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 f... See more...

Aliases for ACR Gene

Aliases for ACR Gene

  • Acrosin 2 3 4 5
  • Acrosin Light And Heavy Chain Prepropeptide 2 3
  • Preproacrosin 2 3
  • EC 3.4.21.10 4 50
  • Proacrosin 3
  • EC 3.4.21 50
  • ACRS 4
  • ACR 5

External Ids for ACR Gene

Previous GeneCards Identifiers for ACR Gene

  • GC22P047680
  • GC22P049309
  • GC22P049466
  • GC22P051176
  • GC22P034069

Summaries for ACR Gene

Entrez Gene Summary for ACR Gene

  • 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]

GeneCards Summary for ACR Gene

ACR (Acrosin) is a Protein Coding gene. Diseases associated with ACR include Varicocele and Chronic Congestive Splenomegaly. Among its related pathways are Reproduction. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and drug binding.

UniProtKB/Swiss-Prot Summary for ACR Gene

  • Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome.

Gene Wiki entry for ACR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACR Gene

Genomics for ACR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J050738 Promoter 0.3 EPDnew 250.7 0.0 -11 0.1 ACR LOC105373100 piR-50444-300 SHANK3
GH22J050670 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.8 -63.9 -63892 7.4 ZNF600 ZNF10 FEZF1 ZNF341 ZFP64 KLF7 ELF1 ZNF521 CTBP1 KLF9 SHANK3 HSALNG0136319 BRD1 CPT1B ZBED4 ENSG00000272836 ENSG00000273137 LMF2 NCAPH2 TUBGCP6
GH22J050732 Enhancer 1.1 Ensembl ENCODE dbSUPER 8.7 -5.3 -5295 3 ZNF654 ZNF600 MYC ZNF223 ZIC2 REST BHLHE40 MNT CTCF MAX RNU6-409P SHANK3 SYCE3 ACR HSALNG0136330 piR-50444-300
GH22J050269 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.2 -467.5 -467495 3 EZH2 ZIC2 ZBTB10 MXD4 NONO REST KLF11 SIN3A ZNF341 MNT MAPK11 HSALNG0136275 lnc-MAPK11-1 DENND6B ENSG00000273253 MAPK8IP2 MAPK12 PPP6R2 SELENOO SHANK3
GH22J050717 Enhancer 0.3 dbSUPER 5 -19.9 -19878 1.6 RAD21 CTCF SYCE3 RPL23AP82 RABL2B ACR HSALNG0136329 HSALNG0136323 SHANK3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACR

Top Transcription factor binding sites by QIAGEN in the ACR gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • ITF-2
  • Tal-1beta

Genomic Locations for ACR Gene

Latest Assembly
chr22:50,738,196-50,745,339
(GRCh38/hg38)
Size:
7,144 bases
Orientation:
Plus strand

Previous Assembly
chr22:51,176,632-51,183,767
(GRCh37/hg19 by Entrez Gene)
Size:
7,136 bases
Orientation:
Plus strand

chr22:51,176,624-51,183,762
(GRCh37/hg19 by Ensembl)
Size:
7,139 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr22(PATCHES):74,321-81,450 (+)

Genomic View for ACR Gene

Genes around ACR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACR Gene

Proteins for ACR Gene

  • Protein details for ACR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10323-ACRO_HUMAN
    Recommended name:
    Acrosin
    Protein Accession:
    P10323
    Secondary Accessions:
    • Q6ICK2

    Protein attributes for ACR Gene

    Size:
    421 amino acids
    Molecular mass:
    45847 Da
    Quaternary structure:
    • Heavy chain (catalytic) and a light chain linked by two disulfide bonds. Forms a heterodimer with SERPINA5.

neXtProt entry for ACR Gene

Selected DME Specific Peptides for ACR Gene

P10323:
  • GKIDTCQGDSGGPLMC
  • VLTAAHC
  • GDSGGPL
  • LCNSTQWYNGR
  • GITSWGVGCARAKRPG
  • CQGDSGGP
  • LTAAHCF
  • WVLTAAH
  • WIASKIG
  • VGITSWG

Post-translational modifications for ACR Gene

  • Glycosylation at Asn22 and Asn210

Other Protein References for ACR Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACR Gene

Gene Families for ACR Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for ACR Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature

Suggested Antigen Peptide Sequences for ACR Gene

GenScript: Design optimal peptide antigens:
  • Acrosin (ACRO_HUMAN)
  • Proacrosin protein (Q6LDE2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10323

