UniProtKB - P52429 (DGKE_HUMAN)
Protein
Diacylglycerol kinase epsilon
Gene
DGKE
Organism
Homo sapiens (Human)
Status
Functioni
Membrane-bound diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:15544348, PubMed:19744926, PubMed:22108654, PubMed:21477596, PubMed:23949095). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (PubMed:8626589, PubMed:15544348). Also plays an important role in the biosynthesis of complex lipids (PubMed:8626589). Displays specificity for diacylglycerol substrates with an arachidonoyl acyl chain at the sn-2 position, with the highest activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol the main diacylglycerol intermediate within the phosphatidylinositol turnover cycle (PubMed:19744926, PubMed:22108654, PubMed:23274426). Can also phosphorylate diacylglycerol substrates with a linoleoyl acyl chain at the sn-2 position but much less efficiently (PubMed:22108654).2 Publications6 Publications
Catalytic activityi
- EC:2.7.1.1076 PublicationsThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol + ATP = 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + ADP + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol + ATP = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + ADP + H+6 PublicationsThis reaction proceeds in the forward1 Publication direction.
- 1-eicosanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycerol + ATP = 1-eicosanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphate + ADP + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1,2-di-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycerol + ATP = 1,2-di-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphate + ADP + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-octadecanoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycerol + ATP = 1-octadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphate + ADP + H+2 PublicationsThis reaction proceeds in the forward1 Publication direction.
- 1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycerol + ATP = 1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphate + ADP + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1,2-di-(9Z-octadecenoyl)-sn-glycerol + ATP = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + ADP + H+2 PublicationsThis reaction proceeds in the forward1 Publication direction.
Activity regulationi
Undergoes competitive inhibition by its own product 1,2-diacyl-sn-glycero-3-phosphate/phosphatidic acid. The strongest inhibition being observed in vitro with 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate, a major intermediate in the phosphatidylinositol turnover cycle and more generally by diacylglycerols with an arachidonoyl acyl chain at the sn-2 position.1 Publication
: glycerolipid metabolism Pathwayi
This protein is involved in the pathway glycerolipid metabolism, which is part of Lipid metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway glycerolipid metabolism and in Lipid metabolism.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 59 – 108 | Phorbol-ester/DAG-type 1PROSITE-ProRule annotationAdd BLAST | 50 | |
Zinc fingeri | 124 – 177 | Phorbol-ester/DAG-type 2PROSITE-ProRule annotationAdd BLAST | 54 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- diacylglycerol kinase activity Source: UniProtKB
- kinase activity Source: BHF-UCL
- metal ion binding Source: UniProtKB-KW
- NAD+ kinase activity Source: InterPro
GO - Biological processi
- diacylglycerol metabolic process Source: UniProtKB
- intracellular signal transduction Source: GO_Central
- lipid phosphorylation Source: UniProtKB
- modulation of chemical synaptic transmission Source: Ensembl
- phosphatidic acid biosynthetic process Source: UniProtKB
- phosphatidylinositol biosynthetic process Source: Ensembl
- platelet activation Source: Reactome
- protein kinase C-activating G protein-coupled receptor signaling pathway Source: InterPro
Keywordsi
Molecular function | Kinase, Transferase |
Ligand | ATP-binding, Metal-binding, Nucleotide-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 2.7.1.107, 2681 |
PathwayCommonsi | P52429 |
Reactomei | R-HSA-114508, Effects of PIP2 hydrolysis |
UniPathwayi | UPA00230 |
Chemistry databases
SwissLipidsi | SLP:000000546 |
Names & Taxonomyi
Protein namesi | Recommended name: Diacylglycerol kinase epsilon (EC:2.7.1.1076 Publications)Short name: DAG kinase epsilon Alternative name(s): Diglyceride kinase epsilon Short name: DGK-epsilon |
Gene namesi | Name:DGKE Synonyms:DAGK5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2852, DGKE |
MIMi | 601440, gene |
neXtProti | NX_P52429 |
VEuPathDBi | HostDB:ENSG00000153933.9 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Other locations
- Membrane 1 Publication; Single-pass membrane protein Sequence analysis
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- cytoplasm Source: UniProtKB
- glutamatergic synapse Source: Ensembl
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 22 – 42 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Nephrotic syndrome 7 (NPHS7)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. NPHS7 is an autosomal recessive form characterized by onset of proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis.
