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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SERF1A Gene

protein-coding   GIFtS: 48
GCID: GC05P070235

Small EDRK-Rich Factor 1A (Telomeric)


(Previous symbol: SERF1)
  See 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

Aliases
Small EDRK-Rich Factor 1A (Telomeric)1 2     FAM2A2 3
SERF11 2 3     H4F52 5
SMA Modifier 11 2 3     4F52
SMAM12 3 5     Small EDRK-Rich Factor 12
Spinal Muscular Atrophy-Related Gene H4F51 2     FAM2B3
Protein 4F52 3     h4F53

External Ids:    HGNC: 107551   Entrez Gene: 82932   Ensembl: ENSG000001720587   OMIM: 6030115   UniProtKB: O759203   

Export aliases for SERF1A gene to outside databases

Previous GC identifers: GC05U990079 GC05P069855 GC05P070398 GC05P069356 GC05P065830


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

Entrez Gene summary for SERF1A Gene:
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least
four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and
complexity of the sequence have also caused difficulty in determining the organization of this genomic region.
The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the
telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients,
and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not
known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which
colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced
transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric
and telomeric copies of the gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SERF1A Gene: 
SERF1A (small EDRK-rich factor 1A (telomeric)) is a protein-coding gene. Diseases associated with SERF1A include muscular atrophy, and scrapie. An important paralog of this gene is SERF1B.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SERF1A gene promoter:
         CREB   IRF-2   C/EBPbeta   POU2F1a   FOXJ2 (long isoform)   deltaCREB   FOXJ2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SERF1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERF1A


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

Entrez Gene cytogenetic band: 5q13   Ensembl cytogenetic band:  5q13.2   HGNC cytogenetic band: 5q13

SERF1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERF1A gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P070235:  view genomic region     (about GC identifiers)

Start:
70,196,490 bp from pter      End:
70,214,357 bp from pter
Size:
17,868 bases      Orientation:
plus strand

1 alternative location:
Chr5-,NW_003315917.2 492,256-510,145     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SERF1_HUMAN, O75920 (See protein sequence)
Recommended Name: Small EDRK-rich factor 1  
Size: 110 amino acids; 12349 Da
Secondary accessions: B7ZKM2 O75919 Q52LK5
Alternative splicing: 2 isoforms:  O75920-1   O75920-2   

Explore the universe of human proteins at neXtProt for SERF1A: NX_O75920

Explore proteomics data for SERF1A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75920

  • SERF1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SERF1A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_068802.1  NP_075257.1  

    ENSEMBL proteins: 
     ENSP00000321791   ENSP00000429293   ENSP00000346892   ENSP00000422339   ENSP00000426322  
     ENSP00000428386   ENSP00000429748   ENSP00000430582  

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    Cloud-Clone Corp. Proteins for SERF1A 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ----

    SERF1A for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for SERF1A 
    Cloud-Clone Corp. CLIAs for SERF1A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007513 Uncharacterised_SERF

    Graphical View of Domain Structure for InterPro Entry O75920

    ProtoNet protein and cluster: O75920

    1 Blocks protein domain: IPB007513 Four F5 protein

    UniProtKB/Swiss-Prot: SERF1_HUMAN, O75920
    Similarity: Belongs to the SERF family


    SERF1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ----
         
    SERF1A for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Serf1):
     growth/size  homeostasis/metabolism  vision/eye 

    SERF1A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SERF1A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERF1A 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SERF1A

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SERF1A (O759203 ENSP000003468924) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R3Q925693, ENSP000002627414I2D: score=2 STRING: ENSP00000262741
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development ----

    SERF1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SERF1A (SERF1)

    Search CenterWatch for drugs/clinical trials and news about SERF1A / SERF1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SERF1A gene (2 alternative transcripts): 
    NM_021967.2  NM_022968.1  

    Unigene Cluster for SERF1A:

    Small EDRK-rich factor 1A (telomeric)
    Hs.726820  [show with all ESTs]
    Unigene Representative Sequence: NM_021967
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000317633(uc003mqa.3) ENST00000511162 ENST00000354833(uc003kai.3)
    ENST00000513436 ENST00000504458 ENST00000507348 ENST00000512868 ENST00000512649
    ENST00000503509
    miRNA
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    hsa-miR-561 hsa-miR-488
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF073518.1 AF073519.1 BC021174.1 BC035932.1 BC093880.1 BC093882.1 

    7 DOTS entries:

    DT.95157164  DT.97780241  DT.214248  DT.453238  DT.120845152  DT.120845327  DT.99985956 

    24/485 AceView cDNA sequences (see all 485):

    AW194537 BQ775756 AA973579 BG028018 CF265001 BM686659 AI708117 CK904564 
    AI539859 BM711678 BI496007 AI921471 AI367511 AA732879 AI690649 AW467123 
    AA989486 AV727787 CF264673 BI334409 BM792538 BQ188141 AI214382 CA313754 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SERF1A expression in normal human tissues (normalized intensities)      SERF1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACATATTG
    SERF1A Expression
    About this image


