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Aliases for SPAG5 Gene

Aliases for SPAG5 Gene

  • Sperm Associated Antigen 5 2 3 5
  • Astrin 2 3 4
  • Mitotic Spindle Coiled-Coil Related Protein 2 3
  • Mitotic Spindle Associated Protein P126 2 3
  • DEEPEST 3 4
  • MAP126 3 4
  • Mitotic Spindle-Associated Protein P126 4
  • Sperm-Associated Antigen 5 3
  • HMAP126 3

External Ids for SPAG5 Gene

Previous GeneCards Identifiers for SPAG5 Gene

  • GC17M026749
  • GC17M028804
  • GC17M027050
  • GC17M023928
  • GC17M026904
  • GC17M023113

Summaries for SPAG5 Gene

Entrez Gene Summary for SPAG5 Gene

  • This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPAG5 Gene

SPAG5 (Sperm Associated Antigen 5) is a Protein Coding gene. Diseases associated with SPAG5 include Patellar Tendinitis and Cryptorchidism. An important paralog of this gene is ENSG00000258472.

UniProtKB/Swiss-Prot for SPAG5 Gene

  • Essential component of the mitotic spindle required for normal chromosome segregation and progression into anaphase (PubMed:11724960, PubMed:12356910, PubMed:27462074). Required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:17664331, PubMed:27462074). In complex with SKAP, promotes stable microtubule-kinetochore attachments. May contribute to the regulation of separase activity. May regulate AURKA localization to mitotic spindle, but not to centrosomes and CCNB1 localization to both mitotic spindle and centrosomes (PubMed:18361916, PubMed:21402792). Involved in centriole duplication. Required for CDK5RAP2, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). In non-mitotic cells, upon stress induction, inhibits mammalian target of rapamycin complex 1 (mTORC1) association and recruits the mTORC1 component RPTOR to stress granules (SGs), thereby preventing mTORC1 hyperactivation-induced apoptosis (PubMed:23953116). May enhance GSK3B-mediated phosphorylation of other substrates, such as MAPT/TAU (PubMed:18055457).

Gene Wiki entry for SPAG5 Gene

Additional gene information for SPAG5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPAG5 Gene

Genomics for SPAG5 Gene

Regulatory Elements for SPAG5 Gene

Enhancers for SPAG5 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
GH17H028944 1.7 FANTOM5 ENCODE dbSUPER 4.9 -350.1 -350060 8 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 ZC3H11A NFYC MEF2D ZNF610 ENSG00000264577 NUFIP2 SUPT6H SDF2 PHF12 RPL23A ENSG00000265205 ENSG00000265908 TMEM199 MYO18A
GH17H028660 1.4 ENCODE dbSUPER 4.3 -63.1 -63147 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 PROCA1 SUPT6H SNORD42A SNORD4B SGK494 SPAG5-AS1 NEK8 TLCD1 SPAG5 SDF2
GH17H029412 0.8 Ensembl ENCODE 5.7 -814.0 -814010 2 HIC1 ZNF366 JUN CEBPB ZNF600 ENSG00000264808 SPAG5 PROCA1 GC17P029413 GC17P029414 GC17P029415 GC17P029416 GC17P029417 GC17P029418 GC17P029419
GH17H028500 1.1 FANTOM5 ENCODE 2.4 +98.2 98150 0 BACH1 MAX EBF1 ZIC2 RELA POLR2A FOXK2 EED ZNF207 MAZ UNC119 PIGS SPAG5-AS1 SGK494 SLC46A1 KIAA0100 FOXN1 SPAG5 SEBOX TMEM97
GH17H028863 1.9 FANTOM5 Ensembl ENCODE dbSUPER 1.3 -266.1 -266058 3 HDGF ARNT ARID4B ZNF766 CBX5 ZC3H11A JUNB REST SMARCB1 ZNF592 DHRS13 PROCA1 FLOT2 NEK8 TLCD1 SNORD4B SNORD42A RPL23A RAB34 SNORD42B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPAG5 on UCSC Golden Path with GeneCards custom track

Promoters for SPAG5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092746 179 1801 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 FOS DEK

Genomic Location for SPAG5 Gene

Chromosome:
17
Start:
28,577,565 bp from pter
End:
28,599,279 bp from pter
Size:
21,715 bases
Orientation:
Minus strand

Genomic View for SPAG5 Gene

Genes around SPAG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPAG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPAG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPAG5 Gene

Proteins for SPAG5 Gene

  • Protein details for SPAG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96R06-SPAG5_HUMAN
    Recommended name:
    Sperm-associated antigen 5
    Protein Accession:
    Q96R06
    Secondary Accessions:
    • O95213
    • Q9BWE8
    • Q9NT17
    • Q9UFE6

