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CABS1 Gene

protein-coding   GIFtS: 41
GCID: GC04P071202

Calcium-Binding Protein, Spermatid-Specific 1

(Previous name: chromosome 4 open reading frame 35)
(Previous symbol: C4orf35)
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(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
Calcium-Binding Protein, Spermatid-Specific 11 2     CLPH2
C4orf351 2 3     NYD-SP262
Casein-Like Phosphoprotein1 2     Calcium-Binding And Spermatid-Specific Protein 12
Testis Development Protein NYD-SP262 3     Calcium-Binding Protein, Sperm-Specific 12
Chromosome 4 Open Reading Frame 351     

External Ids:    HGNC: 307101   Entrez Gene: 854382   Ensembl: ENSG000001453097   UniProtKB: Q96KC93   

Export aliases for CABS1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CABS1 Gene:
CABS1 (calcium-binding protein, spermatid-specific 1) is a protein-coding gene. GO annotations related to this gene include calcium ion binding.


(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_000004.11  NC_018915.2  NT_016354.20  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CABS1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCABS1 promoter sequence
   Search Chromatin IP Primers for CABS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CABS1


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

Entrez Gene cytogenetic band: 4q13.3   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q13.3

CABS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CABS1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P071202:  view genomic region     (about GC identifiers)

Start:
71,200,671 bp from pter      End:
71,202,833 bp from pter
Size:
2,163 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., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: CABS1_HUMAN, Q96KC9 (See protein sequence)
Recommended Name: Calcium-binding and spermatid-specific protein 1  
Size: 395 amino acids; 43003 Da
Cofactor: Calcium (By similarity)
Secondary accessions: B2RCB5 Q86UE0 Q96M17

Explore the universe of human proteins at neXtProt for CABS1: NX_Q96KC9

Explore proteomics data for CABS1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CABS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_149113.3  
    ENSEMBL proteins: 
     ENSP00000273936  

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    (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:
     IPR026118 Ca-bd_spermatid

    Graphical View of Domain Structure for InterPro Entry Q96KC9

    ProtoNet protein and cluster: Q96KC9


    Find genes that share domains with CABS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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:0005509calcium ion binding ISS--
         
    Find genes that share ontologies with CABS1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CABS1:
     G2 arrest  Increased G2M DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CABS1

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    (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
    CABS1_HUMAN, Q96KC9: Cytoplasm (By similarity). Mitochondrion (By similarity). Cell projection, cilium, flagellum
    (By similarity). Note=Detected in mitochondria of step 17 to 18 spermatids. Associated with the mitochondrial
    inner membrane in step 18 spermatids (By similarity)

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0031514motile cilium ISS--

    Find genes that share ontologies with CABS1           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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    Interactions:

        Search GeneGlobe Interaction Network for CABS1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis IEA--

    Find genes that share ontologies with CABS1           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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for CABS1



    (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 CABS1 gene: 
    NM_033122.3  

    Unigene Cluster for CABS1:

    Calcium-binding protein, spermatid-specific 1
    Hs.120316  [show with all ESTs]
    Unigene Representative Sequence: BC046111
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000273936(uc003hff.3)
    miRNA
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    Additional mRNA sequence: 

    AF380838.1 AK057459.1 AK315022.1 BC034492.1 BC046111.1 

    3 DOTS entries:

    DT.109044  DT.121249294  DT.95167173 

    Selected AceView cDNA sequences (see all 54):

    AA732886 BI550120 BP368809 BP370547 BP370946 BI465127 AA927638 NM_033122 
    BC046111 BQ429924 BP369828 AK057459 BI559496 AI214833 BI559384 BP368995 
    BI560693 BG721980 BI828111 BP369874 BI827160 AI188203 BQ429055 BI559396 

    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™, 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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    CABS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGAATTGTG
    CABS1 Expression
    About this image

    CABS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CABS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.120316
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    In Situ
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    (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 human and mouse.

    Orthologs for CABS1 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cabs11 , 5 RIKEN cDNA 4931407G18 gene5
    calcium binding protein, spermatid specific 11
    75.06(n)1
    61.95(a)1
      5 (43.56 cM)5
    709771  NM_027631.21  NP_081907.11 
     879794395 


    ENSEMBL Gene Tree for CABS1 (if available)
    TreeFam Gene Tree for CABS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 CABS1 (see all 137)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1114471621,2
    C--71199380(+) GGATGC/TGGAGA 1 -- us2k10--------
    rs2002510891,2
    C--71199777(+) AACACC/TGCATA 1 -- us2k10--------
    rs68463051,2
    C--71199796(+) catagA/Gtggga 1 -- us2k10--------
    rs1435175701,2
    C--71200012(+) ATAAT-/AAAAAA 1 -- us2k10--------
    rs594772631,2
    C--71200059(+) AAAAA-/A/AA  
            
    CAAAA
    1 -- us2k11NA 2
    rs1408351081,2
    C--71200075(+) AAAAAA/GAAAAA 1 -- us2k10--------
    rs351884941,2
    C--71200076(+) AAAGAAA/-AAAAA 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1897332471,2
    --71200178(+) AATTCC/TCTGCT 1 -- us2k10--------
    rs1929320151,2
    --71200206(+) AGCTAC/TACTTA 1 -- us2k10--------
    rs171486371,2
    C,F,H--71200226(+) ACACCA/TTTAAT 1 -- us2k110Minor allele frequency- T:0.05NA NS EA CSA WA 802

    HapMap Linkage Disequilibrium report for CABS1 (71200671 - 71202833 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CABS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv461554CNV Loss19166990
    dgv321n21CNV Loss19592680
    nsv470046CNV Loss18288195
    nsv879467CNV Loss21882294
    nsv829964CNV Gain17160897

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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.)
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      --

    (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 CABS1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CABS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CLPH, a novel casein kinase 2-phosphorylated disordered protein, is specifically associated with postmeiotic germ cells in rat spermatogenesis. (PubMed id 19271754)1, 3 Calvel P....Pineau C. (J. Proteome Res. 2009)
    2. CABS1 is a novel calcium-binding protein specifically expressed in elongate spermatids of mice. (PubMed id 19208547)1, 3 Kawashima A....Okamura N. (Biol. Reprod. 2009)
    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. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. (PubMed id )2 

    (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)
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    Entrez Gene: 85438 HGNC: 30710 AceView: NYD-SP26 Ensembl:ENSG00000145309 euGenes: HUgn85438
    ECgene: CABS1 H-InvDB: CABS1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for CABS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CABS1 gene:
    Search GeneIP for patents involving CABS1

    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, eBioscience, antibodies-online, 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 genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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