• Gene id: 49

Gene Summary

• Gene Symbol: ACR   Gene   UCSC   Ensembl
• Gene name: acrosin
• Alternate names: acrosin, acrosin light and heavy chain prepropeptide, preproacrosin, proacrosin,
• Gene location: 22q13.33 (50738223: 50745298)     Exons: 5     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 102480

SNPs

rs879255539

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000023.11   g.19003070_19003074delinsTCT
NC_000023.10   g.19021188_19021192delinsTCT
NG_021304.1   g.124564_124568delinsAGA
NM_005756.3   c.1993_1997delinsAGA
NM_005756.4   c.1993_1997delinsAGA
NM_001079858.3   c.2002_2006delinsAGA
NM_001079858.2   c.2002_2006d

rs879255538

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000023.11   g.18994921del
NC_000023.10   g.19013039del
NG_021304.1   g.132718del
NM_005756.3   c.2836del
NM_005756.4   c.2836del
NM_001079858.3   c.2845del
NM_001079858.2   c.2845del
NM_001079859.2   c.2803del
NM_001079859.3   c.2803del
NM_001079860.2   c.2779del
NM_  

rs397514561

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.780097T>C
NC_000007.13   g.819734T>C
NG_033137.1   g.58397T>C
NM_017802.4   c.2384T>C
NM_017802.3   c.2384T>C
NR_075098.1   n.2342T>C
XM_024446814.1   c.1778T>C
NP_060272.3   p.Leu795Pro
XP_024302582.1   p.Leu593Pro|SEQ=[T/C]|GENE=DNAAF5

rs55763075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

rs16968382

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.76586021A>C
NC_000015.9   g.76878362A>C|SEQ=[A/C]|GENE=SCAPER
MIR3713   100500855

rs12082710

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91689780T>A
NC_000001.11   g.91689780T>C
NC_000001.10   g.92155337T>A
NC_000001.10   g.92155337T>C
NG_027757.1   g.221223A>T
NG_027757.1   g.221223A>G|SEQ=[T/A/C]|GENE=TGFBR3

rs11677854

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48664148C>T
NC_000002.11   g.48891287C>T
NG_033050.2   g.139224C>T
NG_033050.1   g.139224C>T|SEQ=[C/T]|GENE=GTF2A1L
STON1-GTF2A1L   286749

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs4045481

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.1096837G>A
NC_000004.11   g.1090625G>A
NG_027812.2   g.21958C>T
NG_027812.1   g.21728C>T
NM_001131034.4   c.174C>T
NM_001131034.3   c.174C>T
NM_194439.4   c.174C>T
NM_001193318.3   c.174C>T
NM_001193318.2   c.174C>T
NR_159501.1   n.486C>T
NR_159498.1   n.

rs3816183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.42788579T>C
NC_000002.11   g.43015719T>C
XM_005264230.4   c.109A>G
XM_005264230.1   c.109A>G
XM_011532730.3   c.7A>G
XM_011532729.3   c.109A>G
XM_011532731.3   c.109A>G
NM_012205.3   c.109A>G
NM_012205.2   c.109A>G
XM_017003717.2   c.7A>G
XM_024452774.1  

rs1394205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.49154446C>G
NC_000002.12   g.49154446C>T
NC_000002.11   g.49381585C>G
NC_000002.11   g.49381585C>T
NG_008146.1   g.5046G>C
NG_008146.1   g.5046G>A
NM_000145.4   c.-29G>C
NM_000145.4   c.-29G>A
NM_000145.3   c.-29G>C
NM_000145.3   c.-29G>A
NM_181446.3   c.

rs1328641

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36170892C>T
NC_000013.10   g.36745029C>T
NG_033786.1   g.48724G>A|SEQ=[C/T]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs769423

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.3092923C>T
NC_000017.10   g.2996217C>T
NM_002548.2   c.74G>A
NP_002539.2   p.Arg25Gln|SEQ=[C/T]|GENE=OR1D2

rs12676

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.53823776A>C
NC_000003.12   g.53823776A>T
NC_000003.11   g.53857803A>C
NC_000003.11   g.53857803A>T
NG_028042.1   g.27618T>G
NG_028042.1   g.27618T>A
NM_018397.5   c.233T>G
NM_018397.5   c.233T>A
NM_018397.4   c.233T>G
NM_018397.4   c.233T>A
XM_006713251  

rs6166

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48962782C>T
NC_000002.11   g.49189921C>T
NG_008146.1   g.196710G>A
NM_000145.4   c.2039G>A
NM_000145.3   c.2039G>A
NM_181446.3   c.1961G>A
NM_181446.2   c.1961G>A
XM_011532736.2   c.1247G>A
XM_011532734.2   c.1808G>A
XM_011532733.2   c.2141G>A
XM_011532  

