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, ... See more...

Aliases for ABI1 Gene

Aliases for ABI1 Gene

  • Abl Interactor 1 2 3 4 5
  • Spectrin SH3 Domain-Binding Protein 1 3 4
  • Eps8 SH3 Domain-Binding Protein 3 4
  • Abl-Binding Protein 4 3 4
  • Abelson Interactor 1 3 4
  • SSH3BP1 3 4
  • E3B1 3 4
  • Spectrin SH3 Domain Binding Protein 1 2
  • Abl-Interactor Protein 1 Long 3
  • Interactor Protein AblBP4 3
  • Nap1 Binding Protein 3
  • Eps8-Binding Protein 4
  • Nap1-Binding Protein 4
  • Abl-Interactor 1 2
  • ABLBP4 3
  • NAP1BP 3
  • SSH3BP 3
  • AblBP4 4
  • Nap1BP 4
  • ABI-1 3
  • Abi-1 4

External Ids for ABI1 Gene

Previous HGNC Symbols for ABI1 Gene

  • SSH3BP1

Previous GeneCards Identifiers for ABI1 Gene

  • GC10M027040
  • GC10M027075
  • GC10M026695

Summaries for ABI1 Gene

Entrez Gene Summary for ABI1 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]

GeneCards Summary for ABI1 Gene

ABI1 (Abl Interactor 1) is a Protein Coding gene. Diseases associated with ABI1 include Human Granulocytic Anaplasmosis and Myeloproliferative Neoplasm. Among its related pathways are Development FGFR signaling pathway and Regulation of actin dynamics for phagocytic cup formation. Gene Ontology (GO) annotations related to this gene include protein tyrosine kinase activator activity. An important paralog of this gene is ABI2.

UniProtKB/Swiss-Prot Summary for ABI1 Gene

  • May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level. In brain, seems to regulate the dendritic outgrowth and branching as well as to determine the shape and number of synaptic contacts of developing neurons.

Gene Wiki entry for ABI1 Gene

Additional gene information for ABI1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABI1 Gene

Genomics for ABI1 Gene

GeneHancer (GH) Regulatory Elements for ABI1 Gene

Promoters and enhancers for ABI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J026856 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 515.9 +1.7 1654 5.4 RXRA HNRNPK ZNF217 EP300 CTCF NRF1 POLR2G GTF2E2 PHF8 SIX5 ABI1 MASTL YME1L1 RNU6-946P ENSG00000223027 PDSS1 ACBD5 APBB1IP L13712-001
GH10J026776 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 28.2 +78.7 78686 12.8 TCF12 FOS CUX1 CTBP1 CEBPG FOSL2 CEBPB POLR2A PBX2 JUN ABI1 MASTL PDSS1 ACBD5 ENSG00000223027 NONHSAG005453.2
GH10J026798 Enhancer 1.1 Ensembl ENCODE dbSUPER 23.6 +58.4 58387 10.6 MEF2C OSR2 NCOR1 TCF12 ZNF316 ZBTB17 ZNF384 MAFF MAFK MEF2B ABI1 lnc-PDSS1-6 RF00994-121
GH10J026736 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 21.6 +122.2 122192 4.2 EP300 RFX1 RELA MEF2C POLR2A BCL11A TCF12 FOXA2 ZNF316 ZNF384 ABI1 PDSS1 ENSG00000223027 RNU6-946P MASTL APBB1IP NONHSAG005453.2 ENSG00000235843
GH10J026829 Enhancer 0.7 Ensembl dbSUPER 24.7 +32.1 32086 12 EP300 ZNF316 NFIC ZNF184 MAFK NFE2 ZNF146 ZBTB33 KLF1 ZNF770 ABI1 RNU6-946P ENSG00000223027 L13712-001 RF00994-121
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABI1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABI1

Top Transcription factor binding sites by QIAGEN in the ABI1 gene promoter:
  • aMEF-2
  • ATF-2
  • GATA-1
  • Lhx3a
  • LHX3b
  • MEF-2
  • MEF-2A
  • USF1
  • USF2
  • ZID

