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Aliases for SCCPDH Gene

Aliases for SCCPDH Gene

  • Saccharopine Dehydrogenase (Putative) 2 3 5
  • Saccharopine Dehydrogenase-Like Oxidoreductase 3
  • Probable Saccharopine Dehydrogenase 3
  • EC 1.-.-.- 4
  • CGI-49 3
  • NET11 3

External Ids for SCCPDH Gene

Previous GeneCards Identifiers for SCCPDH Gene

  • GC01P243214
  • GC01P244953
  • GC01P246887
  • GC01P217253

Summaries for SCCPDH Gene

GeneCards Summary for SCCPDH Gene

SCCPDH (Saccharopine Dehydrogenase (Putative)) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include oxidoreductase activity.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCCPDH Gene

Genomics for SCCPDH Gene

Regulatory Elements for SCCPDH Gene

Enhancers for SCCPDH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G246723 1.3 Ensembl ENCODE 14.1 +2.4 2409 5.8 HDGF FOXA2 ARNT ARID4B SIN3A ZNF2 ZNF48 YY1 SLC30A9 ZNF143 SCCPDH ENSG00000260855 KIF28P PIR55920
GH01G246703 1.1 Ensembl ENCODE 12.5 -18.1 -18094 4.7 ELF3 FOXA2 NFIB RAD21 RFX5 YY1 RCOR1 FOS MIXL1 DEK SCCPDH KIF28P ENSG00000235021
GH01G246768 1.1 ENCODE 11 +45.2 45185 1.7 HNRNPUL1 HDGF CREB3L1 ARNT AGO1 ARID4B SIN3A YY1 ZNF766 CBX5 ZNF670-ZNF695 SCCPDH ENSG00000260855 RPL35AP6
GH01G246698 1.6 FANTOM5 Ensembl ENCODE 6.3 -24.9 -24894 1.5 PKNOX1 ATF1 FOXA2 ARNT WRNIP1 ARID4B ZNF121 ZNF143 KLF13 PAF1 ENSG00000235021 SCCPDH ENSG00000260855
GH01G246709 1.2 Ensembl ENCODE 7.7 -14.2 -14186 1.3 ELF3 FOXA2 ARID4B THRB RAD21 RARA YY1 SLC30A9 CREM MIXL1 SCCPDH ENSG00000235021
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SCCPDH on UCSC Golden Path with GeneCards custom track

Promoters for SCCPDH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000023153 453 1801 HDGF MLX ARNT ARID4B SIN3A ZNF2 ZNF48 YY1 SLC30A9 ZNF143

Genomic Location for SCCPDH Gene

Chromosome:
1
Start:
246,724,047 bp from pter
End:
246,768,137 bp from pter
Size:
44,091 bases
Orientation:
Plus strand

Genomic View for SCCPDH Gene

Genes around SCCPDH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SCCPDH Gene

Proteins for SCCPDH Gene

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

    Protein Symbol:
    Q8NBX0-SCPDL_HUMAN
    Recommended name:
    Saccharopine dehydrogenase-like oxidoreductase
    Protein Accession:
    Q8NBX0
    Secondary Accessions:
    • Q8TAR0
    • Q9Y363

    Protein attributes for SCCPDH Gene

    Size:
    429 amino acids
    Molecular mass:
    47151 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SCCPDH Gene

Post-translational modifications for SCCPDH Gene

  • Ubiquitination at isoforms=136, isoforms=242, and isoforms=394
  • Modification sites at PhosphoSitePlus

Other Protein References for SCCPDH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SCCPDH Gene

Domains & Families for SCCPDH Gene

Protein Domains for SCCPDH Gene

Suggested Antigen Peptide Sequences for SCCPDH Gene

Graphical View of Domain Structure for InterPro Entry

Q8NBX0

UniProtKB/Swiss-Prot:

SCPDL_HUMAN :
  • Belongs to the saccharopine dehydrogenase family.
Family:
  • Belongs to the saccharopine dehydrogenase family.
genes like me logo Genes that share domains with SCCPDH: view

No data available for Gene Families for SCCPDH Gene

Function for SCCPDH Gene

Enzyme Numbers (IUBMB) for SCCPDH Gene

Gene Ontology (GO) - Molecular Function for SCCPDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with SCCPDH: view
genes like me logo Genes that share phenotypes with SCCPDH: view

Animal Model Products

CRISPR Products

miRNA for SCCPDH Gene

miRTarBase miRNAs that target SCCPDH

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SCCPDH Gene

Localization for SCCPDH 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 SCCPDH gene
Compartment Confidence
mitochondrion 5
nucleus 5
extracellular 4
peroxisome 2
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SCCPDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IDA 20833797
GO:0005811 lipid particle IDA 14741744
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with SCCPDH: view