UniProtKB/Swiss-Prot:

ACRO_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with ACR: view

Function for ACR Gene

Molecular function for ACR Gene

UniProtKB/Swiss-Prot Function:
Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.; EC=3.4.21.10;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPINA5.
GENATLAS Biochemistry:
acrosin

Enzyme Numbers (IUBMB) for ACR Gene

Phenotypes From GWAS Catalog for ACR Gene

Gene Ontology (GO) - Molecular Function for ACR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding TAS --
GO:0003677 DNA binding NAS 1937464
GO:0004040 amidase activity ISS --
GO:0004252 serine-type endopeptidase activity IEA,IDA 6802470
GO:0005507 copper ion binding NAS 6815104
genes like me logo Genes that share ontologies with ACR: view
genes like me logo Genes that share phenotypes with ACR: view

Animal Models for ACR Gene

MGI Knock Outs for ACR:
  • Acr Acr<tm1Wen>
  • Acr Acr<tm1Tba>

miRNA for ACR Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACR

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACR Gene

Localization for ACR Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACR gene
Compartment Confidence
extracellular 5
nucleus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ACR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005576 extracellular region TAS --
GO:0005634 nucleus HDA 21630459
GO:0005798 Golgi-associated vesicle IEA --
GO:0032991 protein-containing complex IDA 7521127
genes like me logo Genes that share ontologies with ACR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ACR Gene

Pathways & Interactions for ACR Gene

PathCards logo

SuperPathways for ACR Gene

SuperPathway Contained pathways
1 Reproduction
genes like me logo Genes that share pathways with ACR: view

Pathways by source for ACR Gene

3 Reactome pathways for ACR Gene

Gene Ontology (GO) - Biological Process for ACR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002077 acrosome matrix dispersal NAS 10418103
GO:0006508 proteolysis IEA --
GO:0007190 activation of adenylate cyclase activity IDA 3880736
GO:0007338 single fertilization IEA,ISS --
GO:0007339 binding of sperm to zona pellucida IEA --
genes like me logo Genes that share ontologies with ACR: view

No data available for SIGNOR curated interactions for ACR Gene

Drugs & Compounds for ACR Gene

(40) Drugs for ACR Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fludarabine Approved Pharma DNA synthsis inhibitor 1633,1633
Abatacept Approved Pharma 267
Apremilast Approved, Investigational Pharma 129
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3864
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1884

(10) Additional Compounds for ACR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ACR: view

Transcripts for ACR Gene

mRNA/cDNA for ACR Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACR

Alternative Splicing Database (ASD) splice patterns (SP) for ACR Gene

No ASD Table

Relevant External Links for ACR Gene

GeneLoc Exon Structure for
ACR

Expression for ACR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACR Gene

This gene is overexpressed in Testis (x34.4).

Protein differential expression in normal tissues from HIPED for ACR Gene

This gene is overexpressed in Testis (55.2) and Ovary (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACR Gene



Protein tissue co-expression partners for ACR Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACR

SOURCE GeneReport for Unigene cluster for ACR Gene:

Hs.370870

Evidence on tissue expression from TISSUES for ACR Gene

  • Blood(4.3)
genes like me logo Genes that share expression patterns with ACR: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACR Gene

Orthologs for ACR Gene

This gene was present in the common ancestor of animals.

Orthologs for ACR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACR 29 30
  • 90.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACR 29 30
  • 79.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACR 29 30
  • 76.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acr 29
  • 74.81 (n)
Mouse
(Mus musculus)
Mammalia Acr 29 16 30
  • 74.15 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACR 30
  • 35 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC769176 29
  • 55.32 (n)
-- 30
  • 41 (a)
OneToMany
-- 30
  • 37 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 35 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101732614 29
  • 58.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii tmprss12 30
  • 35 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG11836 30
  • 32 (a)
ManyToMany
CG6865 30
  • 29 (a)
ManyToMany
CG3355 30
  • 27 (a)
ManyToMany
CG11843 30
  • 26 (a)
ManyToMany
CG9294 30
  • 25 (a)
ManyToMany
CG4914 30
  • 25 (a)
ManyToMany
CG4613 30
  • 24 (a)
ManyToMany
CG11842 30
  • 24 (a)
ManyToMany
CG11841 30
  • 24 (a)
ManyToMany
CG18735 30
  • 23 (a)
ManyToMany
CG9372 30
  • 23 (a)
ManyToMany
CG4386 30
  • 22 (a)
ManyToMany
CG3700 30
  • 21 (a)
ManyToMany
CG4927 30
  • 21 (a)
ManyToMany
psh 30
  • 21 (a)
ManyToMany
spirit 30
  • 20 (a)
ManyToMany
CG14892 30
  • 19 (a)
ManyToMany
snk 30
  • 19 (a)
ManyToMany
CG11668 30
  • 18 (a)
ManyToMany
CG11670 30
  • 17 (a)
ManyToMany
CG14642 30
  • 17 (a)
ManyToMany
CG1299 30
  • 16 (a)
ManyToMany
CG32260 30
  • 15 (a)
ManyToMany
CG8172 30
  • 14 (a)
ManyToMany
CG6361 30
  • 13 (a)
ManyToMany
CG31728 30
  • 13 (a)
ManyToMany
Sb 30
  • 11 (a)
ManyToMany
CG7432 30
  • 11 (a)
ManyToMany
CG34350 30
  • 9 (a)
ManyToMany
CG8213 30
  • 5 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 31 (a)
ManyToMany
Species where no ortholog for ACR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ACR Gene

