This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined ... See more...

Aliases for ODC1 Gene

Aliases for ODC1 Gene

  • Ornithine Decarboxylase 1 2 3 5
  • ODC 2 3 4
  • Ornithine Decarboxylase 3 4
  • EC 4.1.1.17 4 50
  • NEDBIA 3
  • NEDBA 3
  • BABS 3
  • ODC1 5

External Ids for ODC1 Gene

Previous GeneCards Identifiers for ODC1 Gene

  • GC02M010365
  • GC02M010631
  • GC02M010602
  • GC02M010531
  • GC02M010497
  • GC02M010580

Summaries for ODC1 Gene

Entrez Gene Summary for ODC1 Gene

  • This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013]

GeneCards Summary for ODC1 Gene

ODC1 (Ornithine Decarboxylase 1) is a Protein Coding gene. Diseases associated with ODC1 include Bachmann-Bupp Syndrome and Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome. Among its related pathways are Validated targets of C-MYC transcriptional activation and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ornithine decarboxylase activity. An important paralog of this gene is AZIN2.

UniProtKB/Swiss-Prot Summary for ODC1 Gene

  • Catalyzes the first and rate-limiting step of polyamine biosynthesis that converts ornithine into putrescine, which is the precursor for the polyamines, spermidine and spermine. Polyamines are essential for cell proliferation and are implicated in cellular processes, ranging from DNA replication to apoptosis.

Gene Wiki entry for ODC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ODC1 Gene

Genomics for ODC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ODC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J010445 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.2 155 6.1 SP1 ZNF207 MYC ZNF600 ZNF592 KLF9 POLR2A CEBPA ZNF10 ATF3 ODC1-DT ODC1 SNORA80B lnc-NOL10-3 ENSG00000206898 HPCAL1
GH02J010493 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11 -46.4 -46374 3.4 SSRP1 CEBPA CEBPB DEK ZFP64 MAX EP300 FOXA2 SMAD4 SAP130 ODC1 SNORA80B NOL10 HSALNG0012982 HSALNG0012985
GH02J010487 Enhancer 1.1 Ensembl ENCODE 11.4 -38.8 -38774 1.4 ZMYM3 CEBPA JUND CHD4 CEBPB FOXA1 KLF11 HOMEZ ZNF217 THAP11 HSALNG0012983 ODC1 SNORA80B HSALNG0012982 piR-43164-036 NOL10
GH02J010477 Enhancer 0.8 Ensembl ENCODE 12.2 -29.9 -29874 3.2 ZIC2 ZNF341 SAP130 RARA TEAD3 ZFP91 DRAP1 MAX ZNF24 NR2F6 piR-43164-036 ODC1 SNORA80B HSALNG0012983 NOL10
GH02J010490 Enhancer 0.9 Ensembl ENCODE 10.8 -42.4 -42445 1.5 IKZF1 CEBPA HES1 ELF1 CTBP1 SMAD4 SAP130 RARA NFE2 NFE2L2 HSALNG0012982 SNORA80B ODC1 HSALNG0012985 NOL10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ODC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ODC1

Top Transcription factor binding sites by QIAGEN in the ODC1 gene promoter:
  • AML1a
  • En-1
  • FOXO4
  • Ik-3
  • Lmo2
  • Nkx3-1 v1
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha2
  • STAT3

Genomic Locations for ODC1 Gene

Latest Assembly
chr2:10,439,968-10,448,327
(GRCh38/hg38)
Size:
8,360 bases
Orientation:
Minus strand

Previous Assembly
chr2:10,580,094-10,588,453
(GRCh37/hg19 by Entrez Gene)
Size:
8,360 bases
Orientation:
Minus strand

chr2:10,580,094-10,588,630
(GRCh37/hg19 by Ensembl)
Size:
8,537 bases
Orientation:
Minus strand

Genomic View for ODC1 Gene

Genes around ODC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ODC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ODC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ODC1 Gene

Proteins for ODC1 Gene

  • Protein details for ODC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11926-DCOR_HUMAN
    Recommended name:
    Ornithine decarboxylase
    Protein Accession:
    P11926
    Secondary Accessions:
    • Q53TU3
    • Q6LDS9

