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SPECC1 Gene

protein-coding   GIFtS: 50
GCID: GC17P019914

Sperm Antigen With Calponin Homology And Coiled-Coil Domains...

  See SPECC1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sperm Antigen With Calponin Homology And Coiled-Coil Domains 11 2 3     Sperm Antigen HCMOGT 11
Cytokinesis And Spindle Organization B1 2     HCMOGT-12
Nuclear Structure Protein 52 3     cytospin-B2
Sperm Antigen HCMOGT-12 3     Sperm Antigen With Calponin-Like And Coiled Coil Domains 12
CYTSB2 3     Structure Protein NSP5a3a2
NSP52 3     Structure Protein NSP5a3b2
HCMOGT12 5     Structure Protein NSP5b3a2
NSP2 5     Structure Protein NSP5b3b2
Cytospin B1     

External Ids:    HGNC: 306151   Entrez Gene: 925212   Ensembl: ENSG000001284877   OMIM: 6087935   UniProtKB: Q5M7753   

Export aliases for SPECC1 gene to outside databases

Previous GC identifers: GC17P019931 GC17P019853 GC17P019369


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SPECC1 Gene:
The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly
expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and
platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia.
Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
(provided by RefSeq, Aug 2011)

GeneCards Summary for SPECC1 Gene:
SPECC1 (sperm antigen with calponin homology and coiled-coil domains 1) is a protein-coding gene. Diseases associated with SPECC1 include juvenile myelomonocytic leukemia. An important paralog of this gene is MICALL2.

Gene Wiki entry for SPECC1 Gene


(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SPECC1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPECC1 promoter sequence
   Search Chromatin IP Primers for SPECC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPECC1


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

SPECC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPECC1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P019914:  view genomic region     (about GC identifiers)

Start:
19,912,657 bp from pter      End:
20,222,339 bp from pter
Size:
309,683 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CYTSB_HUMAN, Q5M775 (See protein sequence)
Recommended Name: Cytospin-B  
Size: 1068 amino acids; 118585 Da
Sequence caution: Sequence=AAH33618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB16440.1; Type=Frameshift; Positions=8;
Secondary accessions: B4DHH0 B7WNS8 Q5IBP1 Q5IBP2 Q5IBP3 Q5IBP4 Q5M772 Q5M773 Q5M774 Q86XT8
Q8N4U4 Q8WU84 Q9HCQ3
Alternative splicing: 5 isoforms:  Q5M775-1   Q5M775-2   Q5M775-3   Q5M775-4   Q5M775-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPECC1: NX_Q5M775

Explore proteomics data for SPECC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPECC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001028725.1  NP_001028726.1  NP_001028727.1  NP_001230367.1  NP_001230368.1  NP_690868.3  

    ENSEMBL proteins: 
     ENSP00000378898   ENSP00000463006   ENSP00000461918   ENSP00000464489   ENSP00000462266  
     ENSP00000464639   ENSP00000378900   ENSP00000261503   ENSP00000464341   ENSP00000461944  
     ENSP00000378901   ENSP00000463130   ENSP00000378893   ENSP00000378896   ENSP00000462471  
     ENSP00000462092   ENSP00000463799   ENSP00000462987   ENSP00000438294  

    SPECC1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SPECC1 

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    Abcam antibodies for SPECC1 (Q69YQ0, Q5M775)
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    ThermoFisher Antibodies for SPECC1
    LSBio Antibodies in human, mouse, rat for SPECC1

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SPECC1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001715 CH-domain

    Graphical View of Domain Structure for InterPro Entry Q5M775

    ProtoNet protein and cluster: Q5M775

    1 Blocks protein domain: IPB001715 Calponin-like actin-binding

    UniProtKB/Swiss-Prot: CYTSB_HUMAN, Q5M775
    Similarity: Belongs to the cytospin-A family
    Similarity: Contains 1 CH (calponin-homology) domain


    Find genes that share domains with SPECC1           About GenesLikeMe


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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SPECC1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SPECC1:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPECC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPECC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPECC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPECC1

    miRNA
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    miRTarBase miRNAs that target SPECC1:
    hsa-mir-155-5p (MIRT020795), hsa-mir-186-5p (MIRT045245), hsa-mir-10a-5p (MIRT047508)

    Block miRNA regulation of human, mouse, rat SPECC1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SPECC1:
    hsa-miR-579 hsa-miR-515-5p hsa-miR-31 hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): SPECC1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SPECC1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): SPECC1 (NM_001145468)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPECC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPECC1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for SPECC1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPECC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CYTSB_HUMAN, Q5M775: Nucleus

