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SPECC1L Gene

protein-coding   GIFtS: 49
GCID: GC22P024731

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

(Previous name: SPECC1-like)
  See SPECC1L-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)
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Aliases
Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1-Like1 2 3     OBLFC12 5
Cytokinesis And Spindle Organization A1 2     KIAA03763 5
Renal Carcinoma Antigen NY-REN-222 3     SPECC1-like1
CYTSA2 3     Cytospin A1
SPECC1-Like Protein2 3     cytospin-A2

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 GC22P024708


(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 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 facial clefting, oblique, 1, and commissural facial cleft. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SPECC1L
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC22P024731:  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 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: 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
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: 

  • Ubiquitination2 at Lys382, Lys846, Lys896, Lys904, Lys939, Lys999
  • Modification sites at PhosphoSitePlus

  • See SPECC1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000405671   ENSP00000325785   ENSP00000439633   ENSP00000414354   ENSP00000393363  

    SPECC1L Human Recombinant Protein Products:

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

     
    Search eBioscience for Proteins for SPECC1L 

    SPECC1L Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for SPECC1L

    SPECC1L Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SPECC1L 


    (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 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


    Find genes that share domains with SPECC1L           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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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0046983protein dimerization activity ----
         
    Find genes that share ontologies with SPECC1L           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPECC1L
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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    miRTarBase miRNAs that target SPECC1L:
    hsa-mir-26b-5p (MIRT029692), hsa-mir-339-5p (MIRT042765), hsa-mir-484 (MIRT042319), hsa-mir-186-5p (MIRT045308), hsa-mir-18a-3p (MIRT040797), hsa-mir-421 (MIRT039398), hsa-mir-1301-3p (MIRT036003)

    Block miRNA regulation of human, mouse, rat SPECC1L using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for SPECC1L
    Predesigned siRNA for gene silencing in human, mouse, rat SPECC1L

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SPECC1L

    Clone
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    OriGene clones in human, mouse for SPECC1L (see all 11)
    OriGene ORF clones in mouse, rat for SPECC1L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPECC1L (NM_001145468)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPECC1L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPECC1L

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SPECC1L 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPECC1L


    (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
    CYTSA_HUMAN, Q69YQ0: 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

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center ----
    GO:0005819spindle IEA--
    GO:0005921gap junction IEA--
    GO:0031941filamentous actin ----

    Find genes that share ontologies with SPECC1L           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 SPECC1L
    Interactions:

        Search GeneGlobe Interaction Network for SPECC1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for SPECC1L (Q69YQ02, 3 ENSP000003257854) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    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 
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    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

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

    Find genes that share ontologies with SPECC1L           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 SPECC1L (CYTSA)

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



    Find genes that share compounds with SPECC1L           About GenesLikeMe



    (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 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 ENST00000541492 ENST00000440893
    ENST00000472799 ENST00000437398(uc002zzw.3 uc002zzv.4 uc011ajq.2 uc021wnf.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat SPECC1L using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for SPECC1L
    Predesigned siRNA for gene silencing in human, mouse, rat SPECC1L
    Clone
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    OriGene clones in human, mouse for SPECC1L (see all 11)
    OriGene ORF clones in mouse, rat for SPECC1L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SPECC1L
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPECC1L
      QuantiTect SYBR Green Assays in human, mouse, rat SPECC1L
      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 

    Selected AceView cDNA sequences (see all 228):

    AL044805 BM556934 AI587065 AI032146 AA349475 AI187342 AA904747 BM672041 
    F04670 BQ929263 CF125493 BF513553 AW204326 BP872978 AA564137 AA973843 
    H55557 CB054670 AW440554 R17654 AI205563 CA398182 BE350614 AI440326 

    GeneLoc Exon Structure

    Selected 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™, 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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    SPECC1L expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
    SPECC1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPECC1L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474384
        Custom PCR Arrays for SPECC1L
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPECC1L
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SPECC1L gene from Selected 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 88.42(n)1
    95.34(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 80.42(n)
    91.39(a)
      416950  NM_001044637.1  NP_001038102.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    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 67.09(n)
    72.1(a)
      561775  NM_001039816.1  NP_001034905.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG133666
    --
    29(a)
    1 → many
    X(504579-514228)


    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)
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    Paralogs for SPECC1L gene
    MICALL22  MICAL22  EHBP12  MICAL32  SPECC12  SMTNL22  MICALL12  MICALCL2  
    MICAL12  SPECC1L-ADORA2A2  SMTN2  EHBP1L12  SMTNL12  
    3 SIMAP similar genes for SPECC1L using alignment to 3 protein entries:     CYTSA_HUMAN (see all proteins):
    CYTSA    SPECC1L-ADORA2A    SPECC1

    Find genes that share paralogs with SPECC1L           About GenesLikeMe



    (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 SPECC1L (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--------
    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--------
    rs359625721,2
    C--7741525(+) ACAGA-/GGAAGA 4 -- int12Minor allele frequency- G:0.25NA 4

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPECC1L
    DNA2.0 Custom Variant and Variant Library Synthesis for SPECC1L

    (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.)
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    OMIM gene information: 614140   
    OMIM disorders: 600251  
    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
    facial clefting, oblique, 1    commissural facial cleft


    Find genes that share disorders with SPECC1L           About GenesLikeMe


    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

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    PubMed articles for SPECC1L gene, integrated from 10 sources (see all 28):
    (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. (DNA Res. 1997)
    2. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. (PubMed id 21703590)1, 2 Saadi I.... Maas R.L. (Am. J. Hum. Genet. 2011)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (Int. J. Cancer 1999)
    5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    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. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. Evidence for transcript networks composed of chimeric RNAs in human cells. (PubMed id 22238572)1 Djebali S....Gingeras T.R. (PLoS ONE 2012)

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

    (According to HUGE)
    About This Section

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    HUGE: KIAA0376

    (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 SPECC1L Pharmacogenomics, SNPs, Pathways

    (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 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



    (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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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