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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ABL1 Gene

protein-coding GIFtS: 74
GCID: GC09P133589

c-abl oncogene 1, non-receptor tyrosine kinase

(Previous names: v-abl Abelson murine leukemia viral oncogene homolog 1,...)
(Previous symbol: ABL)

Explore 87 diseases affiliated with
ABL1 via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
C-Abl Oncogene 1, Non-Receptor Tyrosine Kinase¹ ²		EC 2.7.10.2³ ⁸
ABL¹ ² ³		Bcr/Abl¹
JTK7¹ ² ³		Bcr/C-Abl Oncogene Protein²
P150¹		Proto-Oncogene Tyrosine-Protein Kinase ABL1²
C-ABL¹		Tyrosine-Protein Kinase ABL1²
C-Abl Oncogene 1, Receptor Tyrosine Kinase¹ ²		V-Abl¹
V-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1¹ ²		Abelson Murine Leukemia Viral Oncogene Homolog 1³
Proto-Oncogene C-Abl² ³		EC 2.7.10⁸
Abelson Tyrosine-Protein Kinase 1² ³

External Ids:	HGNC: 76¹	Entrez Gene: 25²	Ensembl: ENSG00000097007⁷	OMIM: 189980⁵	UniProtKB: P00519³

Export aliases for ABL1 gene to outside databases

Previous GC identifers: GC09P124604 GC09P125136 GC09P126943 GC09P128865 GC09P130619 GC09P132579 GC09P103075

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ABL1:

The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes

of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively

regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation

results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic

myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by

CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or

7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. (provided by RefSeq,

Jul 2008)

UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519

Function: Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and

survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor

endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine

phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1

(involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN

(microtubule-binding proteins). Phosphorylation of WASF3 is critical for the stimulation of lamellipodia formation and

cell migration. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of

these processes such as BCAR1, CRK, CRKL, DOK1, EFS or NEDD9. Phosphorylates multiple receptor tyrosine kinases and

more particularly promotes endocytosis of EGFR, facilitates the formation of neuromuscular synapses through MUSK,

inhibits PDGFRB-mediated chemotaxis and modulates the endocytosis of activated B-cell receptor complexes. Other

substrates which are involved in endocytosis regulation are the caveolin (CAV1) and RIN1. Moreover, ABL1 regulates the

CBL family of ubiquitin ligases that drive receptor down-regulation and actin remodeling. Phosphorylation of CBL leads

to increased EGFR stability. Involved in late-stage autophagy by regulating positively the trafficking and function of

lysosomal components. ABL1 targets to mitochondria in response to oxidative stress and thereby mediates mitochondrial

dysfunction and cell death. ABL1 is also translocated in the nucleus where it has DNA-binding activity and is involved

in DNA-damage response and apoptosis. Many substrates are known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6,

RAD9A, RAD51, RAD52 or WRN. Activates the proapoptotic pathway when the DNA damage is too severe to be repaired.

Phosphorylates TP73, a primary regulator for this type of damage-induced apoptosis. Phosphorylates the caspase CASP9

on 'Tyr-153' and regulates its processing in the apoptotic response to DNA damage. Phosphorylates PSMA7 that leads to

an inhibition of proteasomal activity and cell cycle transition blocks. ABL1 acts also as a regulator of multiple

pathological signaling cascades during infection. Several known tyrosine-phosphorylated microbial proteins have been

identified as ABL1 substrates. This is the case of A36R of Vaccinia virus, Tir (translocated intimin receptor) of

pathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA (ankyrin

repeat-containing protein A) of A.phagocytophilum. Pathogens can highjack ABL1 kinase signaling to reorganize the host

actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally,

functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor,

ABI1

summary for ABL1:

The Abl family of non-receptor tyrosine kinases includes c-Abl (Abelson tyrosine kinase) and Arg (Abl2)

subtypes. c-Abl is localized at several subcellular sites including the nucleus, cytoplasm, mitochondria and

endoplasmic reticulum, where it interacts with a large variety of cellular proteins including signaling

adaptors, kinases, phosphatases, cell cycle regulators, transcription factors and cytoskeletal proteins. Due

to its diverse range of targets, c-Abl has been implicated in many cellular processes including regulation

of cell growth and survival, oxidative stress and DNA-damage responses, and actin dynamics and cell

migration. The Abl family have significant structural homology to the Src tyrosine kinase family, but have a

unique long carboxy-terminal extension that contains protein-protein interaction sites and acts as the

binding site for targets such as ATM, p53 and pRb. c-Abl is medically important as there is a causal link

between the Abl-Bcr fusion protein (caused by a t(9,22) translocation) and development of chronic myeloid

leukemia.

