-miR-3130-3p	CLIP-seq
MIRT2554106	hsa-miR-3137	CLIP-seq
MIRT2554107	hsa-miR-3160-5p	CLIP-seq
MIRT2554108	hsa-miR-3163	CLIP-seq
MIRT1075445	hsa-miR-329	CLIP-seq
MIRT1075446	hsa-miR-3607-5p	CLIP-seq
MIRT2554109	hsa-miR-3619-3p	CLIP-seq
MIRT1075448	hsa-miR-362-3p	CLIP-seq
MIRT2554110	hsa-miR-3670	CLIP-seq
MIRT2554111	hsa-miR-3692	CLIP-seq
MIRT1075449	hsa-miR-3941	CLIP-seq
MIRT1075450	hsa-miR-3974	CLIP-seq
MIRT2018747	hsa-miR-3978	CLIP-seq
MIRT2554113	hsa-miR-4270	CLIP-seq
MIRT2554114	hsa-miR-4282	CLIP-seq
MIRT2250630	hsa-miR-4315	CLIP-seq
MIRT2554116	hsa-miR-4325	CLIP-seq
MIRT2018748	hsa-miR-4437	CLIP-seq
MIRT2554117	hsa-miR-4441	CLIP-seq
MIRT1075458	hsa-miR-4474-3p	CLIP-seq
MIRT2554118	hsa-miR-4495	CLIP-seq
MIRT2554119	hsa-miR-4517	CLIP-seq
MIRT2554120	hsa-miR-4539	CLIP-seq
MIRT2018749	hsa-miR-4674	CLIP-seq
MIRT2554122	hsa-miR-4680-5p	CLIP-seq
MIRT2554124	hsa-miR-4724-5p	CLIP-seq
MIRT2554125	hsa-miR-4756-3p	CLIP-seq
MIRT2554127	hsa-miR-4786-5p	CLIP-seq
MIRT2250638	hsa-miR-4790-5p	CLIP-seq
MIRT2554128	hsa-miR-4793-3p	CLIP-seq
MIRT1075463	hsa-miR-4797-5p	CLIP-seq
MIRT2554129	hsa-miR-487b	CLIP-seq
MIRT2554130	hsa-miR-520f	CLIP-seq
MIRT2554133	hsa-miR-556-5p	CLIP-seq
MIRT2554134	hsa-miR-591	CLIP-seq
MIRT1075467	hsa-miR-603	CLIP-seq
MIRT1075468	hsa-miR-624	CLIP-seq
MIRT2554136	hsa-miR-759	CLIP-seq
MIRT2554137	hsa-miR-769-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	NAS	9799604
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	NAS	9799604
GO:0005515	Function	Protein binding	IPI	10064583, 12006984, 12812986, 15231748, 16696976, 16914641, 18539136, 18654987, 18692052, 19166927, 20448150, 20946875, 21900206, 29887380, 31160551, 31413325, 32203420, 32315611, 33961781, 35044719, 35271311, 35914814
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	29599122
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	29599122
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20946875
GO:0005886	Component	Plasma membrane	IEA
GO:0005905	Component	Clathrin-coated pit	IDA	29887380
GO:0005905	Component	Clathrin-coated pit	IDA	20946875
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0008104	Process	Intracellular protein localization	IMP	29887380
GO:0010646	Process	Regulation of cell communication	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016197	Process	Endosomal transport	IBA
GO:0023051	Process	Regulation of signaling	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0055037	Component	Recycling endosome	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	20946875
GO:0060124	Process	Positive regulation of growth hormone secretion	IEA
GO:0060999	Process	Positive regulation of dendritic spine development	IEA
GO:0070064	Function	Proline-rich region binding	IPI	20946875
GO:0097440	Component	Apical dendrite	IEA
GO:0097708	Component	Intracellular vesicle	IBA
GO:0097708	Component	Intracellular vesicle	IEA
GO:0098843	Component	Postsynaptic endocytic zone	IEA
GO:0098871	Component	Postsynaptic actin cytoskeleton	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:0150007	Process	Clathrin-dependent synaptic vesicle endocytosis	IBA
GO:1905274	Process	Regulation of modification of postsynaptic actin cytoskeleton	IEA
GO:2001288	Process	Positive regulation of caveolin-mediated endocytosis	IEA

MIM	HGNC	e!Ensembl
602442	6183	ENSG00000205726

Q15811

Protein name

Intersectin-1 (SH3 domain-containing protein 1A) (SH3P17)