rs6165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48963902C>A
NC_000002.12   g.48963902C>G
NC_000002.12   g.48963902C>T
NC_000002.11   g.49191041C>A
NC_000002.11   g.49191041C>G
NC_000002.11   g.49191041C>T
NG_008146.1   g.195590G>T
NG_008146.1   g.195590G>C
NG_008146.1   g.195590G>A
NM_000145.4   c.91

rs7371084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs369191560

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48982976C>A
NC_000002.12   g.48982976C>T
NC_000002.11   g.49210115C>A
NC_000002.11   g.49210115C>T
NG_008146.1   g.176516G>T
NG_008146.1   g.176516G>A
NM_000145.4   c.604G>T
NM_000145.4   c.604G>A
NM_000145.3   c.604G>T
NM_000145.3   c.604G>A
NM_181446.  

rs147685926

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48963865T>C
NC_000002.11   g.49191004T>C
NG_008146.1   g.195627A>G
NM_000145.4   c.956A>G
NM_000145.3   c.956A>G
NM_181446.3   c.878A>G
NM_181446.2   c.878A>G
XM_011532736.2   c.164A>G
XM_011532734.2   c.725A>G
XM_011532733.2   c.1058A>G
XM_011532735.2  

rs1052133

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.9757089C>G
NC_000003.12   g.9757089C>T
NC_000003.11   g.9798773C>G
NC_000003.11   g.9798773C>T
NG_012106.1   g.12146C>G
NG_012106.1   g.12146C>T
NM_002542.5   c.977C>G
NM_002542.5   c.977C>T
NM_016819.3   c.*246C>G
NM_016819.3   c.*246C>T
NM_016820.3   c.

rs68073206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs12470652

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694299T>C
NC_000002.11   g.48921438T>C
NG_033050.2   g.169375T>C
NG_033050.1   g.169375T>C
NG_008193.2   g.66443A>G
NG_008193.1   g.66443A>G
NM_000233.4   c.872A>G
NM_000233.3   c.872A>G
XM_005264309.3   c.-69A>G
XM_017004089.1   c.617A>G
XM_017004090  

rs2293275

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C
  

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs1799724

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574705C>T
NC_000006.11   g.31542482C>T
NG_007462.1   g.4133C>T
NG_012010.1   g.7607C>T
NT_113891.3   g.3051992C>T
NT_113891.2   g.3052098C>T
NT_167246.2   g.2879746C>T
NT_167246.1   g.2885366C>T
NT_167249.2   g.2873985C>T
NT_167249.1   g.2873283C>T
NT  

rs4597581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A
  

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

rs9661103

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91870349T>A
NC_000001.11   g.91870349T>C
NC_000001.10   g.92335906T>A
NC_000001.10   g.92335906T>C
NG_027757.1   g.40654A>T
NG_027757.1   g.40654A>G|SEQ=[T/A/C]|GENE=TGFBR3

rs17576372

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91900617T>C
NC_000001.10   g.92366174T>C
NG_027757.1   g.10386A>G|SEQ=[T/C]|GENE=TGFBR3

Protein Summary

• Protein general information: P10323  
  • Name: Acrosin (EC 3.4.21.10) [Cleaved into: Acrosin light chain; Acrosin heavy chain]
  • Length: 421  
  • Mass: 45,847
• Sequence:

  MVEMLPTAILLVLAVSVVAKDNATCDGPCGLRFRQNPQGGVRIVGGKAAQHGAWPWMVSLQIFTYNSHRYHTCGG
  SLLNSRWVLTAAHCFVGKNNVHDWRLVFGAKEITYGNNKPVKAPLQERYVEKIIIHEKYNSATEGNDIALVEITP
  PISCGRFIGPGCLPHFKAGLPRGSQSCWVAGWGYIEEKAPRPSSILMEARVDLIDLDLCNSTQWYNGRVQPTNVC
  AGYPVGKIDTCQGDSGGPLMCKDSKESAYVVVGITSWGVGCARAKRPGIYTATWPYLNWIASKIGSNALRMIQSA
  TPPPPTTRPPPIRPPFSHPISAHLPWYFQPPPRPLPPRPPAAQPRPPPSPPPPPPPPASPLPPPPPPPPPTPSST
  TKLPQGLSFAKRLQQLIEVLKGKTYSDGKNHYDMETTELPELTSTS

