Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SCCPDH Gene

protein-coding   GIFtS: 55
GCID: GC01P246887

Saccharopine Dehydrogenase (Putative)

  See SCCPDH-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Saccharopine Dehydrogenase (Putative)1 2
NET112
Probable Saccharopine Dehydrogenase2
Saccharopine Dehydrogenase-Like Oxidoreductase2
EC 1.-.-.-3

External Ids:    HGNC: 242751   Entrez Gene: 510972   Ensembl: ENSG000001436537   UniProtKB: Q8NBX03   

Export aliases for SCCPDH gene to outside databases

Previous GC identifers: GC01P243214 GC01P244953 GC01P217253


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for SCCPDH Gene:
SCCPDH (saccharopine dehydrogenase (putative)) is a protein-coding gene. Diseases associated with SCCPDH include hyperlysinemia, and cystinuria. GO annotations related to this gene include oxidoreductase activity.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_167186.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCCPDH gene promoter:
         TBP   NRSF form 1   NRSF form 2   Nkx5-1   GATA-1   E47   HFH-1   Hand1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCCPDH promoter sequence
   Search Chromatin IP Primers for SCCPDH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCCPDH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q44   Ensembl cytogenetic band:  1q44   HGNC cytogenetic band: 1q44

SCCPDH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCCPDH gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P246887:  view genomic region     (about GC identifiers)

Start:
246,887,349 bp from pter      End:
246,931,439 bp from pter
Size:
44,091 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: SCPDL_HUMAN, Q8NBX0 (See protein sequence)
Recommended Name: Saccharopine dehydrogenase-like oxidoreductase  
Size: 429 amino acids; 47151 Da
Secondary accessions: Q8TAR0 Q9Y363

Explore the universe of human proteins at neXtProt for SCCPDH: NX_Q8NBX0

Explore proteomics data for SCCPDH at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys136, Lys220, Lys242, Lys394
  • Modification sites at PhosphoSitePlus

  • See SCCPDH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057086.2  
    ENSEMBL proteins: 
     ENSP00000355467  

    SCCPDH Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SCCPDH
    OriGene Protein Over-expression Lysate for SCCPDH
    OriGene MassSpec for SCCPDH
    OriGene Custom Protein Services for SCCPDH
    GenScript Custom Purified and Recombinant Proteins Services for SCCPDH
    Novus Biologicals SCCPDH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SCCPDH

     
    Search eBioscience for Proteins for SCCPDH 

     
    antibodies-online proteins for SCCPDH (2 products) 

     
    antibodies-online peptides for SCCPDH

    SCCPDH Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SCCPDH
    OriGene Custom Antibody Services for SCCPDH
    Novus Biologicals SCCPDH Antibodies
    Abcam antibodies for SCCPDH
    Cloud-Clone Corp. Antibodies for SCCPDH
    ThermoFisher Antibodies for SCCPDH
    antibodies-online antibodies for SCCPDH (12 products) 

    SCCPDH Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SCCPDH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SCCPDH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SCCPDH
    Cloud-Clone Corp. CLIAs for SCCPDH
    Search eBioscience for ELISAs for SCCPDH 
    antibodies-online kits for SCCPDH (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR005097 Saccharopine_DH/HSpermid_syn
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q8NBX0

    ProtoNet protein and cluster: Q8NBX0

    UniProtKB/Swiss-Prot: SCPDL_HUMAN, Q8NBX0
    Similarity: Belongs to the saccharopine dehydrogenase family


    Find genes that share domains with SCCPDH           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Enzyme Number (IUBMB): EC 1.-.-.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity IEA--
         
    Find genes that share ontologies with SCCPDH           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SCCPDH:
     Synthetic lethal with c-Myc af 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SCCPDH

    miRNA
    Products:
        
    miRTarBase miRNAs that target SCCPDH:
    hsa-mir-15b-5p (MIRT046432)

    Block miRNA regulation of human, mouse, rat SCCPDH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SCCPDH (see all 10):
    hsa-miR-203 hsa-miR-3671 hsa-miR-548p hsa-miR-607 hsa-miR-2909 hsa-miR-3942-5p hsa-miR-3692 hsa-miR-3158-3p
    SwitchGear 3'UTR luciferase reporter plasmidSCCPDH 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SCCPDH
    Predesigned siRNA for gene silencing in human, mouse, rat SCCPDH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SCCPDH

    Clone
    Products:
         
    OriGene clones in human, mouse for SCCPDH (see all 6)
    OriGene ORF clones in mouse, rat for SCCPDH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SCCPDH (NM_016002)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCCPDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCCPDH

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SCCPDH
    Browse ESI BIO Cell Lines and PureStem Progenitors for SCCPDH 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCCPDH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion2
    peroxisome2
    endoplasmic reticulum1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005811lipid particle IDA14741744
    GO:0030496midbody IDA15166316

    Find genes that share ontologies with SCCPDH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for SCCPDH About    
    See pathways by source

    SuperPathContained pathways About
    1lysine degradation II
    lysine degradation II


