Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on... See more...

Aliases for SPAM1 Gene

Aliases for SPAM1 Gene

  • Sperm Adhesion Molecule 1 2 3 4 5
  • Sperm Adhesion Molecule 1 (PH-20 Hyaluronidase, Zona Pellucida Binding) 2 3
  • Hyaluronoglucosaminidase PH-20 3 4
  • Sperm Surface Protein PH-20 3 4
  • PH-20 Hyaluronidase 2 3
  • Hyaluronidase PH-20 3 4
  • Hyal-PH20 3 4
  • SPAG15 2 3
  • HYAL3 3 4
  • HYAL5 2 3
  • PH-20 2 3
  • PH20 3 4
  • Epididymis Secretory Sperm Binding Protein Li 96n 3
  • EC 3.2.1.35 4
  • HEL-S-96n 3
  • HYAL1 3
  • SPAM1 5
  • HYA1 3

External Ids for SPAM1 Gene

Previous GeneCards Identifiers for SPAM1 Gene

  • GC07P122043
  • GC07P123106
  • GC07P123119
  • GC07P123159
  • GC07P123352
  • GC07P123565
  • GC07P117928

Summaries for SPAM1 Gene

Entrez Gene Summary for SPAM1 Gene

  • Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for SPAM1 Gene

SPAM1 (Sperm Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with SPAM1 include Mucopolysaccharidosis, Type Ix and Aqueous Misdirection. Among its related pathways are Lysosome and Glycosaminoglycan degradation. Gene Ontology (GO) annotations related to this gene include hyalurononglucosaminidase activity. An important paralog of this gene is HYAL4.

UniProtKB/Swiss-Prot Summary for SPAM1 Gene

  • Involved in sperm-egg adhesion. Upon fertilization sperm must first penetrate a layer of cumulus cells that surrounds the egg before reaching the zona pellucida. The cumulus cells are embedded in a matrix containing hyaluronic acid which is formed prior to ovulation. This protein aids in penetrating the layer of cumulus cells by digesting hyaluronic acid.

Gene Wiki entry for SPAM1 Gene

Additional gene information for SPAM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPAM1 Gene

Genomics for SPAM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPAM1 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
GH07J123925 Promoter 0.5 EPDnew 600.7 +0.1 58 0.1 CREB1 ATF7 SPAM1 ENSG00000225583 lnc-HYAL4-2 TMEM229A
GH07J123926 Enhancer 0.3 Ensembl 600.7 +0.4 364 0.4 ATF7 SPAM1 ENSG00000225583 lnc-HYAL4-2 TMEM229A
GH07J123928 Enhancer 0.5 Ensembl ENCODE 0.7 +4.3 4289 2.5 RFX1 JUND RNU6-11P ENSG00000225583 SPAM1 lnc-HYAL4-2 TMEM229A
GH07J123915 Enhancer 0.6 Ensembl ENCODE 0.4 -9.4 -9358 1.6 CTCF RAD21 SMC3 ZNF654 HNF4A lnc-SPAM1-1 SPAM1 lnc-WASL-2 HYAL4
GH07J124031 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 0.1 +107.6 107582 2.2 PRDM10 REST ZNF692 PATZ1 CTCF ZNF501 EZH2 ZNF600 ZNF341 ZNF561 5MWI_A-166 ENSG00000242593 TMEM229A SPAM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPAM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPAM1

Top Transcription factor binding sites by QIAGEN in the SPAM1 gene promoter:
  • AML1a
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • NF-Y
  • NF-YA
  • NF-YB
  • p53

Genomic Locations for SPAM1 Gene

Genomic Locations for SPAM1 Gene
chr7:123,925,237-123,971,414
(GRCh38/hg38)
Size:
46,178 bases
Orientation:
Plus strand
chr7:123,565,286-123,611,468
(GRCh37/hg19)
Size:
46,183 bases
Orientation:
Plus strand

Genomic View for SPAM1 Gene

Genes around SPAM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPAM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPAM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPAM1 Gene

Proteins for SPAM1 Gene

  • Protein details for SPAM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38567-HYALP_HUMAN
    Recommended name:
    Hyaluronidase PH-20
    Protein Accession:
    P38567
    Secondary Accessions:
    • Q8TC30

    Protein attributes for SPAM1 Gene

    Size:
    509 amino acids
    Molecular mass:
    57848 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SPAM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPAM1 Gene

Post-translational modifications for SPAM1 Gene

  • N-glycosylated.
  • Glycosylation at Asn82, Asn166, Asn235, Asn254, Asn368, and Asn393
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for SPAM1

No data available for DME Specific Peptides for SPAM1 Gene

Domains & Families for SPAM1 Gene

Gene Families for SPAM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SPAM1 Gene

InterPro:
Blocks:
  • Glycosyl hydrolase family 56 signature
  • Sperm surface protein PH20 (hyaluronidase) signature
ProtoNet:

Suggested Antigen Peptide Sequences for SPAM1 Gene

GenScript: Design optimal peptide antigens:
  • Sperm surface protein PH-20 (HYALP_HUMAN)
  • cDNA FLJ76679, highly similar to Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 2, mRNA (Q5D1J4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P38567

UniProtKB/Swiss-Prot:

HYALP_HUMAN :
  • Belongs to the glycosyl hydrolase 56 family.
Family:
  • Belongs to the glycosyl hydrolase 56 family.
genes like me logo Genes that share domains with SPAM1: view

