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ITSN1 intersectin 1 [ Homo sapiens (human) ]

Gene ID: 6453, updated on 3-Nov-2024

Summary

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Official Symbol
ITSN1provided by HGNC
Official Full Name
intersectin 1provided by HGNC
Primary source
HGNC:HGNC:6183
See related
Ensembl:ENSG00000205726 MIM:602442; AllianceGenome:HGNC:6183
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ITSN; SH3D1A; SH3P17
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 and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in fat (RPKM 8.8), brain (RPKM 4.1) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See ITSN1 in Genome Data Viewer
Location:
21q22.11
Exon count:
44
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33642501..33899861)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32024315..32281564)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35014807..35272165)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:34960679-34961178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18382 Neighboring gene DNA replication fork stabilization factor DONSON Neighboring gene crystallin zeta like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35029077-35029576 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35063898-35064424 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35064425-35064951 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35069053-35069554 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:35114498-35114600 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35173966-35174467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35229825-35230518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:35257366-35258565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267187-35267773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267774-35268359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35274085-35274680 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:35285966-35287165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18384 Neighboring gene RNA, 7SL, cytoplasmic 740, pseudogene Neighboring gene ATP synthase peripheral stalk subunit OSCP

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The SH3D1A gene maps to human chromosome 21q22.1-->q22.2. Chen H, et al. Cytogenet Cell Genet, 1997. PMID 9465890
  2. Silencing Intersectin 1 Slows Orthotopic Neuroblastoma Growth in Mice. Harris J, et al. J Pediatr Hematol Oncol, 2017 Nov. PMID 28787396, Free PMC Article
  3. WIP/ITSN1 complex is involved in cellular vesicle trafficking and formation of filopodia-like protrusions. Gryaznova T, et al. Gene, 2018 Oct 20. PMID 29958948
  4. Intersectin1-S, a multidomain adapter protein, is essential for malignant glioma proliferation. Gu F, et al. Glia, 2015 Sep. PMID 25832561
  5. Whole-genome sequencing of quartet families with autism spectrum disorder. Yuen RK, et al. Nat Med, 2015 Feb. PMID 25621899

See all (143) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The alternative splicing of intersectin 1 regulated by PTBP1 promotes human glioma progression.
    Title: The alternative splicing of intersectin 1 regulated by PTBP1 promotes human glioma progression.
  2. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
    Title: ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
  3. Endocytic protein intersectin1-S shuttles into nucleus to suppress the DNA replication in breast cancer.
    Title: Endocytic protein intersectin1-S shuttles into nucleus to suppress the DNA replication in breast cancer.
  4. ITSN1 regulates SAM68 solubility through SH3 domain interactions with SAM68 proline-rich motifs.
    Title: ITSN1 regulates SAM68 solubility through SH3 domain interactions with SAM68 proline-rich motifs.
  5. two isoforms of intersectin1 ITSN1-S and ITSN1-L produced by alternative splicing exerted opposite functions in glioma development.
    Title: Alternative splicing-derived intersectin1-L and intersectin1-S exert opposite function in glioma progression.
  6. Different modes of ubiquitination regulated by AIP4 have opposite effects on ITSN1 isoform stability.
    Title: Ubiquitin-ligase AIP4 controls differential ubiquitination and stability of isoforms of the scaffold protein ITSN1.
  7. the long isoform of intersectin-1 (ITSN-1), a guanine nucleotide exchange factor for Cdc42, is identified as a novel Golgi component and an interaction partner of GCC88 responsible for mediating the actin-dependent dispersal of the Golgi ribbon.
    Title: Intersectin-1 interacts with the golgin GCC88 to couple the actin network and Golgi architecture.
  8. WIP enhances the interaction of N-WASP with ITSN1 and promotes ITSN1/beta-actin association.
    Title: WIP/ITSN1 complex is involved in cellular vesicle trafficking and formation of filopodia-like protrusions.
  9. Here, we discover that intersectin-s binds DENND2B, a guanine nucleotide exchange factor for the exocytic GTPase Rab13, and this interaction promotes recycling of ligand-free EGFR to the cell surface. Our study thus reveals a novel mechanism controlling the fate of internalized EGFR with important implications for cancer.
    Title: Intersectin-s interaction with DENND2B facilitates recycling of epidermal growth factor receptor.
  10. study reports that vaccinia virus A36 contains three NPF motifs that interact with the Eps15 homology (EH) domains in intersectin-1 and Eps15 to promote the release of virus from infected cells and their subsequent spread
    Title: NPF motifs in the vaccinia virus protein A36 recruit intersectin-1 to promote Cdc42:N-WASP-mediated viral release from infected cells.
Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2024-10-08)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2024-10-08)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies ITSN1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC134948, MGC134949

