Human Gene ABI1 (ENST00000376140.4_11) from GENCODE V47lift37
  Description: abl interactor 1, transcript variant 19 (from RefSeq NR_145410.2)
Gencode Transcript: ENST00000376140.4_11
Gencode Gene: ENSG00000136754.18_17
Transcript (Including UTRs)
   Position: hg19 chr10:27,035,525-27,149,887 Size: 114,363 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr10:27,037,499-27,149,792 Size: 112,294 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:27,035,525-27,149,887)mRNA (may differ from genome)Protein (481 aa)
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-  Comments and Description Text from UniProtKB
  ID: ABI1_HUMAN
DESCRIPTION: RecName: Full=Abl interactor 1; AltName: Full=Abelson interactor 1; Short=Abi-1; AltName: Full=Abl-binding protein 4; Short=AblBP4; AltName: Full=Eps8 SH3 domain-binding protein; Short=Eps8-binding protein; AltName: Full=Nap1-binding protein; Short=Nap1BP; AltName: Full=Spectrin SH3 domain-binding protein 1; AltName: Full=e3B1;
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-mediated phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level (By similarity).
SUBUNIT: 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.
INTERACTION: P00519:ABL1; NbExp=3; IntAct=EBI-375446, EBI-375543; O00555:CACNA1A; NbExp=2; IntAct=EBI-375446, EBI-766279; Q08509:Eps8 (xeno); NbExp=2; IntAct=EBI-375446, EBI-375596; P14598:NCF1; NbExp=5; IntAct=EBI-375446, EBI-395044; Q9Y2A7:NCKAP1; NbExp=2; IntAct=EBI-375446, EBI-389845; P02549:SPTA1; NbExp=2; IntAct=EBI-375446, EBI-375617;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity). Cell projection, lamellipodium (By similarity). Cell projection, filopodium (By similarity). Cell projection, growth cone (By similarity). Cell junction, synapse, synaptosome (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Localized to protruding lamellipodia and filopodia tips. Also localized to neuronal growth cones and synaptosomes (By similarity).
TISSUE SPECIFICITY: Widely expressed, with highest expression in brain.
DOMAIN: The t-SNARE coiled-coil homology domain is necessary and sufficient for interaction with STX1A (By similarity).
PTM: In vitro substrate for v-Abl (By similarity). Phosphorylated on tyrosine residues after serum stimulation or induction by v- Abl.
DISEASE: Note=A chromosomal aberration involving ABI1 is a cause of acute leukemias. Translocation t(10;11)(p11.2;q23) with MLL. ABI1 isoform 2 was found to be present in acute leukemia MLL-ABI1 fusion transcript.
SIMILARITY: Belongs to the ABI family.
SIMILARITY: Contains 1 SH3 domain.
SIMILARITY: Contains 1 t-SNARE coiled-coil homology domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ABI1ID233.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D010634 Phenobarbital
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C016403 2,4-dinitrotoluene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C009505 4,4'-diaminodiphenylmethane
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000082 Acetaminophen
  • D020106 Acrylamide
  • D000643 Ammonium Chloride
  • D001564 Benzo(a)pyrene
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.99 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 620.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.8095-0.387 Picture PostScript Text
3' UTR -438.601974-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012849 - Abl-interactor_HHR_dom
IPR000108 - p67phox
IPR001452 - SH3_domain
IPR000727 - T_SNARE_dom

Pfam Domains:
PF00018 - SH3 domain
PF07653 - Variant SH3 domain
PF07815 - Abl-interactor HHR
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain
58038 - SNARE fusion complex

ModBase Predicted Comparative 3D Structure on Q8IZP0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0017124 SH3 domain binding
GO:0030296 protein tyrosine kinase activator activity
GO:0044877 macromolecular complex binding
GO:0045296 cadherin binding

Biological Process:
GO:0001756 somitogenesis
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0008154 actin polymerization or depolymerization
GO:0008285 negative regulation of cell proliferation
GO:0016032 viral process
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0035855 megakaryocyte development
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0048813 dendrite morphogenesis
GO:0061098 positive regulation of protein tyrosine kinase activity
GO:0072673 lamellipodium morphogenesis

