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Aliases for ABI1 Gene

Aliases for ABI1 Gene

  • Abl Interactor 1 2 3 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
  • ABLBP4 3 4
  • NAP1BP 3 4
  • ABI-1 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
  • SSH3BP 3

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. Among its related pathways are Immune System and EGFR1 Signaling Pathway. GO annotations related to this gene include protein complex binding and protein tyrosine kinase activator activity. An important paralog of this gene is ABI2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABI1 Gene

Genomics for ABI1 Gene

Regulatory Elements for ABI1 Gene

Enhancers for ABI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F026736 1.5 FANTOM5 Ensembl ENCODE 21.6 +122.2 122193 4.2 HDGF TBP PKNOX1 WRNIP1 SIN3A CBX5 ETV6 CREM PAF1 ZNF362 ABI1 PDSS1 RNU6-946P ENSG00000223027 MASTL APBB1IP GC10P026755 ENSG00000235843
GH10F026856 1.5 FANTOM5 ENCODE 16 +1.7 1655 5.4 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 ZNF263 ABI1 RNU6-946P ENSG00000223027 MASTL PDSS1 ACBD5 APBB1IP YME1L1 GC10P026852
GH10F026778 1.4 FANTOM5 Ensembl ENCODE 17 +80.2 80210 4.2 PKNOX1 JUN FEZF1 EBF1 CTBP1 EED FOS FOSL2 ETV6 MAFK ABI1 MASTL PDSS1 ACBD5 ENSG00000223027 GC10P026755
GH10F026798 1 Ensembl ENCODE 19.2 +59.8 59821 4.7 SOX13 MAX ZNF384 RARA ZNF121 ZNF316 CBX5 NFE2 CREM NFE2L2 ABI1 RNU6-946P GC10M026791 GC10M026780
GH10F026681 1.2 FANTOM5 Ensembl ENCODE 13 +178.3 178288 2.4 MTA2 JUNB ZMYM3 TRIM22 BMI1 TBX21 ATF3 CBX5 IKZF1 FOS PDSS1 ABI1 MASTL LOC105376462 ENSG00000227932
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABI1 on UCSC Golden Path with GeneCards custom track

Promoters for ABI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001421963 1187 3401 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 ZNF263

Genomic Location for ABI1 Gene

Chromosome:
10
Start:
26,746,593 bp from pter
End:
26,861,087 bp from pter
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 and WASF2/WAVE2. 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 human cytomegalovirus protein UL135. Interacts with FNBP1L (via the SH3 domain), WASF2, and CDC42, but only in the presence of FNBP1L (PubMed:19798448).

    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 Lys 16 and Lys 43
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ABI1 (Abi-1)

No data available for DME Specific Peptides for ABI1 Gene

Domains & Families for ABI1 Gene

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.
  • Contains 1 SH3 domain.
  • Contains 1 t-SNARE coiled-coil homology domain.
Family:
  • Belongs to the ABI family.
genes like me logo Genes that share domains with ABI1: view

No data available for Gene Families for ABI1 Gene

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.

Gene Ontology (GO) - Molecular Function for ABI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9010225
GO:0008092 cytoskeletal protein binding TAS 9593709
GO:0017124 SH3 domain binding IPI 19798448
GO:0030296 protein tyrosine kinase activator activity IEA --
GO:0032403 protein complex binding IDA 18560548
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

Clone Products

Flow Cytometry 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 cell membrane, 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
extracellular 5
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 4
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for ABI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 17101133
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

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:0006928 movement of cell or subcellular component IDA 11516653
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
genes like me logo Genes that share ontologies with ABI1: view

Drugs & Compounds for ABI1 Gene

(11) 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 281
imatinib Approved Pharma Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Nilotinib Approved, Investigational Pharma Kinase Inhibitors 0
ponatinib Approved Pharma Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 31
Guanosine diphosphate 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

Unigene Clusters for ABI1 Gene

Abl-interactor 1:
Representative Sequences:

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of ABI1 Gene:

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.
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 and mRNA differential expression in normal tissues 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 34 35
  • 99.61 (n)
oppossum
(Monodelphis domestica)
Mammalia ABI1 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABI1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABI1 34 35
  • 95.46 (n)
cow
(Bos Taurus)
Mammalia ABI1 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abi1 34 16 35
  • 92.38 (n)
rat
(Rattus norvegicus)
Mammalia Abi1 34
  • 92.31 (n)
chicken
(Gallus gallus)
Aves ABI1 34 35
  • 86.68 (n)
lizard
(Anolis carolinensis)
Reptilia ABI1 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abi1 34
  • 81.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7665 34
zebrafish
(Danio rerio)
Actinopterygii abi1a 35
  • 82 (a)
OneToMany
abi1b 34 35
  • 72.45 (n)
zgc73174 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1188 34
fruit fly
(Drosophila melanogaster)
Insecta Abi 35
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea abi-1 35
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for ABI1 Gene

Paralogs for ABI1 Gene

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

Pseudogenes.org Pseudogenes for ABI1 Gene

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

Variants for ABI1 Gene

Sequence variations from dbSNP and Humsavar for ABI1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs115180525 Benign 26,746,476(+) TGACA(A/G)CTCTT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs367942639 Benign 26,746,326(+) TGTAT(C/G)TTATA intron-variant, downstream-variant-500B
rs10082354 -- 26,848,046(+) TACCC(A/C)AAAAA intron-variant
rs10082408 -- 26,847,961(+) GGGAG(G/T)CCGAG intron-variant
rs10082409 -- 26,848,264(+) CCAAA(A/G)TGATA intron-variant

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

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

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)

Relevant External Links for ABI1 Gene

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

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

Disorders for ABI1 Gene

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}.

Relevant External Links for ABI1

Genetic Association Database (GAD)
ABI1
Human Genome Epidemiology (HuGE) Navigator
ABI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABI1

No disorders were found for ABI1 Gene.

No data available for MalaCards and 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 W.T. (Oncogene 1997) 2 3 4 22 64
  2. Isolation of hNap1BP which interacts with human Nap 1 (NCKAP1) whose expression is down-regulated in Alzheimer's disease. (PMID: 11418237) Yamamoto A. … Sakaki Y. (Gene 2001) 3 4 22 64
  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 P.-D. … Goff S.P. (Mol. Cell. Biol. 2000) 3 4 22 64
  4. 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. (J. Biol. Chem. 1998) 2 3 4 64
  5. 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 22 64

Products for ABI1 Gene

Sources for ABI1 Gene

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