SPAM1 sperm adhesion molecule 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPAM1provided by HGNC
Official Full Name: sperm adhesion molecule 1provided by HGNC
Primary source: HGNC:HGNC:11217
See related: Ensembl:ENSG00000106304 MIM:600930; AllianceGenome:HGNC:11217
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HYA1; PH20; HYAL1; HYAL3; HYAL5; PH-20; SPAG15; HEL-S-96n
Summary: 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]
Expression: Restricted expression toward testis (RPKM 5.9) See more
Orthologs: all
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Genomic context

Location:: 7q31.32

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (123925241..123971414)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (125241959..125288129)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (123565295..123611468)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Low acrosin activity is associated with decreased Spam1/acrosin expression and GSH deficiency-caused premature acrosome release of human sperm cells.
Title: Low acrosin activity is associated with decreased Spam1/acrosin expression and GSH deficiency-caused premature acrosome release of human sperm cells.
N-Glycosylation and enzymatic activity of the rHuPH20 expressed in Chinese hamster ovary cells.
Title: N-Glycosylation and enzymatic activity of the rHuPH20 expressed in Chinese hamster ovary cells.
Human Hyaluronidase PH20 Potentiates the Antitumor Activities of Mesothelin-Specific CAR-T Cells Against Gastric Cancer.
Title: Human Hyaluronidase PH20 Potentiates the Antitumor Activities of Mesothelin-Specific CAR-T Cells Against Gastric Cancer.
Human posterior head 20 (hPH20) and homo sapiens sperm acrosome associated 1 (hSPACA1) immunocontraceptive epitopes reduced fertility in male/female mice.
Title: Discovery of human posterior head 20 (hPH20) and homo sapiens sperm acrosome associated 1 (hSPACA1) immunocontraceptive epitopes and their effects on fertility in male and female mice.
results indicate that neither rHuPH20 nor its directly generated HA catabolites have inflammatory properties in the air pouch model, and rHuPH20 can instead inhibit some aspects of inflammation, such as neutrophil infiltration into the air pouch.
Title: Recombinant human hyaluronidase PH20 does not stimulate an acute inflammatory response and inhibits lipopolysaccharide-induced neutrophil recruitment in the air pouch model of inflammation.
HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition, such as arylsulfatase A and SPAM1.
Title: Investigation of the mechanisms by which the molecular chaperone HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition.
The interaction between SPAM1, ARSA and HSPA2 in a multimeric complex mediating sperm-egg interaction.
Title: The molecular chaperone HSPA2 plays a key role in regulating the expression of sperm surface receptors that mediate sperm-egg recognition.
PH20 is elevated in demyelinating lesions and that increased PH20 expression is sufficient to inhibit oligodendrocyte precursor cell maturation and remyelination.
Title: Digestion products of the PH20 hyaluronidase inhibit remyelination.
Observational study of gene-disease association. (HuGE Navigator)
Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
SPAM1 mRNA & protein occur in all 3 regions of epididymis & vas deferens. It has hyaluronidase activity at pH 7.0. The proximal promoter has epididymal transcription factor sites including androgen receptor elements. Its role may be in sperm maturation.
Title: SPAM1 (PH-20) protein and mRNA expression in the epididymides of humans and macaques: utilizing laser microdissection/RT-PCR.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66806 (e-PCR)
- UniSTS:33035

D7S1432 (e-PCR)
- UniSTS:39694

STS-S67798 (e-PCR)
- UniSTS:23323

SPAM1 (e-PCR)
- UniSTS:76590

D7S2893 (e-PCR)
- UniSTS:78577

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hyalurononglucosaminidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in binding of sperm to zona pellucida	TAS Traceable Author Statement more info	PubMed
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	IEA Inferred from Electronic Annotation more info
involved_in hyaluronan catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in acrosomal vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: hyaluronidase PH-20

Names: PH-20 hyaluronidase; epididymis secretory sperm binding protein Li 96n; hyal-PH20; hyaluronoglucosaminidase PH-20; sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding); sperm surface protein PH-20

NP_001167515.1

EC 3.2.1.35

NP_001167516.1

EC 3.2.1.35

NP_001167517.1

EC 3.2.1.35

NP_003108.2

EC 3.2.1.35

NP_694859.1

EC 3.2.1.35

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001174044.2 → NP_001167515.1 hyaluronidase PH-20 isoform 2

See identical proteins and their annotated locations for NP_001167515.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice pattern in the 3' coding region and 3' UTR, compared to variant 1, resulting in a shorter and distinct C-terminus (isoform 2). Variants 2-5 all encode the same isoform.

Source sequence(s)

AY920278, X84347

Consensus CDS

CCDS5791.1

UniProtKB/Swiss-Prot

P38567, Q8TC30

UniProtKB/TrEMBL

Q5D1J4

Related

ENSP00000417934.1, ENST00000460182.5

Conserved Domains (1) summary

pfam01630
Location:42 → 369

Glyco_hydro_56; Hyaluronidase
NM_001174045.2 → NP_001167516.1 hyaluronidase PH-20 isoform 2

See identical proteins and their annotated locations for NP_001167516.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice pattern in the 3' coding region and 3' UTR, compared to variant 1, resulting in a shorter and distinct C-terminus (isoform 2). Variants 2-5 all encode the same isoform.

Source sequence(s)

AK292229, AY920280, X84347

Consensus CDS

CCDS5791.1

UniProtKB/Swiss-Prot

P38567, Q8TC30

UniProtKB/TrEMBL

Q5D1J4

Related

ENSP00000402123.1, ENST00000439500.5

Conserved Domains (1) summary

pfam01630
Location:42 → 369

Glyco_hydro_56; Hyaluronidase
NM_001174046.2 → NP_001167517.1 hyaluronidase PH-20 isoform 2

See identical proteins and their annotated locations for NP_001167517.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate splice pattern in the 3' coding region and 3' UTR, compared to variant 1, resulting in a shorter and distinct C-terminus (isoform 2). Variants 2-5 all encode the same isoform.

Source sequence(s)

AK292229, AY920281, X84347

Consensus CDS

CCDS5791.1

UniProtKB/Swiss-Prot

P38567, Q8TC30

UniProtKB/TrEMBL

Q5D1J4

Conserved Domains (1) summary

pfam01630
Location:42 → 369

Glyco_hydro_56; Hyaluronidase
NM_003117.5 → NP_003108.2 hyaluronidase PH-20 isoform 1

See identical proteins and their annotated locations for NP_003108.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC004690, AK292229, AY920279, BC026163

Consensus CDS

CCDS5790.1

UniProtKB/Swiss-Prot

P38567

UniProtKB/TrEMBL

Q5D1J4

Related

ENSP00000345849.5, ENST00000340011.9

Conserved Domains (1) summary

pfam01630
Location:42 → 369

Glyco_hydro_56; Hyaluronidase
NM_153189.3 → NP_694859.1 hyaluronidase PH-20 isoform 2

See identical proteins and their annotated locations for NP_694859.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region and 3' UTR, compared to variant 1, resulting in a shorter and distinct C-terminus (isoform 2). Variants 2-5 all encode the same isoform.

Source sequence(s)

AY920279, X84347

Consensus CDS

CCDS5791.1

UniProtKB/Swiss-Prot

P38567, Q8TC30

UniProtKB/TrEMBL

Q5D1J4

Related

ENSP00000508393.1, ENST00000682466.1

Conserved Domains (1) summary

pfam01630
Location:42 → 369

Glyco_hydro_56; Hyaluronidase