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0030175 filopodium
GO:0030426 growth cone
GO:0031209 SCAR complex
GO:0031252 cell leading edge
GO:0032433 filopodium tip
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF383677 - JP 2014500723-A/191180: Polycomb-Associated Non-Coding RNAs.
AF006516 - Homo sapiens eps8 binding protein e3B1 mRNA, complete cds.
AK126803 - Homo sapiens cDNA FLJ44853 fis, clone BRACE3052321, highly similar to Abl interactor 1.
BC024254 - Homo sapiens abl-interactor 1, mRNA (cDNA clone MGC:4024 IMAGE:3531592), complete cds.
AB209268 - Homo sapiens mRNA for Abl-interactor 1 variant protein.
AF260262 - Homo sapiens Abl-interactor protein 1 long (AbI1) mRNA, complete cds.
BC013238 - Homo sapiens abl-interactor 1, mRNA (cDNA clone IMAGE:4158413).
AB040151 - Homo sapiens mRNA for hNap1 Binding Protein, complete cds.
U87166 - Homo sapiens spectrin SH3 domain binding protein 1 (SSH3BP1) mRNA, complete cds.
AF001628 - Homo sapiens interactor protein AblBP4 (AblBP4) mRNA, complete cds.
AK298646 - Homo sapiens cDNA FLJ52872 complete cds, moderately similar to Homo sapiens abl-interactor 1 (ABI1), transcript variant 3, mRNA.
AK296751 - Homo sapiens cDNA FLJ52931 complete cds, highly similar to Homo sapiens abl-interactor 1 (ABI1), transcript variant 3, mRNA.
AK291823 - Homo sapiens cDNA FLJ76671 complete cds, highly similar to Homo sapiens Abl-interactor protein 1 long (AbI1) mRNA.
AF540955 - Homo sapiens Abl-interactor 1 (SSH3BP1) mRNA, complete cds.
FJ380057 - Homo sapiens abl-interactor 1 variant 41 mRNA, complete cds.
FJ380058 - Homo sapiens abl-interactor 1 variant 21 mRNA, complete cds.
FJ380059 - Homo sapiens abl-interactor 1 variant 72 mRNA, complete cds.
KJ904640 - Synthetic construct Homo sapiens clone ccsbBroadEn_14034 ABI1 gene, encodes complete protein.
AB529081 - Synthetic construct DNA, clone: pF1KB4120, Homo sapiens SSH3BP gene for abl-interactor 1, without stop codon, in Flexi system.
MA619254 - JP 2018138019-A/191180: Polycomb-Associated Non-Coding RNAs.
LF346251 - JP 2014500723-A/153754: Polycomb-Associated Non-Coding RNAs.
LF346252 - JP 2014500723-A/153755: Polycomb-Associated Non-Coding RNAs.
AK315914 - Homo sapiens cDNA, FLJ78813 complete cds, highly similar to Homo sapiens abl-interactor 1 (ABI1), transcript variant 3, mRNA.
LF346253 - JP 2014500723-A/153756: Polycomb-Associated Non-Coding RNAs.
LF346254 - JP 2014500723-A/153757: Polycomb-Associated Non-Coding RNAs.
JD506462 - Sequence 487486 from Patent EP1572962.
LF346255 - JP 2014500723-A/153758: Polycomb-Associated Non-Coding RNAs.
LF346262 - JP 2014500723-A/153765: Polycomb-Associated Non-Coding RNAs.
LF346271 - JP 2014500723-A/153774: Polycomb-Associated Non-Coding RNAs.
MA581828 - JP 2018138019-A/153754: Polycomb-Associated Non-Coding RNAs.
MA581829 - JP 2018138019-A/153755: Polycomb-Associated Non-Coding RNAs.
MA581830 - JP 2018138019-A/153756: Polycomb-Associated Non-Coding RNAs.
MA581831 - JP 2018138019-A/153757: Polycomb-Associated Non-Coding RNAs.
MA581832 - JP 2018138019-A/153758: Polycomb-Associated Non-Coding RNAs.
MA581839 - JP 2018138019-A/153765: Polycomb-Associated Non-Coding RNAs.
MA581848 - JP 2018138019-A/153774: Polycomb-Associated Non-Coding RNAs.
LF346275 - JP 2014500723-A/153778: Polycomb-Associated Non-Coding RNAs.
JD220394 - Sequence 201418 from Patent EP1572962.
JD535180 - Sequence 516204 from Patent EP1572962.
LF346276 - JP 2014500723-A/153779: Polycomb-Associated Non-Coding RNAs.
JD307463 - Sequence 288487 from Patent EP1572962.
MA581852 - JP 2018138019-A/153778: Polycomb-Associated Non-Coding RNAs.
MA581853 - JP 2018138019-A/153779: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8IZP0 (Reactome details) participates in the following event(s):

R-HSA-2029465 WAVE Regulatory Complex (WRC) interacts with RAC1 and PIP3 and gets activated
R-HSA-2130194 ABL phosphorylates WAVEs
R-HSA-2029469 p-ERK phosphorylates WAVEs and ABI
R-HSA-442592 WASPs or WAVEs activate the ARP2/3 complex
R-HSA-2197690 Detachment of WASP/WAVE
R-HSA-2029466 Attachment of preexisting mother filament and initiation of branching
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-5663213 RHO GTPases Activate WASPs and WAVEs
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-194138 Signaling by VEGF
R-HSA-195258 RHO GTPase Effectors
R-HSA-168249 Innate Immune System
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A9Z1Y6, ABI1 , ABI1_HUMAN, B3KX62, B4DQ58, ENST00000376140.1, ENST00000376140.2, ENST00000376140.3, H7BXI6, NR_145410, O15147, O76049, O95060, Q5T2R3, Q5T2R4, Q5T2R6, Q5T2R7, Q5T2R9, Q5W070, Q5W072, Q8IZP0, Q8TB63, Q96S81, Q9NXZ9, Q9NYB8, SSH3BP1, uc318mth.1, uc318mth.2
UCSC ID: ENST00000376140.4_11
RefSeq Accession: NM_001012750.3
Protein: Q8IZP0 (aka ABI1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.