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

Gene ID: 6677, updated on 10-Dec-2024

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
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Genomic context

See SPAM1 in Genome Data Viewer
Location:
7q31.32
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (123925241..123971414)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (125241959..125288129)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (123565295..123611468)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene hyaluronidase 4 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:123438019-123438540 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:123438541-123439062 Neighboring gene RNA, U6 small nuclear 11, pseudogene Neighboring gene hyaluronidase 6, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:123534015-123535214 Neighboring gene COX6A1 pseudogene 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:123634231-123635109 Neighboring gene uncharacterized LOC105375483 Neighboring gene transmembrane protein 229A

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC26532

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

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
NP_001167516.1
NP_001167517.1
NP_003108.2
NP_694859.1

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)

  1. NM_001174044.2NP_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:42369
    Glyco_hydro_56; Hyaluronidase
  2. NM_001174045.2NP_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:42369
    Glyco_hydro_56; Hyaluronidase
  3. NM_001174046.2NP_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:42369
    Glyco_hydro_56; Hyaluronidase
  4. NM_003117.5NP_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:42369
    Glyco_hydro_56; Hyaluronidase
  5. NM_153189.3NP_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:42369
    Glyco_hydro_56; Hyaluronidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    123925241..123971414
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    125241959..125288129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)