Seroatlas · Human Serome Atlas

ITSN1

Intersectin-1

Also known as: ITSN, ITSN1_HUMAN, MGC134948, MGC134949, SH3D1A, SH3P17

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q15811
Gene: ITSN1
Ensembl: ENSG00000205726
Chromosome: 21
Canonical length: 1721 aa
Protein class: Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Plasma membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1721 residues, UniProt reviewed canonical sequence.

>Q15811|ITSN1
     1  MAQFPTPFGG SLDIWAITVE ERAKHDQQFH SLKPISGFIT GDQARNFFFQ SGLPQPVLAQ
    61  IWALADMNND GRMDQVEFSI AMKLIKLKLQ GYQLPSALPP VMKQQPVAIS SAPAFGMGGI
   121  ASMPPLTAVA PVPMGSIPVV GMSPTLVSSV PTAAVPPLAN GAPPVIQPLP AFAHPAATLP
   181  KSSSFSRSGP GSQLNTKLQK AQSFDVASVP PVAEWAVPQS SRLKYRQLFN SHDKTMSGHL
   241  TGPQARTILM QSSLPQAQLA SIWNLSDIDQ DGKLTAEEFI LAMHLIDVAM SGQPLPPVLP
   301  PEYIPPSFRR VRSGSGISVI SSTSVDQRLP EEPVLEDEQQ QLEKKLPVTF EDKKRENFER
   361  GNLELEKRRQ ALLEQQRKEQ ERLAQLERAE QERKERERQE QERKRQLELE KQLEKQRELE
   421  RQREEERRKE IERREAAKRE LERQRQLEWE RNRRQELLNQ RNKEQEDIVV LKAKKKTLEF
   481  ELEALNDKKH QLEGKLQDIR CRLTTQRQEI ESTNKSRELR IAEITHLQQQ LQESQQMLGR
   541  LIPEKQILND QLKQVQQNSL HRDSLVTLKR ALEAKELARQ HLRDQLDEVE KETRSKLQEI
   601  DIFNNQLKEL REIHNKQQLQ KQKSMEAERL KQKEQERKII ELEKQKEEAQ RRAQERDKQW
   661  LEHVQQEDEH QRPRKLHEEE KLKREESVKK KDGEEKGKQE AQDKLGRLFH QHQEPAKPAV
   721  QAPWSTAEKG PLTISAQENV KVVYYRALYP FESRSHDEIT IQPGDIVMVK GEWVDESQTG
   781  EPGWLGGELK GKTGWFPANY AEKIPENEVP APVKPVTDST SAPAPKLALR ETPAPLAVTS
   841  SEPSTTPNNW ADFSSTWPTS TNEKPETDNW DAWAAQPSLT VPSAGQLRQR SAFTPATATG
   901  SSPSPVLGQG EKVEGLQAQA LYPWRAKKDN HLNFNKNDVI TVLEQQDMWW FGEVQGQKGW
   961  FPKSYVKLIS GPIRKSTSMD SGSSESPASL KRVASPAAKP VVSGEEFIAM YTYESSEQGD
  1021  LTFQQGDVIL VTKKDGDWWT GTVGDKAGVF PSNYVRLKDS EGSGTAGKTG SLGKKPEIAQ
  1081  VIASYTATGP EQLTLAPGQL ILIRKKNPGG WWEGELQARG KKRQIGWFPA NYVKLLSPGT
  1141  SKITPTEPPK STALAAVCQV IGMYDYTAQN DDELAFNKGQ IINVLNKEDP DWWKGEVNGQ
  1201  VGLFPSNYVK LTTDMDPSQQ WCSDLHLLDM LTPTERKRQG YIHELIVTEE NYVNDLQLVT
  1261  EIFQKPLMES ELLTEKEVAM IFVNWKELIM CNIKLLKALR VRKKMSGEKM PVKMIGDILS
  1321  AQLPHMQPYI RFCSRQLNGA ALIQQKTDEA PDFKEFVKRL AMDPRCKGMP LSSFILKPMQ
  1381  RVTRYPLIIK NILENTPENH PDHSHLKHAL EKAEELCSQV NEGVREKENS DRLEWIQAHV
  1441  QCEGLSEQLV FNSVTNCLGP RKFLHSGKLY KAKSNKELYG FLFNDFLLLT QITKPLGSSG
  1501  TDKVFSPKSN LQYKMYKTPI FLNEVLVKLP TDPSGDEPIF HISHIDRVYT LRAESINERT
  1561  AWVQKIKAAS ELYIETEKKK REKAYLVRSQ RATGIGRLMV NVVEGIELKP CRSHGKSNPY
  1621  CEVTMGSQCH ITKTIQDTLN PKWNSNCQFF IRDLEQEVLC ITVFERDQFS PDDFLGRTEI
  1681  RVADIKKDQG SKGPVTKCLL LHEVPTGEIV VRLDLQLFDE P

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ITSN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.43
Highest tissue expression: 52 nTPM

Expression across tissuesHPA

Tissue

adipose tissue: 52 nTPM
breast: 27 nTPM
retina: 26 nTPM
liver: 25 nTPM
placenta: 23 nTPM
blood vessel: 21 nTPM

Single-cell type

adipocytes: 928 nCPM
rod photoreceptor cells: 518 nCPM
macrophages: 452 nCPM
choroid plexus epithelial cells: 434 nCPM
kupffer cells: 406 nCPM
astrocytes: 384 nCPM

Immune cell

eosinophil: 5.5 nTPM
non-classical monocyte: 5.1 nTPM
classical monocyte: 4.3 nTPM
intermediate monocyte: 3.2 nTPM
myeloid DC: 1.3 nTPM
total PBMC: 0.8 nTPM

Brain region

cerebral cortex: 92 nTPM
choroid plexus: 88 nTPM
basal ganglia: 77 nTPM
amygdala: 76 nTPM
thalamus: 76 nTPM
cerebellum: 73 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ITSN1.

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 465 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Inborn genetic diseases
Generalized-onset seizure
Autistic behavior
Neurodevelopmental disorder
Intellectual disability, autosomal dominant 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.22
gnomAD pLI: 1
gnomAD missense Z: 3.61
DepMap mean gene effect: -0.05
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

C2 domain
Dbl homology domain
EH domain
Guanine-nucleotide dissociation stimulator, CDC24, conserved site
SH3 domain
Pleckstrin homology domain
EF-hand domain
EF-hand domain pair
PH-like domain superfamily
EF-Hand 1, calcium-binding site
C2 domain superfamily
Dbl homology (DH) domain superfamily
SH3-like domain superfamily
Endocytic & GEF Adapter
SH3 domain
C2 domain
RhoGEF domain
Variant SH3 domain
EH domain
Variant SH3 domain
Pleckstrin homology domain
Intersectin-1, AP2 binding region
Intersectin and clathrin adaptor AP2 binding region

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ITSN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ITSN1 as an antibody target. Whether an autoantibody or antibody against ITSN1 could matter depends on whether native ITSN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ITSN1 is annotated at the cell surface, where native ITSN1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ITSN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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