Protein function

Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as a guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleatio

PDB

1KI1 , 2KGR , 2KHN , 3FIA , 3QBV , 4IIM , 5HZI , 5HZJ , 5HZK , 6GBU , 6H5T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12763	EF-hand_4	16 → 108	Cytoskeletal-regulatory complex EF hand	Family
PF12763	EF-hand_4	216 → 312	Cytoskeletal-regulatory complex EF hand	Family
PF14604	SH3_9	747 → 802	Variant SH3 domain	Domain
PF16617	INTAP	803 → 917		Disordered
PF00018	SH3_1	919 → 963	SH3 domain	Domain
PF07653	SH3_2	1007 → 1057	Variant SH3 domain	Domain
PF07653	SH3_2	1078 → 1136	Variant SH3 domain	Domain
PF00018	SH3_1	1161 → 1206	SH3 domain	Domain
PF00621	RhoGEF	1241 → 1421	RhoGEF domain	Domain
PF16652	PH_13	1440 → 1593	Pleckstrin homology domain	Domain
PF00168	C2	1596 → 1696	C2 domain	Domain

Tissue specificity

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

MAQFPTPFGGSLDIWAITVEERAKHDQQFHSLKPISGFITGDQARNFFFQSGLPQPVLAQ
IWALADMNNDGRMDQVEFSIAMKLIKLKLQGYQLPSALPPVMKQQPVAISSAPAFGMGGI
ASMPPLTAVAPVPMGSIPVVGMSPTLVSSVPTAAVPPLANGAPPVIQPLPAFAHPAATLP
KSSSFSRSGPGSQLNTKLQKAQSFDVASVPPVAEWAVPQSSRLKYRQLFNSHDKTMSGHL
TGPQARTILMQSSLPQAQLASIWNLSDIDQDGKLTAEEFILAMHLIDVAMSGQPLPPVLP
PEYIPPSFRRVRSGSGISVISSTSVDQRLPEEPVLEDEQQQLEKKLPVTFEDKKRENFER
GNLELEKRRQALLEQQRKEQERLAQLERAEQERKERERQEQERKRQLELEKQLEKQRELE
RQREEERRKEIERREAAKRELERQRQLEWERNRRQELLNQRNKEQEDIVVLKAKKKTLEF
ELEALNDKKHQLEGKLQDIRCRLTTQRQEIESTNKSRELRIAEITHLQQQLQESQQMLGR
LIPEKQILNDQLKQVQQNSLHRDSLVTLKRALEAKELARQHLRDQLDEVEKETRSKLQEI
DIFNNQLKELREIHNKQQLQKQKSMEAERLKQKEQERKIIELEKQKEEAQRRAQERDKQW
LEHVQQEDEHQRPRKLHEEEKLKREESVKKKDGEEKGKQEAQDKLGRLFHQHQEPAKPAV
QAPWSTAEKGPLTISAQENVKVVYYRALYPFESRSHDEITIQPGDIVMVKGEWVDESQTG
EPGWLGGELKGKTGWFPANYAEKIPENEVPAPVKPVTDSTSAPAPKLALRETPAPLAVTS
SEPSTTPNNWADFSSTWPTSTNEKPETDNWDAWAAQPSLTVPSAGQLRQRSAFTPATATG
SSPSPVLGQGEKVEGLQAQALYPWRAKKDNHLNFNKNDVITVLEQQDMWWFGEVQGQKGW
FPKSYVKLISGPIRKSTSMDSGSSESPASLKRVASPAAKPVVSGEEFIAMYTYESSEQGD
LTFQQGDVILVTKKDGDWWTGTVGDKAGVFPSNYVRLKDSEGSGTAGKTGSLGKKPEIAQ
VIASYTATGPEQLTLAPGQLILIRKKNPGGWWEGELQARGKKRQIGWFPANYVKLLSPGT
SKITPTEPPKSTALAAVCQVIGMYDYTAQNDDELAFNKGQIINVLNKEDPDWWKGEVNGQ
VGLFPSNYVKLTTDMDPSQQWCSDLHLLDMLTPTERKRQGYIHELIVTEENYVNDLQLVT
EIFQKPLMESELLTEKEVAMIFVNWKELIMCNIKLLKALRVRKKMSGEKMPVKMIGDILS
AQLPHMQPYIRFCSRQLNGAALIQQKTDEAPDFKEFVKRLAMDPRCKGMPLSSFILKPMQ
RVTRYPLIIKNILENTPENHPDHSHLKHALEKAEELCSQVNEGVREKENSDRLEWIQAHV
QCEGLSEQLVFNSVTNCLGPRKFLHSGKLYKAKSNKELYGFLFNDFLLLTQITKPLGSSG
TDKVFSPKSNLQYKMYKTPIFLNEVLVKLPTDPSGDEPIFHISHIDRVYTLRAESINERT
AWVQKIKAASELYIETEKKKREKAYLVRSQRATGIGRLMVNVVEGIELKPCRSHGKSNPY
CEVTMGSQCHITKTIQDTLNPKWNSNCQFFIRDLEQEVLCITVFERDQFSPDDFLGRTEI
RVADIKKDQGSKGPVTKCLLLHEVPTGEIVVRLDLQLFDEP