    1 BioSystems Pathway for SCCPDH
        lysine degradation II


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SCCPDH
    Interactions:

        Search GeneGlobe Interaction Network for SCCPDH

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for SCCPDH (Q8NBX03 ENSP000003554674) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFX1Q129863I2D: score=5 
    RPL10P276353I2D: score=4 
    UBCENSP000003448184STRING: ENSP00000344818
    PDXPENSP000002159044STRING: ENSP00000215904
    PGPENSP000003309184STRING: ENSP00000330918
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with SCCPDH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SCCPDH (SCPDL)

    3 HMDB Compounds for SCCPDH    About this table
    CompoundSynonyms CAS #PubMed Ids
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Saccharopine(S)-N-(5-amino-5-carboxypentyl)-L-Glutamic acid (see all 11)997-68-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SCCPDH gene: 
    NM_016002.2  

    Unigene Cluster for SCCPDH:

    Saccharopine dehydrogenase (putative)
    Hs.498397  [show with all ESTs]
    Unigene Representative Sequence: NM_016002
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000366510(uc001ibr.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SCCPDH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SCCPDH (see all 10):
    hsa-miR-203 hsa-miR-3671 hsa-miR-548p hsa-miR-607 hsa-miR-2909 hsa-miR-3942-5p hsa-miR-3692 hsa-miR-3158-3p
    SwitchGear 3'UTR luciferase reporter plasmidSCCPDH 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SCCPDH
    Predesigned siRNA for gene silencing in human, mouse, rat SCCPDH
    Clone
    Products:
         
    OriGene clones in human, mouse for SCCPDH (see all 6)
    OriGene ORF clones in mouse, rat for SCCPDH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SCCPDH (NM_016002)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCCPDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCCPDH
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SCCPDH
    OriGene qSTAR qPCR primer pairs in human, mouse for SCCPDH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SCCPDH
      QuantiTect SYBR Green Assays in human, mouse, rat SCCPDH
      QuantiFast Probe-based Assays in human, mouse, rat SCCPDH

    Additional mRNA sequence: 

    AF151807.1 AK075178.1 BC026185.2 

    19 DOTS entries:

    DT.118787  DT.92447890  DT.121432702  DT.121432736  DT.121432724  DT.100821358  DT.86857815  DT.87002854 
    DT.95102379  DT.95158262  DT.100651243  DT.100821351  DT.121432727  DT.121432728  DT.40202779  DT.75125332 
    DT.95158269  DT.95158272  DT.95367580 

    Selected AceView cDNA sequences (see all 404):

    BM797143 BM917587 BU624949 BM554011 CN484105 AI126957 BU623484 BU194899 
    CB306041 CD366740 AI263801 AA426125 BE856673 CB154443 AJ243243 AA007460 
    BF222334 BM724411 BM698673 AW296547 AI307122 AA515478 BU627330 CD558066 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SCCPDH    About this scheme

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


    ECgene alternative splicing isoforms for SCCPDH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    SCCPDH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCTTCTAA
    SCCPDH Expression
    About this image


    SCCPDH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Testis (Reproductive System)
     
     Liver (Hepatobiliary System)
    SCCPDH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCCPDH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.498397
        Custom PCR Arrays for SCCPDH
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SCCPDH
    OriGene qSTAR qPCR primer pairs in human, mouse for SCCPDH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SCCPDH
    QuantiTect SYBR Green Assays in human, mouse, rat SCCPDH
    QuantiFast Probe-based Assays in human, mouse, rat SCCPDH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCCPDH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SCCPDH gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sccpdh1 , 5 saccharopine dehydrogenase (putative)1, 5 87.8(n)1
    87.18(a)1
      1 (83.62 cM)5
    1092321  NM_178653.31  NP_848768.11 
     1796682105 
    chicken
    (Gallus gallus)
    Aves SCCPDH1 saccharopine dehydrogenase (putative) 70.35(n)
    69.41(a)
      421485  NM_001012875.1  NP_001012893.1 
    lizard
    (Anolis carolinensis)
    Reptilia SCCPDH6
    saccharopine dehydrogenase (putative)
    67(a)
    1 ↔ 1
    1(235768278-235782580)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.77222 Xenopus laevis transcribed sequence with weak similarity more 76.05(n)    48049116 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb42 sbcb4 73(n)   321027  CK028053.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG26041 CG2604 48.66(n)
    40.88(a)
      40623  NM_169029.3  NP_730896.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F22F7.11 F22F7.1 47.57(n)
    41.02(a)
      178692  NM_071176.4  NP_503577.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G394101 AT5G39410 48.55(n)
    37.44(a)
      833937  NM_123303.3  NP_568564.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SCCPDH (see all 1079)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1900595531,2
    --246885378(+) TAGTCA/CATTTT 1 -- us2k10--------
    rs355889741,2
    C,F--246885409(+) CCTGAG/AGCTGG 1 -- us2k16Minor allele frequency- A:0.07NA WA 246
    rs66965991,2
    C,F--246885471(+) tacatC/Taagtg 1 -- us2k1 tfbs32Minor allele frequency- T:0.25WA 120
    rs1462611221,2
    --246885520(+) TTCCAA/GTCGTG 1 -- us2k10--------
    rs1165956051,2
    F--246885523(+) CAATCG/ATGGCA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1929227641,2
    --246885575(+) ACCAAG/TAGAGA 1 -- us2k10--------
    rs74162391,2
    C,F,A,H--246885581(+) agagaG/Aaagga 1 -- us2k1 trp316Minor allele frequency- A:0.22NS EA NA WA 1870
    rs1164221621,2
    F--246885629(+) ATGCAG/AAGAGA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs341129671,2
    C,F--246885663(+) GCACCA/GAGCCA 1 -- us2k14Minor allele frequency- G:0.07NA WA 242
    rs74108301,2
    C,A,H--246885725(+) tccaaT/Cgctgg 1 -- us2k16Minor allele frequency- C:0.18NA CSA WA EA 363

