Aliases for CABS1 Gene

Aliases for CABS1 Gene

  • Calcium Binding Protein, Spermatid Associated 1 2 3 5
  • Calcium-Binding And Spermatid-Specific Protein 1 3 4
  • Calcium-Binding Protein, Spermatid-Specific 1 2 3
  • Testis Development Protein NYD-SP26 3 4
  • Casein-Like Phosphoprotein 2 3
  • NYD-SP26 2 3
  • C4orf35 3 4
  • CLPH 2 3
  • Calcium-Binding Protein, Sperm-Specific 1 3
  • Chromosome 4 Open Reading Frame 35 2
  • FLJ32897 2
  • CABS1 5

External Ids for CABS1 Gene

Previous HGNC Symbols for CABS1 Gene

  • C4orf35

Previous GeneCards Identifiers for CABS1 Gene

  • GC04P071202

Summaries for CABS1 Gene

GeneCards Summary for CABS1 Gene

CABS1 (Calcium Binding Protein, Spermatid Associated 1) is a Protein Coding gene. Diseases associated with CABS1 include Cataract 38 and Actinomycosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

Additional gene information for CABS1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CABS1 Gene

Genomics for CABS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CABS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J070334 Promoter 0.3 EPDnew 600.7 0.0 -19 0.1 CABS1 piR-55361-423 CSN3
GH04J070372 Enhancer 0.4 FANTOM5 22.1 +37.3 37303 0.1 ATF7 CREB1 ATF2 CABS1 SMR3B OPRPN
GH04J070295 Enhancer 0.5 dbSUPER 0.3 -36.8 -36823 5.7 ZNF316 MAFF MAFK MAFG EMSY piR-38352-416 piR-55361-423 CABS1 CSN3
GH04J070360 Promoter 0.3 EPDnew 0.3 +25.8 25761 0.1 SMR3A CABS1
GH04J070313 Enhancer 0.3 Ensembl 0.4 -21.3 -21280 0.2 EZH2 SMR3A OPRPN piR-55361-423 CABS1 piR-38352-416 CSN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CABS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CABS1

Genomic Locations for CABS1 Gene

Genomic Locations for CABS1 Gene
chr4:70,334,981-70,337,116
(GRCh38/hg38)
Size:
2,136 bases
Orientation:
Plus strand
chr4:71,200,671-71,202,833
(GRCh37/hg19)
Size:
2,163 bases
Orientation:
Plus strand

Genomic View for CABS1 Gene

Genes around CABS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CABS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CABS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CABS1 Gene

Proteins for CABS1 Gene

  • Protein details for CABS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KC9-CABS1_HUMAN
    Recommended name:
    Calcium-binding and spermatid-specific protein 1
    Protein Accession:
    Q96KC9
    Secondary Accessions:
    • B2RCB5
    • Q86UE0
    • Q96M17

    Protein attributes for CABS1 Gene

    Size:
    395 amino acids
    Molecular mass:
    43003 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

neXtProt entry for CABS1 Gene

Post-translational modifications for CABS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CABS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CABS1 Gene

Domains & Families for CABS1 Gene

Gene Families for CABS1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CABS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CABS1 Gene

GenScript: Design optimal peptide antigens:
  • Testis development protein NYD-SP26 (CABS1_HUMAN)
genes like me logo Genes that share domains with CABS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CABS1 Gene

Function for CABS1 Gene

Phenotypes From GWAS Catalog for CABS1 Gene

Gene Ontology (GO) - Molecular Function for CABS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA,ISS --
genes like me logo Genes that share ontologies with CABS1: view
genes like me logo Genes that share phenotypes with CABS1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CABS1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CABS1 Gene

Localization for CABS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CABS1 Gene

