• Gene id: 56

Gene Summary

• Gene Symbol: ACRV1   Gene   UCSC   Ensembl
• Aliases: D11S4365, SP-10, SPACA2
• Gene name: acrosomal vesicle protein 1
• Alternate names: acrosomal protein SP-10, sperm protein 10,
• Gene location: 11q24.2 (125680846: 125671521)     Exons: 5     NC_000019.10
• Gene summary(Entrez): This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle pr
• OMIM: 102525

SNPs

rs864309485

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

NC_000008.11   g.30846888A>C
NC_000008.10   g.30704404A>C
NG_053141.1   g.71125T>G
NM_001350162.2   c.3279T>G
NM_001350162.1   c.3279T>G
XM_006716369.4   c.3279T>G
XM_011544593.3   c.2970T>G
XM_011544590.3   c.3279T>G
XM_011544589.3   c.3279T>G
XM_011544591.3   c.3279T>

rs202094637

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

NC_000021.9   g.32602299G>A
NC_000021.9   g.32602299G>C
NC_000021.8   g.33974609G>A
NC_000021.8   g.33974609G>C
NG_033839.2   g.15310C>T
NG_033839.2   g.15310C>G
NM_021254.4   c.735C>T
NM_021254.4   c.735C>G
NM_021254.3   c.735C>T
NM_021254.3   c.735C>G
NM_021254.2   c.73

rs147088100

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

NC_000023.11   g.70853248G>A
NC_000023.10   g.70073098G>A
NG_012574.2   g.60470C>T
NG_012574.1   g.60470C>T
NM_031276.2   c.405C>T
NM_031276.3   c.405C>T
NM_001003811.1   c.450C>T
NM_001003811.2   c.450C>T
XM_011530994.1   c.405C>T
XM_017029649.1   c.405C>T|SEQ=[G/A]|GE

rs143740376

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

NC_000021.9   g.32609853G>A
NC_000021.8   g.33982163G>A
NG_033839.2   g.7756C>T
NM_021254.4   c.292C>T
NM_021254.3   c.292C>T
NM_021254.2   c.292C>T
NM_001350334.2   c.63C>T
NM_001350334.1   c.63C>T
NM_001350336.2   c.292C>T
NM_001350336.1   c.292C>T
NM_001350337.2   c.29

rs143246552

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

NC_000023.11   g.70853093T>C
NC_000023.10   g.70072943T>C
NG_012574.2   g.60625A>G
NG_012574.1   g.60625A>G
NM_031276.3   c.466A>G
NM_031276.2   c.466A>G
NM_001003811.2   c.511A>G
NM_001003811.1   c.511A>G
XM_011530994.1   c.466A>G
XM_017029649.1   c.466A>G
NP_112566.2  

rs140984555

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

NC_000023.11   g.70605421C>T
NC_000023.10   g.69825271C>T
NG_012574.2   g.308297G>A
NG_012574.1   g.308297G>A
NM_031276.2   c.2047G>A
NM_031276.3   c.2047G>A
NM_001003811.1   c.2092G>A
NM_001003811.2   c.2092G>A
XM_017029652.2   c.856G>A
XM_011530994.1   c.2047G>A
XM_01  

rs35576928

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

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs35262993

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

NC_000016.10   g.11281185C>T
NC_000016.9   g.11375042C>T
NM_002761.3   c.54G>A
NM_002761.2   c.54G>A|SEQ=[C/T]|GENE=PRM1
LOC105371082   105371082

rs13017562

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

NC_000002.12   g.28492063G>A
NC_000002.12   g.28492063G>C
NC_000002.11   g.28714930G>A
NC_000002.11   g.28714930G>C
NG_051297.1   g.8485G>A
NG_051297.1   g.8485G>C|SEQ=[G/A/C]|GENE=PLB1

rs12625552

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

NC_000020.11   g.16427627A>G
NC_000020.10   g.16408272A>G
NG_028043.2   g.150808T>C
NG_028043.1   g.150808T>C|SEQ=[A/G]|GENE=KIF16B

rs12520985

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

NC_000005.10   g.133911770T>G
NC_000005.9   g.133247461T>G|SEQ=[T/G]|GENE=WSPAR

rs12484907

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

NC_000022.11   g.50149884G>A
NC_000022.10   g.50588313G>A|SEQ=[G/A]|GENE=MOV10L1

rs12170772

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

NC_000022.11   g.50145832C>A
NC_000022.11   g.50145832C>T
NC_000022.10   g.50584261C>A
NC_000022.10   g.50584261C>T|SEQ=[C/A/T]|GENE=MOV10L1

