ABI1
Abl interactor 1
Also known as: ABI-1, ABI1_HUMAN, E3B1, SSH3BP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IZP0
- Gene
- ABI1
- Ensembl
- ENSG00000136754
- Chromosome
- 10
- Canonical length
- 508 aa
- Protein class
- Cancer-related genes, Disease related genes, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cell Junctions
OverviewNCBI Gene
This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]
Canonical amino-acid sequenceUniProt
508 residues, UniProt reviewed canonical sequence.
>Q8IZP0|ABI1
1 MAELQMLLEE EIPSGKRALI ESYQNLTRVA DYCENNYIQA TDKRKALEET KAYTTQSLAS
61 VAYQINALAN NVLQLLDIQA SQLRRMESSI NHISQTVDIH KEKVARREIG ILTTNKNTSR
121 THKIIAPANM ERPVRYIRKP IDYTVLDDVG HGVKWLKAKH GNNQPARTGT LSRTNPPTQK
181 PPSPPMSGRG TLGRNTPYKT LEPVKPPTVP NDYMTSPARL GSQHSPGRTA SLNQRPRTHS
241 GSSGGSGSRE NSGSSSIGIP IAVPTPSPPT IGPENISVPP PSGAPPAPPL APLLPVSTVI
301 AAPGSAPGSQ YGTMTRQISR HNSTTSSTSS GGYRRTPSVT AQFSAQPHVN GGPLYSQNSI
361 SIAPPPPPMP QLTPQIPLTG FVARVQENIA DSPTPPPPPP PDDIPMFDDS PPPPPPPPVD
421 YEDEEAAVVQ YNDPYADGDP AWAPKNYIEK VVAIYDYTKD KDDELSFMEG AIIYVIKKND
481 DGWYEGVCNR VTGLFPGNYV ESIMHYTDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ABI1 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.6
- Highest tissue expression
- 91 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 91 nTPM
- tonsil: 63 nTPM
- lymph node: 54 nTPM
- esophagus: 53 nTPM
- thymus: 50 nTPM
- skin: 46 nTPM
Single-cell type
- neutrophils: 771 nCPM
- neutrophil progenitors: 762 nCPM
- ocular epithelial cells: 729 nCPM
- esophageal apical cells: 565 nCPM
- suprabasal keratinocytes: 554 nCPM
- basal keratinocytes: 539 nCPM
Immune cell
- eosinophil: 137 nTPM
- T-reg: 114 nTPM
- basophil: 110 nTPM
- neutrophil: 93 nTPM
- memory B-cell: 85 nTPM
- total PBMC: 85 nTPM
Brain region
- hippocampal formation: 79 nTPM
- cerebral cortex: 64 nTPM
- basal ganglia: 55 nTPM
- amygdala: 53 nTPM
- hypothalamus: 53 nTPM
- cerebellum: 52 nTPM
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)
- 0.42
- gnomAD pLI
- 0.64
- gnomAD missense Z
- 2.09
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin polymerization or depolymerization
- cell projection morphogenesis
- cell surface receptor protein tyrosine kinase signaling pathway
- dendrite morphogenesis
- lamellipodium morphogenesis
- megakaryocyte development
- negative regulation of cell population proliferation
- neuron migration
- positive regulation of protein tyrosine kinase activity
- somitogenesis
Molecular functions
- cadherin binding
- cytoskeletal protein binding
- protein tyrosine kinase activator activity
- SH3 domain binding
- signaling adaptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ABI1 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 ABI1 as an antibody target. Whether an autoantibody or antibody against ABI1 could matter depends on whether native ABI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ABI1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ABI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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