    Protein attributes for ODC1 Gene

    Size:
    461 amino acids
    Molecular mass:
    51148 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer. Only the dimer is catalytically active, as the active sites are constructed of residues from both monomers (Probable). Does not form a heterodimer with AZIN2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for ODC1 Gene

neXtProt entry for ODC1 Gene

Selected DME Specific Peptides for ODC1 Gene

P11926:
  • DCASKTEIQLVQ
  • AASTFNGF
  • GVSFHVGSG
  • GSDDEDES
  • SQIKYAA
  • LDEGFTAKDILDQKINEVS
  • IWGPTCD
  • AEPGRYYVASAFTLAVN
  • LKKHLRWLKALP
  • KLKFEEIT
  • LDIGGGF
  • SDDKDAFYVAD
  • SDARCVFDM
  • ELMKVAR
  • RLSVKFGA
  • GAYTVAAAS
  • DGVYGSFN
  • VLRIATDDSK

Post-translational modifications for ODC1 Gene

  • S-Nitrosylation inhibits the enzyme. S-Nitrosylated in vitro on 4 cysteine residues.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ODC1 Gene

Domains & Families for ODC1 Gene

Gene Families for ODC1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ODC1 Gene

InterPro:
Blocks:
  • Orn/DAP/Arg decarboxylase, family 2
  • Ornithine decarboxylase signature

Suggested Antigen Peptide Sequences for ODC1 Gene

GenScript: Design optimal peptide antigens:
  • Ornithine decarboxylase (DCOR_HUMAN)
  • cDNA, FLJ93177, Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA (Q53TU3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11926

UniProtKB/Swiss-Prot:

DCOR_HUMAN :
  • Belongs to the Orn/Lys/Arg decarboxylase class-II family.
Family:
  • Belongs to the Orn/Lys/Arg decarboxylase class-II family.
genes like me logo Genes that share domains with ODC1: view

Function for ODC1 Gene

Molecular function for ODC1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the first and rate-limiting step of polyamine biosynthesis that converts ornithine into putrescine, which is the precursor for the polyamines, spermidine and spermine. Polyamines are essential for cell proliferation and are implicated in cellular processes, ranging from DNA replication to apoptosis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + L-ornithine = CO2 + putrescine; Xref=Rhea:RHEA:22964, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:46911, ChEBI:CHEBI:326268; EC=4.1.1.17; Evidence={ECO:0000269|PubMed:17407445};.
UniProtKB/Swiss-Prot Induction:
Down-regulated in response to enterovirus 71 (EV71) infection (at protein level).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.08 mM for L-ornithine {ECO:0000269|PubMed:17407445}; Note=kcat is 3.3 sec(-1) with L-ornithine as substrate. {ECO:0000269|PubMed:17407445};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by S-nitrosylation (PubMed:10462479, PubMed:11461922). Inhibited by antizymes (AZs) OAZ1, OAZ2 and OAZ3 in response to polyamine levels. AZs inhibit the assembly of the functional homodimer by binding to ODC monomers. Additionally, OAZ1 targets ODC monomers for ubiquitin-independent proteolytic destruction by the 26S proteasome (PubMed:17900240). Inhibited by 1-amino-oxy-3-aminopropane (APA, an isosteric analog of putrescine) (PubMed:17407445). Irreversibly inhibited by alpha-difluoromethylornithine (DFMO) (PubMed:17407445).
GENATLAS Biochemistry:
ornithine decarboxylase 1,ornithine metabolism,mitochondrial matrix

Enzyme Numbers (IUBMB) for ODC1 Gene

Phenotypes From GWAS Catalog for ODC1 Gene

Gene Ontology (GO) - Molecular Function for ODC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004586 ornithine decarboxylase activity TAS 2317811
GO:0005515 protein binding IPI 25416956
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
genes like me logo Genes that share ontologies with ODC1: view
genes like me logo Genes that share phenotypes with ODC1: view

Human Phenotype Ontology for ODC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ODC1 Gene

MGI Knock Outs for ODC1:
  • Odc1 Odc1<tm1Jlc>
  • Odc1 Odc1<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ODC1

No data available for Transcription Factor Targets and HOMER Transcription for ODC1 Gene

Localization for ODC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ODC1 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ODC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IBA,ISS --
GO:0005829 cytosol TAS --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with ODC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ODC1 Gene

Pathways & Interactions for ODC1 Gene

genes like me logo Genes that share pathways with ODC1: view

UniProtKB/Swiss-Prot P11926-DCOR_HUMAN

  • Pathway: Amine and polyamine biosynthesis; putrescine biosynthesis via L-ornithine pathway; putrescine from L-ornithine: step 1/1.

