ABL1 Gene
protein-coding GIFtS: 73
GC09P103075
|
|
c-abl oncogene 1, non-receptor tyrosine kinase (Previous names: v-abl Abelson murine leukemia viral oncogene homolog 1, c-abl oncogene 1, receptor tyrosine kinase ) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: ABL)
|
Aliases & Descriptions for ABL1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases & Descriptions |
|---|
| c-abl oncogene 1, non-receptor tyrosine kinase1 2 | | bcr/abl2 | | JTK71 2 3 | | tyrosine-protein kinase ABL12 | | p1501 2 3 | | v-abl2 | | v-abl Abelson murine leukemia viral oncogene homolog 11 2 | | proto-oncogene tyrosine-protein kinase ABL12 | | c-abl oncogene 1, receptor tyrosine kinase1 2 | | bcr/c-abl oncogene protein2 | | c-ABL1 2 | | Abelson murine leukemia viral oncogene homolog 13 | | Proto-oncogene c-Abl2 3 | | EC 2.7.10.23 | | ABL2 3 | | |
Export aliases for ABL1 gene to outside databasesPrevious GC identifers: GC09P124604 GC09P125136 GC09P126943 GC09P128865 GC09P130619 GC09P132579 GC09P133589 |
Summaries for ABL1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
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 processesof cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negativelyregulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocationresults in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronicmyelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated byCDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. (provided by RefSeq) UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519Function: Protein kinase that regulates key processes linked to cell growth and survival. Regulates cytoskeletonremodeling during cell differentiation, cell division and cell adhesion. Localizes to dynamic actin structures, andphosphorylates CRK and CRKL, DOK1, and other proteins controlling cytoskeleton dynamics. Regulates DNA repairpotentially by activating the proapoptotic pathway when the DNA damage is too severe to be repaired. PhosphorylatesPSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks
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) |
Genomic Views for ABL1 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 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences) About This Section
| Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ABL1 gene promoter: STAT5B STAT3 GATA-2 STAT1 STAT1beta STAT1alpha GATA-1 GATA-3 MyoD C/EBPbeta Other transcription factors
Search SABiosciences Chromatin IP Primers for ABL1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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: 9q34.1ABL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P103075: view genomic region
(about GC identifiers)
Start:
|
103,075,969 bp from pter |
End:
|
103,249,725 bp from pter |
Size:
|
173,757 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr9+ 133,589,333-133,763,062 |
RefSeq DNA sequence:- NC_000009.11 NT_035014.4
|
Proteins for ABL1 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
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 andCABLES1. Interacts with CABLES1 and PSTPIP1. Interacts with ZDHHC16 (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 proteinsrequires phosphorylation on Thr-735 and, sequesters ABL1 into the cytoplasm. Interacts with PSMA7
Subcellular location: Cytoplasm, cytoskeleton. Nucleus. Note=Sequestered into the cytoplasm through interaction with14-3-3 proteins
Subcellular location: Isoform IB: Nucleus membrane; Lipid-anchor. Note=The myristoylated c-ABL protein is reported tobe nuclear
PDB structures from and Proteopedia :1AB2 (3D)
 1ABL (3D)
 1AWO (3D)
 1BBZ (3D)
 1JU5 (3D)
 1OPL (3D)
 1ZZP (3D)
 2ABL (3D)
 2E2B (3D)
 2F4J (3D)
 2FO0 (3D)
 2G1T (3D)
 2G2F (3D)
 2G2H (3D)
 2G2I (3D)
 2GQG (3D)
 2HIW (3D)
 2HYY (3D)
 2HZ0 (3D)
 2HZ4 (3D)
