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

    Gene ID: 124912, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See SPACA3 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32991847..32997877)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33937912..33943948)
    RS_2024_09 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 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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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