SIGNOR curated interactions for ODC1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ODC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006521 regulation of cellular amino acid metabolic process TAS --
GO:0006595 polyamine metabolic process TAS --
GO:0006596 polyamine biosynthetic process IEA --
GO:0009446 putrescine biosynthetic process IEA --
GO:0009615 response to virus IEP 16548883
genes like me logo Genes that share ontologies with ODC1: view

Drugs & Compounds for ODC1 Gene

(94) Drugs for ODC1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Eflornithine Approved, Withdrawn Pharma Target, antagonist, blocker, inhibitor 41
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 18
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Ornithine Approved Nutra 87
Benserazide Approved, Investigational Pharma Inhibitor, Inhibition 27

(79) Additional Compounds for ODC1 Gene - From: Novoseek, HMDB, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
DFMO
Inhibitor, Inhibition 68278-23-9
1,3-diaminopropane
  • 1,3-Propanediamine
  • 1,3-Propylenediamine
  • Propane-1,3-diamine
  • tn
  • Trimethylenediamine
109-76-2
N1-acetylspermine
  • N'-acetylspermine
  • N'-monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-acetamide
  • N-Acetylspermine
25593-72-0
Norspermidine
  • 1,7-Diamino-4-azaheptane
  • 3,3'-Iminobis(propylamine)
  • 3,3'-Iminobispropylamine
  • 3,3'-Iminodi(propylamine)
  • 3,3-Diaminodipropylamine
56-18-8
genes like me logo Genes that share compounds with ODC1: view

Transcripts for ODC1 Gene

mRNA/cDNA for ODC1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ODC1

Alternative Splicing Database (ASD) splice patterns (SP) for ODC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a ·
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - -
SP4: - -
SP5: - - - - - -
SP6: - - - - -
SP7:
SP8:
SP9: -
SP10:
SP11: - - - - - - - - -
SP12: - - - - - - -
SP13: -
SP14:

ExUns: 15b ^ 16 ^ 17a · 17b ^ 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for ODC1 Gene

GeneLoc Exon Structure for
ODC1

Expression for ODC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ODC1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ODC1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ODC1

SOURCE GeneReport for Unigene cluster for ODC1 Gene:

Hs.467701

Evidence on tissue expression from TISSUES for ODC1 Gene

  • Nervous system(4.6)
  • Lung(4.2)
  • Intestine(4.1)
  • Skin(4)
  • Eye(3.7)
  • Pancreas(3.5)
  • Liver(3.3)
  • Stomach(3.2)
  • Kidney(3)
  • Muscle(2.8)
  • Heart(2.7)
  • Blood(2.7)
  • Bone marrow(2.7)
  • Spleen(2.6)
  • Lymph node(2.6)
  • Thyroid gland(2.5)
  • Adrenal gland(2.3)
genes like me logo Genes that share expression patterns with ODC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ODC1 Gene

Orthologs for ODC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ODC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ODC1 29 30
  • 99.57 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 91 (a)
OneToMany
-- 30
  • 91 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia ODC1 29 30
  • 89.01 (n)
OneToMany
-- 30
  • 77 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia ODC1 30
  • 89 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ODC1 29 30
  • 88.94 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Odc1 29 16 30
  • 86.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Odc1 29
  • 86.62 (n)
Chicken
(Gallus gallus)
Aves ODC1 29 30
  • 78.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ODC1 30
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia odc1 29
  • 74.73 (n)
African clawed frog
(Xenopus laevis)
Amphibia odc1-prov 29
Zebrafish
(Danio rerio)
Actinopterygii odc1 29 30
  • 67.25 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5110 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011805 29
  • 52.63 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Odc1 29 30 31
  • 51.63 (n)
ManyToMany
Odc2 30 31
  • 41 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea odc-1 29 31
  • 53.91 (n)
F53F10.2a 31
  • 28 (a)
F53F10.2 30
  • 24 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02673g 29
  • 54.12 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPE1 29 30 32
  • 52.38 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER087C 29
  • 51.52 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0543400 29
  • 49.54 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spe1 29
  • 55.18 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01271 29
  • 53.09 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10349 30
  • 43 (a)
OneToMany
Species where no ortholog for ODC1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ODC1 Gene