 2HZI (3D)
 2O88 (3D)
 2V7A (3D)
 3CS9 (3D)
 3EG0 (3D)
 3EG1 (3D)
 3EG2 (3D)
 3EG3 (3D)
 3EGU (3D)
 3K2M (3D)
 
Secondary accessions: A3KFJ3 Q13869 Q13870 Q16133 Q17R61 Q45F09Alternative splicing: 2 isoforms: P00519-1 P00519-2 Explore the universe of human proteins at neXtProt for ABL1: NX_P00519 
Post-translational modifications:
Phosphorylated by PRKDC (By similarity). DNA damage-induced activation of c-Abl requires the function of ATM andSer-446 phosphorylation (By similarity). Phosphorylation on Thr-735 is required for binding 14-3-3 proteins forcytoplasmic translocation1
Isoform IB is myristoylated on Gly-21
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_005148.2 NP_009297.2
ENSEMBL proteins: ENSP00000361423 ENSP00000400412 ENSP00000376971 ENSP00000323315 ENSP00000406308 ENSP00000407756
Human Recombinant Proteins
5/9 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 9): About this table
ABL1 for ontologies About GeneDecksing
Antibodies for ABL1: Assays for ABL1: |
Protein
Domains/ Families for ABL1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ABL1 for domains About GeneDecksing
5/11 InterPro domains/families (see all 11):Graphical View of Domain Structure for InterPro Entry P00519ProtoNet 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, P00519Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. ABL subfamilySimilarity: Contains 1 protein kinase domainSimilarity: Contains 1 SH2 domainSimilarity: Contains 1 SH3 domain |
Gene Function for ABL1 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
| UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519Function: Protein kinase that regulates key processes linked to cell growth and survival. Regulates cytoskeletonremodeling during cell differentiation, cell division and cell adhesion. Localizes to dynamic actin structures, andphosphorylates CRK and CRKL, DOK1, and other proteins controlling cytoskeleton dynamics. Regulates DNA repairpotentially by activating the proapoptotic pathway when the DNA damage is too severe to be repaired. PhosphorylatesPSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocksCatalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphateEnzyme regulation: Stabilized in the inactive form by an association between the SH3 domain and the SH2-TK linkerregion, interactions of the amino-terminal cap, and contributions from an amino-terminal myristoyl group andphospholipids. Activated by autophosphorylation as well as by SRC-family kinase-mediated phosphorylation. Activated byRIN1 binding to the SH2 and SH3 domains. Inhibited by imatinib mesylate (Gleevec) which is used for the treatment ofchronic myeloid leukemia (CML). Inhibited by VX-680, an inhibitor that acts also on imanitib-resistant mutantsEnzyme Number (IUBMB): EC 2.7.10.2
Genatlas biochemistry entry for ABL1:Abelson murine leukemia viral (v-abl) oncogene homolog 1,nucleocytoplasmic shuttling protein,with a loss from thenucleus upon adhesion to fibronectin matrix,,activated by certain DNA-damaging agents from ionizing radiation toalkylating agents,promoting cell cycle arrest by blocking the G/S transition-in a TP53 dependent way,regulated byATM,requiring mitogen-activated protein kinase kinase 6 activation (MAP2K6) for inducing apoptosis,activating TP73 ina mismatch repair dependent apoptosis pathway and MAP2K6 (for CABL induced apoptosis)5/16 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 16): About this table
ABL1 for ontologies About GeneDecksing
Animal Models: 15/19 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Abl1) (see all 19):
ABL1 for phenotypes About GeneDecksing
|
Pathways & Interactions for ABL1 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
ABL1 for pathways About GeneDecksing
5 Millipore Pathways for ABL1 5/22 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for ABL1 (see all 22)