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
  
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables molecular adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables proline-rich region binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in clathrin-dependent synaptic vesicle endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
colocalizes_with clathrin-coated pit IDA
Inferred from Direct Assay
more info
 PubMed 
located_in clathrin-coated pit IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in intracellular vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
  
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear envelope IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in recycling endosome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
intersectin-1
Names
SH3 domain-containing protein 1A
Src homology 3 domain-containing protein
human intersectin-SH3 domain-containing protein SH3P17
intersectin 1 (SH3 domain protein)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029504.2 RefSeqGene

    Range
    5002..262362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001132.2 → NP_001001132.1  intersectin-1 isoform ITSN-s

    See identical proteins and their annotated locations for NP_001001132.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (ITSN-s) is shorter at the C-terminus compared to isoform ITSN-l.
    Source sequence(s)
    AF114488, AI857585, BC058925
    Consensus CDS
    CCDS33546.1
    UniProtKB/TrEMBL
    Q0PW96
    Related
    ENSP00000370691.4, ENST00000381291.8
    Conserved Domains (10) summary
    smart00027
    Location:214 → 309
    EH; Eps15 homology domain
    cd11991
    Location:1006 → 1057
    SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
    cd11995
    Location:1158 → 1211
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:372 → 686
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:225 → 291
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam13476
    Location:509 → 636
    AAA_23; AAA domain
    pfam16617
    Location:803 → 917
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:383 → 394
    GBP_C; coiled coil [structural motif]
    cl17036
    Location:1074 → 1138
    SH3; Src Homology 3 domain superfamily
    cl20817
    Location:331 → 414
    GBP_C; Guanylate-binding protein, C-terminal domain

  2. NM_001331008.2 → NP_001317937.1  intersectin-1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK027846, AP000308, AP000311, AP000312, CX163355, KF511399
    Consensus CDS
    CCDS82661.1
    UniProtKB/TrEMBL
    F8W7U0, Q0PW96
    Related
    ENSP00000382292.2, ENST00000399355.6

  3. NM_001331009.2 → NP_001317938.1  intersectin-1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK027846, AK300274, AP000312, CX163355
    Consensus CDS
    CCDS82663.1
    UniProtKB/TrEMBL
    Q0PW96
    Related
    ENSP00000382289.1, ENST00000399352.5
    Conserved Domains (11) summary
    smart00027
    Location:214 → 309
    EH; Eps15 homology domain
    cd11987
    Location:744 → 798
    SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
    cd11991
    Location:1001 → 1052
    SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
    cd11995
    Location:1153 → 1206
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:372 → 686
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:225 → 291
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam13476
    Location:509 → 636
    AAA_23; AAA domain
    pfam16617
    Location:798 → 912
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:383 → 394
    GBP_C; coiled coil [structural motif]
    cl17036
    Location:1069 → 1133
    SH3; Src Homology 3 domain superfamily
    cl20817
    Location:331 → 414
    GBP_C; Guanylate-binding protein, C-terminal domain

