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

SERF1B Gene

protein-coding   GIFtS: 44
GCID: GC05P069322

small EDRK-rich factor 1B (centromeric)

 Explore 3 diseases affiliated with
SERF1B via our new
 Human Malady Compendium 
Biological research products
for SERF1B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Small EDRK-Rich Factor 1B (Centromeric)1 2     SMA Modifier 12 3
FAM2B1 2 3     Small EDRK-Rich Factor 12
H4F5C1 2     FAM2A3
Protein 4F52 3     SERF13
H4F51     SMAM13

External Ids:    HGNC: 107561   Entrez Gene: 7284922   Ensembl: ENSG000002055727   UniProtKB: O759203   

Export aliases for SERF1B gene to outside databases

Previous GC identifers: GC05M069157 GC05M035205 GC05P069810 GC05P069856 GC05P069857 GC05P070232 GC05U900528 GC05P069358 GC05P065845


(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 SERF1B:
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. This gene is the
centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but
it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene
encodes a protein of unknown function which 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. (provided by RefSeq, Jul 2008)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SERF1B gene promoter:
         Nkx2-2   CUTL1   IRF-2   POU2F1   FOXJ2 (long isoform)   POU2F1a   Chx10   STAT3   FOXJ2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERF1B promoter sequence
   Search SABiosciences Chromatin IP Primers for SERF1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERF1B


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

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

SERF1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERF1B gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P069322:  view genomic region     (about GC identifiers)

Start:
69,321,074 bp from pter      End:
69,338,940 bp from pter
Size:
17,867 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 SERF1B: NX_O75920

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75920

  • SERF1B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171558.1  NP_075267.1  

    ENSEMBL proteins: 
     ENSP00000370127   ENSP00000370126   ENSP00000423882   ENSP00000421563   ENSP00000427181  

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    Uscn Proteins for SERF1B

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

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


    SERF1B for ontologies           About GeneDecksing



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

    SERF1B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007513 Uncharacterised_SERF

    Graphical View of Domain Structure for InterPro Entry O75920

    ProtoNet protein and cluster: O75920

    1 Blocks protein family: IPB007513 Four F5 protein

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    SERF1B for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for SERF1B:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SERF1B

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

    1 Interacting protein for SERF1B (O759203 ENSP000003701264) 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 TAS9731538


    SERF1B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 SERF1B
    Search CenterWatch for drugs/clinical trials and news about SERF1B / SERF1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SERF1B gene (2 alternative transcripts): 
    NM_001178087.1  NM_022978.2  

    Unigene Cluster for SERF1B:

    Small EDRK-rich factor 1B (centromeric)
    Hs.559428  [show with all ESTs]
    Unigene Representative Sequence: NM_022978
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380751(uc003jxz.3) ENST00000380750(uc003jyb.3) ENST00000503931
    ENST00000506542 ENST00000515588 ENST00000507177 ENST00000514285 ENST00000513144


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    hsa-miR-561 hsa-miR-488
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    BC101970.1 BC103687.1 BC104738.1 BC143255.1 BC143260.1 BC171749.1 

    15 DOTS entries:

    DT.214248  DT.95157164  DT.120845327  DT.92420310  DT.99985956  DT.453238  DT.120845152  DT.75118279 
    DT.101982577  DT.97762404  DT.97780241  DT.99975805  DT.100822322  DT.40264383  DT.97770443 

    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

    SERF1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SERF1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SERF1B

    SOURCE GeneReport for Unigene cluster: Hs.559428

    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 SERF1B

    (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 SERF1B gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 --
    --
    55(a)
    1 → many
    4(131135278-131135466)
    zebrafish
    (Danio rerio)
    Actinopterygii serf26
    si:ch211-39k3.26
    si:ch211-39k3.2
    50(a)
    46(a)
    many ↔ many
    many ↔ many
    7(31611947-31617442)
    18(25536287-25538613)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG179316
    --
    43(a)
    1 → many
    3R(12183332-12185040)


    ENSEMBL Gene Tree for SERF1B (if available)
    TreeFam Gene Tree for SERF1B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SERF1B gene
    SERF1A1 2  SERF22  
    18/30 SIMAP similar genes for SERF1B using alignment to 4 protein entries:     SERF1_HUMAN (see all proteins) (see all similar genes):
    SERF1A    SERF2    IFT122    IPO7    MKRN1    NSD1
    CNOT2    KLHDC1    NDUFS7    SUMF2    FANCA    HGSNAT
    C11orf80    LRRC36    SCLT1    WDR69    C15orf40    CLEC2D

    SERF1B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/15 NCBI SNPs in SERF1B are shown (see all 15    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs715769331,2
    C--69324995(+) TCTTAC/TTCTGT 2 -- int12Minor allele frequency- T:0.00NA 4
    rs1824903771,2
    --69331213(+) TTATTA/TTTTTT 1 -- int10--------
    rs1871142401,2
    --69331216(+) TTTTTA/TTTTTT 1 -- int10--------
    rs1912249791,2
    --69336803(+) TTTATA/GTATCT 1 -- int10--------
    rs1835076391,2
    --69337171(+) CAGTCC/TCATTC 1 -- int10--------
    rs1879553451,2
    --69337184(+) CTGAAA/CTAACC 1 -- int10--------
    rs783926621,2
    ----69332456(+) CACACT/ACTCTC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs2018902061,2
    ----69331212(+) TTATT-/ATTTTTTT 1 -- int10--------
    rs2001952871,2
    ----69321892(+) CTCAAA/GTGATG 2 -- int10--------
    rs2008950781,2
    ----69331509(+) AGAATA/GATTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for SERF1B (69321074 - 69338940 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 41 variations for SERF1B
         15/39 CNVs (see all 39): 4452 69103 69105 69085 4449 31241 69097 69087 32723 64227 93094 69093 37550 7500 69120
         2 Inversions: 37264 37263

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    (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

    SERF1B for disorders           About GeneDecksing

    3 diseases for SERF1B:    About MalaCards
    spinal muscular atrophy    muscular atrophy    scrapie

    2 diseases from the University of Copenhagen DISEASES database for SERF1B:
    Scrapie     Spinal muscular atrophy

    Export disorders for SERF1B 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 SERF1B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SERF1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. (PubMed id 9731538)1, 2 Scharf J.M.... Kunkel L.M. (1998)
    3. Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis. (PubMed id 12766061)1 Tomarev S.I....Malyukova I. (2003)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    5. Comparative sequence analysis of the mouse and human Lgn1/SMA interval. (PubMed id 10486205)1 Endrizzi M....Dietrich W.F. (1999)
    6. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 728492 HGNC: 10756 Ensembl:ENSG00000205572 euGenes: HUgn728492 ECgene: SERF1B
    H-InvDB: SERF1B

    (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 SERF1B 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 SERF1B gene:
    Search GeneIP for patents involving SERF1B

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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 


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