Cytoplasm. Mitochondrion. Cell projection, cilium, flagellum. Note=Detected in mitochondria of step 17 to 18 spermatids. Associated with the mitochondrial inner membrane in step 18 spermatids (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CABS1 gene
Compartment Confidence
mitochondrion 4
nucleus 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CABS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA,IBA 21873635
GO:0005929 cilium IEA --
GO:0031514 motile cilium IBA,ISS --
genes like me logo Genes that share ontologies with CABS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CABS1 Gene

Pathways & Interactions for CABS1 Gene

PathCards logo

SuperPathways for CABS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CABS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IBA 21873635
genes like me logo Genes that share ontologies with CABS1: view

No data available for Pathways by source and SIGNOR curated interactions for CABS1 Gene

Drugs & Compounds for CABS1 Gene

No Compound Related Data Available

Transcripts for CABS1 Gene

mRNA/cDNA for CABS1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CABS1

Alternative Splicing Database (ASD) splice patterns (SP) for CABS1 Gene

No ASD Table

Relevant External Links for CABS1 Gene

GeneLoc Exon Structure for
CABS1

Expression for CABS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CABS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for CABS1 Gene

This gene is overexpressed in Testis (x52.3).

Protein differential expression in normal tissues from HIPED for CABS1 Gene

This gene is overexpressed in Ovary (54.1) and Testis (14.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CABS1 Gene



Protein tissue co-expression partners for CABS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CABS1

SOURCE GeneReport for Unigene cluster for CABS1 Gene:

Hs.120316

Evidence on tissue expression from TISSUES for CABS1 Gene

  • Nervous system(4.4)
  • Skin(2.4)
  • Kidney(2.4)
  • Stomach(2.2)
  • Blood(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with CABS1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CABS1 Gene

Orthologs for CABS1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CABS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CABS1 30 31
  • 99.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CABS1 30 31
  • 80.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CABS1 30 31
  • 79.73 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cabs1 30 17 31
  • 75.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cabs1 30
  • 74.18 (n)
Species where no ortholog for CABS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CABS1 Gene

ENSEMBL:
Gene Tree for CABS1 (if available)
TreeFam:
Gene Tree for CABS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CABS1: view image

Paralogs for CABS1 Gene

No data available for Paralogs for CABS1 Gene

Variants for CABS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CABS1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
791441 Benign: not provided 70,335,082(+) A/G MISSENSE_VARIANT
rs1351419 - p.Thr211Ile
rs2291182 - p.Trp298Gly
rs3796706 - p.Lys76Gln

Additional dbSNP identifiers (rs#s) for CABS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CABS1 Gene

Variant ID Type Subtype PubMed ID
dgv321n21 CNV loss 19592680
dgv9127n54 CNV loss 21841781
nsv1006332 CNV loss 25217958
nsv1012495 CNV gain 25217958
nsv1125815 CNV tandem duplication 24896259
nsv461554 CNV loss 19166990
nsv470046 CNV loss 18288195
nsv829964 CNV gain 17160897

Variation tolerance for CABS1 Gene

Residual Variation Intolerance Score: 70.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.05; 80.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CABS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CABS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CABS1 Gene

Disorders for CABS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CABS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cataract 38
  • ctrct38
actinomycosis
  • actinomycetoma
- elite association - COSMIC cancer census association via MalaCards
Search CABS1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CABS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CABS1 Gene

Publications for CABS1 Gene

  1. A novel biomarker associated with distress in humans: calcium-binding protein, spermatid-specific 1 (CABS1). (PMID: 28381457) Ritz T … Befus AD (American journal of physiology. Regulatory, integrative and comparative physiology 2017) 2 3
  2. CABS1 is a novel calcium-binding protein specifically expressed in elongate spermatids of mice. (PMID: 19208547) Kawashima A … Okamura N (Biology of reproduction 2009) 2 3
  3. CLPH, a novel casein kinase 2-phosphorylated disordered protein, is specifically associated with postmeiotic germ cells in rat spermatogenesis. (PMID: 19271754) Calvel P … Pineau C (Journal of proteome research 2009) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for CABS1 Gene

Sources for CABS1 Gene