  4. NM_001331010.2 → NP_001317939.1  intersectin-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK027846, AP000308, AP000311, AP000312, AP000313, KF511399
    Consensus CDS
    CCDS82664.1
    UniProtKB/TrEMBL
    Q14BD4
    Related
    ENSP00000382301.3, ENST00000399367.7
    Conserved Domains (16) summary
    cd08375
    Location:1577 → 1711
    C2_Intersectin; C2 domain present in Intersectin
    smart00027
    Location:214 → 309
    EH; Eps15 homology domain
    cd11987
    Location:744 → 798
    SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
    cd11989
    Location:912 → 963
    SH3_Intersectin1_2; Second Src homology 3 domain (or SH3B) of Intersectin-1
    cd11991
    Location:1001 → 1052
    SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
    cd11993
    Location:1069 → 1133
    SH3_Intersectin1_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-1
    cd11995
    Location:1153 → 1206
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:372 → 686
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:225 → 291
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cd13264
    Location:1443 → 1574
    PH_ITSN; Intersectin Pleckstrin homology (PH) domain
    pfam00169
    Location:1460 → 1566
    PH; PH domain
    pfam00621
    Location:1237 → 1417
    RhoGEF; RhoGEF domain
    pfam13476
    Location:509 → 636
    AAA_23; AAA domain
    pfam16617
    Location:798 → 912
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:383 → 394
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:331 → 414
    GBP_C; Guanylate-binding protein, C-terminal domain

  5. NM_001331011.2 → NP_001317940.1  intersectin-1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP000312, BC117560, CX163355
    Consensus CDS
    CCDS82665.1
    UniProtKB/TrEMBL
    Q0PW96
    Related
    ENSP00000382286.1, ENST00000399349.5
    Conserved Domains (10) summary
    smart00027
    Location:214 → 309
    EH; Eps15 homology domain
    cd11987
    Location:744 → 798
    SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
    cd11995
    Location:1082 → 1135
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:372 → 686
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:225 → 291
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam13476
    Location:509 → 636
    AAA_23; AAA domain
    pfam16617
    Location:798 → 912
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:383 → 394
    GBP_C; coiled coil [structural motif]
    cl17036
    Location:1001 → 1062
    SH3; Src Homology 3 domain superfamily
    cl20817
    Location:331 → 414
    GBP_C; Guanylate-binding protein, C-terminal domain

  6. NM_001331012.2 → NP_001317941.1  intersectin-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AK027846, AP000308, AP000311, AP000312, CX163355, KF511399
    Consensus CDS
    CCDS82666.1
    UniProtKB/TrEMBL
    Q0PW96
    Related
    ENSP00000382290.1, ENST00000399353.5
    Conserved Domains (11) summary
    smart00027
    Location:177 → 272
    EH; Eps15 homology domain
    cd11987
    Location:707 → 761
    SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
    cd11991
    Location:964 → 1015
    SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
    cd11995
    Location:1116 → 1169
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:335 → 649
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:188 → 254
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam13476
    Location:472 → 599
    AAA_23; AAA domain
    pfam16617
    Location:761 → 875
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:346 → 357
    GBP_C; coiled coil [structural motif]
    cl17036
    Location:1032 → 1096
    SH3; Src Homology 3 domain superfamily
    cl20817
    Location:294 → 377
    GBP_C; Guanylate-binding protein, C-terminal domain