5
Cell Signaling Technology (CST) Pathways for ABL1 5/9 Kegg Pathways (Kegg details for ABL1) (see all 9): SABiosciences Pathway-Focused PCR Arrays including ABL1 (see all 8): PAHS-012A PAHS-020A 
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ABL1 SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABL1
5/254 Interacting proteins for ABL1 (ENSP000003614233 P005191, 2) via UniProtKB, MINT, and/or STRING (see all 254)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| ABI1 | Q8IZP01, 2 | STRING: ENSP00000347555 EBI-375543,EBI-375446 MINT-7385805 MINT-7385781 MINT-3390323 MINT-7907945 MINT-7385753 MINT-7385822 MINT-7385733 MINT-3390262 | | RIN1 | Q136711, 2 | STRING: ENSP00000310406 EBI-375543,EBI-366017 MINT-59466 MINT-8034725 MINT-59455 MINT-59454 | | MAP4K1 | Q929181, 2 | STRING: ENSP00000221409 EBI-375543,EBI-881 MINT-7244806 MINT-7243318 MINT-7213035 | | CRK | P461081, 2 | STRING: ENSP00000300574 EBI-375543,EBI-886 MINT-7254106 MINT-8036825 | | NCK1 | P163331, 2 | STRING: ENSP00000288986 EBI-375543,EBI-389883 MINT-7247638 MINT-7249642 | About this table
5/14 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 14): About this table
ABL1 for ontologies About GeneDecksing
|
Drugs & Compounds for ABL1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
ABL1 for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for ABL1 |
Compounds for ABL1 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| 1-Naphthyl PP1 | Src family kinase inhibitor; also inhibits c-Abl | [221243-82-9] | About this table
10/44 Novoseek chemical compound relationships for ABL1 gene (see all 44)
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| imatinib |
91.7 |
281 |
18835981 (5), 20020482 (5), 16205964 (3), 15510830 (3) (see all 99) |
| tyrosine |
87.4 |
511 |
9988744 (4), 11279131 (4), 11781820 (4), 11494128 (4) (see all 99) |
| dasatinib |
78.7 |
22 |
17155893 (2), 19062342 (2), 18326784 (2), 16721371 (1) (see all 10) |
| adaphostin |
66.7 |
5 |
17308109 (2), 17252018 (1) |
| phosphotyrosine |
65.4 |
15 |
1712111 (3), 12654250 (2), 8912843 (1), 10708759 (1) (see all 12) |
| rottlerin |
40.4 |
6 |
11707430 (1), 20043988 (1), 10713049 (1), 16631755 (1) |
| phosphatidylinositol |
40.2 |
17 |
9295282 (4), 16867995 (3), 1846663 (2), 14555967 (1) (see all 11) |
| threonine |
34.4 |
5 |
8691423 (1), 10637231 (1), 11840343 (1), 8816443 (1) (see all 5) |
| cytarabine |
30.6 |
11 |
8900110 (3), 8530447 (2), 12021410 (2), 9365241 (1) |
| herbimycin a |
28.6 |
2 |
1564963 (1), 8510919 (1) |
About this table
2 PharmGKB drug compound relationships for ABL1 geneAbout this table
|
Transcripts for ABL1 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences) About This Section
|
REFSEQ mRNAs for ABL1 gene (2 alternative transcripts): NM_005157.3 NM_007313.2 Additional cDNA sequence: AB209456.1 AB209642.1 AF533988.1 AK095344.1 AK294983.1 AM491359.1 AM491361.1 AY043457.1 AY789120.1 BC107069.1 BC107070.1 BC117451.1 CR598308.1 CR614023.1 DQ898314.1 EF158045.1 EF423615.1 EU447303.1 M13096.1 M14752.1 M14753.1 M14754.1 M25946.1 M30833.1 X07537.1 X16416.1 X51945.1 16 DOTS entries: DT.75139099 DT.91761963 DT.121201653 DT.40199015 DT.100033850 DT.121201747 DT.121201672 DT.121201745 DT.97817099 DT.95079826 DT.95228147 DT.87017796 DT.100734507 DT.121201744 DT.91724158 DT.95129497 24/43 AceView cDNA sequences (see all 43): AK095344 BM832613 BX099890 CR614023 AL134822 AL707819 CR598308 NM_007313 X16416 BX097261 AA687347 CA335983 AI025543 AW206835 H81821 AI084206 BQ772414 AA889856 BG955635 AI475681 X51945 NM_005157 M14753 M14752
highest scoring ESTs for ABL1:T47234 X16416 AA115473 AA115607 AA227275 AA227276 AA296072 AA325255 AA335336 AA335349 Unigene Cluster for ABL1: C-abl oncogene 1, non-receptor tyrosine kinase Hs.431048 [show with all ESTs]Unigene Representative Sequence: NM_007313