Related information in OMIMHemolytic uremic syndrome atypical 7 (AHUS7)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionAn atypical form of hemolytic uremic syndrome characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069804 | 63 | R → P in AHUS7. 1 PublicationCorresponds to variant dbSNP:rs312262694EnsemblClinVar. | 1 | |
Natural variantiVAR_069805 | 273 | R → P in AHUS7. 1 PublicationCorresponds to variant dbSNP:rs312262695EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 431 | L → I: Decreased diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol. 1 Publication | 1 | |
Mutagenesisi | 431 | L → S: Loss of diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol. 1 Publication | 1 | |
Mutagenesisi | 438 | L → I: Decreased diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol. 1 Publication | 1 | |
Mutagenesisi | 438 | L → M: Decreased protein abundance and diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol. 1 Publication | 1 | |
Mutagenesisi | 438 | L → S, A or G: Loss of diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol. 1 Publication | 1 | |
Mutagenesisi | 439 | P → G: Decreased diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Hemolytic uremic syndromeOrganism-specific databases
DisGeNETi | 8526 |
GeneReviewsi | DGKE |
MalaCardsi | DGKE |
MIMi | 615008, phenotype |
OpenTargetsi | ENSG00000153933 |
Orphaneti | 357008, Hemolytic uremic syndrome with DGKE deficiency 329903, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
PharmGKBi | PA27313 |
Miscellaneous databases
Pharosi | P52429, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1075187 |
DrugBanki | DB14001, alpha-Tocopherol succinate |
Genetic variation databases
BioMutai | DGKE |
DMDMi | 1708625 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000218464 | 1 – 567 | Diacylglycerol kinase epsilonAdd BLAST | 567 |
Proteomic databases
EPDi | P52429 |
jPOSTi | P52429 |
MassIVEi | P52429 |
MaxQBi | P52429 |
PaxDbi | P52429 |
PeptideAtlasi | P52429 |
PRIDEi | P52429 |
ProteomicsDBi | 56484 [P52429-1] 74029 |
PTM databases
iPTMneti | P52429 |
PhosphoSitePlusi | P52429 |
SwissPalmi | P52429 |
Expressioni
Tissue specificityi
Expressed predominantly in testis. Expressed in endothelium, platelets and podocytes (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000153933, Expressed in middle temporal gyrus and 207 other tissues |
ExpressionAtlasi | P52429, baseline and differential |
Genevisiblei | P52429, HS |
Organism-specific databases
HPAi | ENSG00000153933, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 114096, 39 interactors |
IntActi | P52429, 11 interactors |
STRINGi | 9606.ENSP00000284061 |
Miscellaneous databases
RNActi | P52429, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 215 – 356 | DAGKcPROSITE-ProRule annotationAdd BLAST | 142 |
Sequence similaritiesi
Belongs to the eukaryotic diacylglycerol kinase family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 59 – 108 | Phorbol-ester/DAG-type 1PROSITE-ProRule annotationAdd BLAST | 50 | |
Zinc fingeri | 124 – 177 | Phorbol-ester/DAG-type 2PROSITE-ProRule annotationAdd BLAST | 54 |
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helix, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1169, Eukaryota |
GeneTreei | ENSGT00940000158604 |
HOGENOMi | CLU_1517427_0_0_1 |
InParanoidi | P52429 |
OMAi | WVLNTIY |