  7. NM_003024.3 → NP_003015.2  intersectin-1 isoform ITSN-l

    See identical proteins and their annotated locations for NP_003015.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (ITSN-l).
    Source sequence(s)
    AF064244, AF114487, AP000313, BC058925
    Consensus CDS
    CCDS33545.1
    UniProtKB/Swiss-Prot
    A7Y322, A8CTX8, A8CTY3, A8CTY7, A8D7D0, A8DCP3, B4DTM2, E7ERJ1, E9PE44, E9PG01, E9PHV2, O95216, Q0PW94, Q0PW95, Q0PW97, Q14BD3, Q15811, Q1ED40, Q20BK3, Q9UET5, Q9UK60, Q9UNK1, Q9UNK2, Q9UQ92
    UniProtKB/TrEMBL
    Q14BD4
    Related
    ENSP00000370719.3, ENST00000381318.8
    Conserved Domains (16) summary
    cd08375
    Location:1582 → 1716
    C2_Intersectin; C2 domain present in Intersectin
    smart00027
    Location:214 → 309
    EH; Eps15 homology domain
    cd11987
    Location:744 → 803
    SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
    cd11989
    Location:917 → 968
    SH3_Intersectin1_2; Second Src homology 3 domain (or SH3B) of Intersectin-1
    cd11991
    Location:1006 → 1057
    SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
    cd11993
    Location:1074 → 1138
    SH3_Intersectin1_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-1
    cd11995
    Location:1158 → 1211
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:372 → 686
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:225 → 291
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cd13264
    Location:1448 → 1579
    PH_ITSN; Intersectin Pleckstrin homology (PH) domain
    pfam00169
    Location:1465 → 1571
    PH; PH domain
    pfam00621
    Location:1242 → 1422
    RhoGEF; RhoGEF domain
    pfam13476
    Location:509 → 636
    AAA_23; AAA domain
    pfam16617
    Location:803 → 917
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:383 → 394
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:331 → 414
    GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    33642501..33899861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028428.2 → XP_016883917.1  intersectin-1 isoform X1

    UniProtKB/Swiss-Prot
    A7Y322, A8CTX8, A8CTY3, A8CTY7, A8D7D0, A8DCP3, B4DTM2, E7ERJ1, E9PE44, E9PG01, E9PHV2, O95216, Q0PW94, Q0PW95, Q0PW97, Q14BD3, Q15811, Q1ED40, Q20BK3, Q9UET5, Q9UK60, Q9UNK1, Q9UNK2, Q9UQ92
    UniProtKB/TrEMBL
    Q14BD4
    Conserved Domains (16) summary
    cd08375
    Location:1582 → 1716
    C2_Intersectin; C2 domain present in Intersectin
    smart00027
    Location:214 → 309
    EH; Eps15 homology domain
    cd11987
    Location:744 → 803
    SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
    cd11989
    Location:917 → 968
    SH3_Intersectin1_2; Second Src homology 3 domain (or SH3B) of Intersectin-1
    cd11991
    Location:1006 → 1057
    SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
    cd11993
    Location:1074 → 1138
    SH3_Intersectin1_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-1
    cd11995
    Location:1158 → 1211
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:372 → 686
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:225 → 291
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cd13264
    Location:1448 → 1579
    PH_ITSN; Intersectin Pleckstrin homology (PH) domain
    pfam00169
    Location:1465 → 1571
    PH; PH domain
    pfam00621
    Location:1242 → 1422
    RhoGEF; RhoGEF domain
    pfam13476
    Location:509 → 636
    AAA_23; AAA domain
    pfam16617
    Location:803 → 917
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:383 → 394
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:331 → 414
    GBP_C; Guanylate-binding protein, C-terminal domain

  2. XM_017028431.3 → XP_016883920.1  intersectin-1 isoform X4

    UniProtKB/TrEMBL
    Q14BD4

  3. XM_017028433.3 → XP_016883922.1  intersectin-1 isoform X6

    UniProtKB/TrEMBL
    Q14BD4

  4. XM_017028432.3 → XP_016883921.1  intersectin-1 isoform X5

    UniProtKB/TrEMBL
    Q14BD4
    Conserved Domains (16) summary
    cd08375
    Location:1521 → 1655
    C2_Intersectin; C2 domain present in Intersectin
    smart00027
    Location:214 → 309
    EH; Eps15 homology domain
    cd11987
    Location:744 → 798
    SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
    cd11989
    Location:912 → 963
    SH3_Intersectin1_2; Second Src homology 3 domain (or SH3B) of Intersectin-1
    cd11991
    Location:1001 → 1052
    SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
    cd11993
    Location:1069 → 1133
    SH3_Intersectin1_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-1
    cd11995
    Location:1153 → 1206
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:372 → 686
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:225 → 291
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cd13264
    Location:1387 → 1518
    PH_ITSN; Intersectin Pleckstrin homology (PH) domain
    pfam00169
    Location:1404 → 1510
    PH; PH domain
    pfam00621
    Location:1237 → 1386
    RhoGEF; RhoGEF domain
    pfam13476
    Location:509 → 636
    AAA_23; AAA domain
    pfam16617
    Location:798 → 912
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:383 → 394
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:331 → 414
    GBP_C; Guanylate-binding protein, C-terminal domain

