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Aliases for SPATA46 Gene

Aliases for SPATA46 Gene

  • Spermatogenesis Associated 46 2 3 5
  • C1orf111 3 4
  • Spermatogenesis-Associated Protein 46 3
  • Chromosome 1 Open Reading Frame 111 2
  • Uncharacterized Protein C1orf111 3
  • HSD20 3

External Ids for SPATA46 Gene

Previous HGNC Symbols for SPATA46 Gene

  • C1orf111

Summaries for SPATA46 Gene

GeneCards Summary for SPATA46 Gene

SPATA46 (Spermatogenesis Associated 46) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SPATA46 Gene

  • Play a role in spermiogenesis and fertilization.

Additional gene information for SPATA46 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATA46 Gene

Genomics for SPATA46 Gene

Regulatory Elements for SPATA46 Gene

Enhancers for SPATA46 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H162206 1.4 Ensembl ENCODE dbSUPER 9.3 +169.6 169637 2 FOXA2 INSM2 FEZF1 ZNF2 ZBTB40 RAD21 YY1 GLIS2 KLF7 EGR2 C1orf226 SPATA46 LOC105371475 ENSG00000227094
GH01H162151 1.3 ENCODE dbSUPER 10 +224.5 224459 1 FOXA2 ATF1 MLX ARID4B SIN3A FEZF1 YY1 GLIS2 FOS ATF7 USP21 PPOX C1orf226 B4GALT3 ATF6 DUSP12 LOC148430 SPATA46 MIR4654 GC01M162031
GH01H162371 1 ENCODE 12.7 +3.9 3866 3 FOXA2 ATF1 ARNT YY1 TCF12 ZNF766 GATA2 ELK1 ATF7 FOS SPATA46 C1orf226 NOS1AP
GH01H162131 1.2 ENCODE dbSUPER 10 +244.9 244851 1 FOXA2 MLX FEZF1 YY1 ZNF143 SP5 ZHX2 MXD4 REST PPARG C1orf226 OLFML2B SPATA46 MIR4654 GC01M162031
GH01H162143 1.2 ENCODE dbSUPER 10 +231.7 231728 3 ELF3 ZFP64 ARID4B FEZF1 RAD21 RARA ZNF121 GLIS2 THAP11 CEBPB C1orf226 SPATA46 MIR4654 GC01M162031
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPATA46 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPATA46 Gene

Chromosome:
1
Start:
162,373,203 bp from pter
End:
162,376,925 bp from pter
Size:
3,723 bases
Orientation:
Minus strand

Genomic View for SPATA46 Gene

Genes around SPATA46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA46 Gene

Proteins for SPATA46 Gene

  • Protein details for SPATA46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T0L3-SPT46_HUMAN
    Recommended name:
    Spermatogenesis-associated protein 46
    Protein Accession:
    Q5T0L3
    Secondary Accessions:
    • Q6X961
    • Q8NEC3

    Protein attributes for SPATA46 Gene

    Size:
    261 amino acids
    Molecular mass:
    29150 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAP20051.1; Type=Frameshift; Positions=224; Evidence={ECO:0000305};

neXtProt entry for SPATA46 Gene

Post-translational modifications for SPATA46 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPATA46 Gene

No data available for DME Specific Peptides for SPATA46 Gene

Domains & Families for SPATA46 Gene

Gene Families for SPATA46 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPATA46 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPATA46: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SPATA46 Gene

Function for SPATA46 Gene

Molecular function for SPATA46 Gene

UniProtKB/Swiss-Prot Function:
Play a role in spermiogenesis and fertilization.