    HapMap Linkage Disequilibrium report for SCCPDH (246887349 - 246931439 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SCCPDH (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2743351CNV Deletion23290073
    esv1933268CNV Deletion18987734
    esv2667587CNV Deletion23128226
    esv2727518CNV Deletion23290073
    esv1589537CNV Deletion17803354
    esv1000885CNV Deletion20482838
    esv2660077CNV Deletion23128226
    esv2443936CNV Deletion19546169
    nsv160725CNV Loss16902084
    nsv873422CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCCPDH
    DNA2.0 Custom Variant and Variant Library Synthesis for SCCPDH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    2 diseases for SCCPDH:    
    About MalaCards
    hyperlysinemia    cystinuria

    2 diseases from the University of Copenhagen DISEASES database for SCCPDH:
    Hyperlysinemia     Cystinuria

    Find genes that share disorders with SCCPDH           About GenesLikeMe

    Genetic Association Database (GAD): SCCPDH
    Human Genome Epidemiology (HuGE) Navigator: SCCPDH (1 document)

    Export disorders for SCCPDH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for SCCPDH gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with SCCPDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.-H.... Lin W.-C. (Genome Res. 2000)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 51097 HGNC: 24275 AceView: CGI-49 Ensembl:ENSG00000143653 euGenes: HUgn51097
    ECgene: SCCPDH H-InvDB: SCCPDH

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SCCPDH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for SCCPDH gene:
    Search GeneIP for patents involving SCCPDH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for SCCPDH   OriGene RNAi products in human, mouse, rat for SCCPDH  
     OriGene qPCR primer pairs and template standards for SCCPDH   OriGene Protein Over-expression Lysate for SCCPDH  
     OriGene MassSpec for SCCPDH   OriGene clones in human, mouse for SCCPDH  
     OriGene qSTAR qPCR primer pairs in human, mouse for SCCPDH   OriGene Purified Protein for SCCPDH  
     OriGene ORF clones in mouse, rat for SCCPDH   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SCCPDH   OriGene Custom Protein Services for SCCPDH  

     
     
     Block miRNA regulation of human, mouse, rat SCCPDH using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SCCPDH
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCCPDH Predesigned siRNA for gene silencing in human, mouse, rat SCCPDH
     QuantiFast Probe-based Assays in human, mouse, rat SCCPDH QuantiTect SYBR Green Assays in human, mouse, rat SCCPDH
     Custom PCR Arrays for SCCPDH Search Chromatin IP Primers for SCCPDH
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SCCPDH  Search GeneGlobe Interaction Network for SCCPDH
     Regulatory tfbs in SCCPDH promoter
     GenScript Custom Purified and Recombinant Proteins Services for SCCPDH GenScript cDNA clones with any tag delivered in your preferred vector for SCCPDH
     GenScript Custom Assay Services for SCCPDH GenScript Custom overexpressing Cell Line Services for SCCPDH
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SCCPDH (SCPDL)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SCCPDH antibodies
     SCCPDH lysates
     Antibodies for SCCPDH
     See all of Abcam's Antibodies, Kits and Proteins for SCCPDH
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for SCCPDH
     Antibodies for SCCPDH
     ELISAs for SCCPDH
     CLIAs for SCCPDH



     Browse ESI BIO Cell Lines and PureStem Progenitors for SCCPDH
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCCPDH
     SwitchGear 3'UTR luciferase reporter plasmids for SCCPDH
     SwitchGear Promoter luciferase reporter plasmids for SCCPDH
     ThermoFisher Antibodies for SCCPDH
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCCPDH
     Browse compounds at ApexBio
     Search Addgene for plasmids for SCCPDH
      Search eBioscience for proteins for SCCPDH
      Search eBioscience for elisas for SCCPDH
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for SCCPDH
     antibodies-online antibodies for SCCPDH (12 products)
     antibodies-online kits for SCCPDH (8 products)
     antibodies-online peptides for SCCPDH
     antibodies-online proteins for SCCPDH (2 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SCCPDH gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4