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

Pathways & Interactions for SCCPDH Gene

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

Gene Ontology (GO) - Biological Process for SCCPDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with SCCPDH: view

No data available for SIGNOR curated interactions for SCCPDH Gene

Drugs & Compounds for SCCPDH Gene

(2) Drugs for SCCPDH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

(1) Additional Compounds for SCCPDH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
saccharopine
  • (S)-N-(5-amino-5-carboxypentyl)-L-Glutamic acid
  • epsilon-N-(L-Glutar-2-yl)-L-lysine
  • L-N-(5-Amino-5-carboxypentyl)-Glutamic acid
  • L-Saccharopin
  • L-Saccharopine
997-68-2
genes like me logo Genes that share compounds with SCCPDH: view

Transcripts for SCCPDH Gene

mRNA/cDNA for SCCPDH Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(404) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SCCPDH Gene

Saccharopine dehydrogenase (putative):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b
SP1: -
SP2:
SP3: - -
SP4: -

Relevant External Links for SCCPDH Gene

GeneLoc Exon Structure for
SCCPDH
ECgene alternative splicing isoforms for
SCCPDH

Expression for SCCPDH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCCPDH Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.2).

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



Protein tissue co-expression partners for SCCPDH Gene

NURSA nuclear receptor signaling pathways regulating expression of SCCPDH Gene:

SCCPDH

SOURCE GeneReport for Unigene cluster for SCCPDH Gene:

Hs.498397

Evidence on tissue expression from TISSUES for SCCPDH Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Kidney(2)
genes like me logo Genes that share expression patterns with SCCPDH: view

Primer Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SCCPDH Gene

Orthologs for SCCPDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SCCPDH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCCPDH 34 35
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia SCCPDH 34 35
  • 89.12 (n)
dog
(Canis familiaris)
Mammalia SCCPDH 34 35
  • 88.34 (n)
mouse
(Mus musculus)
Mammalia Sccpdh 34 16 35
  • 87.8 (n)
rat
(Rattus norvegicus)
Mammalia Sccpdh 34
  • 86.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SCCPDH 35
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCCPDH 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCCPDH 34 35
  • 70.35 (n)
lizard
(Anolis carolinensis)
Reptilia SCCPDH 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sccpdh 34
  • 69.48 (n)
Str.94 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7722 34
zebrafish
(Danio rerio)
Actinopterygii sccpdha 34 35
  • 63 (n)
sccpdhb 35
  • 59 (a)
OneToMany
SCCPDH (2 of 3) 35
  • 53 (a)
OneToMany
sbcb4 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002652 34
  • 50.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2604 34 35
  • 48.66 (n)
CG5167 35
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F22F7.1 34 35
  • 47.57 (n)
Y50D4B.2 35
  • 34 (a)
OneToMany
F22F7.2 35
  • 33 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G39410 34
  • 48.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07563 34
  • 43.12 (n)
Species where no ortholog for SCCPDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SCCPDH Gene

ENSEMBL:
Gene Tree for SCCPDH (if available)
TreeFam:
Gene Tree for SCCPDH (if available)

Paralogs for SCCPDH Gene

No data available for Paralogs for SCCPDH Gene

Variants for SCCPDH Gene

Sequence variations from dbSNP and Humsavar for SCCPDH Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000015824 -- 246,754,231(+) GCTGC(A/G)GTGTG intron-variant
rs1000034512 -- 246,752,432(+) CTTGC(A/G)CTAAC intron-variant
rs1000101289 -- 246,762,023(+) GAGAG(G/T)TCCAG intron-variant
rs1000166600 -- 246,738,336(+) TGAAA(A/C)CCCAT intron-variant
rs1000199875 -- 246,733,867(+) GTCCT(A/G)TGCTC intron-variant

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

Variant ID Type Subtype PubMed ID
esv1000885 CNV deletion 20482838
esv1589537 CNV deletion 17803354
esv1933268 CNV deletion 18987734
esv2443936 CNV deletion 19546169
esv2660077 CNV deletion 23128226
esv2667587 CNV deletion 23128226
esv2727518 CNV deletion 23290073
esv2743351 CNV deletion 23290073
esv2762192 CNV gain 21179565
esv3575872 CNV gain 25503493
esv3589489 CNV loss 21293372
nsv1006262 CNV gain 25217958
nsv160725 CNV deletion 16902084
nsv523531 CNV gain 19592680

Variation tolerance for SCCPDH Gene

Residual Variation Intolerance Score: 53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.50; 55.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCCPDH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCCPDH

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

Disorders for SCCPDH Gene

Relevant External Links for SCCPDH

Genetic Association Database (GAD)
SCCPDH
Human Genome Epidemiology (HuGE) Navigator
SCCPDH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCCPDH

No disorders were found for SCCPDH Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SCCPDH Gene

Publications for SCCPDH Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SCCPDH Gene

Sources for SCCPDH Gene

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