Phenotypes From GWAS Catalog for SPATA46 Gene

Gene Ontology (GO) - Molecular Function for SPATA46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SPATA46: view

Phenotypes for SPATA46 Gene

GenomeRNAi human phenotypes for SPATA46:
genes like me logo Genes that share phenotypes with SPATA46: view

Animal Model Products

CRISPR Products

miRNA for SPATA46 Gene

miRTarBase miRNAs that target SPATA46

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPATA46
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPATA46 Gene

Localization for SPATA46 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA46 Gene

Nucleus membrane. Note=Located throughout the subacrosomal area. {ECO:0000250 UniProtKB:Q4FZF2}.

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 SPATA46 gene
Compartment Confidence
nucleus 5
extracellular 2
mitochondrion 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SPATA46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016020 membrane IEA --
GO:0031965 nuclear membrane ISS --
genes like me logo Genes that share ontologies with SPATA46: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPATA46 Gene

Pathways & Interactions for SPATA46 Gene

SuperPathways for SPATA46 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPATA46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis ISS --
GO:0007342 fusion of sperm to egg plasma membrane ISS,IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SPATA46: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA46 Gene

Drugs & Compounds for SPATA46 Gene

No Compound Related Data Available

Transcripts for SPATA46 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPATA46
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA46 Gene

No ASD Table

Relevant External Links for SPATA46 Gene

GeneLoc Exon Structure for
SPATA46
ECgene alternative splicing isoforms for
SPATA46

Expression for SPATA46 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of SPATA46 Gene:

SPATA46

mRNA Expression by UniProt/SwissProt for SPATA46 Gene:

Q5T0L3-SPT46_HUMAN
Tissue specificity: Testis-specific (PubMed:27488028).
genes like me logo Genes that share expression patterns with SPATA46: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA46 Gene

Orthologs for SPATA46 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPATA46 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf111 33
  • 99.49 (n)
C1orf111 34
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1565283 33
  • 86.21 (n)
dog
(Canis familiaris)
Mammalia C38H1orf111 33
  • 85.52 (n)
C1orf111 34
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700015E13Rik 34 33
  • 85.22 (n)
OneToOne
Spata46 16
cow
(Bos Taurus)
Mammalia C3H1orf111 34 33
  • 83.13 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C1orf111 34
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf111 34
  • 39 (a)
OneToOne
Species where no ortholog for SPATA46 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 SPATA46 Gene

ENSEMBL:
Gene Tree for SPATA46 (if available)
TreeFam:
Gene Tree for SPATA46 (if available)

Paralogs for SPATA46 Gene

No data available for Paralogs for SPATA46 Gene

Variants for SPATA46 Gene

Sequence variations from dbSNP and Humsavar for SPATA46 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000966874 -- 162,374,828(+) AGGGC(C/T)GTTGG intron-variant, reference, missense, utr-variant-5-prime
rs1001235049 -- 162,373,470(+) GAGAG(C/T)TCAGT downstream-variant-500B
rs1001809097 -- 162,378,829(+) CTGAA(A/G)AGTTT upstream-variant-2KB
rs1002067472 -- 162,377,427(+) CAAAA(C/T)ATAAA upstream-variant-2KB
rs1002133993 -- 162,378,537(+) TTATT(A/G)GTTTA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SPATA46 Gene

Variant ID Type Subtype PubMed ID
esv2758973 CNV gain 17122850
esv34209 CNV gain 17911159
esv3587740 CNV gain 21293372
nsv516482 CNV gain+loss 19592680
nsv818511 CNV gain 17921354

Variation tolerance for SPATA46 Gene

Residual Variation Intolerance Score: 77.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPATA46 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATA46

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA46 Gene

Disorders for SPATA46 Gene

Relevant External Links for SPATA46

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA46
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPATA46

No disorders were found for SPATA46 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPATA46 Gene

Publications for SPATA46 Gene

  1. Deficiency of SPATA46, a Novel Nuclear Membrane Protein, Causes Subfertility in Male Mice. (PMID: 27488028) Chen J … Gui Y (Biology of reproduction 2016) 2 3 4 60
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60

Products for SPATA46 Gene

Sources for SPATA46 Gene

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