Human Gene ABL1 (uc004bzv.3)
Description: Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant b, mRNA.
RefSeq Summary (NM_007313): This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014].
Transcript (Including UTRs)
Position: hg19 chr9:133,589,268-133,763,062 Size: 173,795 Total Exon Count: 11 Strand: +
Coding Region
Position: hg19 chr9:133,589,707-133,761,070 Size: 171,364 Coding Exon Count: 11
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
MalaCards Disease Associations
MalaCards Gene Search: ABL1
Diseases sorted by gene-association score: congenital heart defects and skeletal malformations syndrome * (900), leukemia, chronic myeloid, somatic * (215), heart disease * (200), leukemia, acute lymphoblastic 3 * (118), abl1 kd-related altered drug metabolism * (100), precursor t-cell acute lymphoblastic leukemia * (94), myeloid leukemia (33), leukemia (29), myeloproliferative neoplasm (7), lymphoblastic leukemia (6), philadelphia-negative chronic myeloid leukemia (6), gastrointestinal stromal tumor (4), hypereosinophilic syndrome (4), bone marrow cancer (4), hematologic cancer (4), essential thrombocythemia (3), leukemia, acute lymphoblastic (3), childhood leukemia (2), chronic eosinophilic leukemia (2), cellular neurofibroma (2), t-cell prolymphocytic leukemia (2), myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (1), myelofibrosis with myeloid metaplasia, somatic (1), artemis deficiency (1), leukemia, acute myeloid (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
Pfam Domains: PF00017 - SH2 domain
PF00018 - SH3 domain
PF00069 - Protein kinase domain
PF07653 - Variant SH3 domain
PF07714 - Protein tyrosine kinase
PF08919 - F-actin binding
PF14604 - Variant SH3 domain
SCOP Domains: 50044 - SH3-domain
56112 - Protein kinase-like (PK-like)
55550 - SH2 domain
ModBase Predicted Comparative 3D Structure on P00519-2
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.
Descriptions from all associated GenBank mRNAs
AB209642 - Homo sapiens mRNA for Proto-oncogene tyrosine-protein kinase ABL1 variant protein.M14753 - Human abl mRNA containing alternative first exons.AB209456 - Homo sapiens mRNA for v-abl Abelson murine leukemia viral oncogene homolog 1 isoform b variant protein.BC117451 - Homo sapiens c-abl oncogene 1, receptor tyrosine kinase, mRNA (cDNA clone MGC:151060 IMAGE:40126002), complete cds.AB384952 - Synthetic construct DNA, clone: pF1KB4477, Homo sapiens ABL1 gene for proto-oncogene tyrosine-protein kinase ABL1, complete cds, without stop codon, in Flexi system.EU447303 - Homo sapiens BCR/ABL fusion protein (BCR/ABL fusion) mRNA, partial cds.KY284159 - Homo sapiens Bcr/Abl fusion protein e13a2 mRNA, partial cds.EU394716 - Homo sapiens BCR/ABL e18-int1b-a2 fusion protein (BCR/ABL fusion) mRNA, exons, 2 and partial cds.M14752 - Human c-abl gene, complete cds.M30833 - Human abl protein mRNA, 5' end.X16416 - Human c-abl mRNA encoding p150 protein.M14754 - Human abl mRNA containing alternative first exons.AY789120 - Homo sapiens BCR/ABL fusion mRNA sequence.M14755 - Homo sapiens ABL1 protein (ABL1) mRNA, partial cds.MH743144 - Homo sapiens BCR/ABL1 e1a2 fusion protein mRNA, partial cds.MH401088 - Homo sapiens BCR-ABL1 p190 mRNA, partial cds.AF113911 - Homo sapiens BCR-ABL1 e1a2 chimeric protein (BCR/ABL fusion) mRNA, partial cds.DL225921 - METHOD AND REAGENT FOR INHIBITING THE EXPRESSION OF DISEASE RELATED GENES.DL225922 - METHOD AND REAGENT FOR INHIBITING THE EXPRESSION OF DISEASE RELATED GENES.MF925339 - Homo sapiens BCR/ABL e8a2 fusion mRNA, partial sequence.EF158045 - Homo sapiens BCR/ABL p210 fusion protein (BCR/ABL fusion) mRNA, partial cds.KU375572 - Homo sapiens BCR/ABL1 fusion protein (bcr/abl1) mRNA, partial cds.KU705509 - Homo sapiens Bcr/Abl fusion protein (Bcr/Abl fusion) mRNA, partial cds.KU705510 - Homo sapiens Bcr/Abl fusion protein (Bcr/Abl fusion) mRNA, partial cds.AJ131467 - Homo sapiens partial mRNA for bcr-abl1 e13a2 chimeric protein.EU216066 - Homo sapiens BCR/ABL fusion protein isoform X9 (BCR/ABL fusion) mRNA, complete cds.EF423615 - Homo sapiens BCR/ABL fusion protein (BCR/ABL fusion) mRNA, partial cds.MH401089 - Homo sapiens nonfunctional BCR-ABL1 p210 mRNA, partial sequence.M13096 - Human chimeric bcr/c-abl fusion protein gene, exons 2-5.M25946 - Human chronic myelocytic leukemia c-abl oncogene breakpoint cluster region (bcr) DNA, partial cds.AJ131466 - Homo sapiens partial mRNA for bcr-abl1 e14a2 chimeric protein.EU216071 - Homo sapiens BCR/ABL fusion protein isoform Y5 (BCR/ABL fusion) mRNA, complete cds.EU394718 - Homo sapiens BCR/ABL e14a2 fusion protein (BCR/ABL fusion) mRNA, exons 12 through 14, a2, a3, a2 and partial cds.AM491360 - Homo sapiens partial mRNA for bcr-abl1 e14a3 chimeric protein.AM491361 - Homo sapiens partial mRNA for bcr-abl1 e1a3 chimeric protein.AY043457 - Homo sapiens BCR-ABL fusion protein (BCR-ABL fusion) mRNA, partial cds.AM491359 - Homo sapiens partial mRNA for bcr-abl1 e13a3 chimeric protein.KY287767 - Homo sapiens BCR-ABL1 fusion protein e13a3 mRNA, partial cds.EU216060 - Homo sapiens BCR/ABL fusion protein isoform X3 (BCR/ABL fusion) mRNA, complete cds.DQ898314 - Homo sapiens isolate e13a4 BCR/ABL fusion protein (BCR/ABL fusion) mRNA, partial cds, alternatively spliced.JX565024 - Homo sapiens isolate c-abl D276N c-ABL1 mRNA, partial cds.JX565025 - Homo sapiens isolate c-abl E279A c-ABL1 mRNA, partial cds.JF272500 - Homo sapiens isolate PTS2010 mutant BCR/ABL fusion protein mRNA, partial cds.FJ785401 - Homo sapiens isolate RRC2008 mutant BCR/ABL fusion protein mRNA, partial cds.AK095344 - Homo sapiens cDNA FLJ38025 fis, clone CTONG2013128.AK294983 - Homo sapiens cDNA FLJ58117 complete cds, highly similar to Proto-oncogene tyrosine-protein kinase ABL1 (EC 2.7.10.2).BC107069 - Homo sapiens c-abl oncogene 1, receptor tyrosine kinase, mRNA (cDNA clone IMAGE:40009788), partial cds.BC107070 - Homo sapiens c-abl oncogene 1, receptor tyrosine kinase, mRNA (cDNA clone IMAGE:40009791), partial cds.X51945 - H.sapiens c-abl mRNA 3'-fragment.JD022796 - Sequence 3820 from Patent EP1572962.JD027931 - Sequence 8955 from Patent EP1572962.JD486266 - Sequence 467290 from Patent EP1572962.JD346336 - Sequence 327360 from Patent EP1572962.JD210026 - Sequence 191050 from Patent EP1572962.JD416025 - Sequence 397049 from Patent EP1572962.JD510645 - Sequence 491669 from Patent EP1572962.JD423633 - Sequence 404657 from Patent EP1572962.JD123547 - Sequence 104571 from Patent EP1572962.JD209600 - Sequence 190624 from Patent EP1572962.JD516697 - Sequence 497721 from Patent EP1572962.JD070818 - Sequence 51842 from Patent EP1572962.JD403574 - Sequence 384598 from Patent EP1572962.JD422762 - Sequence 403786 from Patent EP1572962.JD045485 - Sequence 26509 from Patent EP1572962.JD426968 - Sequence 407992 from Patent EP1572962.JD023907 - Sequence 4931 from Patent EP1572962.JD035571 - Sequence 16595 from Patent EP1572962.JD309915 - Sequence 290939 from Patent EP1572962.JD187990 - Sequence 169014 from Patent EP1572962.JD495158 - Sequence 476182 from Patent EP1572962.JD078046 - Sequence 59070 from Patent EP1572962.JD492322 - Sequence 473346 from Patent EP1572962.JD415897 - Sequence 396921 from Patent EP1572962.JD063328 - Sequence 44352 from Patent EP1572962.JD077070 - Sequence 58094 from Patent EP1572962.JD469811 - Sequence 450835 from Patent EP1572962.JD437438 - Sequence 418462 from Patent EP1572962.JD072548 - Sequence 53572 from Patent EP1572962.JD269260 - Sequence 250284 from Patent EP1572962.JD493853 - Sequence 474877 from Patent EP1572962.JD456863 - Sequence 437887 from Patent EP1572962.JD127029 - Sequence 108053 from Patent EP1572962.JD106158 - Sequence 87182 from Patent EP1572962.JD069263 - Sequence 50287 from Patent EP1572962.JD487760 - Sequence 468784 from Patent EP1572962.JD227259 - Sequence 208283 from Patent EP1572962.JD255630 - Sequence 236654 from Patent EP1572962.AF533988 - Homo sapiens BCRE3/ABL1A11 fusion protein (BCR/ABL1 fusion) mRNA, partial cds.JD193841 - Sequence 174865 from Patent EP1572962.JD128034 - Sequence 109058 from Patent EP1572962.JD219751 - Sequence 200775 from Patent EP1572962.JD452490 - Sequence 433514 from Patent EP1572962.JD190905 - Sequence 171929 from Patent EP1572962.JD136593 - Sequence 117617 from Patent EP1572962.JD464359 - Sequence 445383 from Patent EP1572962.MP015186 - Sequence 389 from Patent WO2019016252.
Biochemical and Signaling Pathways
Other Names for This Gene
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_007313.2
exon count:
11 CDS single in 3' UTR:
no
RNA size:
5881
ORF size:
3450 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
6203.50 frame shift in genome:
no
% Coverage:
100.00
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.