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Aliases for SPATC1L Gene

Aliases for SPATC1L Gene

  • Spermatogenesis And Centriole Associated 1 Like 2 3 5
  • Spermatogenesis And Centriole-Associated Protein 1-Like Protein 3 4
  • Speriolin-Like Protein 2 3
  • C21orf56 3 4
  • Spermatogenesis And Centriole Associated 1-Like 2
  • Chromosome 21 Open Reading Frame 56 2

External Ids for SPATC1L Gene

Previous HGNC Symbols for SPATC1L Gene

  • C21orf56

Previous GeneCards Identifiers for SPATC1L Gene

  • GC21M047582
  • GC21M046163
  • GC21M046170
  • GC21M046175
  • GC21M046177
  • GC21M046178
  • GC21M046179
  • GC21M046180

Summaries for SPATC1L Gene

GeneCards Summary for SPATC1L Gene

SPATC1L (Spermatogenesis And Centriole Associated 1 Like) is a Protein Coding gene. An important paralog of this gene is SPATC1.

Gene Wiki entry for SPATC1L Gene

Additional gene information for SPATC1L Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPATC1L Gene

Genomics for SPATC1L Gene

GeneHancer (GH) Regulatory Elements for SPATC1L Gene

Promoters and enhancers for SPATC1L 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
GH21I046182 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 601.2 +1.1 1067 4.1 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A ZBTB7B TCF12 POLR2B ZNF766 SPATC1L ENSG00000228404 MCM3AP YBEY MCM3AP-AS1 COL6A2 LOC105372842 ENSG00000228137 FTCD LSS
GH21I046173 Promoter 0.5 EPDnew 550.4 +11.2 11163 0.1 SPATC1L LSS PIR34063 FTCD
GH21I046319 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 28.9 -138.2 -138180 6.7 CLOCK DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 C21orf58 PCNT ENSG00000228137 MCM3AP ENSG00000227438 MCM3AP-AS1 DIP2A SPATC1L YBEY COL6A1
GH21I046226 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 21.9 -43.2 -43245 4.9 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B POLR2B MCM3AP-AS1 LSS MCM3AP YBEY SPATC1L ENSG00000228137 COL6A1 PIR60990
GH21I046152 Enhancer 1.2 Ensembl ENCODE 27.2 +31.7 31669 2.2 ATF1 FOXA2 ARID4B DMAP1 ZNF48 YY1 TCF12 ZNF766 GLIS2 ARID2 FTCD-AS1 MCM3AP SPATC1L ENSG00000228137 MCM3AP-AS1 DIP2A POFUT2 FTCD YBEY
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPATC1L on UCSC Golden Path with GeneCards custom track

Genomic Locations for SPATC1L Gene

Genomic Locations for SPATC1L Gene
chr21:46,161,148-46,185,149
(GRCh38/hg38)
Size:
24,002 bases
Orientation:
Minus strand
chr21:47,581,062-47,604,390
(GRCh37/hg19)

Genomic View for SPATC1L Gene

Genes around SPATC1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATC1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATC1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATC1L Gene

Proteins for SPATC1L Gene

  • Protein details for SPATC1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0A9-SPC1L_HUMAN
    Recommended name:
    Speriolin-like protein
    Protein Accession:
    Q9H0A9
    Secondary Accessions:
    • B4E323
    • Q52LS9
    • Q6FIH5
    • Q6P0L3
    • Q9NSE5

    Protein attributes for SPATC1L Gene

    Size:
    340 amino acids
    Molecular mass:
    37613 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Highly variable expression among individuals is associated with differential sensitivity to the DNA alkylating agent N-methyl-N-nitro-N-nitrosoguanidine (MNNG), decreased expression being associated with increased sensitivity.
    SequenceCaution:
    • Sequence=BAA95497.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SPATC1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPATC1L Gene

Post-translational modifications for SPATC1L Gene

No Post-translational modifications

Other Protein References for SPATC1L Gene

No data available for DME Specific Peptides for SPATC1L Gene

Domains & Families for SPATC1L Gene

Gene Families for SPATC1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPATC1L Gene

Graphical View of Domain Structure for InterPro Entry

Q9H0A9

UniProtKB/Swiss-Prot:

SPC1L_HUMAN :
  • Belongs to the speriolin family.
Family:
  • Belongs to the speriolin family.
genes like me logo Genes that share domains with SPATC1L: view

No data available for Suggested Antigen Peptide Sequences for SPATC1L Gene

Function for SPATC1L Gene

Phenotypes From GWAS Catalog for SPATC1L Gene

Gene Ontology (GO) - Molecular Function for SPATC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SPATC1L: view
genes like me logo Genes that share phenotypes with SPATC1L: view