  5. XM_017028434.3 → XP_016883923.1  intersectin-1 isoform X7

    UniProtKB/TrEMBL
    Q14BD4

  6. XM_017028429.3 → XP_016883918.1  intersectin-1 isoform X2

    UniProtKB/TrEMBL
    A0A2X0TVY8

  7. XM_017028435.3 → XP_016883924.1  intersectin-1 isoform X8

    UniProtKB/TrEMBL
    A0A2X0TVY8

  8. XM_017028430.3 → XP_016883919.1  intersectin-1 isoform X3

    UniProtKB/TrEMBL
    Q14BD4

  9. XM_017028436.3 → XP_016883925.1  intersectin-1 isoform X9

    UniProtKB/TrEMBL
    Q14BD4

  10. XM_047440945.1 → XP_047296901.1  intersectin-1 isoform X10

  11. XM_017028438.3 → XP_016883927.1  intersectin-1 isoform X11

    UniProtKB/TrEMBL
    A7XZY7, Q0PW96
    Conserved Domains (10) summary
    smart00027
    Location:177 → 272
    EH; Eps15 homology domain
    cd11991
    Location:969 → 1020
    SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
    cd11995
    Location:1121 → 1174
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:335 → 649
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:188 → 254
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam13476
    Location:472 → 599
    AAA_23; AAA domain
    pfam16617
    Location:766 → 880
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:346 → 357
    GBP_C; coiled coil [structural motif]
    cl17036
    Location:1037 → 1101
    SH3; Src Homology 3 domain superfamily
    cl20817
    Location:294 → 377
    GBP_C; Guanylate-binding protein, C-terminal domain

  12. XM_017028440.3 → XP_016883929.1  intersectin-1 isoform X14

    UniProtKB/TrEMBL
    Q0PW96
    Conserved Domains (9) summary
    smart00027
    Location:177 → 272
    EH; Eps15 homology domain
    cd11995
    Location:1050 → 1103
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:335 → 649
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:188 → 254
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam13476
    Location:472 → 599
    AAA_23; AAA domain
    pfam16617
    Location:766 → 880
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:346 → 357
    GBP_C; coiled coil [structural motif]
    cl17036
    Location:969 → 1030
    SH3; Src Homology 3 domain superfamily
    cl20817
    Location:294 → 377
    GBP_C; Guanylate-binding protein, C-terminal domain

  13. XM_011529692.3 → XP_011527994.1  intersectin-1 isoform X15

    See identical proteins and their annotated locations for XP_011527994.1

    UniProtKB/TrEMBL
    Q0PW96
    Conserved Domains (10) summary
    smart00027
    Location:177 → 272
    EH; Eps15 homology domain
    cd11987
    Location:707 → 761
    SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
    cd11995
    Location:1045 → 1098
    SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
    COG1340
    Location:335 → 649
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:188 → 254
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam13476
    Location:472 → 599
    AAA_23; AAA domain
    pfam16617
    Location:761 → 875
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:346 → 357
    GBP_C; coiled coil [structural motif]
    cl17036
    Location:964 → 1025
    SH3; Src Homology 3 domain superfamily
    cl20817
    Location:294 → 377
    GBP_C; Guanylate-binding protein, C-terminal domain