    Protein attributes for SPAG5 Gene

    Size:
    1193 amino acids
    Molecular mass:
    134422 Da
    Quaternary structure:
    • Homodimer, with a globular head domain and a long stalk. Homooligomer; the globular head domains associate, resulting in aster-like structures. Binds to microtubules in the mitotic spindle (PubMed:27462074). Interacts with DCLRE1B/Apollo. Part of an astrin (SPAG5)-kinastrin (SKAP) complex containing KNSTRN, SPAG5, PLK1, DYNLL1 and SGO2. Interacts with KNSTRN. Interacts with RPTOR; this interaction competes with RPTOR binding to MTOR, resulting in decreased mTORC1 formation. Interacts with G3BP1. The complex formed with G3BP1 AND RPTOR is increased by oxidative stress. Interacts with OSBPL8, PCM1 and CDK5RAP2 (PubMed:24424245, PubMed:26297806). Interacts (via C-terminus) with NUMA1 (via C-terminus); this interaction promotes the recruitment of SPAG5 to the microtubules at spindle poles in a dynein-dynactin-dependent manner (PubMed:27462074).
    SequenceCaution:
    • Sequence=AAD02813.1; Type=Frameshift; Positions=1093; Evidence={ECO:0000305}; Sequence=AAL06396.2; Type=Frameshift; Positions=1135; Evidence={ECO:0000305};

neXtProt entry for SPAG5 Gene

Post-translational modifications for SPAG5 Gene

  • Phosphorylated by AURKA.
  • Ubiquitination at posLast=483483, posLast=488488, posLast=578578, and Lys672
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPAG5 Gene

Domains & Families for SPAG5 Gene

Gene Families for SPAG5 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPAG5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPAG5 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPAG5: view

No data available for UniProtKB/Swiss-Prot for SPAG5 Gene

Function for SPAG5 Gene

Molecular function for SPAG5 Gene

UniProtKB/Swiss-Prot Function:
Essential component of the mitotic spindle required for normal chromosome segregation and progression into anaphase (PubMed:11724960, PubMed:12356910, PubMed:27462074). Required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:17664331, PubMed:27462074). In complex with SKAP, promotes stable microtubule-kinetochore attachments. May contribute to the regulation of separase activity. May regulate AURKA localization to mitotic spindle, but not to centrosomes and CCNB1 localization to both mitotic spindle and centrosomes (PubMed:18361916, PubMed:21402792). Involved in centriole duplication. Required for CDK5RAP2, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). In non-mitotic cells, upon stress induction, inhibits mammalian target of rapamycin complex 1 (mTORC1) association and recruits the mTORC1 component RPTOR to stress granules (SGs), thereby preventing mTORC1 hyperactivation-induced apoptosis (PubMed:23953116). May enhance GSK3B-mediated phosphorylation of other substrates, such as MAPT/TAU (PubMed:18055457).
UniProtKB/Swiss-Prot Induction:
Expression is cell cycle-regulated, with an increase from prophase to cytokinesis and return to basal levels at the next G1 phase.

Gene Ontology (GO) - Molecular Function for SPAG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19197158
GO:0008017 microtubule binding IDA 27462074
genes like me logo Genes that share ontologies with SPAG5: view
genes like me logo Genes that share phenotypes with SPAG5: view

Animal Models for SPAG5 Gene

MGI Knock Outs for SPAG5:

Animal Model Products

CRISPR Products

miRNA for SPAG5 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SPAG5
  • Applied Biological Materials Clones for SPAG5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPAG5 Gene

Localization for SPAG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPAG5 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Chromosome, centromere, kinetochore. Midbody. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasmic granule. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Colocalizes with PCM1 at centriolar satellites throughout the cell cycle (PubMed:26297806). In a punctate pattern in interphase cells. During mitosis, detected at spindle poles during prophase, throughout the spindle in metaphase and anaphase, and at midzone microtubules in anaphase and telophase (PubMed:27462074). Efficient targeting to the mitotic spindle may depend upon phosphorylation by GSK3B. Detected on kinetochores of chromosomes that have congressed. The astrin (SPAG5)-kinastrin (SKAP) complex localizes to the microtubule plus ends (By similarity). In non-mitotic non-stressed cells, shows a microtubuli pattern. In arsenite-stressed cells, accumulates in stress granules. {ECO:0000250, ECO:0000269 PubMed:26297806, ECO:0000269 PubMed:27462074}.

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 SPAG5 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SPAG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IDA,IEA 21402792
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IEA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with SPAG5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPAG5 Gene

Pathways & Interactions for SPAG5 Gene

SuperPathways for SPAG5 Gene

No Data Available

SIGNOR curated interactions for SPAG5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SPAG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IMP 21402792
GO:0007049 cell cycle IEA --
GO:0007051 spindle organization IMP 21402792
GO:0007059 chromosome segregation IMP 21402792
GO:0032388 positive regulation of intracellular transport IMP 27462074
genes like me logo Genes that share ontologies with SPAG5: view

No data available for Pathways by source for SPAG5 Gene

Drugs & Compounds for SPAG5 Gene

No Compound Related Data Available

Transcripts for SPAG5 Gene

Unigene Clusters for SPAG5 Gene

Sperm associated antigen 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SPAG5
  • Applied Biological Materials Clones for SPAG5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SPAG5 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a ·
SP1: - -
SP2:
SP3: - - - -
SP4: -
SP5: - - - - - - - -
SP6:
SP7: -
SP8:
SP9: - - -

ExUns: 17b · 17c ^ 18 ^ 19 ^ 20a · 20b · 20c ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for SPAG5 Gene

GeneLoc Exon Structure for
SPAG5
ECgene alternative splicing isoforms for
SPAG5

Expression for SPAG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPAG5 Gene

mRNA differential expression in normal tissues according to GTEx for SPAG5 Gene

This gene is overexpressed in Testis (x6.5) and Kidney - Cortex (x5.7).