• Structural information:
  • Protein Domains: Peptidase (43-290)
  • Interpro: IPR012267  IPR009003  IPR001314  IPR001254  IPR018114   IPR033116  
  • Prosite: PS50240 PS00134 PS00135
  • CDD: cd00190
  • STRING: ENSP00000216139
• Other Databases: GeneCards:  ACR  Malacards:  ACR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002020	protease binding	TAS	molecular function
GO:0002077	acrosome matrix dispersal	NAS	biological process
GO:0003677	DNA binding	NAS	molecular function
GO:0004040	amidase activity	ISS	molecular function
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0005507	copper ion binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005537	mannose binding	IDA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005798	Golgi-associated vesicle	IEA	cellular component
GO:0007190	activation of adenylate cyclase activity	IDA	biological process
GO:0007338	single fertilization	ISS	biological process
GO:0007339	binding of sperm to zona pellucida	IEA	biological process
GO:0007340	acrosome reaction	IMP	biological process
GO:0007340	acrosome reaction	TAS	biological process
GO:0008144	drug binding	ISS	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0042806	fucose binding	ISS	molecular function
GO:0043159	acrosomal matrix	TAS	cellular component
GO:0043234	protein complex	IDA	cellular component
GO:0048545	response to steroid hormone	IEA	biological process
GO:0007341	penetration of zona pellucida	IDA	biological process
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0002020	protease binding	TAS	molecular function
GO:0002077	acrosome matrix dispersal	NAS	biological process
GO:0003677	DNA binding	NAS	molecular function
GO:0004040	amidase activity	ISS	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0005507	copper ion binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005537	mannose binding	IDA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005798	Golgi-associated vesicle	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0007190	activation of adenylate cyclase activity	IDA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0007338	single fertilization	ISS	biological process
GO:0007339	binding of sperm to zona pellucida	IEA	biological process
GO:0007340	acrosome reaction	IMP	biological process
GO:0007340	acrosome reaction	TAS	biological process
GO:0008144	drug binding	ISS	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0042806	fucose binding	ISS	molecular function
GO:0043159	acrosomal matrix	TAS	cellular component
GO:0043234	protein complex	IDA	cellular component
GO:0048545	response to steroid hormone	IEA	biological process
GO:0007341	penetration of zona pellucida	IDA	biological process
GO:0002020	protease binding	TAS	molecular function
GO:0002077	acrosome matrix dispersal	NAS	biological process
GO:0003677	DNA binding	NAS	molecular function
GO:0004040	amidase activity	ISS	molecular function
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0005507	copper ion binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005537	mannose binding	IDA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0007190	activation of adenylate cyclase activity	IDA	biological process
GO:0007338	single fertilization	ISS	biological process
GO:0007340	acrosome reaction	IMP	biological process
GO:0007340	acrosome reaction	TAS	biological process
GO:0008144	drug binding	ISS	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0042806	fucose binding	ISS	molecular function
GO:0043159	acrosomal matrix	TAS	cellular component
GO:0043234	protein complex	IDA	cellular component
GO:0007341	penetration of zona pellucida	IDA	biological process

Diseases

Associated diseases	References
Fertilizing defects	INFBASE: 8224275
Unexplained infertility	INFBASE: 9203056
Male factor infertility	MIK: 3285991
Non obstructive azoospermia	MIK: 15380762
Hypospermatogenesis	MIK: 23675907
Non obstructive azoospermia	MIK: 15380762
Maturation arrest	MIK: 23675907
Sertoli cell only syndrome (SCOS)	MIK: 23675907
Male factor infertility	MIK: 3285991
Unexplained infertility	MIK: 9203056
Spermatogenesis defects	MIK: 3285991
Spermatogenesis defects	MIK: 3285991
Sperm-zona pellucida (ZP) binding	MIK: 7957989
Sperm-zona pellucida (ZP) binding	MIK: 7957989
Male factor infertility	MIK: 7957989
Fertilizing defects	MIK: 8224275
Cryptorchidism	MIK: 28606200
Fertilization rates	MIK: 8224275
Hypospermatogenesis (HS)	MIK: 23675907
Maturation arrest (MA)	MIK: 23675907
Sertoli cell-only syndrome (SCO)	MIK: 23675907
Male infertility	MIK: 3285991
Non obstructive azoospermia	MIK: 24012201
Sperm-zona pellucida (ZP) binding	MIK: 7957989
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 9203056

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
9203056	Unexplained infertility			17 infertile men	Male infertility
8224275	Fertilization rates			595 (463 couples being investigated for causes of infertility, and 132 couples undergoing IVF-ET for any indication except antisperm antibodies )	Male infertility
3285991	Male infertility, spermatozoa structure				Male infertility
23675907	Hypospermatogenesis (HS) maturation arrest (MA), Sertoli cell-only syndrome (SCO)				Male infertility	MND1 SPATA22 GAPDHS and ACR
15380762	Non-obstructive azoospermic			95 non-obstructive azoospermic men	Male infertility	Proacrosin
7957989	Sperm-zona pellucida (ZP) binding. Male infertility, Female infertility			50 (35 infertile couples, 15 men of proven fertility)	Male infertility, Female infertility	proacrosin acrosin
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray