P03949

SS
Gene name
abl-1 (M79.1)
Protein name
Tyrosine-protein kinase abl-1
Names
EC 2.7.10.2
Species
Caenorhabditis elegans
KEGG Pathway
EC number
2.7.10.2: Protein-tyrosine kinases
Protein Class

Descriptions

Tyrosine-protein kinase abl-1 (abl-1) is annotated based on its experimentally validated activation loop, which is expected to act as accessory element in the autoinhibition of abl-1.

Autoinhibitory domains (AIDs)

Accessory elements

449-473 (Activation loop from InterPro)

Target domain

311-562 (Tyrosine-protein kinase, catalytic domain)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

1 structures for P03949

Entry ID Method Resolution Chain Position Source
AF-P03949-F1 Predicted AlphaFoldDB

No variants for P03949

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for P03949

3 associated diseases with P03949

[MIM: 611553]: Noonan syndrome 5 (NS5)

A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:17603482, ECO:0000269|PubMed:17603483, ECO:0000269|PubMed:20683980}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 611554]: LEOPARD syndrome 2 (LPRD2)

A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:17603483}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 615916]: Cardiomyopathy, dilated 1NN (CMD1NN)

A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:24777450}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:17603482, ECO:0000269|PubMed:17603483, ECO:0000269|PubMed:20683980}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:17603483}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:24777450}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for P03949

Type Name Position InterPro Accession
domain Zinc finger, RING-type 184 - 232 IPR001841-1
domain Zinc finger, RING-type 274 - 345 IPR001841-2
domain IBR domain 254 - 315 IPR002867-1
domain IBR domain 323 - 387 IPR002867-2
domain TRIAD supradomain 180 - 391 IPR044066
domain Ariadne domain 401 - 522 IPR045840

Functions

Description
EC Number 2.7.10.2 Protein-tyrosine kinases
Subcellular Localization
  • Cell membrane
  • Cytoplasm
  • Enriched at the leading edge compared to cytoplasm
  • Targeted to the leading edge of Q neuroblasts by mig-13
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
non-membrane spanning protein tyrosine kinase activity Catalysis of the reaction
protein tyrosine kinase activity Catalysis of the reaction

10 GO annotations of biological process

Name Definition
defense response to fungus Reactions triggered in response to the presence of a fungus that act to protect the cell or organism.
defense response to Gram-negative bacterium Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism.
DNA damage checkpoint signaling A signal transduction process that contributes to a DNA damage checkpoint.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of DNA damage response, signal transduction by p53 class mediator Any process that stops, prevents, or reduces the frequency, rate or extent of the cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage.
negative regulation of engulfment of apoptotic cell Any process that stops, prevents or reduces the frequency, rate or extent of engulfment of apoptotic cell.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
response to ionizing radiation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

12 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P00522 Abl Tyrosine-protein kinase Abl Drosophila melanogaster (Fruit fly) SS
P00519 ABL1 Tyrosine-protein kinase ABL1 Homo sapiens (Human) EV
P42684 ABL2 Tyrosine-protein kinase ABL2 Homo sapiens (Human) SS
P00520 Abl1 Tyrosine-protein kinase ABL1 Mus musculus (Mouse) EV
Q4JIM5 Abl2 Tyrosine-protein kinase ABL2 Mus musculus (Mouse) SS
Q8I7I5 rol-3 Protein roller-3 Caenorhabditis elegans PR
O45539 src-2 Tyrosine protein-kinase src-2 Caenorhabditis elegans SS
O01798 spe-8 Spermatocyte protein spe-8 Caenorhabditis elegans PR
G5ECJ6 csk-1 Tyrosine-protein kinase csk-1 Caenorhabditis elegans SS
G5EE56 src-1 Tyrosine protein-kinase src-1 Caenorhabditis elegans SS
O16262 nipi-4 Protein nipi-4 Caenorhabditis elegans PR
Q95YD4 kin-32 Inactive tyrosine-protein kinase kin-32 Caenorhabditis elegans PR
10 20 30 40 50 60
MGHSHSTGKE INDNELFTCE DPVFDQPVAS PKSEISSKLA EEIERSKSPL ILEVSPRTPD
70 80 90 100 110 120
SVQMFRPTFD TFRPPNSDSS TFRGSQSRED LVACSSMNSV NNVHDMNTVS SSSSSSAPLF
130 140 150 160 170 180
VALYDFHGVG EEQLSLRKGD QVRILGYNKN NEWCEARLYS TRKNDASNQR RLGEIGWVPS
190 200 210 220 230 240
NFIAPYNSLD KYTWYHGKIS RSDSEAILGS GITGSFLVRE SETSIGQYTI SVRHDGRVFH
250 260 270 280 290 300
YRINVDNTEK MFITQEVKFR TLGELVHHHS VHADGLICLL MYPASKKDKG RGLFSLSPNA
310 320 330 340 350 360
PDEWELDRSE IIMHNKLGGG QYGDVYEGYW KRHDCTIAVK ALKEDAMPLH EFLAEAAIMK
370 380 390 400 410 420
DLHHKNLVRL LGVCTHEAPF YIITEFMCNG NLLEYLRRTD KSLLPPIILV QMASQIASGM
430 440 450 460 470 480
SYLEARHFIH RDLAARNCLV SEHNIVKIAD FGLARFMKED TYTAHAGAKF PIKWTAPEGL
490 500 510 520 530 540
AFNTFSSKSD VWAFGVLLWE IATYGMAPYP GVELSNVYGL LENGFRMDGP QGCPPSVYRL
550 560 570 580 590 600
MLQCWNWSPS DRPRFRDIHF NLENLISSNS LNDEVQKQLK KNNDKKLESD KRRSNVRERS
610 620 630 640 650 660
DSKSRHSSHH DRDRDRESLH SRNSNPEIPN RSFIRTDDSV SFFNPSTTSK VTSFRAQGPP
670 680 690 700 710 720
FPPPPQQNTK PKLLKSVLNS NARHASEEFE RNEQDDVVPL AEKNVRKAVT RLGGTMPKGQ
730 740 750 760 770 780
RIDAYLDSMR RVDSWKESTD ADNEGAGSSS LSRTVSNDSL DTLPLPDSMN SSTYVKMHPA
790 800 810 820 830 840
SGENVFLRQI RSKLKKRSET PELDHIDSDT ADETTKSEKS PFGSLNKSSI KYPIKNAPEF
850 860 870 880 890 900
SENHSRVSPV PVPPSRNASV SVRPDSKAED SSDETTKDVG MWGPKHAVTR KIEIVKNDSY
910 920 930 940 950 960
PNVEGELKAK IRNLRHVPKE ESNTSSQEDL PLDATDNTND SIIVIPRDEK AKVRQLVTQK
970 980 990 1000 1010 1020
VSPLQHHRPF SLQCPNNSTS SAISHSEHAD SSETSSLSGV YEERMKPELP RKRSNGDTKV
1030 1040 1050 1060 1070 1080
VPVTWIINGE KEPNGMARTK SLRDITSKFE QLGTASTIES KIEEAVPYRE HALEKKGTSK
1090 1100 1110 1120 1130 1140
RFSMLEGSNE LKHVVPPRKN RNQDESGSID EEPVSKDMIV SLLKVIQKEF VNLFNLASSE
1150 1160 1170 1180 1190 1200
ITDEKLQQFV IMADNVQKLH STCSVYAEQI SPHSKFRFKE LLSQLEIYNR QIKFSHNPRA
1210 1220
KPVDDKLKMA FQDCFDQIMR LVDR