Genomic Locations for ABI1 Gene

Genomic Locations for ABI1 Gene
chr10:26,746,593-26,861,087
(GRCh38/hg38)
Size:
114,495 bases
Orientation:
Minus strand
chr10:27,035,522-27,150,016
(GRCh37/hg19)
Size:
114,495 bases
Orientation:
Minus strand

Genomic View for ABI1 Gene

Genes around ABI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABI1 Gene

Proteins for ABI1 Gene

  • Protein details for ABI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZP0-ABI1_HUMAN
    Recommended name:
    Abl interactor 1
    Protein Accession:
    Q8IZP0
    Secondary Accessions:
    • A9Z1Y6
    • B3KX62
    • B4DQ58
    • H7BXI6
    • O15147
    • O76049
    • O95060
    • Q5T2R3
    • Q5T2R4
    • Q5T2R6
    • Q5T2R7
    • Q5T2R9
    • Q5W070
    • Q5W072
    • Q8TB63
    • Q96S81
    • Q9NXZ9
    • Q9NYB8

    Protein attributes for ABI1 Gene

    Size:
    508 amino acids
    Molecular mass:
    55081 Da
    Quaternary structure:
    • Interacts with ABL1, ENAH, STX1A, SNAP25, VAMP2, EPS8, and through its N-terminus with WASF1. Part of a complex consisting of ABI1, STX1A and SNAP25. Part of a complex consisting of ABI1, EPS8 and SOS1 (By similarity). Interacts with SOS1, SOS2, GRB2, SPTA1 and the first SH3 domain of NCK1. Isoform 6 does not interact with NCK1. Component of the WAVE2 complex composed of ABI1, CYFIP1/SRA1, NCKAP1/NAP1 (NCKAP1l/HEM1 in hematopoietic cells) and WASF2/WAVE2 (PubMed:16417406). Interacts (via SH3 domain) with SHANK2 and SHANK3, but not SHANK1; the interaction is direct. Interacts with the heterodimer MYC:MAX; the interaction may enhance MYC:MAX transcriptional activity. Interacts with FNBP1L (via the SH3 domain), WASF2, and CDC42, but only in the presence of FNBP1L (PubMed:19798448).
    • (Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein UL135.

    Alternative splice isoforms for ABI1 Gene

neXtProt entry for ABI1 Gene

Post-translational modifications for ABI1 Gene

  • Phosphorylated on tyrosine residues after serum stimulation or induction by v-Abl. Seems to be phosphorylated at Tyr-53 by ABL1, required for nuclear but not for synaptic localization.
  • Ubiquitination at Lys16 and Lys43
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABI1 Gene

Domains & Families for ABI1 Gene

Gene Families for ABI1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ABI1 Gene

Blocks:
  • SH3 domain signature
  • Variant SH3
  • Abl-interactor HHR
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABI1 Gene

GenScript: Design optimal peptide antigens:
  • e3B1 (ABI1_HUMAN)
  • cDNA FLJ52872, moderately similar to Homo sapiens abl-interactor 1 (ABI1), transcript variant 3, mRNA (B4DQ58_HUMAN)
  • cDNA FLJ76671, highly similar to Homo sapiens Abl-interactor protein 1 long (AbI1) mRNA (Q5T2R9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IZP0

UniProtKB/Swiss-Prot:

ABI1_HUMAN :
  • The t-SNARE coiled-coil homology domain is necessary and sufficient for interaction with STX1A.
  • Belongs to the ABI family.
Domain:
  • The t-SNARE coiled-coil homology domain is necessary and sufficient for interaction with STX1A.
Family:
  • Belongs to the ABI family.
genes like me logo Genes that share domains with ABI1: view

Function for ABI1 Gene

Molecular function for ABI1 Gene

UniProtKB/Swiss-Prot Function:
May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level. In brain, seems to regulate the dendritic outgrowth and branching as well as to determine the shape and number of synaptic contacts of developing neurons.