OrthoDBi | 1275907at2759 |
PhylomeDBi | P52429 |
TreeFami | TF313104 |
Family and domain databases
CDDi | cd00029, C1, 2 hits |
Gene3Di | 3.40.50.10330, 1 hit |
InterProi | View protein in InterPro IPR017438, ATP-NAD_kinase_N IPR037607, DGK IPR000756, Diacylglycerol_kin_accessory IPR001206, Diacylglycerol_kinase_cat_dom IPR016064, NAD/diacylglycerol_kinase_sf IPR002219, PE/DAG-bd |
PANTHERi | PTHR11255, PTHR11255, 1 hit |
Pfami | View protein in Pfam PF00130, C1_1, 1 hit PF00609, DAGK_acc, 1 hit PF00781, DAGK_cat, 1 hit |
SMARTi | View protein in SMART SM00109, C1, 2 hits SM00045, DAGKa, 1 hit SM00046, DAGKc, 1 hit |
SUPFAMi | SSF111331, SSF111331, 1 hit |
PROSITEi | View protein in PROSITE PS50146, DAGK, 1 hit PS00479, ZF_DAG_PE_1, 2 hits PS50081, ZF_DAG_PE_2, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P52429-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEAERRPAPG SPSEGLFADG HLILWTLCSV LLPVFITFWC SLQRSRRQLH
60 70 80 90 100
RRDIFRKSKH GWRDTDLFSQ PTYCCVCAQH ILQGAFCDCC GLRVDEGCLR
110 120 130 140 150
KADKRFQCKE IMLKNDTKVL DAMPHHWIRG NVPLCSYCMV CKQQCGCQPK
160 170 180 190 200
LCDYRCIWCQ KTVHDECMKN SLKNEKCDFG EFKNLIIPPS YLTSINQMRK
210 220 230 240 250
DKKTDYEVLA SKLGKQWTPL IILANSRSGT NMGEGLLGEF RILLNPVQVF
260 270 280 290 300
DVTKTPPIKA LQLCTLLPYY SARVLVCGGD GTVGWVLDAV DDMKIKGQEK
310 320 330 340 350
YIPQVAVLPL GTGNDLSNTL GWGTGYAGEI PVAQVLRNVM EADGIKLDRW
360 370 380 390 400
KVQVTNKGYY NLRKPKEFTM NNYFSVGPDA LMALNFHAHR EKAPSLFSSR
410 420 430 440 450
ILNKAVYLFY GTKDCLVQEC KDLNKKVELE LDGERVALPS LEGIIVLNIG
460 470 480 490 500
YWGGGCRLWE GMGDETYPLA RHDDGLLEVV GVYGSFHCAQ IQVKLANPFR
510 520 530 540 550
IGQAHTVRLI LKCSMMPMQV DGEPWAQGPC TVTITHKTHA MMLYFSGEQT
560
DDDISSTSDQ EDIKATE
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L112 | I3L112_HUMAN | Diacylglycerol kinase | DGKE | 456 | Annotation score: | ||
I3L2V2 | I3L2V2_HUMAN | Diacylglycerol kinase epsilon | DGKE | 70 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069804 | 63 | R → P in AHUS7. 1 PublicationCorresponds to variant dbSNP:rs312262694EnsemblClinVar. | 1 | |
Natural variantiVAR_036120 | 99 | L → R in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_069805 | 273 | R → P in AHUS7. 1 PublicationCorresponds to variant dbSNP:rs312262695EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056957 | 156 – 177 | CIWCQ…KNEKC → YGLRGHSLSQNAPWESGFHR VV in isoform 2. 1 PublicationAdd BLAST | 22 | |
Alternative sequenceiVSP_056958 | 178 – 567 | Missing in isoform 2. 1 PublicationAdd BLAST | 390 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U49379 mRNA Translation: AAC50497.1 AC015912 Genomic DNA No translation available. AC106858 Genomic DNA No translation available. BC022297 mRNA Translation: AAH22297.1 AF136745 Genomic DNA Translation: AAD45666.1 |
CCDSi | CCDS11590.1 [P52429-1] |
RefSeqi | NP_003638.1, NM_003647.2 [P52429-1] |
Genome annotation databases
Ensembli | ENST00000284061; ENSP00000284061; ENSG00000153933 [P52429-1] ENST00000572810; ENSP00000459295; ENSG00000153933 [P52429-2] |
GeneIDi | 8526 |
KEGGi | hsa:8526 |
UCSCi | uc002iur.4, human [P52429-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U49379 mRNA Translation: AAC50497.1 AC015912 Genomic DNA No translation available. AC106858 Genomic DNA No translation available. BC022297 mRNA Translation: AAH22297.1 AF136745 Genomic DNA Translation: AAD45666.1 |