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with SPECC1           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).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPECC1
    Interactions:

        Search GeneGlobe Interaction Network for SPECC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for SPECC1 (Q5M7753 ENSP000002615034) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    CBX7ENSP000002161334STRING: ENSP00000216133
    UBCENSP000003448184STRING: ENSP00000344818
    CAPZA1ENSP000002631684STRING: ENSP00000263168
    CAPZA2ENSP000003549474STRING: ENSP00000354947
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IDA--

    Find genes that share ontologies with SPECC1           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPECC1 (CYTSB)



    (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 )
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    REFSEQ mRNAs for SPECC1 gene (6 alternative transcripts): 
    NM_001033553.2  NM_001033554.2  NM_001033555.2  NM_001243438.1  NM_001243439.1  NM_152904.4  

    Unigene Cluster for SPECC1:

    Sperm antigen with calponin homology and coiled-coil domains 1
    Hs.431045  [show with all ESTs]
    Unigene Representative Sequence: NM_152904
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000472876 ENST00000395527 ENST00000583482 ENST00000583528 ENST00000583463
    ENST00000578321 ENST00000582604 ENST00000413167 ENST00000395529(uc010cqx.3 uc002gwr.3 uc002gwu.3 uc002gwt.3)
    ENST00000261503(uc002gwq.3 uc002gws.3) ENST00000581973 ENST00000580934
    ENST00000582063 ENST00000579688 ENST00000395530(uc002gwv.3 uc010vzf.2)
    ENST00000467722 ENST00000395522 ENST00000395525
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPECC1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SPECC1:
    hsa-miR-579 hsa-miR-515-5p hsa-miR-31 hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): SPECC1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPECC1
    Predesigned siRNA for gene silencing in human, mouse, rat SPECC1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPECC1 (NM_001145468)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPECC1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SPECC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPECC1
      QuantiTect SYBR Green Assays in human, mouse, rat SPECC1
      QuantiFast Probe-based Assays in human, mouse, rat SPECC1

    Additional mRNA sequence: 

    AB041533.1 AK295093.1 AK295811.1 AK298601.1 AK301318.1 AK304186.1 AK314341.1 AY816326.1 
    AY816327.1 AY816328.1 AY816329.1 BC021123.1 BC033618.1 BC037532.1 BC050058.1 

    20 DOTS entries:

    DT.100788816  DT.427887  DT.307603  DT.99979848  DT.120916487  DT.100788815  DT.101972521  DT.100687808 
    DT.120916480  DT.120916556  DT.91928102  DT.100788819  DT.105917  DT.120916483  DT.120916553  DT.40198548 
    DT.40296455  DT.92430871  DT.95262607  DT.97786511 

    Selected AceView cDNA sequences (see all 167):

    F26933 BE892615 AA489648 BU620252 AI817406 AI369680 CR613965 CF132177 
    CR623676 AI863341 AW160798 BG705817 BF205860 BG700098 AA489755 BE743521 
    BE501245 AI400557 BX428064 BG249150 AW512931 BQ674486 CA450419 CA427363 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SPECC1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                                                        -                                             
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                    -     -                                                                           
    SP5:              -                                                                                       


    ECgene alternative splicing isoforms for SPECC1

    (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)
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    SPECC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPECC1 Expression
    About this image


    SPECC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Heart (Cardiovascular System)
             Dorsal Aorta
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SPECC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPECC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.431045

    UniProtKB/Swiss-Prot: CYTSB_HUMAN, Q5M775
    Tissue specificity: Highly expressed in testis. Barely detectable in other tissues. Also highly expressed in some
    cancer cell lines

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPECC1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SPECC1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Specc11 , 5 sperm antigen with calponin homology and coiled-coil more1, 5 83.82(n)1
    85.71(a)1
      11 (37.96 cM)5
    4325721  NM_001281818.11  NP_001268747.11 
     619567795 
    chicken
    (Gallus gallus)
    Aves SPECC11 sperm antigen with calponin homology and coiled-coil more 72.05(n)
    72.74(a)
      417595  XM_415840.4  XP_415840.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3987952 hypothetical protein LOC398795 78.09(n)    BC060019.1 
    zebrafish
    (Danio rerio)
    Actinopterygii specc11 sperm antigen with calponin homology and coiled-coil more 58.68(n)
    55.06(a)
      562343  XM_005168631.1  XP_005168688.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG133666
    --
    26(a)
    1 → many
    X(504579-514228)


