ACR acrosin [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACRprovided by HGNC
Official Full Name: acrosinprovided by HGNC
Primary source: HGNC:HGNC:126
See related: Ensembl:ENSG00000100312 MIM:102480; AllianceGenome:HGNC:126
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: SPGF87
Summary: Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 44.8) See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.33

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (50738204..50745339)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (51251783..51258912)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (51176632..51183767)

Chromosome 22 - NC_000022.11 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 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.
Study revealed significantly higher acrosin activity and a lower DNA fragmentation index in subjects with moderate or high mitochondrial membrane potential (MMP) compared to those with low MMP.
Title: Mitochondrial functionality modifies human sperm acrosin activity, acrosome reaction capability and chromatin integrity.
Data indicate that the positive expression of studied genes fertilization rate for GAPDHS positive subset was 66%, ACR - 71%, SPATA22 - 68%, MND1 - 70%, pregnancy rates were 8%, 6%, 18% and 36% respectively.
Title: Expression analysis of MND1/GAJ, SPATA22, GAPDHS and ACR genes in testicular biopsies from non-obstructive azoospermia (NOA) patients.
Sperm DNA damage is closely related with sperm-nucleoprotein transition, acrosin activity and seminal parameters.
Title: [Sperm DNA damage and sperm-nucleoprotein transition correlate to acrosin activity and seminal parameters].
DNA immunization against proacrosin impairs fertility in male mice.
Title: DNA immunization against proacrosin impairs fertility in male mice.
Binding sites for recombinant human zona pellucida (ZP) glycoproteins located at the N- and C-termini of proacrosin reveal a key role of the proenzyme in the interaction.
Title: Binding of recombinant human proacrosin/acrosin to zona pellucida (ZP) glycoproteins. I. Studies with recombinant human ZPA, ZPB, and ZPC.

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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

Associated conditions

Description	Tests
Spermatogenic failure 87 MedGen: C5882687 OMIM: 620500 GeneReviews: Not available	not available

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

RH69180 (e-PCR)
- UniSTS:60826

RH38881 (e-PCR)
- UniSTS:92611

GDB:190905 (e-PCR)
- UniSTS:155630

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-mannose binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables amidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables copper ion binding	NAS Non-traceable Author Statement more info	PubMed
enables fucose binding	ISS Inferred from Sequence or Structural Similarity more info
enables protease binding	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type peptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in acrosome matrix dispersal	NAS Non-traceable Author Statement more info	PubMed
involved_in acrosome reaction	IBA Inferred from Biological aspect of Ancestor more info
involved_in acrosome reaction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in acrosome reaction	TAS Traceable Author Statement more info
involved_in activation of adenylate cyclase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in binding of sperm to zona pellucida	IEA Inferred from Electronic Annotation more info
involved_in penetration of zona pellucida	IEA Inferred from Electronic Annotation more info
involved_in response to steroid hormone	IEA Inferred from Electronic Annotation more info
involved_in single fertilization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi-associated vesicle	IEA Inferred from Electronic Annotation more info
located_in acrosomal matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: acrosin

Names: acrosin light and heavy chain prepropeptide; preproacrosin; proacrosin

NP_001088.2

EC 3.4.21.10

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_001097.3 → NP_001088.2 acrosin precursor

See identical proteins and their annotated locations for NP_001088.2

Status: REVIEWED

Source sequence(s)

AC000036, AC002056, CR456366, DB054152, Y00970

Consensus CDS

CCDS14101.1

UniProtKB/Swiss-Prot

P10323, Q6ICK2

Related

ENSP00000216139.5, ENST00000216139.10

Conserved Domains (2) summary

smart00020
Location:42 → 285

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:43 → 288

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...