Seroatlas · Human Serome Atlas

BIN1

Myc box-dependent-interacting protein 1

Also known as: AMPH2, AMPHL, BIN1_HUMAN, SH3P9

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

Protein identityUniProt · HPA

UniProt accession
O00499
Gene
BIN1
Ensembl
ENSG00000136717
Chromosome
2
Canonical length
593 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

593 residues, UniProt reviewed canonical sequence.

>O00499|BIN1
     1  MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
    61  LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
   121  QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKPVSLLEK
   181  AAPQWCQGKL QAHLVAQTNL LRNQAEEELI KAQKVFEEMN VDLQEELPSL WNSRVGFYVN
   241  TFQSIAGLEE NFHKEMSKLN QNLNDVLVGL EKQHGSNTFT VKAQPSDNAP AKGNKSPSPP
   301  DGSPAATPEI RVNHEPEPAG GATPGATLPK SPSQLRKGPP VPPPPKHTPS KEVKQEQILS
   361  LFEDTFVPEI SVTTPSQFEA PGPFSEQASL LDLDFDPLPP VTSPVKAPTP SGQSIPWDLW
   421  EPTESPAGSL PSGEPSAAEG TFAVSWPSQT AEPGPAQPAE ASEVAGGTQP AAGAQEPGET
   481  AASEAASSSL PAVVVETFPA TVNGTVEGGS GAGRLDLPPG FMFKVQAQHD YTATDTDELQ
   541  LKAGDVVLVI PFQNPEEQDE GWLMGVKESD WNQHKELEKC RGVFPENFTE RVP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BIN1 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)
0.51
Highest tissue expression
1,986 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 1,986 nTPM
  • tongue: 751 nTPM
  • hippocampal formation: 208 nTPM
  • spinal cord: 198 nTPM
  • midbrain: 190 nTPM
  • basal ganglia: 178 nTPM

Single-cell type

  • thymic myoid cells: 988 nCPM
  • hofbauer cells: 385 nCPM
  • oligodendrocytes: 300 nCPM
  • microglia: 235 nCPM
  • myonuclei: 182 nCPM
  • smooth muscle cells: 160 nCPM

Immune cell

  • T-reg: 250 nTPM
  • memory CD4 T-cell: 193 nTPM
  • memory CD8 T-cell: 187 nTPM
  • gdT-cell: 187 nTPM
  • naive B-cell: 182 nTPM
  • NK-cell: 180 nTPM

Brain region

  • white matter: 509 nTPM
  • basal ganglia: 357 nTPM
  • cerebral cortex: 337 nTPM
  • medulla oblongata: 302 nTPM
  • thalamus: 291 nTPM
  • midbrain: 280 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BIN1.

Disease | AllUniProt

Conditions BIN1 is implicated in, by any mechanism.

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 845 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Myopathy, centronuclear, 2
  • BIN1-related disorder

Disease | ImmuneIEDB

Conditions an epitope on BIN1 was assayed in.

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)
0.37
gnomAD pLI
0.78
gnomAD missense Z
2.25
DepMap mean gene effect
-0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BIN1 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 BIN1 as an antibody target. Whether an autoantibody or antibody against BIN1 could matter depends on whether native BIN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BIN1 is annotated at the cell surface, where native BIN1 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 BIN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BIN1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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