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Aliases for SPAG1 Gene

Aliases for SPAG1 Gene

  • Sperm Associated Antigen 1 2 3
  • Infertility-Related Sperm Protein Spag-1 3 4
  • HSD-3.8 3 4
  • CILD28 3 6
  • TPR-Containing Protein Involved In Spermatogenesis 3
  • Tetratricopeptide Repeat-Containing Protein 3
  • Sperm-Associated Antigen 1 3
  • CT140 3
  • SP75 3
  • TPIS 3

External Ids for SPAG1 Gene

Previous GeneCards Identifiers for SPAG1 Gene

  • GC08P100176
  • GC08P101240
  • GC08P100839
  • GC08P101126
  • GC08P101239
  • GC08P101170
  • GC08P096373

Summaries for SPAG1 Gene

Entrez Gene Summary for SPAG1 Gene

  • The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPAG1 Gene

SPAG1 (Sperm Associated Antigen 1) is a Protein Coding gene. Diseases associated with SPAG1 include ciliary dyskinesia, primary, 28 and epilepsy, nocturnal frontal lobe, 5. GO annotations related to this gene include GTP binding and hydrolase activity. An important paralog of this gene is TOMM34.

UniProtKB/Swiss-Prot for SPAG1 Gene

  • May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity.

Gene Wiki entry for SPAG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPAG1 Gene

Genomics for SPAG1 Gene

Regulatory Elements for SPAG1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SPAG1 Gene

Start:
100,157,906 bp from pter
End:
100,259,278 bp from pter
Size:
101,373 bases
Orientation:
Plus strand

Genomic View for SPAG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPAG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPAG1 Gene

Proteins for SPAG1 Gene

  • Protein details for SPAG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07617-SPAG1_HUMAN
    Recommended name:
    Sperm-associated antigen 1
    Protein Accession:
    Q07617
    Secondary Accessions:
    • A6NP70
    • B3KQ58
    • G3XAM3
    • Q7Z5G1

    Protein attributes for SPAG1 Gene

    Size:
    926 amino acids
    Molecular mass:
    103639 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Antibodies against SPAG1 interfere with fertilization.
    SequenceCaution:
    • Sequence=AAH55091.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for SPAG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPAG1 Gene

Proteomics data for SPAG1 Gene at MOPED

Post-translational modifications for SPAG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPAG1 Gene

No data available for DME Specific Peptides for SPAG1 Gene

Domains for SPAG1 Gene

Gene Families for SPAG1 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Protein Domains for SPAG1 Gene

Suggested Antigen Peptide Sequences for SPAG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q07617

UniProtKB/Swiss-Prot:

SPAG1_HUMAN :
  • Q07617
Similarity:
  • Contains 9 TPR repeats.
genes like me logo Genes that share domains with SPAG1: view

Function for SPAG1 Gene

Molecular function for SPAG1 Gene

GENATLAS Biochemistry: sperm associated antigen 1,75kDa
UniProtKB/Swiss-Prot Function: May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity.

Gene Ontology (GO) - Molecular Function for SPAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0005525 GTP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with SPAG1: view

Phenotypes for SPAG1 Gene

GenomeRNAi human phenotypes for SPAG1:
genes like me logo Genes that share phenotypes with SPAG1: view

Animal Model Products

CRISPR Products

miRNA for SPAG1 Gene

miRTarBase miRNAs that target SPAG1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SPAG1 Gene

Localization for SPAG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPAG1 Gene

Cytoplasm. Note=Colocalizes with tubulin.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPAG1 Gene COMPARTMENTS Subcellular localization image for SPAG1 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for SPAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with SPAG1: view

Pathways for SPAG1 Gene

SuperPathways for SPAG1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007338 single fertilization IEA --
GO:0008152 metabolic process IEA --
GO:0070286 axonemal dynein complex assembly ISS --
genes like me logo Genes that share ontologies with SPAG1: view

No data available for Pathways by source for SPAG1 Gene

Compounds for SPAG1 Gene

(1) HMDB Compounds for SPAG1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with SPAG1: view

Transcripts for SPAG1 Gene

Unigene Clusters for SPAG1 Gene

Sperm associated antigen 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPAG1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SPAG1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPAG1 Gene

No ASD Table

Relevant External Links for SPAG1 Gene

GeneLoc Exon Structure for
SPAG1
ECgene alternative splicing isoforms for
SPAG1

Expression for SPAG1 Gene

mRNA expression in normal human tissues for SPAG1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPAG1 Gene

