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Aliases for SPATA46 Gene

Aliases for SPATA46 Gene

  • Spermatogenesis Associated 46 2 3
  • C1orf111 3 4 5
  • Chromosome 1 Open Reading Frame 111 2 5
  • 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.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , 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
GH01F162371 0.7 Ensembl ENCODE 12.7 +3.9 3866 3.7 ATF1 PKNOX1 YY1 GATA2 FOS KLF13 SP3 YY2 NCOA1 SMARCB1 SPATA46 C1orf226 NOS1AP
GH01F162326 0.2 Ensembl 10.9 +49.3 49325 1.6 HLF CEBPG C1orf226 SPATA46 SH2D1B ENSG00000227094 RNA5SP61
GH01F162328 0.2 Ensembl 10.9 +48.2 48225 0.2 ZFHX2 ZNF341 EGR2 C1orf226 SPATA46 SH2D1B RNA5SP61 ENSG00000227094
GH01F162421 0.6 Ensembl ENCODE 10.5 -44.9 -44936 1.4 HDGF PKNOX1 ATF1 ARNT ZNF2 GATA2 NCOA1 REST MBD2 ZNF610 SPATA46 C1orf226 SLAMF6P1 UHMK1 LOC105373471
GH01F162418 0.6 ENCODE 10.5 -42.8 -42756 1.6 HDAC1 NFRKB RAD21 YY1 GTF3C2 GATA2 POLR3A SCRT2 CREM EGR2 UHMK1 SPATA46 C1orf226 ATF6 SLAMF6P1 LOC105373471 SH2D1B
- Elite enhancer/Elite enhancer-gene association Download Table
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-CA111_HUMAN
    Recommended name:
    Uncharacterized protein C1orf111
    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

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 Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SPATA46 Gene

Function 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

miRNA for SPATA46 Gene

miRTarBase miRNAs that target SPATA46

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for SPATA46 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for SPATA46 Gene

Pathways & Interactions for SPATA46 Gene

SuperPathways for SPATA46 Gene

No Data Available

Interacting Proteins for SPATA46 Gene

Gene Ontology (GO) - Biological Process for SPATA46 Gene

None

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

Transcripts for SPATA46 Gene

mRNA/cDNA for SPATA46 Gene

Unigene Clusters for SPATA46 Gene

Chromosome 1 open reading frame 111:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

NURSA nuclear receptor signaling pathways regulating expression of SPATA46 Gene:

SPATA46

SOURCE GeneReport for Unigene cluster for SPATA46 Gene:

Hs.97784
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34
  • 99.49 (n)
C1orf111 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1565283 34
  • 86.21 (n)
dog
(Canis familiaris)
Mammalia C38H1orf111 34
  • 85.52 (n)
C1orf111 35
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700015E13Rik 34 16 35
  • 85.22 (n)
cow
(Bos Taurus)
Mammalia C3H1orf111 34 35
  • 83.13 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf111 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf111 35
  • 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
rs1052290 -- 162,374,414(-) TGTTC(A/G)TCCTC downstream-variant-500B, reference, synonymous-codon
rs10919290 -- 162,377,668(+) atttg(C/T)tgtat upstream-variant-2KB
rs10919293 -- 162,377,828(+) TTTTC(A/G)GTGGT upstream-variant-2KB
rs111617287 -- 162,373,333(+) AAGCA(A/G)TAGGT downstream-variant-500B
rs112236688 -- 162,376,935(+) GATGA(A/G)TGGAG upstream-variant-2KB, utr-variant-5-prime

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

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. (Biol. Reprod. 2016) 2 3 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3 64

Products for SPATA46 Gene

Sources for SPATA46 Gene

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