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SPACA3 sperm acrosome associated 3 [ Homo sapiens (human) ]

Gene ID: 124912, updated on 5-Mar-2024

Summary

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Official Symbol
SPACA3provided by HGNC
Official Full Name
sperm acrosome associated 3provided by HGNC
Primary source
HGNC:HGNC:16260
See related
Ensembl:ENSG00000141316 MIM:612749; AllianceGenome:HGNC:16260
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
CT54; LYC3; LYZC; LYZL3; SLLP1; ALLP17
Summary
The protein encoded by this gene is a sperm surface protein that may be involved in adhesion to the egg prior to fertilization. While the encoded protein has significant similarity to lysozyme at the amino acid level, it has no detectable bacteriocidal activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Expression
Restricted expression toward testis (RPKM 20.0) See more
Orthologs
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Genomic context

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Location:
17q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32991847..32997877)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33937912..33943948)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (31318865..31324895)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr17.1747 Neighboring gene Sharpr-MPRA regulatory region 12135 Neighboring gene CRISPRi-validated MYO1D hub enhancer Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:31244864-31245495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31262798-31263448 Neighboring gene Sharpr-MPRA regulatory region 812 Neighboring gene MYO1D divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr17:31329363-31329898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31341295-31341796 Neighboring gene H2B.N variant histone 1 Neighboring gene transmembrane protein 98 Neighboring gene uncharacterized LOC105371737 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:31439262-31440461 Neighboring gene acid sensing ion channel subunit 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:31519773-31520284 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:31520285-31520795 Neighboring gene uncharacterized LOC124903985

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Cancer-testis antigen SLLP1 represents a promising target for the immunotherapy of multiple myeloma. Yousef S, et al. J Transl Med, 2015 Jun 20. PMID 26088750, Free PMC Article
  2. SPACA3 gene variants in a New Zealand cohort of infertile and fertile couples. Prendergast D, et al. Hum Fertil (Camb), 2014 Jun. PMID 24872021
  3. The spermatozoa protein, SLLP1, is a novel cancer-testis antigen in hematologic malignancies. Wang Z, et al. Clin Cancer Res, 2004 Oct 1. PMID 15475442
  4. The role of SPRASA in female fertility. Wagner A, et al. Reprod Sci, 2015 Apr. PMID 25038051, Free PMC Article
  5. SLLP1, a unique, intra-acrosomal, non-bacteriolytic, c lysozyme-like protein of human spermatozoa. Mandal A, et al. Biol Reprod, 2003 May. PMID 12606493

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The levels of antibodies reactive with SPRASA were elevated in infertile women.
    Title: The role of SPRASA in female fertility.
  2. SLLP1 represents a promising target for the immunotherapy of multiple myeloma.
    Title: Cancer-testis antigen SLLP1 represents a promising target for the immunotherapy of multiple myeloma.
  3. Authors present evidence that the variants could affect the expression levels or function of SPRASA, thereby affecting a couple's fertility.
    Title: SPACA3 gene variants in a New Zealand cohort of infertile and fertile couples.
  4. SLLP1 is capable of eliciting B-cell immune responses in vivo in cancer-bearing individuals.
    Title: The spermatozoa protein, SLLP1, is a novel cancer-testis antigen in hematologic malignancies.
  5. SLLP1 could be a potential receptor for the egg oligosaccharide residue N-acetylglucosamine, which is present in the extracellular matrix over the egg plasma membrane
    Title: SLLP1, a unique, intra-acrosomal, non-bacteriolytic, c lysozyme-like protein of human spermatozoa.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC119058

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables lysozyme activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in fusion of sperm to egg plasma membrane involved in single fertilization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fusion of sperm to egg plasma membrane involved in single fertilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in monocyte activation TAS
Traceable Author Statement
more info
  
involved_in positive regulation of macrophage activation TAS
Traceable Author Statement
more info
  
involved_in positive regulation of phagocytosis TAS
Traceable Author Statement
more info
  
involved_in sperm-egg recognition IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in acrosomal matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in acrosomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in acrosomal vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in secretory granule IDA
Inferred from Direct Assay
more info
  
is_active_in sperm flagellum IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
sperm acrosome membrane-associated protein 3
Names
cancer/testis antigen 54
lysozyme C
lysozyme-like acrosomal sperm-specific secretory protein ALLP-17
lysozyme-like protein 3
lysozyme-like sperm-specific secretory protein ALLP17
sperm lysozyme-like protein 1
sperm lyzozyme-like acrosomal protein 1
sperm protein reactive with ASA
sperm protein reactive with antisperm antibodies

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_001317225.2 → NP_001304154.1  sperm acrosome membrane-associated protein 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    BC029867
    UniProtKB/TrEMBL
    E9PBS7, Q05C28
    Related
    ENST00000394637.2
    Conserved Domains (1) summary
    cd00119
    Location:24 → 119
    LYZ1; C-type lysozyme (1, 4-beta-N-acetylmuramidase, LYZ) and alpha-lactalbumin (lactose synthase B protein, LA). They have a close evolutionary relationship and similar tertiary structure, however, functionally they are quite different. Lysozymes have ...

  2. NM_001317226.2 → NP_001304155.1  sperm acrosome membrane-associated protein 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC003687, AF216311, BF511575, BQ438507
    Consensus CDS
    CCDS82105.1
    UniProtKB/TrEMBL
    E9PF91
    Related
    ENSP00000378134.1, ENST00000394638.1
    Conserved Domains (1) summary
    cd00119
    Location:13 → 108
    LYZ1; C-type lysozyme (1, 4-beta-N-acetylmuramidase, LYZ) and alpha-lactalbumin (lactose synthase B protein, LA). They have a close evolutionary relationship and similar tertiary structure, however, functionally they are quite different. Lysozymes have ...

  3. NM_173847.5 → NP_776246.1  sperm acrosome membrane-associated protein 3 isoform 1

    See identical proteins and their annotated locations for NP_776246.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC003687, AF216311, BF511575
    Consensus CDS
    CCDS11275.1
    UniProtKB/Swiss-Prot
    Q7Z4Y5, Q8IXA5
    UniProtKB/TrEMBL
    A0A080YUZ7
    Related
    ENSP00000269053.3, ENST00000269053.8
    Conserved Domains (1) summary
    cd16897
    Location:88 → 213
    LYZ_C; C-type lysozyme

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    32991847..32997877
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    33937912..33943948
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IXA5.1 GenPept UniProtKB/Swiss-Prot:Q8IXA5

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