  14. XM_047440949.1 → XP_047296905.1  intersectin-1 isoform X18

  15. XM_047440950.1 → XP_047296906.1  intersectin-1 isoform X19

    Related
    ENSP00000370685.5, ENST00000381285.8

  16. XM_017028441.3 → XP_016883930.1  intersectin-1 isoform X16

    UniProtKB/TrEMBL
    A8CTZ0, E9PD98

  17. XM_011529693.4 → XP_011527995.1  intersectin-1 isoform X17

    UniProtKB/TrEMBL
    A8CTZ0, E9PD98
    Related
    ENSP00000382275.4, ENST00000399338.8
    Conserved Domains (8) summary
    smart00027
    Location:214 → 309
    EH; Eps15 homology domain
    cd11987
    Location:744 → 798
    SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
    COG1340
    Location:372 → 686
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00052
    Location:225 → 291
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam13476
    Location:509 → 636
    AAA_23; AAA domain
    pfam16617
    Location:798 → 904
    INTAP; Intersectin and clathrin adaptor AP2 binding region
    cd16269
    Location:383 → 394
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:331 → 414
    GBP_C; Guanylate-binding protein, C-terminal domain

  18. XM_047440951.1 → XP_047296907.1  intersectin-1 isoform X20

  19. XM_047440943.1 → XP_047296899.1  intersectin-1 isoform X3

  20. XM_047440944.1 → XP_047296900.1  intersectin-1 isoform X10

  21. XM_047440947.1 → XP_047296903.1  intersectin-1 isoform X13

  22. XM_047440946.1 → XP_047296902.1  intersectin-1 isoform X12

  23. XM_047440948.1 → XP_047296904.1  intersectin-1 isoform X17

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    32024315..32281564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324760.1 → XP_054180735.1  intersectin-1 isoform X1

    UniProtKB/Swiss-Prot
    A7Y322, A8CTX8, A8CTY3, A8CTY7, A8D7D0, A8DCP3, B4DTM2, E7ERJ1, E9PE44, E9PG01, E9PHV2, O95216, Q0PW94, Q0PW95, Q0PW97, Q14BD3, Q15811, Q1ED40, Q20BK3, Q9UET5, Q9UK60, Q9UNK1, Q9UNK2, Q9UQ92

  2. XM_054324764.1 → XP_054180739.1  intersectin-1 isoform X4

  3. XM_054324766.1 → XP_054180741.1  intersectin-1 isoform X6

  4. XM_054324765.1 → XP_054180740.1  intersectin-1 isoform X5

  5. XM_054324767.1 → XP_054180742.1  intersectin-1 isoform X7

  6. XM_054324761.1 → XP_054180736.1  intersectin-1 isoform X2

  7. XM_054324768.1 → XP_054180743.1  intersectin-1 isoform X8

  8. XM_054324762.1 → XP_054180737.1  intersectin-1 isoform X3

  9. XM_054324769.1 → XP_054180744.1  intersectin-1 isoform X9

  10. XM_054324771.1 → XP_054180746.1  intersectin-1 isoform X10

  11. XM_054324773.1 → XP_054180748.1  intersectin-1 isoform X11

    UniProtKB/TrEMBL
    A7XZY7

  12. XM_054324776.1 → XP_054180751.1  intersectin-1 isoform X14

  13. XM_054324777.1 → XP_054180752.1  intersectin-1 isoform X15

  14. XM_054324781.1 → XP_054180756.1  intersectin-1 isoform X18

  15. XM_054324782.1 → XP_054180757.1  intersectin-1 isoform X19

  16. XM_054324778.1 → XP_054180753.1  intersectin-1 isoform X16

  17. XM_054324779.1 → XP_054180754.1  intersectin-1 isoform X17

  18. XM_054324783.1 → XP_054180758.1  intersectin-1 isoform X20

  19. XM_054324763.1 → XP_054180738.1  intersectin-1 isoform X3

  20. XM_054324770.1 → XP_054180745.1  intersectin-1 isoform X10

  21. XM_054324775.1 → XP_054180750.1  intersectin-1 isoform X13

  22. XM_054324774.1 → XP_054180749.1  intersectin-1 isoform X12

  23. XM_054324780.1 → XP_054180755.1  intersectin-1 isoform X17

  24. XM_054324772.1 → XP_054180747.1  intersectin-1 isoform X21

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15811.3 GenPept UniProtKB/Swiss-Prot:Q15811

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