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

SPECC1L Gene

protein-coding   GIFtS: 49
GCID: GC22P024708

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

(Previous name: SPECC1-like)
  See 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)
About This Section

Aliases
Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1-Like1 2 3     SPECC1-like1
Cytokinesis And Spindle Organization A1 2     Cytospin A1
Renal Carcinoma Antigen NY-REN-222 3     OBLFC12
CYTSA2 3     cytospin-A2
SPECC1-Like Protein2 3     KIAA03763

External Ids:    HGNC: 290221   Entrez Gene: 233842   Ensembl: ENSG000001000147   OMIM: 6141405   UniProtKB: Q69YQ03   

Export aliases for SPECC1L gene to outside databases

Previous GC identifers: GC22P022996 GC22P007616 GC22P024668 GC22P024682 GC22P024692


(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 SPECC1L Gene:
This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in
actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique
facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for
this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil
domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is
thought to be non-coding. (provided by RefSeq, Jun 2013)

GeneCards Summary for SPECC1L Gene: 
SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) is a protein-coding gene. Diseases associated with SPECC1L include renal cell carcinoma. An important paralog of this gene is MICALL2.

UniProtKB/Swiss-Prot: CYTSA_HUMAN, Q69YQ0
Function: Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and
microtubule stabilization and hence required for proper cell adhesion and migration




(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_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SPECC1L
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPECC1L promoter sequence
   Search SABiosciences Chromatin IP Primers for SPECC1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPECC1L


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

Entrez Gene cytogenetic band: 22q11.23   Ensembl cytogenetic band:  22q11.23   HGNC cytogenetic band: 22q11.23

SPECC1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPECC1L gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P024708:  view genomic region     (about GC identifiers)

Start:
24,666,786 bp from pter      End:
24,813,708 bp from pter
Size:
146,923 bases      Orientation:
plus strand

(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: CYTSA_HUMAN, Q69YQ0 (See protein sequence)
Recommended Name: Cytospin-A  
Size: 1117 amino acids; 124602 Da
Subunit: May interact with both microtubules and actin cytoskeleton
Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Cell junction, gap junction.
Note=Colocalizes with acetylated alpha-tubulin, gamma-tubulin and F-actin. Also observed in a ring around
gamma-tubulin containing centrioles possibly in the microtubule organizing center
Secondary accessions: B7Z758 F5H1H6 O15081
Alternative splicing: 2 isoforms:  Q69YQ0-1   Q69YQ0-2   

Explore the universe of human proteins at neXtProt for SPECC1L: NX_Q69YQ0

Explore proteomics data for SPECC1L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q69YQ0

  • SPECC1L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPECC1L Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001138940.3  NP_001241661.2  NP_001241662.1  NP_056145.4  

    ENSEMBL proteins: 
     ENSP00000405671   ENSP00000325785   ENSP00000414354   ENSP00000393363   ENSP00000439633  

    Human Recombinant Protein Products for SPECC1L: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0005819spindle IEA--
    GO:0005921gap junction IEA--
    GO:0015629actin cytoskeleton ----

    SPECC1L for ontologies           About GeneDecksing



    SPECC1L Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


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

    Graphical View of Domain Structure for InterPro Entry Q69YQ0

    ProtoNet protein and cluster: Q69YQ0

    2 Blocks protein domains:
    IPB001715 Calponin-like actin-binding
    IPB003016 2-oxo acid dehydrogenase


    UniProtKB/Swiss-Prot: CYTSA_HUMAN, Q69YQ0
    Similarity: Belongs to the cytospin-A family
    Similarity: Contains 1 CH (calponin-homology) domain


    SPECC1L 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CYTSA_HUMAN, Q69YQ0
    Function: Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and
    microtubule stabilization and hence required for proper cell adhesion and migration

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0046983protein dimerization activity ----
         
    SPECC1L for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPECC1L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPECC1L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPECC1L 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPECC1L 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPECC1L
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate SPECC1L (see all 24):
    hsa-miR-3910 hsa-miR-100* hsa-miR-193a-3p hsa-miR-328 hsa-miR-181c hsa-miR-1263 hsa-miR-507 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidSPECC1L 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of SPECC1L 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPECC1L


