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Aliases for SPAG1 Gene

Aliases for SPAG1 Gene

  • Sperm Associated Antigen 1 2 3 5
  • Infertility-Related Sperm Protein Spag-1 3 4
  • HSD-3.8 3 4
  • TPR-Containing Protein Involved In Spermatogenesis 3
  • Tetratricopeptide Repeat-Containing Protein 3
  • Epididymis Secretory Protein Li 268 3
  • HEL-S-268 3
  • CILD28 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 STIP1.

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

Enhancers for SPAG1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SPAG1 on UCSC Golden Path with GeneCards custom track

Promoters for SPAG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPAG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPAG1 Gene

Chromosome:
8
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

Genes around SPAG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPAG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for SPAG1 Gene

Gene Families for SPAG1 Gene

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 :
  • Contains 9 TPR repeats.
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.
genes like me logo Genes that share phenotypes with SPAG1: view

Human Phenotype Ontology for SPAG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for SPAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16983343
genes like me logo Genes that share ontologies with SPAG1: view

Pathways & Interactions 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:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with SPAG1: view

No data available for Pathways by source and SIGNOR curated interactions for SPAG1 Gene

Drugs & Compounds for SPAG1 Gene

(1) Drugs for SPAG1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
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:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPAG1 Gene

This gene is overexpressed in Testis (24.1), Breast (18.1), Heart (9.6), and Adipocyte (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SPAG1: view

Protein tissue co-expression partners for SPAG1 Gene

Primer Products

No data available for 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
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
chimpanzee
(Pan troglodytes)
Mammalia SPAG1 35
  • 98.63 (n)
  • 98.38 (a)
SPAG1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spag1 35
  • 75.73 (n)
  • 71.1 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
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
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1631 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4427 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

(1) 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
rs17335870 - 100,194,163(+) CATCT(A/G)AGACT reference, missense
VAR_054325 -
VAR_054326 -
rs2088199 -- 100,214,796(-) CATCA(A/T)GTTGG intron-variant
rs2132349 -- 100,168,020(-) caatt(C/T)catac intron-variant

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

Variant ID Type Subtype PubMed ID
nsv6329 CNV Loss 18451855

Variation tolerance for SPAG1 Gene

Residual Variation Intolerance Score: 74.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.12; 80.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPAG1 Gene

Human Gene Mutation Database (HGMD)
SPAG1

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

Disorders for SPAG1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SPAG1 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 28
  • primary ciliary dyskinesia 28 with or without situs inversus
kcnt1-related nocturnal frontal lobe epilepsy, autosomal dominant
  • enfl5
epilepsy, nocturnal frontal lobe, 5
  • enfl5
bronchiectasis
  • kartagener syndrome
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SPAG1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SPAG1

Genetic Association Database (GAD)
SPAG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPAG1
genes like me logo Genes that share disorders with SPAG1: view

No data available for Genatlas for SPAG1 Gene

Publications for SPAG1 Gene

  1. 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) 2 3 4 67
  2. 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 23
  3. 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
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for SPAG1 Gene

Sources for SPAG1 Gene

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