ENSEMBL:
Gene Tree for ODC1 (if available)
TreeFam:
Gene Tree for ODC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ODC1: view image
Alliance of Genome Resources:
Additional Orthologs for ODC1

Paralogs for ODC1 Gene

Paralogs for ODC1 Gene

(2) SIMAP similar genes for ODC1 Gene using alignment to 3 proteins:

  • DCOR_HUMAN
  • C9JG30_HUMAN
  • L8EA08_HUMAN

Pseudogenes.org Pseudogenes for ODC1 Gene

genes like me logo Genes that share paralogs with ODC1: view

Variants for ODC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ODC1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
978044 Likely Pathogenic: Bachmann-Bupp syndrome 10,440,793(-) CACAG/C
NM_002539.3(ODC1):c.1313_1316del (p.Pro438fs)
FRAMESHIFT
983285 Pathogenic: Neurodevelopmental disorder with alopecia and brain abnormalities 10,441,508(-) C/A
NM_002539.3(ODC1):c.1241+1G>T
SPLICE_DONOR
983286 Pathogenic: Neurodevelopmental disorder with alopecia and brain abnormalities 10,441,508(-) C/CCA
NM_002539.3(ODC1):c.1240_1241dup (p.Trp414fs)
FRAMESHIFT
983287 Pathogenic: Neurodevelopmental disorder with alopecia and brain abnormalities 10,440,855(-) G/A
NM_002539.3(ODC1):c.1255C>T (p.Gln419Ter)
NONSENSE
983288 Pathogenic: Neurodevelopmental disorder with alopecia and brain abnormalities 10,440,846(-) TCTGGAATTGCTGCAT
NM_001287190.1:c.1242_1263del22

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ODC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ODC1 Gene

Variant ID Type Subtype PubMed ID
esv23515 CNV loss 19812545
nsv1007185 CNV gain 25217958
nsv1072922 CNV deletion 25765185
nsv580963 CNV gain 21841781
nsv580964 CNV gain+loss 21841781
nsv580965 CNV gain 21841781
nsv580966 CNV loss 21841781
nsv580967 CNV loss 21841781

Variation tolerance for ODC1 Gene

Residual Variation Intolerance Score: 6.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ODC1 Gene

Human Gene Mutation Database (HGMD)
ODC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ODC1
Leiden Open Variation Database (LOVD)
ODC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ODC1 Gene

Disorders for ODC1 Gene

MalaCards: The human disease database

(36) MalaCards diseases for ODC1 Gene - From: OMI, CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search ODC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ODC1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ODC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ODC1 Gene

Publications for ODC1 Gene

  1. Genetic polymorphism in ornithine decarboxylase and risk of breast cancer. (PMID: 19225907) Brown I … Schofield AC (Familial cancer 2009) 3 22 40
  2. Ornithine decarboxylase polymorphism modification of response to aspirin treatment for colorectal adenoma prevention. (PMID: 17047198) Barry EL … O'Brien TG (Journal of the National Cancer Institute 2006) 3 22 40
  3. Pronounced reduction in adenoma recurrence associated with aspirin use and a polymorphism in the ornithine decarboxylase gene. (PMID: 12810952) Martinez ME … Gerner EW (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 22 40
  4. Nitric oxide inhibits ornithine decarboxylase via S-nitrosylation of cysteine 360 in the active site of the enzyme. (PMID: 11461922) Bauer PM … Ignarro LJ (The Journal of biological chemistry 2001) 3 4 22
  5. Crystal structure of human ornithine decarboxylase at 2.1 A resolution: structural insights to antizyme binding. (PMID: 10623504) Almrud JJ … Hackert ML (Journal of molecular biology 2000) 3 4 22

Products for ODC1 Gene

Sources for ODC1 Gene