Protein differential expression in normal tissues from HIPED for SPAG5 Gene

This gene is overexpressed in Cervix (34.4), Plasma (14.6), Testis (11.4), and Bone (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPAG5 Gene



Protein tissue co-expression partners for SPAG5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPAG5 Gene:

SPAG5

SOURCE GeneReport for Unigene cluster for SPAG5 Gene:

Hs.514033

mRNA Expression by UniProt/SwissProt for SPAG5 Gene:

Q96R06-SPAG5_HUMAN
Tissue specificity: Highly expressed in testis. Detected at low levels in placenta, liver, pancreas, thymus and colon.

Evidence on tissue expression from TISSUES for SPAG5 Gene

  • Lung(4.4)
  • Skin(2.5)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with SPAG5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPAG5 Gene

Orthologs for SPAG5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPAG5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPAG5 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPAG5 33 34
  • 86.21 (n)
cow
(Bos Taurus)
Mammalia SPAG5 33 34
  • 85.13 (n)
rat
(Rattus norvegicus)
Mammalia Spag5 33
  • 78.08 (n)
mouse
(Mus musculus)
Mammalia Spag5 33 16 34
  • 78.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 54 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 51 (a)
OneToMany
chicken
(Gallus gallus)
Aves SPAG5 33
  • 48.6 (n)
-- 34
  • 26 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii SPAG5 34
  • 14 (a)
OneToMany
Species where no ortholog for SPAG5 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)
  • 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)

Evolution for SPAG5 Gene

ENSEMBL:
Gene Tree for SPAG5 (if available)
TreeFam:
Gene Tree for SPAG5 (if available)

Paralogs for SPAG5 Gene

Paralogs for SPAG5 Gene

genes like me logo Genes that share paralogs with SPAG5: view

Variants for SPAG5 Gene

Sequence variations from dbSNP and Humsavar for SPAG5 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000006500 -- 28,597,416(+) CCGTC(A/T)CAAAA intron-variant, upstream-variant-2KB
rs1000182859 -- 28,587,007(+) GCCTC(A/G)GACTT intron-variant
rs1000204971 -- 28,597,192(+) CGGGC(A/G)GACCA intron-variant, upstream-variant-2KB
rs1000519733 -- 28,595,292(+) ATGAG(C/T)GTGTG intron-variant
rs1000531152 -- 28,595,577(+) ACCCC(A/G)CCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPAG5 Gene

Variant ID Type Subtype PubMed ID
esv3572531 CNV gain 25503493
nsv1064087 CNV gain 25217958
nsv962300 CNV duplication 23825009

Variation tolerance for SPAG5 Gene

Residual Variation Intolerance Score: 82.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPAG5 Gene

Human Gene Mutation Database (HGMD)
SPAG5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPAG5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPAG5 Gene

Disorders for SPAG5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPAG5 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
patellar tendinitis
  • patellar tendonitis
cryptorchidism
  • cryptorchism
- elite association - COSMIC cancer census association via MalaCards
Search SPAG5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPAG5

Genetic Association Database (GAD)
SPAG5
Human Genome Epidemiology (HuGE) Navigator
SPAG5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPAG5
genes like me logo Genes that share disorders with SPAG5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPAG5 Gene

Publications for SPAG5 Gene

  1. Astrin regulates Aurora-A localization. (PMID: 18361916) Du J … Hannon GJ (Biochemical and biophysical research communications 2008) 3 4 22 60
  2. Glycogen synthase kinase 3beta interacts with and phosphorylates the spindle-associated protein astrin. (PMID: 18055457) Cheng TS … Hong YR (The Journal of biological chemistry 2008) 3 4 22 60
  3. Astrin is required for the maintenance of sister chromatid cohesion and centrosome integrity. (PMID: 17664331) Thein KH … Gruneberg U (The Journal of cell biology 2007) 3 4 22 60
  4. The mitotic-spindle-associated protein astrin is essential for progression through mitosis. (PMID: 12356910) Gruber J … Hatzfeld M (Journal of cell science 2002) 3 4 22 60
  5. Analysis of mitotic microtubule-associated proteins using mass spectrometry identifies astrin, a spindle-associated protein. (PMID: 11724960) Mack GJ … Compton DA (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22 60

Products for SPAG5 Gene

  • Addgene plasmids for SPAG5

Sources for SPAG5 Gene

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