Phenotypes From GWAS Catalog for ABI1 Gene

Gene Ontology (GO) - Molecular Function for ABI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI,IEA 9010225
GO:0008092 cytoskeletal protein binding TAS 9593709
GO:0017124 SH3 domain binding IPI,IBA 19798448
GO:0030296 protein tyrosine kinase activator activity IEA --
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with ABI1: view
genes like me logo Genes that share phenotypes with ABI1: view

Animal Models for ABI1 Gene

MGI Knock Outs for ABI1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ABI1 Gene

Localization for ABI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABI1 Gene

Cytoplasm. Nucleus. Cell projection, lamellipodium. Cell projection, filopodium. Cell projection, growth cone. Cell junction, synapse, postsynaptic density. Cytoplasm, cytoskeleton. Note=Localized to protruding lamellipodia and filopodia tips. Also localized to neuronal growth cones and synaptosomes. May shuttle from the postsynaptic densities to the nucleus (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABI1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 4
endoplasmic reticulum 4
extracellular 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA 21873635
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum TAS 9593709
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ABI1: view

Pathways & Interactions for ABI1 Gene

genes like me logo Genes that share pathways with ABI1: view

Pathways by source for ABI1 Gene

2 GeneGo (Thomson Reuters) pathways for ABI1 Gene
  • Development EGFR signaling via small GTPases
  • Development FGFR signaling pathway
3 Qiagen pathways for ABI1 Gene
  • EGF Pathway
  • EphB-EphrinB Signaling
  • Ephrin-Eph Signaling
1 Cell Signaling Technology pathway for ABI1 Gene

SIGNOR curated interactions for ABI1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ABI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001756 somitogenesis IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS 9010225
GO:0008154 actin polymerization or depolymerization NAS 11516653
GO:0008285 negative regulation of cell proliferation TAS 9010225
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with ABI1: view

Drugs & Compounds for ABI1 Gene

(9) Drugs for ABI1 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dasatinib Approved, Investigational Pharma Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 319
Ponatinib Approved, Investigational Pharma Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 56
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for ABI1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABI1: view

Transcripts for ABI1 Gene

mRNA/cDNA for ABI1 Gene

18 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABI1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - -
SP5: - -
SP6: - - - -
SP7: - - - -
SP8: - - - -
SP9: - - - -
SP10: - - -
SP11: - - -
SP12:

ExUns: 15a · 15b · 15c · 15d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ABI1 Gene

GeneLoc Exon Structure for
ABI1

Expression for ABI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABI1 Gene

Protein differential expression in normal tissues from HIPED for ABI1 Gene

This gene is overexpressed in Saliva (10.0), Peripheral blood mononuclear cells (9.0), and Platelet (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABI1 Gene



Protein tissue co-expression partners for ABI1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABI1

SOURCE GeneReport for Unigene cluster for ABI1 Gene:

Hs.508148

mRNA Expression by UniProt/SwissProt for ABI1 Gene:

Q8IZP0-ABI1_HUMAN
Tissue specificity: Widely expressed, with highest expression in brain.

Evidence on tissue expression from TISSUES for ABI1 Gene

  • Nervous system(5)
  • Blood(4.5)
  • Heart(4.2)
  • Liver(4.2)
  • Muscle(4.2)
  • Intestine(2.5)
  • Lung(2.5)
  • Kidney(2.4)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with ABI1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABI1 Gene

Orthologs for ABI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABI1 31 30
  • 99.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABI1 31
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABI1 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABI1 31 30
  • 95.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABI1 31
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abi1 17 31 30
  • 92.38 (n)
rat
(Rattus norvegicus)
Mammalia Abi1 30
  • 92.31 (n)
chicken
(Gallus gallus)
Aves ABI1 31 30
  • 86.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABI1 31
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abi1 30
  • 81.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7665 30
zebrafish
(Danio rerio)
Actinopterygii abi1a 31
  • 82 (a)
OneToMany
abi1b 31 30
  • 72.45 (n)
OneToMany
zgc73174 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1188 30
fruit fly
(Drosophila melanogaster)
Insecta Abi 31
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea abi-1 31
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for ABI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABI1 Gene