GeneLoc Exon Structure
6 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000372348 ENST00000444970 ENST00000393293 ENST00000318560(uc004bzv.2 uc004bzw.2) ENST00000426772 ENST00000438426
|
Expression for ABL1 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| ABL1 expression in normal and diseased human tissues
1 / 2 / 3 9 probe-sets matching ABL1 gene
Affymetrix probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 2041_i_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
0.17 |
0.62 |
M14752 |
0.80 |
1.00 |
0.91 |
1 |
| 2040_s_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
-0.17 |
0.54 |
M14752 |
0.80 |
1.00 |
0.91 |
1 |
| 1656_s_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
0.77 |
0.46 |
U07563 |
0.20 |
0.50 |
0.38 |
1 |
| 1636_g_at2, 3
|
U95-A |
1 |
0.94 |
1.00 |
0.88 |
1.38 |
U07563 |
0.20 |
0.50 |
0.38 |
1 |
| 1635_at2, 3
|
U95-A |
1 |
0.94 |
1.00 |
0.82 |
1.17 |
U07563 |
0.20 |
0.50 |
0.38 |
1 |
| 52316_s_at2, 3
|
U95-B |
1 |
0.81 |
1.00 |
0.77 |
1.55 |
T47234 |
1.00 |
1.00 |
1.00 |
1 |
| 39730_at2, 3
|
U95-A |
1 |
0.75 |
1.00 |
0.88 |
1.32 |
X16416 |
1.00 |
1.00 |
1.00 |
1 |
| 202123_s_at2, 3
|
U133-A |
1 |
0.73 |
1.00 |
-- |
-- |
NM_005157 |
0.60 |
1.00 |
0.82 |
1 |
| 202123_s_at2
|
U133Plus2 |
1 |
0.73 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
ABL1 for expression About GeneDecksing
Data from
Genenote 
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: AGGTACTGGT
SOURCE GeneReport for Unigene cluster: Hs.431048
Expression variation in blood from EXPOLDB for ABL1 UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519Tissue specificity: Widely expressed SABiosciences Expression via Pathway-Focused PCR Arrays including ABL1 (see all 8): PAHS-012A PAHS-020A 
|
Orthologs for ABL1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ABL1 gene from 5/10 species (see all 10)
About this table Species with no ortholog for ABL1
ENSEMBL Gene Tree for ABL1 (if available) |
Paralogs for ABL1 gene(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ABL1 gene
- TEC2 BMX2 ABL22 SRMS2 ITK2 PTK62 TXK2 BTK2
ABL1 for paralogs About GeneDecksing
|
Genomic Variants for ABL1 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 9 pos | Sequence | Recs | AA Chg | Type | More | Recs | Allele freq | Pop | Total sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for ABL1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 13 variations for ABL1 7 CNVs: 3782 96316 83198 96318 7726 83199 96320 6 Indels: 96319 96317 96321 29063 65533 83200 |  | QIAGEN SeqTarget long-range PCR primers for resequencing ABL1  |
|
Disorders & Mutations for ABL1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ABL1 for disorders About GeneDecksing
OMIM: 189980UniProtKB/Swiss-Prot: ABL1_HUMAN, P00519
Note=A chromosomal aberration involving ABL1 is a cause of chronic myeloid leukemia. Translocationt(9;22)(q34;q11) with BCR. The translocation produces a BCR-ABL found also in acute myeloid leukemia (AML) and acutelymphoblastic leukemia (ALL)
10/55 Novoseek disease relationships for ABL1 gene (see all 55)
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| myeloid leukemia chronic |
91.9 |
112 |
18243808 (3), 2157692 (2), 16825513 (2), 7718887 (2) (see all 97) |
| blast crisis |
79.7 |
14 |
10822991 (2), 10190307 (2), 10498618 (2), 12759927 (2) (see all 7) |
| leukemia |
77.8 |
84 |
18257513 (3), 9341866 (3), 2163816 (2), 17959833 (2) (see all 67) |
| lymphoblastic leukemia acute |
70.4 |
12 |
8242587 (1), 8632666 (1), 11801308 (1), 15964830 (1) (see all 12) |
| cml chronic phase |
67.7 |
2 |
1736009 (1) |
| myeloproliferative disorders |
65.1 |
11 |
10490629 (2), 12767088 (1), 9490692 (1), 15616602 (1) (see all 8) |
| minimal residual disease |
62.2 |
1 |
16213363 (1) |
