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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
  • Sperm-Associated Antigen 1 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 Primary Ciliary Dyskinesia28: Spag1-Related Primary Ciliary Dyskinesia. GO annotations related to this gene include GTP binding and hydrolase activity. An important paralog of this gene is RPAP3.

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 CIViC summary , 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 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
GH08G100296 1.6 Ensembl ENCODE dbSUPER 26.3 +146.2 146196 15.7 HDGF PKNOX1 MLX AGO1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YBX1 RNF19A SPAG1 ENSG00000253217 ENSG00000202310 ENSG00000253666 PIR38264
GH08G100212 1 ENCODE 39.6 +55.6 55579 2.1 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 FOS SP3 SMARCB1 KAT8 ZNF579 SPAG1 ENSG00000202310 ENSG00000253666 RGS22 ANKRD46 LOC105375669 ENSG00000199667
GH08G100487 2 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +337.5 337467 16.6 HDGF PKNOX1 FOXA2 MLX WRNIP1 ARID4B SIN3A YBX1 ZBTB7B YY1 RNF19A SPAG1 ENSG00000202310 ANKRD46 ENSG00000253217 ENSG00000261087 RGS22 ENSG00000254364 YWHAZ GC08M100535
GH08G100313 1.4 Ensembl ENCODE dbSUPER 23.3 +156.2 156167 2.1 HDAC1 HDGF PKNOX1 ATF1 ZFP64 SIN3A ZBTB40 RAD21 RELB IKZF2 SPAG1 RNF19A ENSG00000253217 ENSG00000253666 ENSG00000202310 PIR38264
GH08G100143 1.2 Ensembl ENCODE 22.9 -13.6 -13627 1.0 PKNOX1 ARNT ARID4B SIN3A ZNF2 TCF12 GTF3C2 GATA2 ZNF143 ZNF207 SPAG1 PABPC1 GAPDHP62 FBXO43 RGS22
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000227895 294 1200 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 GLI4 ZNF2 ZNF48 ZNF121

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

Post-translational modifications for SPAG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPAG1 Gene

Domains & Families for SPAG1 Gene

Gene Families for SPAG1 Gene

Suggested Antigen Peptide Sequences for SPAG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for SPAG1 Gene

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:0005525 GTP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with SPAG1: view
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

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
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 SPAG1 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for SPAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 16983343
GO:0005829 cytosol IDA --
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:0007338 single fertilization TAS,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 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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SPAG1 Gene



Protein tissue co-expression partners for SPAG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPAG1 Gene:

SPAG1

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.

Evidence on tissue expression from TISSUES for SPAG1 Gene

  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPAG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with SPAG1: view

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
chimpanzee
(Pan troglodytes)
Mammalia SPAG1 34 35
  • 98.63 (n)
cow
(Bos Taurus)
Mammalia SPAG1 34 35
  • 84.42 (n)
dog
(Canis familiaris)
Mammalia SPAG1 34 35
  • 82.96 (n)
mouse
(Mus musculus)
Mammalia Spag1 34 16 35
  • 77.03 (n)
rat
(Rattus norvegicus)
Mammalia Spag1 34
  • 75.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves SPAG1 35 34
  • 64.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPAG1 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1631 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4427 34
zebrafish
(Danio rerio)
Actinopterygii spag1a 35 34
  • 62.77 (n)
OneToMany
spag1b 35 35
  • 28 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG18472 34
  • 48.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010786 34
  • 47.54 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM70 35
  • 16 (a)
ManyToMany
TOM71 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.524 35
  • 30 (a)
OneToMany
Species where no ortholog for SPAG1 was found in the sources mined by GeneCards:
  • 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
rs201740530 Pathogenic 100,233,436(+) TGTGC(C/T)AGTTT intron-variant, nc-transcript-variant, reference, stop-gained
rs397518458 Pathogenic 100,162,282(+) AGCTA(G/T)GACCA intron-variant, nc-transcript-variant, reference, missense
rs397518459 Pathogenic 100,184,711(+) ATGAA(G/T)AAGCA nc-transcript-variant, reference, stop-gained
rs797045149 Pathogenic 100,191,459(+) GAGTA(-/AAGTA)CTAGA nc-transcript-variant, reference, frameshift-variant
rs886037653 Pathogenic 100,240,664(+) AAGGG(-/G)ATACA intron-variant, nc-transcript-variant, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv3618186 CNV loss 21293372
nsv611814 CNV loss 21841781
nsv6329 CNV deletion 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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
primary ciliary dyskinesia28: spag1-related primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 28
kcnt1-related nocturnal frontal lobe epilepsy, autosomal dominant
  • epilepsy, nocturnal frontal lobe, 5
epilepsy, nocturnal frontal lobe, 5
  • autosomal dominant nocturnal frontal lobe epilepsy 5
kartagener syndrome
  • kartagener's 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. {ECO:0000269 PubMed:24055112}. 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 64
  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 4 22 64
  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 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SPAG1 Gene

Sources for SPAG1 Gene

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