ENSEMBL:
Gene Tree for ACR (if available)
TreeFam:
Gene Tree for ACR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACR: view image
Alliance of Genome Resources:
Additional Orthologs for ACR

Paralogs for ACR Gene

Pseudogenes.org Pseudogenes for ACR Gene

genes like me logo Genes that share paralogs with ACR: view

No data available for Paralogs for ACR Gene

Variants for ACR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACR Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs145373249 Benign: not provided 50,738,236(+) A/G
NM_001097.3(ACR):c.1A>G (p.Met1Val)
INITIATIOR_CODON_VARIANT,MISSENSE
rs368378183 Likely Benign: not provided 50,738,301(+) C/T
NM_001097.3(ACR):c.66C>T (p.Asn22=)
SYNONYMOUS
rs5771002 Benign: not specified 50,744,827(+) A/G
NM_001097.3(ACR):c.886A>G (p.Met296Val)
MISSENSE
rs6009961 Benign: not specified; not provided 50,744,057(+) A/G
NM_001097.3(ACR):c.566-4A>G
INTRON
rs79314756 Benign: not provided 50,738,306(+) C/T
NM_001097.3(ACR):c.71C>T (p.Thr24Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ACR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ACR Gene

Variant ID Type Subtype PubMed ID
dgv1344e212 CNV gain 25503493
dgv784n67 CNV gain 20364138
esv3648096 CNV loss 21293372
nsv428394 CNV loss 18775914
nsv955205 CNV deletion 24416366
nsv962805 CNV duplication 23825009
nsv962806 CNV duplication 23825009

Variation tolerance for ACR Gene

Residual Variation Intolerance Score: 77.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACR
Leiden Open Variation Database (LOVD)
ACR

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACR Gene

Disorders for ACR Gene

MalaCards: The human disease database

(22) MalaCards diseases for ACR Gene - From: COP and GCD

Disorder Aliases PubMed IDs
varicocele
  • scrotal varices
chronic congestive splenomegaly
supine hypotensive syndrome
  • antepartum maternal hypotension syndrome
waterhouse-friderichsen syndrome
  • meningococcal hemorrhagic adrenalitis
male infertility
  • infertility male
- elite association - COSMIC cancer census association via MalaCards
Search ACR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACR

genes like me logo Genes that share disorders with ACR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACR Gene

Publications for ACR Gene

  1. Molecular cloning of human preproacrosin cDNA. (PMID: 2298447) Adham IM … Engel W (Human genetics 1990) 2 3 4 22
  2. Evaluation of the proacrosin/acrosin system and its mechanism of activation in human sperm extracts. (PMID: 11839395) Zahn A … Vazquez-Levin MH (Journal of reproductive immunology 2002) 3 4 22
  3. Inhibition of acrosin by protein C inhibitor and localization of protein C inhibitor to spermatozoa. (PMID: 7521127) Zheng X … Binder BR (The American journal of physiology 1994) 3 4 22
  4. Molecular cloning, sequencing and restriction mapping of the genomic sequence encoding human proacrosin. (PMID: 1628652) Vazquez-Levin MH … Gordon JW (European journal of biochemistry 1992) 3 4 22
  5. Nucleotide sequence and exon-intron organization of the human proacrosin gene. (PMID: 2114285) Keime S … Engel W (European journal of biochemistry 1990) 3 4 22

Products for ACR Gene

Sources for ACR Gene