Gene Wiki entry for ABL1 (Abl gene)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_035014.4

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ABL1 gene promoter:
NF-1 C/EBPbeta STAT1 GATA-3 MyoD STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ABL1 promoter sequence

Search SABiosciences Chromatin IP Primers for ABL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.1 Ensembl cytogenetic band: 9q34.12 HGNC cytogenetic band: 9q34.1

ABL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABL1 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P133589: view genomic region (about GC identifiers)

Start:	133,589,268 bp from pter	End:	133,763,062 bp from pter
Size:	173,795 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519 (See protein sequence)

Recommended Name: Tyrosine-protein kinase ABL1

Size: 1130 amino acids; 122873 Da

Cofactor: Magnesium or manganese

Subunit: Interacts with SORBS1 following insulin stimulation. Found in a trimolecular complex containing CDK5 and

CABLES1. Interacts with CABLES1 and PSTPIP1. Interacts with ZDHHC16, ITGB1 and HCK (By similarity). Interacts with

INPPL1/SHIP2. Interacts with the 14-3-3 proteins, YWHAB, YWHAE, YWHAG, YWHAH, SFN AND YWHAZ; the interaction with

14-3-3 proteins requires phosphorylation on Thr-735 and, sequesters ABL1 into the cytoplasm. Interacts with ABI1,

ABI2, BCR, CRK, FGR, FYN, HCK, LYN, PSMA7 RAD9A, RAD51, RAD52, TP73 and WASF3. A complex made of ABL1, CTTN and MYLK

regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated

endothelial cell (EC) barrier enhancement. Interacts (via SH3 domain) with CASP9; the interaction is direct and

increases in the response of cells to genotoxic stress and ABL1/c-Abl activation

Subcellular location: Cytoplasm, cytoskeleton. Nucleus. Mitochondrion (By similarity). Note=Shuttles between the

nucleus and cytoplasm depending on environmental signals. Sequestered into the cytoplasm through interaction with

14-3-3 proteins. Localizes to mitochondria in response to oxidative stress (By similarity)

Subcellular location: Isoform IB: Nucleus membrane; Lipid-anchor. Note=The myristoylated c-ABL protein is reported to

be nuclear

6/37 PDB 3D structures from and Proteopedia for ABL1 (see all 37):

1AB2 (3D)

1ABL (3D)

1AWO (3D)

1BBZ (3D)

1JU5 (3D)

1OPL (3D)

Secondary accessions: A3KFJ3 Q13869 Q13870 Q16133 Q17R61 Q45F09

Alternative splicing: 2 isoforms: P00519-1 P00519-2 (Contains a N-myristoyl glycine at position 2)

Explore the universe of human proteins at neXtProt for ABL1: NX_P00519

Post-translational modifications:

Acetylated at Lys-711 by EP300 which promotes the cytoplasmic translocation¹

Phosphorylation at Tyr-70 by members of the SRC family of kinases disrupts SH3 domain-based autoinhibitory interactions

and intermolecular associations, such as that with ABI1, and also enhances kinase activity. Phosphorylation at Tyr-226

and Tyr-393 correlate with increased activity. DNA damage-induced activation of ABL1 requires the function of ATM and

Ser-446 phosphorylation (By similarity). Phosphorylation at Ser-569 has been attributed to a CDC2-associated kinase

and is coupled to cell division (By similarity). Phosphorylation at Ser-618 and Ser-619 by PAK2 increases binding to

CRK and reduces binding to ABI1. Phosphorylation on Thr-735 is required for binding 14-3-3 proteins for cytoplasmic

translocation. Phosphorylated by PRKDC (By similarity)¹

Polyubiquitinated. Polyubiquitination of ABL1 leads to degradation¹

Isoform IB is myristoylated on Gly-2¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00519

4/19 DME Specific Peptides for ABL1 (P00519) (see all 19)

RDLAARN

LFVALYD

LAYNKFS

ELVHHHS

ABL1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_005148.2 NP_009297.2

ENSEMBL proteins:

ENSP00000361423 ENSP00000376971 ENSP00000323315

Reactome Protein details: P00519
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant ABL1 Protein
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for ABL1
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate (see all 2): ABL1 OriGene Custom Protein Services for ABL1
	GenScript Custom Purified and Recombinant Proteins Services for ABL1
	Novus Biologicals ABL1 Proteins Novus Biologicals ABL1 Lysates
	Sino Biological Recombinant Protein for ABL1
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ABL1

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	TAS	--
GO:0005739	mitochondrion	IEA	--
GO:0005829	cytosol	TAS	--

ABL1 for ontologies About GeneDecksing

ABL1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ABL1
	R&D Systems Antibodies for ABL1 (c-Abl)
	Cell Signaling Technology (CST) Antibodies for ABL1 (Abl)
	OriGene Antibodies: ABL1 OriGene Custom Antibody Services for ABL1
	GenScript Superior Antibodies for ABL1
	Novus Biologicals ABL1 Antibodies
	Abcam antibodies for ABL1
	Uscn Antibodies for ABL1
	ThermoFisher Antibodies for ABL1

Assay Products for ABL1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ABL1
	Cell Signaling Technology (CST) Sandwich ELISA Kits for ABL1 (Abl)
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ABL1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ABL1 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR017441 Protein_kinase_ATP_BS

IPR001245 Ser-Thr/Tyr_kinase_cat_dom

IPR011009 Kinase-like_dom

IPR015015 F-actin_binding

IPR000980 SH2

Graphical View of Domain Structure for InterPro Entry P00519

ProtoNet protein and cluster: P00519

3 Blocks protein families:

IPB000980 SH2 domain signature

IPB001452 SH3 domain signature

IPB008266 Tyrosine protein kinase

UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519

Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. ABL subfamily

Similarity: Contains 1 protein kinase domain

Similarity: Contains 1 SH2 domain

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary: