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Aliases for ABI1 Gene

Aliases for ABI1 Gene

  • Abl-Interactor 1 2 3
  • 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 3
  • 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. Diseases associated with ABI1 include myeloid leukemia and breast cancer. Among its related pathways are Fcgamma receptor (FCGR) dependent phagocytosis and Development FGFR signaling pathway. GO annotations related to this gene include cytoskeletal protein 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ABI1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    Alternative splice isoforms for ABI1 Gene

neXtProt entry for ABI1 Gene

Proteomics data for ABI1 Gene at MOPED

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 for ABI1 Gene

Suggested Antigen Peptide Sequences for ABI1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZP0

UniProtKB/Swiss-Prot:

ABI1_HUMAN :
  • Q8IZP0
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 11418237
GO:0008092 cytoskeletal protein binding TAS 9593709
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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABI1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for ABI1 Gene COMPARTMENTS Subcellular localization image for ABI1 gene
Compartment Confidence
cytosol 4
endoplasmic reticulum 4
cytoskeleton 2
nucleus 2

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 --
GO:0005783 endoplasmic reticulum TAS 9593709
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ABI1: view

Pathways for ABI1 Gene

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

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:0007264 small GTPase mediated signal transduction TAS --
GO:0008154 actin polymerization or depolymerization NAS 11516653
genes like me logo Genes that share ontologies with ABI1: view

Compounds for ABI1 Gene

(3) HMDB Compounds for ABI1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1

(7) Novoseek inferred chemical compound relationships for ABI1 Gene

Compound -log(P) Hits PubMed IDs
af 10 78.9 2
abscisic acid 74.3 17
tyrosine 39.9 6
phosphoinositide 27.3 2
proline 21.1 3
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABI1

Primer 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 for ABI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABI1 Gene

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 expressions with ABI1: view

In Situ Assay Products

No data available for 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 35
  • 99.61 (n)
  • 99.61 (a)
ABI1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABI1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABI1 35
  • 95.46 (n)
  • 99.21 (a)
ABI1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abi1 35
  • 92.38 (n)
  • 98.34 (a)
Abi1 16
Abi1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABI1 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABI1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abi1 35
  • 92.31 (n)
  • 98.75 (a)
chicken
(Gallus gallus)
Aves ABI1 35
  • 86.68 (n)
  • 96.46 (a)
ABI1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABI1 36
  • 96 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7665 35
tropical clawed frog
(Silurana tropicalis)
Amphibia abi1 35
  • 81.72 (n)
  • 92.86 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1188 35
zebrafish
(Danio rerio)
Actinopterygii abi1a 36
  • 82 (a)
OneToMany
abi1b 35
  • 72.45 (n)
  • 84.31 (a)
abi1b 36
  • 80 (a)
OneToMany
zgc73174 35
fruit fly
(Drosophila melanogaster)
Insecta Abi 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea abi-1 36
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToMany
Species with no ortholog for ABI1:
  • 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

Selected 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 MAF
rs9285 -- 26,747,981(-) AAAAG(A/C)AGCAA utr-variant-3-prime
rs597171 -- 26,808,431(-) CACCA(A/G)CCCGC intron-variant
rs666989 -- 26,791,087(-) Gtttt(G/T)ttttt intron-variant
rs718825 -- 26,834,404(-) TTTCT(C/T)CCATC intron-variant
rs718826 -- 26,834,352(-) TGCAG(A/G)AGCTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv270960 CNV Insertion 20981092
nsv831812 CNV Gain 17160897
nsv6132 CNV Loss 18451855
esv26420 CNV Gain 19812545
dgv125e199 CNV Deletion 23128226

Relevant External Links for ABI1 Gene

HapMap Linkage Disequilibrium report
ABI1

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

Disorders for ABI1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ABI1 Gene including...

Search for ABI1 Gene in MalaCards »

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.

(2) Novoseek inferred disease relationships for ABI1 Gene

Disease -log(P) Hits PubMed IDs
leukemogenesis 62 1
leukemia 19.5 3

Relevant External Links for ABI1

Genetic Association Database (GAD)
ABI1
Human Genome Epidemiology (HuGE) Navigator
ABI1
genes like me logo Genes that share disorders with ABI1: view

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 23
  2. 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 23
  3. 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
  4. 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 23
  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. (J. Biol. Chem. 1998) 2 3 4

Products for ABI1 Gene

Sources for ABI1 Gene

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