CCDSi | CCDS11590.1 [P52429-1] |
RefSeqi | NP_003638.1, NM_003647.2 [P52429-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114096, 39 interactors |
IntActi | P52429, 11 interactors |
STRINGi | 9606.ENSP00000284061 |
Chemistry databases
ChEMBLi | CHEMBL1075187 |
DrugBanki | DB14001, alpha-Tocopherol succinate |
SwissLipidsi | SLP:000000546 |
PTM databases
iPTMneti | P52429 |
PhosphoSitePlusi | P52429 |
SwissPalmi | P52429 |
Genetic variation databases
BioMutai | DGKE |
DMDMi | 1708625 |
Proteomic databases
EPDi | P52429 |
jPOSTi | P52429 |
MassIVEi | P52429 |
MaxQBi | P52429 |
PaxDbi | P52429 |
PeptideAtlasi | P52429 |
PRIDEi | P52429 |
ProteomicsDBi | 56484 [P52429-1] 74029 |
Protocols and materials databases
Antibodypediai | 2548, 235 antibodies |
DNASUi | 8526 |
Genome annotation databases
Ensembli | ENST00000284061; ENSP00000284061; ENSG00000153933 [P52429-1] ENST00000572810; ENSP00000459295; ENSG00000153933 [P52429-2] |
GeneIDi | 8526 |
KEGGi | hsa:8526 |
UCSCi | uc002iur.4, human [P52429-1] |
Organism-specific databases
CTDi | 8526 |
DisGeNETi | 8526 |
GeneCardsi | DGKE |
GeneReviewsi | DGKE |
HGNCi | HGNC:2852, DGKE |
HPAi | ENSG00000153933, Low tissue specificity |
MalaCardsi | DGKE |
MIMi | 601440, gene 615008, phenotype |
neXtProti | NX_P52429 |
OpenTargetsi | ENSG00000153933 |
Orphaneti | 357008, Hemolytic uremic syndrome with DGKE deficiency 329903, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
PharmGKBi | PA27313 |
VEuPathDBi | HostDB:ENSG00000153933.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1169, Eukaryota |
GeneTreei | ENSGT00940000158604 |
HOGENOMi | CLU_1517427_0_0_1 |
InParanoidi | P52429 |
OMAi | WVLNTIY |
OrthoDBi | 1275907at2759 |
PhylomeDBi | P52429 |
TreeFami | TF313104 |
Enzyme and pathway databases
UniPathwayi | UPA00230 |
BRENDAi | 2.7.1.107, 2681 |
PathwayCommonsi | P52429 |
Reactomei | R-HSA-114508, Effects of PIP2 hydrolysis |
Miscellaneous databases
BioGRID-ORCSi | 8526, 8 hits in 995 CRISPR screens |
ChiTaRSi | DGKE, human |
GenomeRNAii | 8526 |
Pharosi | P52429, Tbio |
PROi | PR:P52429 |
RNActi | P52429, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000153933, Expressed in middle temporal gyrus and 207 other tissues |
ExpressionAtlasi | P52429, baseline and differential |
Genevisiblei | P52429, HS |
Family and domain databases
CDDi | cd00029, C1, 2 hits |
Gene3Di | 3.40.50.10330, 1 hit |
InterProi | View protein in InterPro IPR017438, ATP-NAD_kinase_N IPR037607, DGK IPR000756, Diacylglycerol_kin_accessory IPR001206, Diacylglycerol_kinase_cat_dom IPR016064, NAD/diacylglycerol_kinase_sf IPR002219, PE/DAG-bd |
PANTHERi | PTHR11255, PTHR11255, 1 hit |
Pfami | View protein in Pfam PF00130, C1_1, 1 hit PF00609, DAGK_acc, 1 hit PF00781, DAGK_cat, 1 hit |
SMARTi | View protein in SMART SM00109, C1, 2 hits SM00045, DAGKa, 1 hit SM00046, DAGKc, 1 hit |
SUPFAMi | SSF111331, SSF111331, 1 hit |
PROSITEi | View protein in PROSITE PS50146, DAGK, 1 hit PS00479, ZF_DAG_PE_1, 2 hits PS50081, ZF_DAG_PE_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DGKE_HUMAN | |
Accessioni | P52429Primary (citable) accession number: P52429 Secondary accession number(s): Q8TBM4, Q9UKQ3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | October 1, 1996 | |
Last modified: | April 7, 2021 | |
This is version 184 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families