Animal Model Products

CRISPR Products

miRNA for SPATC1L Gene

miRTarBase miRNAs that target SPATC1L

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPATC1L Gene

Localization for SPATC1L Gene

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 SPATC1L gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 3
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPATC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005813 centrosome IBA --
genes like me logo Genes that share ontologies with SPATC1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SPATC1L Gene

Pathways & Interactions for SPATC1L Gene

SuperPathways for SPATC1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPATC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with SPATC1L: view

No data available for Pathways by source and SIGNOR curated interactions for SPATC1L Gene

Drugs & Compounds for SPATC1L Gene

No Compound Related Data Available

Transcripts for SPATC1L Gene

Unigene Clusters for SPATC1L Gene

Spermatogenesis and centriole associated 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPATC1L Gene

No ASD Table

Relevant External Links for SPATC1L Gene

GeneLoc Exon Structure for
SPATC1L
ECgene alternative splicing isoforms for
SPATC1L

Expression for SPATC1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPATC1L Gene

mRNA differential expression in normal tissues according to GTEx for SPATC1L Gene

This gene is overexpressed in Testis (x5.0).

Protein differential expression in normal tissues from HIPED for SPATC1L Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPATC1L Gene



Protein tissue co-expression partners for SPATC1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPATC1L Gene:

SPATC1L

SOURCE GeneReport for Unigene cluster for SPATC1L Gene:

Hs.381214

Evidence on tissue expression from TISSUES for SPATC1L Gene

  • Eye(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SPATC1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATC1L Gene

Orthologs for SPATC1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPATC1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPATC1L 33 34
  • 98.33 (n)
dog
(Canis familiaris)
Mammalia SPATC1L 33 34
  • 85.74 (n)
cow
(Bos Taurus)
Mammalia SPATC1L 33
  • 85.6 (n)
C1H21ORF56 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spatc1l 33 16 34
  • 82.1 (n)
rat
(Rattus norvegicus)
Mammalia Spatc1l 33
  • 82.07 (n)
oppossum
(Monodelphis domestica)
Mammalia SPATC1L 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPATC1L 34
  • 40 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToMany
Species where no ortholog for SPATC1L 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 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 SPATC1L Gene

ENSEMBL:
Gene Tree for SPATC1L (if available)
TreeFam:
Gene Tree for SPATC1L (if available)

Paralogs for SPATC1L Gene

Paralogs for SPATC1L Gene

(1) SIMAP similar genes for SPATC1L Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SPATC1L: view

Variants for SPATC1L Gene

Sequence variations from dbSNP and Humsavar for SPATC1L Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs113146399 benign, not specified 46,162,035(-) C/G/T coding_sequence_variant, missense_variant
rs113710653 benign, not specified 46,161,921(-) C/T coding_sequence_variant, missense_variant
rs14378 benign, not specified 46,161,509(-) C/A/G/T coding_sequence_variant, missense_variant
rs1000205608 -- 46,178,901(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000245231 -- 46,165,936(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SPATC1L Gene

Variant ID Type Subtype PubMed ID
nsv3545 CNV insertion 18451855
nsv470910 CNV gain 18288195
nsv470911 CNV loss 18288195
nsv509804 CNV insertion 20534489
nsv519904 CNV loss 19592680
nsv525728 CNV loss 19592680
nsv587952 CNV loss 21841781
nsv587954 CNV loss 21841781
nsv587956 CNV loss 21841781
nsv587957 CNV gain+loss 21841781
nsv587964 CNV loss 21841781
nsv953658 CNV deletion 24416366
nsv187209 CNV deletion 16902084
nsv1125228 CNV insertion 24896259
nsv1073141 CNV deletion 25765185
nsv1061087 CNV loss 25217958
nsv1060978 CNV gain 25217958
esv3647163 CNV loss 21293372
esv3427650 CNV duplication 20981092
esv2723903 CNV deletion 23290073
esv2723902 CNV deletion 23290073
esv25460 CNV loss 19812545
esv25247 CNV loss 19812545
esv2076361 CNV deletion 18987734
esv1674225 CNV deletion 17803354
dgv7925n54 CNV loss 21841781
dgv7924n54 CNV loss 21841781
dgv7923n54 CNV loss 21841781
dgv7922n54 CNV gain 21841781
dgv2515e59 CNV duplication 20981092

Variation tolerance for SPATC1L Gene

Residual Variation Intolerance Score: 88.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.07; 87.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPATC1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPATC1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATC1L Gene

Disorders for SPATC1L Gene

Additional Disease Information for SPATC1L

No disorders were found for SPATC1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPATC1L Gene

Publications for SPATC1L Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58
  3. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
  4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58
  5. Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies. (PMID: 28339009) Yamada Y … Tanaka M (International journal of molecular medicine 2017) 3 58

Products for SPATC1L Gene

Sources for SPATC1L Gene

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