    SERF1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Septum   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

    See SERF1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SERF1A

    SOURCE GeneReport for Unigene cluster: Hs.726820

    UniProtKB/Swiss-Prot: SERF1_HUMAN, O75920
    Tissue specificity: Isoform Long is predominantly expressed in heart, brain and skeletal muscle. Isoform Short and
    Isoform Long are expressed throughout the central nervous system, including spinal cord

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERF1A

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for SERF1A gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serf11 , 5 small EDRK-rich factor 11, 5 89.78(n)1
    93.55(a)1
      13 (52.98 cM)5
    203651  NM_011353.21  NP_035483.11 
     1001079975 
    chicken
    (Gallus gallus)
    Aves SERF1A1 small EDRK-rich factor 1A (telomeric) 83.87(n)
    82.26(a)
      769434  XM_001231982.2  XP_001231983.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    50(a)
    1 → many
    4(131135278-131135466)
    zebrafish
    (Danio rerio)
    Actinopterygii serf26
    si:ch211-39k3.26
    si:ch211-39k3.2
    48(a)
    43(a)
    many ↔ many
    many ↔ many
    7(31611947-31617442)
    18(25536287-25538613)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG179316
    --
    40(a)
    1 → many
    3R(12183332-12185040)


    ENSEMBL Gene Tree for SERF1A (if available)
    TreeFam Gene Tree for SERF1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SERF1A gene
    SERF1B1 2  
    2 SIMAP similar genes for SERF1A using alignment to 5 protein entries:     SERF1_HUMAN (see all proteins):
    SERF1B    SERF2

    SERF1A for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SERF1A
    PGOHUM00000248953 PGOHUM00000245705


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/12 SNPs in SERF1A are shown (see all 12)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1890868241,2
    C--70511891(+) TCTTAC/TTCTGT 1 -- int10--------
    rs1916444491,2
    C--70511911(+) TGGAGG/TGCAGT 1 -- int10--------
    rs1843211731,2
    C--70512005(+) AGGCGC/TCCGCC 1 -- int10--------
    rs1894475111,2
    C--70512451(+) ATTTAA/CGGCAA 1 -- int10--------
    rs1483786431,2
    --70520455(+) CACTTC/TGGGAG 1 -- int10--------
    rs3749653891,2
    ----70514894(+) ATTTTA/GTCTCC 1 -- int10--------
    rs3699134761,2
    ----70511863(+) TATGC-/TTTTTT 1 -- int10--------
    rs3705716131,2
    ----70520179(+) CACGAA/GTCGGG 1 -- int10--------
    rs3684547461,2
    ----70524485(+) TTTAGG/TTCCAT 1 -- ut310--------
    rs1502592161,2
    ----70523718(+) TTTTTA/GTATAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for SERF1A (70196490 - 70214357 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/91 variations for SERF1A (see all 91):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv471432CNV Duplication19718026
    dgv19n31CNV Duplication19718026
    nsv471547CNV Duplication19718026
    dgv6149n71CNV Loss21882294
    dgv6089n71CNV Loss21882294
    nsv881768CNV Loss21882294
    dgv6144n71CNV Loss21882294
    nsv821643CNV Loss15273396
    dgv6138n71CNV Loss21882294
    dgv6101n71CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603011    OMIM disorders: --

    4 diseases for SERF1A:    About MalaCards
    muscular atrophy    scrapie    spinal muscular atrophy    borna disease

    2 diseases from the University of Copenhagen DISEASES database for SERF1A:
    Scrapie     Spinal muscular atrophy

    SERF1A for disorders           About GeneDecksing

    Genetic Association Database (GAD): SERF1A
    Human Genome Epidemiology (HuGE) Navigator: SERF1A (1 document)

    Export disorders for SERF1A 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

    PubMed articles for SERF1A gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with SERF1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. (PubMed id 9731538)1, 2, 3 Scharf J.M.... Kunkel L.M. (1998)
    2. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. (PubMed id 19154529)1, 4, 9 Arkblad E....Darin N. (2009)
    3. 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. (2004)
    4. Correlation of SMN2, NAIP, p44, H4F5 and Occludin gene s copy number with spinal muscular atrophy phenotype in Tunisian patients. (PubMed id 21821450)1 Amara A....Gribaa M. (2012)
    5. SERF protein is a direct modifier of amyloid fiber ass embly. (PubMed id 22854022)1 Falsone S.F....Zangger K. (2012)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    8. Identification of MOAG-4/SERF as a regulator of age-r elated proteotoxicity. (PubMed id 20723760)1 van Ham T.J....Nollen E.A. (2010)
    9. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PubMed id 18624398)1 Wang J....He F. (2008)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8293 HGNC: 10755 AceView: SMN1 Ensembl:ENSG00000172058 euGenes: HUgn8293
    ECgene: SERF1A H-InvDB: SERF1A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SERF1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SERF1A gene:
    Search GeneIP for patents involving SERF1A

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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