    ENSEMBL Gene Tree for SPECC1 (if available)
    TreeFam Gene Tree for SPECC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPECC1 gene
    MICALL22  MICAL22  EHBP12  MICAL32  SMTNL22  MICALL12  MICALCL2  MICAL12  
    SPECC1L-ADORA2A2  SMTN2  EHBP1L12  SPECC1L2  SMTNL12  
    5 SIMAP similar genes for SPECC1 using alignment to 14 protein entries:     CYTSB_HUMAN (see all proteins):
    DMD    ACTN1    SPECC1L    CYTSA    SPECC1L-ADORA2A

    Find genes that share paralogs with SPECC1           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for SPECC1
    PGOHUM00000262969 PGOHUM00000262974 PGOHUM00000262975 PGOHUM00000237300


    (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)
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    Selected SNPs for SPECC1 (see all 5967)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1114696801,2
    C,F--19298422(+) CCAGCC/AGGCCC 1 -- int13Minor allele frequency- A:0.08NA CSA EA 123
    rs99026631,2
    C,F--19298906(+) atggaG/Ccagtc 1 -- int12Minor allele frequency- C:0.07NA EA 122
    rs1121806381,2
    C--19301699(+) TTTCATCACTGGC
    TTCTTTG
    /-
    TCACT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs558695461,2
    C--19303547(+) TATATT/ATTTTT 1 -- int13Minor allele frequency- A:0.00NA 6
    rs2006502821,2
    --19303547(+) TATAT-/ATTTTT 1 -- int10--------
    rs340127551,2
    C--19315939(+) TATTC-/TTTTTT 1 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs758831931,2
    C--19347477(+) GACTC-/CT    
       T
    /TCT
    CTCTG
    2 -- cds10--------
    rs713574131,2
    C--19347480(+) CTCCTTCT/-CTGGG 1 -- cds11Minor allele frequency- -:0.50NA 2
    rs114030901,2
    C--19348834(+) AGTAGA/-TTTTT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1422645311,2
    C--19353468(+) GTGTT-/TGTG  
            
    TGTGT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for SPECC1 (19912657 - 20162657 bp, first 250kb of SPECC1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPECC1 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715741CNV Deletion23290073
    esv2715739CNV Deletion23290073
    esv2673344CNV Deletion23128226
    esv2102373CNV Deletion18987734
    esv271574CNV Insertion20981092
    nsv520772CNV Loss19592680
    nsv2003CNV Loss18451855
    nsv907872CNV Loss21882294
    nsv907871CNV Loss21882294
    nsv907869CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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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

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    OMIM gene information: 608793    OMIM disorders: --

    UniProtKB/Swiss-Prot: CYTSB_HUMAN, Q5M775
  • Note=A chromosomal aberration involving CYTSB may be a cause of juvenile myelomonocytic leukemia.
    Translocation t(5;17)(q33;p11.2) with PDGFRB

  • 1 disease for SPECC1:    
    About MalaCards
    juvenile myelomonocytic leukemia


    Find genes that share disorders with SPECC1           About GenesLikeMe


    Export disorders for SPECC1 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)
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    PubMed articles for SPECC1 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with SPECC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A gene highly expressed in tumor cells encodes novel structure proteins. (PubMed id 15602574)1, 2, 3 Sang N.... Giordano A. (Oncogene 2004)
    2. HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2). (PubMed id 15087372)1, 2, 3 Morerio C.... Panarello C. (Cancer Res. 2004)
    3. Possible functional role of NSPs in cancer. (PubMed id 18763323)1, 3, 9 D'Agostino L. and Giordano A. (Cell Cycle 2008)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The P-body component USP52/PAN2 is a novel regulator of HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (Biochem. J. 2013)
    8. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PubMed id 24163370)1 Lu L....Zhang L. (J. Biol. Chem. 2013)
    9. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 92521 HGNC: 30615 AceView: HCMOGT-1 Ensembl:ENSG00000128487 euGenes: HUgn92521
    ECgene: SPECC1 H-InvDB: SPECC1

    (According to HUGE)
    About This Section

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      --

    (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

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    NameDescription
    PharmGKB entry for SPECC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPECC1 Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for SPECC1 gene:
    Search GeneIP for patents involving SPECC1

    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, LSBio, eBioscience, 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
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