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

Summary

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

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_000017.11 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?

The levels of antibodies reactive with SPRASA were elevated in infertile women.
Title: The role of SPRASA in female fertility.
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.
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.
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.
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.

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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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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)

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 ...
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 ...
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