| myeloproliferative neoplasm |
59.2 |
4 |
18971950 (1), 19175693 (1) |
| leukemogenesis |
56.9 |
12 |
11387320 (2), 9790503 (1), 12887890 (1), 20082857 (1) (see all 7) |
| gastrointestinal stromal tumor |
54.4 |
4 |
15637141 (1), 15717993 (1), 15727903 (1), 18553235 (1) |
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3 PharmGKB disease relationships for ABL1 geneAbout this table
Genetic Association Database (GAD): ABL1 Human Genome Epidemiology (HuGE) Navigator: ABL1 (15 documents) Tumor Gene Database (TGDB): ABL1 Export disorders and mutations for ABL1 gene to outside databases
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Medical News for ABL1 gene(Possibly Related Articles in
Doctor's Guide)
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Publications for ABL1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
| 10/1040 PubMed articles for ABL1 gene, integrated from 7 sources (see all 1040): (articles sorted by number of sources associating them with ABL1)- JNK phosphorylation of 14-3-3 proteins regulates nuclear targeting of c-Abl in the apoptotic response to DNA damage. (PubMed id 15696159)1, 2, 7 Yoshida K.... Miki Y. (2005)
- Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. (PubMed id 7665185)1, 2, 7 Chissoe S.L.... Roe B.A. (1995)
- Interaction between c-Abl and Arg tyrosine kinases and proteasome subunit PSMA7 regulates proteasome degradation. (PubMed id 16678104)1, 2, 7 Liu X....Cao C. (2006)
- Role of interfacial water molecules in proline-rich l igand recognition by the Src homology 3 domain of Abl. (PubMed id 19906645)1, 2, 7 Palencia A....Luque I. (2010)
- A novel SH2-containing phosphatidylinositol 3,4,5-trisphosphate 5- phosphatase (SHIP2) is constitutively tyrosine phosphorylated and associated with src homologous and collagen gene (SHC) in chronic myelogenous leukemia progenitor cells. (PubMed id 10194451)1, 2, 7 Wisniewski D.... Clarkson B. (1999)
- Secondary structure of Src homology 2 domain of c-Abl by heteronuclear NMR spectroscopy in solution. (PubMed id 1281542)1, 2, 7 Overduin M.... Cowburn D. (1992)
- Proteomics analysis of protein kinases by target class-selective prefractionation and tandem mass spectrometry. (PubMed id 17192257)1, 2 Wissing J.... Daub H. (2007)
- Organization of the SH3-SH2 unit in active and inactive forms of the c-Abl tyrosine kinase. (PubMed id 16543148)1, 2 Nagar B.... Kuriyan J. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- A single nucleotide polymorphism in the coding region of ABL and its effects on sensitivity to imatinib. (PubMed id 16151465)1, 4 Crossman L.C....Deininger M.W. (2005)
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External Searches for ABL1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing ABL1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing ABL1 gene
(According to HUGE)
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Specialized Databases showing ABL1 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| ATLAS Chromosomes in Cancer entry for ABL1 | Genetics and Cytogenetics in Oncology and Haematology | | CGP resequencing studies | http://www.sanger.ac.uk/perl/genetics/CGP/cgp_viewer?action=gene&ln=ABL1 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/abl1/ | | Wikipedia | http://en.wikipedia.org/wiki/Abl_gene |
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About This Section
| Patent Information for ABL1 gene: Search GeneIP for patents involving ABL1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for ABL1 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn, Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences) About This Section
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| Antibodies & Assays for ABL1  (Abl) |
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