SOURCE GeneReport for Unigene cluster for SPAG1 Gene Hs.591866

mRNA Expression by UniProt/SwissProt for SPAG1 Gene

Q07617-SPAG1_HUMAN
Tissue specificity: Present in most tissues, including lung, with the strongest expression in brain, colon, kidney, and testis. In sperm and testis, detected in particular in pachytene primary spermatocytes. Up-regulated in pancreatic tumor tissues and not in normal pancreatic tissue.
genes like me logo Genes that share expressions with SPAG1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SPAG1 Gene

Orthologs for SPAG1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SPAG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPAG1 35
  • 98.63 (n)
  • 98.38 (a)
SPAG1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPAG1 35
  • 84.42 (n)
  • 80.94 (a)
SPAG1 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPAG1 35
  • 82.96 (n)
  • 79.19 (a)
SPAG1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spag1 35
  • 77.03 (n)
  • 71.94 (a)
Spag1 16
Spag1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Spag1 35
  • 75.73 (n)
  • 71.1 (a)
chicken
(Gallus gallus)
Aves SPAG1 35
  • 64.69 (n)
  • 56.03 (a)
SPAG1 36
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPAG1 36
  • 51 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4427 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1631 35
zebrafish
(Danio rerio)
Actinopterygii spag1a 35
  • 62.77 (n)
  • 58.76 (a)
spag1a 36
  • 44 (a)
OneToMany
spag1b 36
  • 28 (a)
OneToMany
spag1b 36
  • 29 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010786 35
  • 47.54 (n)
  • 38.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG18472 35
  • 48.88 (n)
  • 38.02 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM70 36
  • 16 (a)
ManyToMany
TOM71 36
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.524 36
  • 30 (a)
OneToMany
Species with no ortholog for SPAG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPAG1 Gene

ENSEMBL:
Gene Tree for SPAG1 (if available)
TreeFam:
Gene Tree for SPAG1 (if available)

Paralogs for SPAG1 Gene

Paralogs for SPAG1 Gene

Selected SIMAP similar genes for SPAG1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SPAG1: view

Variants for SPAG1 Gene

Sequence variations from dbSNP and Humsavar for SPAG1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs6510 - 100,240,601(+) GTGCA(C/T)ATCTT reference, missense
rs6511 - 100,240,452(+) CTCCA(C/T)GGGAT missense, reference
rs474454 -- 100,205,929(-) cagtt(C/T)tcctg intron-variant
rs474666 -- 100,205,858(-) tttgt(A/T)ttttt intron-variant
rs477660 -- 100,204,289(+) cccta(A/G)aggtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPAG1 Gene

Variant ID Type Subtype PubMed ID
nsv6329 CNV Loss 18451855

Relevant External Links for SPAG1 Gene

HapMap Linkage Disequilibrium report
SPAG1
Human Gene Mutation Database (HGMD)
SPAG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPAG1 Gene

Disorders for SPAG1 Gene

(1) OMIM Diseases for SPAG1 Gene (603395)

UniProtKB/Swiss-Prot

SPAG1_HUMAN
  • Ciliary dyskinesia, primary, 28 (CILD28) [MIM:615505]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SPAG1 Gene

Relevant External Links for SPAG1

Genetic Association Database (GAD)
SPAG1
genes like me logo Genes that share disorders with SPAG1: view

Publications for SPAG1 Gene

  1. Sperm-associated antigen 1 is expressed early in pancreatic tumorigenesis and promotes motility of cancer cells. (PMID: 16983343) Neesse A. … Crnogorac-Jurcevic T. (Oncogene 2007) 3 4 23
  2. Isolation and sequencing of the cDNA encoding the 75-kD human sperm protein related to infertility. (PMID: 1299558) Zhang M.L. … Koide S.S. (Chin. Med. J. 1992) 3 4
  3. Expression and function of the HSD-3.8 gene encoding a testis- specific protein. (PMID: 11517287) Lin W. … Koide S.S. (Mol. Hum. Reprod. 2001) 3 4
  4. A sperm component, HSD-3.8 (SPAG1), interacts with G-protein beta 1 subunit and activates extracellular signal-regulated kinases (ERK). (PMID: 16368546) Liu N. … Wang L. (Front. Biosci. 2006) 2 3
  5. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. (PMID: 24055112) Knowles M.R. … Zariwala M.A. (Am. J. Hum. Genet. 2013) 3 4

Products for SPAG1 Gene

Sources for SPAG1 Gene

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