    (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 SPECC1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/13 Interacting proteins for SPECC1L (Q69YQ02, 3 ENSP000003257854) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLIS2Q9BZE02, 3, ENSP000002623664MINT-4651617 I2D: score=2 STRING: ENSP00000262366
    RIPK3Q9Y5722, 3MINT-49132 I2D: score=2 
    DAXXQ9UER73I2D: score=1 
    ENSG00000206206Q9UER73I2D: score=1 
    ENSG00000206279Q9UER73I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007026negative regulation of microtubule depolymerization IEA--
    GO:0007049cell cycle IEA--
    GO:0016477cell migration IEA--
    GO:0030036actin cytoskeleton organization IEA--
    GO:0030835negative regulation of actin filament depolymerization IEA--

    SPECC1L 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

    SPECC1L for compounds           About GeneDecksing

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

    Browse Tocris compounds for SPECC1L (CYTSA)

    1 PharmGKB related drug/compound annotation for SPECC1L gene    About this table
    Drug/compound PharmGKB Annotation
    methotrexateCA  

    Search CenterWatch for drugs/clinical trials and news about SPECC1L / CYTSA

    (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 SPECC1L gene (4 alternative transcripts): 
    NM_001145468.3  NM_001254732.2  NM_001254733.1  NM_015330.4  

    Unigene Cluster for SPECC1L:

    Sperm antigen with calponin homology and coiled-coil domains 1-like
    Hs.474384  [show with all ESTs]
    Unigene Representative Sequence: NM_015330
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000421374 ENST00000314328 ENST00000416735 ENST00000440893 ENST00000472799
    ENST00000437398(uc002zzw.3 uc002zzv.4 uc011ajq.2 uc021wnf.1)
    ENST00000541492
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPECC1L
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate SPECC1L (see all 24):
    hsa-miR-3910 hsa-miR-100* hsa-miR-193a-3p hsa-miR-328 hsa-miR-181c hsa-miR-1263 hsa-miR-507 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidSPECC1L 3' UTR sequence
    Inhib. RNA
    Products:
         
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    GenScript: all cDNA clones in your preferred vector (see all 2): SPECC1L (NM_001145468)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPECC1L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPECC1L
    Sirion Biotech Customized lentivirus for stable overexpression of SPECC1L 
                         Customized lentivirus expression plasmids for stable overexpression of SPECC1L 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPECC1L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPECC1L

    Additional mRNA sequence: 

    AB002374.1 AK025531.1 AK097129.1 AK301482.1 AL832425.1 AY884293.1 BC005093.1 BC013085.1 
    BC021132.1 BC041571.1 BC068611.1 BC136471.1 

    8 DOTS entries:

    DT.446497  DT.95187006  DT.97786669  DT.100751422  DT.99965172  DT.120642728  DT.120642633  DT.120642798 

    24/228 AceView cDNA sequences (see all 228):

    CK000873 AA773104 AA369002 CA414588 BM980531 AI934829 Z39808 BG761853 
    AI510839 BC013085 BU732954 CD675784 AA778444 AA324128 T33471 AI382833 
    BX643024 BC005093 AA861379 F04528 AK025531 F04670 BQ929263 CF125493 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SPECC1L (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a ·
    SP1:                                                                                                  -                                         -               
    SP2:              -           -                                                                                                                                 
    SP3:                          -                                                                                                                                 
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for SPECC1L

    (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

    SPECC1L expression in normal human tissues (normalized intensities)      SPECC1L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTCCAGCAT
    SPECC1L Expression
    About this image


    SPECC1L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             oocyte   
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Lung (Respiratory System)

    See SPECC1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPECC1L

    SOURCE GeneReport for Unigene cluster: Hs.474384
        SABiosciences Custom PCR Arrays for SPECC1L
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPECC1L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPECC1L

    (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 SPECC1L gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Specc1l1 , 5 sperm antigen with calponin homology and coiled-coil more1, 5 88.39(n)1
    95.26(a)1
      10 (38.51 cM)5
    743921  NM_001145826.11  NP_001139298.11 
     752120735 
    chicken
    (Gallus gallus)
    Aves SPECC1L1 sperm antigen with calponin homology and coiled-coil more 80.39(n)
    91.3(a)
      416950  NM_001044637.1  NP_001038102.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPECC1L6
    Uncharacterized protein
    62(a)
    1 → many
    GL343947.1(40622-58062)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB942167.12   -- 80.38(n)    CB942167.1 
    zebrafish
    (Danio rerio)
    Actinopterygii specc1la1 sperm antigen with calponin homology and coiled-coil more 67.22(n)
    72.19(a)
      561775  NM_001039816.1  NP_001034905.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG133661 CG13366 44.44(n)
    35.11(a)
      31004  NM_001042789.1  NP_001036254.1 


    ENSEMBL Gene Tree for SPECC1L (if available)
    TreeFam Gene Tree for SPECC1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPECC1L gene
    MICALL22  MICAL22  EHBP12  MICAL32  SPECC12  SMTNL22  MICALL12  MICALCL2  
    MICAL12  EHBP1L12  SMTN2  ENSG000002585552  SMTNL12  
    2 SIMAP similar genes for SPECC1L using alignment to 3 protein entries:     CYTSA_HUMAN (see all proteins):
    CYTSA    SPECC1

    SPECC1L for paralogs           About GeneDecksing



    (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

    10/3434 SNPs in SPECC1L are shown (see all 3434)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0668734
    Facial clefting, oblique, 1 (OBLFC1)4--see VAR_0668732 Q P mis40--------
    VAR_0604524
    ----see VAR_0604522 V M mis40--------
    rs1131509871,2
    C--7616401(+) TATAT-/ACATATA 3 -- us2k11Minor allele frequency- AC:0.00CSA 2
    rs48224811,2
    C,F,H--7616402(+) atataT/Catata 3 -- us2k114Minor allele frequency- C:0.43NS EA NA CSA 1981
    rs666114421,2
    C--7616662(+) GCTAC-/CTTTTTCT 3 -- cds10--------
    rs354055341,2
    C--7654679(+) TATCC-/TTTTTT 3 -- int13Minor allele frequency- T:0.17NA CSA 6
    rs713200661,2
    C--7662930(+) CGGGCT/GGGGGG 3 -- int12Minor allele frequency- G:0.00NA 4
    rs81369431,2
    C--7662985(+) cgaggA/Ggctcc 3 -- int10--------
    rs800505591,2
    C--7685628(+) ATGTCC/TTTTTT 3 -- int10--------
    rs1509255861,2
    C--7685628(+) ATGTC-/CTTTTTTT 3 -- int10--------

    HapMap Linkage Disequilibrium report for SPECC1L (24666786 - 24813708 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for SPECC1L (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724041CNV Deletion23290073
    esv996036CNV Deletion20482838
    esv2724068CNV Deletion23290073
    nsv914631CNV Loss21882294
    nsv914634CNV Loss21882294
    nsv914633CNV Loss21882294
    esv24290CNV Gain19812545
    nsv526567CNV Gain19592680
    nsv914629CNV Gain21882294
    nsv834158CNV Gain17160897


    Human Gene Mutation Database (HGMD): SPECC1L
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPECC1L
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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: 614140    OMIM disorders: --

    UniProtKB/Swiss-Prot: CYTSA_HUMAN, Q69YQ0
  • Facial clefting, oblique, 1 (OBLFC1) [MIM:600251]: A rare form of facial clefting. A facial cleft is any
    of the fissures between the embryonic prominences that normally unite to form the face. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 2 diseases for SPECC1L:    About MalaCards
    renal cell carcinoma    


    SPECC1L for disorders           About GeneDecksing


    Export disorders for SPECC1L 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 SPECC1L gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with SPECC1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (1997)
    2. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. (PubMed id 21703590)1, 2 Saadi I.... Maas R.L. (2011)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (1999)
    5. Why do cellular proteins linked to K63-polyubiquitin c hains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (2013)
    6. The P-body component USP52/PAN2 is a novel regulator o f HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (2013)
    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. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Evidence for transcript networks composed of chimeric RNAs in human cells. (PubMed id 22238572)1 Djebali S....Gingeras T.R. (2012)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (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: 23384 HGNC: 29022 AceView: KIAA0376 Ensembl:ENSG00000100014 euGenes: HUgn23384
    ECgene: SPECC1L H-InvDB: SPECC1L

    (According to HUGE)
    About This Section
    HUGE: KIAA0376

    (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 SPECC1L 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 SPECC1L gene:
    Search GeneIP for patents involving SPECC1L

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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