ENSEMBL:
Gene Tree for ABI1 (if available)
TreeFam:
Gene Tree for ABI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABI1: view image

Paralogs for ABI1 Gene

Paralogs for ABI1 Gene

(10) SIMAP similar genes for ABI1 Gene using alignment to 6 proteins:

  • ABI1_HUMAN
  • A6NFN2_HUMAN
  • F5H1G9_HUMAN
  • F8WA55_HUMAN
  • F8WA56_HUMAN
  • L8EC66_HUMAN

Pseudogenes.org Pseudogenes for ABI1 Gene

genes like me logo Genes that share paralogs with ABI1: view

Variants for ABI1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABI1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
718498 Benign: not provided 26,751,707(-) T/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1046187 Likely Benign: Coenzyme Q10 deficiency, primary 26,746,630(-) T/G NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs144623506 Uncertain Significance: Coenzyme Q10 deficiency, primary 26,746,737(-) A/T NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs886046937 Uncertain Significance: Coenzyme Q10 deficiency, primary 26,746,735(-) T/C NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs2306236 - p.Gly331Ala

Additional dbSNP identifiers (rs#s) for ABI1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ABI1 Gene

Variant ID Type Subtype PubMed ID
dgv104e214 CNV loss 21293372
dgv125e199 CNV deletion 23128226
esv26420 CNV gain 19812545
esv3306684 CNV mobile element insertion 20981092
esv3384388 CNV insertion 20981092
esv3406827 CNV insertion 20981092
esv3415799 CNV duplication 20981092
esv3578734 CNV loss 25503493
esv3578735 CNV loss 25503493
esv3578736 CNV loss 25503493
esv3622701 CNV gain 21293372
esv3622702 CNV loss 21293372
nsv6132 CNV deletion 18451855
nsv831812 CNV gain 17160897

Variation tolerance for ABI1 Gene

Residual Variation Intolerance Score: 21.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABI1 Gene

Disorders for ABI1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ABI1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
human granulocytic anaplasmosis
  • hge
myeloproliferative neoplasm
  • campomelic dysplasia
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search ABI1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABI1_HUMAN
  • Note=A chromosomal aberration involving ABI1 is a cause of acute leukemias. Translocation t(10;11)(p11.2;q23) with KMT2A/MLL1. ABI1 isoform 2 was found to be present in acute leukemia KMT2A/MLL1-ABI1 fusion transcript. {ECO:0000269 PubMed:9694699}.

Additional Disease Information for ABI1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABI1: view

No data available for Genatlas for ABI1 Gene

Publications for ABI1 Gene

  1. Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth. (PMID: 9010225) Biesova Z … Wong WT (Oncogene 1997) 2 3 4 23 54
  2. Isolation of hNap1BP which interacts with human Nap1 (NCKAP1) whose expression is down-regulated in Alzheimer's disease. (PMID: 11418237) Yamamoto A … Sakaki Y (Gene 2001) 3 4 23 54
  3. Abl interactor 1 binds to sos and inhibits epidermal growth factor- and v-Abl-induced activation of extracellular signal-regulated kinases. (PMID: 11003655) Fan PD … Goff SP (Molecular and cellular biology 2000) 3 4 23 54
  4. ABI-1, a human homolog to mouse Abl-interactor 1, fuses the MLL gene in acute myeloid leukemia with t(10;11)(p11.2;q23). (PMID: 9694699) Taki T … Hayashi Y (Blood 1998) 3 4 23 54
  5. Identification of a candidate human spectrin Src homology 3 domain-binding protein suggests a general mechanism of association of tyrosine kinases with the spectrin-based membrane skeleton. (PMID: 9593709) Ziemnicka-Kotula D … Kotula L (The Journal of biological chemistry 1998) 2 3 4 54

Products for ABI1 Gene

Sources for ABI1 Gene