Sequence length

1721

Interactions

View interactions

	Reactome
			NRAGE signals death through JNK Rho GTPase cycle EPHB-mediated forward signaling G alpha (12/13) signalling events Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autistic behavior	Pathogenic	rs2517016417	RCV002287213
Generalized-onset seizure	Likely pathogenic	rs2518153097	RCV002286485
Neurodevelopmental disorder	Likely pathogenic	rs2518087570	RCV003123315

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism	Uncertain significance	rs2517973581	RCV003988613
Cervical cancer	Benign	rs80252956	RCV005933212
Colorectal cancer	Likely benign	rs138849968	RCV005929663
Esophageal atresia/tracheoesophageal fistula	Uncertain significance	rs1985063411	RCV001172294
Familial cancer of breast	Likely benign	rs138849968	RCV005929661
Hepatocellular carcinoma	Benign; Likely benign	rs2070394, rs138849968	RCV005914568 RCV005929662
ITSN1-related disorder	Uncertain significance; Likely benign; Benign	rs200510636, rs769542325, rs763065231, rs2517549493, rs777159341, rs1441912954, rs2517767855, rs774528531, rs200762568, rs2518494055, rs13047880, rs138849968, rs369651938, rs79522704, rs143777464 View all (37 more)	RCV003395629 RCV003402506 RCV003414552 RCV003418954 RCV003399535 RCV003399621 RCV003399957 RCV003397572 RCV003397603 RCV003404529 RCV003984367 RCV003938982 RCV003896663 RCV003909330 RCV003907198 RCV003921564 RCV003904727 RCV003901608 RCV003901632 RCV003902017 RCV003911998 RCV003892299 RCV003899666 RCV003921800 RCV003913917 RCV003914010 RCV003939837 RCV003952038 RCV003931600 RCV003941649 RCV003939482 RCV003951564 RCV003947098 RCV003949540 RCV003949547 RCV003944400 RCV003959025 RCV003907361 RCV003934196 RCV003936780 RCV003937413 RCV003981821 RCV003983549 RCV003983579 RCV003969558 RCV003969674 RCV003969722 RCV003962848 RCV003936182 RCV003935999 RCV003936075 RCV003928457
ITSN1-related neurodevelopmental disorders	Uncertain significance	rs2518019042	RCV003458979
Nephrotic syndrome	Uncertain significance	rs2067451408, rs141317839	RCV001823688 RCV002472299
Ovarian serous cystadenocarcinoma	Likely benign	rs138849968	RCV005929664
Thyroid cancer, nonmedullary, 1	Likely benign	rs138849968	RCV005929665
Uterine carcinosarcoma	Benign	rs2070394	RCV005914569

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	34707297
Autistic Disorder	Associate	35982159
Autoimmune Diseases	Associate	34406596
Cognition Disorders	Associate	35982159
Crohn Disease	Associate	32547537
Developmental Disabilities	Associate	34707297
Down Syndrome	Associate	38095646
Epilepsy	Associate	34707297
Esophageal atresia with or without tracheoesophageal fistula	Associate	32641753
Essential Hypertension	Associate	28682143
Glioma	Associate	36171198
Inflammation	Associate	30803045, 31647141, 34406596
Inflammatory Bowel Diseases	Associate	32547537
Intellectual Disability	Associate	34707297
Ischemic Stroke	Stimulate	31647141
Multiple Organ Failure	Associate	31880027
Pancreatitis	Associate	31880027
Sepsis	Associate	30803045
Severe Acute Respiratory Syndrome	Stimulate	31880027
Spondylitis Ankylosing	Associate	34406596

ITSN1 (intersectin 1)