Function for SPAM1 Gene

Molecular function for SPAM1 Gene

UniProtKB/Swiss-Prot Function:
Involved in sperm-egg adhesion. Upon fertilization sperm must first penetrate a layer of cumulus cells that surrounds the egg before reaching the zona pellucida. The cumulus cells are embedded in a matrix containing hyaluronic acid which is formed prior to ovulation. This protein aids in penetrating the layer of cumulus cells by digesting hyaluronic acid.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.; EC=3.2.1.35;.
GENATLAS Biochemistry:
sperm adhesion molecule,possessing hyaluronidase activity,involved in sperm-egg interaction,homologous to guinea pig PH-20,paralog to HYAL1

Enzyme Numbers (IUBMB) for SPAM1 Gene

Phenotypes From GWAS Catalog for SPAM1 Gene

Gene Ontology (GO) - Molecular Function for SPAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004415 hyalurononglucosaminidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with SPAM1: view
genes like me logo Genes that share phenotypes with SPAM1: view

Animal Models for SPAM1 Gene

MGI Knock Outs for SPAM1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPAM1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPAM1 Gene

Localization for SPAM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPAM1 Gene

Cell membrane. Lipid-anchor, GPI-anchor.

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 SPAM1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
lysosome 2
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for SPAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with SPAM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPAM1 Gene

Pathways & Interactions for SPAM1 Gene

genes like me logo Genes that share pathways with SPAM1: view

Pathways by source for SPAM1 Gene

Interacting Proteins for SPAM1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 7)
STRING Interaction Network
Selected Interacting proteins: ENSP00000345849 P38567-HYALP_HUMAN for SPAM1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SPAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS,IEA --
GO:0007155 cell adhesion IEA --
GO:0007339 binding of sperm to zona pellucida TAS 8195297
GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with SPAM1: view

No data available for SIGNOR curated interactions for SPAM1 Gene

Drugs & Compounds for SPAM1 Gene

(5) Drugs for SPAM1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(5) Additional Compounds for SPAM1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylgalactosamine
  • 2-(acetylamino)-2-Deoxy-alpha-D-galactopyranose
  • alpha-GalNAc
  • alpha-GalpNAc
  • GalNAc-alpha
  • Tn
1811-31-0
N-Acetylgalactosamine 4-sulphate
  • 2-(acetylamino)-2-Deoxy-D-galactose 4-(hydrogen sulfate)
  • 2-(acetylamino)-2-Deoxy-D-galactose 4-(hydrogen sulphate)
  • GalNAc4S
  • N-Acetyl-D-galactosamine 4-sulfate
  • N-Acetyl-D-galactosamine 4-sulphate
45233-43-0
genes like me logo Genes that share compounds with SPAM1: view

Transcripts for SPAM1 Gene

mRNA/cDNA for SPAM1 Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPAM1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPAM1 Gene

No ASD Table

Relevant External Links for SPAM1 Gene

GeneLoc Exon Structure for
SPAM1

Expression for SPAM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPAM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPAM1 Gene

This gene is overexpressed in Testis (x49.9).

Protein differential expression in normal tissues from HIPED for SPAM1 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPAM1 Gene



Protein tissue co-expression partners for SPAM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPAM1

SOURCE GeneReport for Unigene cluster for SPAM1 Gene:

Hs.121494

mRNA Expression by UniProt/SwissProt for SPAM1 Gene:

P38567-HYALP_HUMAN
Tissue specificity: Testis.
genes like me logo Genes that share expression patterns with SPAM1: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPAM1 Gene

Orthologs for SPAM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPAM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPAM1 30 31
  • 99.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC509761 30
  • 78.18 (n)
-- 31
  • 63 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia SPAM1 30 31
  • 76.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hyal5 30 17 31
  • 72.88 (n)
OneToMany
Spam1 31
  • 54 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Hyal5 30
  • 71.81 (n)
Oppossum
(Monodelphis domestica)
Mammalia SPAM1 31
  • 54 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SPAM1 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SPAM1 30 31
  • 64.42 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 41 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486024 30
  • 58.11 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398285 30
Zebrafish
(Danio rerio)
Actinopterygii spam1 30 31
  • 49.87 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea T22C8.2 32
  • 33 (a)
chhy-1 31
  • 27 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for SPAM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for SPAM1 Gene

ENSEMBL:
Gene Tree for SPAM1 (if available)
TreeFam:
Gene Tree for SPAM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPAM1: view image

Paralogs for SPAM1 Gene

Paralogs for SPAM1 Gene

(4) SIMAP similar genes for SPAM1 Gene using alignment to 3 proteins:

  • HYALP_HUMAN
  • C9J2X5_HUMAN
  • Q5D1J4_HUMAN
genes like me logo Genes that share paralogs with SPAM1: view

Variants for SPAM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPAM1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs34633019 - p.Val47Ala
VAR_064756 - p.Lys5Gln

Additional dbSNP identifiers (rs#s) for SPAM1 Gene

Variation tolerance for SPAM1 Gene

Residual Variation Intolerance Score: 60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPAM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPAM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SPAM1 Gene

Disorders for SPAM1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SPAM1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SPAM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPAM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SPAM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPAM1 Gene

Publications for SPAM1 Gene

  1. Expression analysis, genomic structure, and mapping to 7q31 of the human sperm adhesion molecule gene SPAM1. (PMID: 8575780) Jones MH … Affara NA (Genomics 1995) 2 3 4 23
  2. The human sperm protein PH-20 has hyaluronidase activity. (PMID: 8282124) Gmachl M … Kreil G (FEBS letters 1993) 2 3 4 23
  3. Molecular cloning of the human and monkey sperm surface protein PH-20. (PMID: 8234258) Lin Y … Primakoff P (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 23
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41
  5. Transcription of the human and rodent SPAM1 / PH-20 genes initiates within an ancient endogenous retrovirus. (PMID: 15804358) Dunn CA … Mager DL (BMC genomics 2005) 3 23

Products for SPAM1 Gene

  • Signalway Proteins for SPAM1

Sources for SPAM1 Gene