rs11704548

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

NC_000022.11   g.50144201G>A
NC_000022.10   g.50582630G>A
XM_005261923.4   c.2403G>A
XM_005261923.1   c.2403G>A
NM_018995.3   c.2463G>A
NM_018995.2   c.2463G>A
XM_011530700.2   c.2307G>A
XR_002958704.1   n.2546G>A
XM_011530697.1   c.2403G>A
XM_011530696.1   c.2463G>A
XM  

rs2301365

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

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2272840

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

NC_000022.11   g.50149724G>A
NC_000022.11   g.50149724G>T
NC_000022.10   g.50588153G>A
NC_000022.10   g.50588153G>T|SEQ=[G/A/T]|GENE=MOV10L1

rs2272837

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

NC_000022.11   g.50144197A>C
NC_000022.11   g.50144197A>G
NC_000022.10   g.50582626A>C
NC_000022.10   g.50582626A>G
XM_005261923.4   c.2399A>C
XM_005261923.4   c.2399A>G
XM_005261923.1   c.2399A>C
XM_005261923.1   c.2399A>G
NM_018995.3   c.2459A>C
NM_018995.3   c.2459A>

rs2272836

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

NC_000022.11   g.50144121C>A
NC_000022.11   g.50144121C>T
NC_000022.10   g.50582550C>A
NC_000022.10   g.50582550C>T
XM_005261923.4   c.2323C>A
XM_005261923.4   c.2323C>T
XM_005261923.1   c.2323C>A
XM_005261923.1   c.2323C>T
NM_018995.3   c.2383C>A
NM_018995.3   c.2383C>

rs2070923

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

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

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

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs763110

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

NC_000001.11   g.172658358C>T
NC_000001.10   g.172627498C>T
NG_007269.1   g.4314C>T|SEQ=[C/T]|GENE=FASLG

rs737008

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

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

rs323347

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

NC_000008.11   g.30848708A>G
NC_000008.10   g.30706224A>G
NG_053141.1   g.69305T>C
NM_001350162.2   c.1459T>C
NM_001350162.1   c.1459T>C
NP_001337091.1   p.Cys487Arg|SEQ=[A/G]|GENE=TEX15

rs323346

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

NC_000008.11   g.30845915T>C
NC_000008.10   g.30703431T>C
NG_053141.1   g.72098A>G
NM_001350162.2   c.4252A>G
NM_001350162.1   c.4252A>G
NP_001337091.1   p.Ile1418Val|SEQ=[T/C]|GENE=TEX15

rs138271

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

NC_000022.11   g.50149702C>T
NC_000022.10   g.50588131C>T
XM_005261923.4   c.2655C>T
XM_005261923.1   c.2655C>T
NM_018995.3   c.2715C>T
NM_018995.2   c.2715C>T
XM_011530700.2   c.2559C>T
XM_011530697.1   c.2655C>T
XM_011530696.1   c.2715C>T
XM_011530699.1   c.2559C>T
XM  

rs2472680

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

NC_000003.12   g.119808929T>A
NC_000003.12   g.119808929T>C
NC_000003.12   g.119808929T>G
NC_000003.11   g.119527776T>A
NC_000003.11   g.119527776T>C
NC_000003.11   g.119527776T>G
NG_011856.1   g.33446T>A
NG_011856.1   g.33446T>C
NG_011856.1   g.33446T>G|SEQ=[T/A/C/G]

rs6525433

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

NC_000023.11   g.70853309T>C
NC_000023.10   g.70073159T>C
NG_012574.2   g.60409A>G
NG_012574.1   g.60409A>G
NM_031276.3   c.344A>G
NM_031276.2   c.344A>G
NM_001003811.2   c.389A>G
NM_001003811.1   c.389A>G
XM_011530994.1   c.344A>G
XM_017029649.1   c.344A>G
NP_112566.2  

rs4844247

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

NC_000023.11   g.70670451C>T
NC_000023.10   g.69890301C>T
NG_012574.2   g.243267G>A
NG_012574.1   g.243267G>A
NM_031276.3   c.1306G>A
NM_031276.2   c.1306G>A
NM_001003811.2   c.1351G>A
NM_001003811.1   c.1351G>A
XM_017029652.2   c.115G>A
XM_011530994.1   c.1306G>A
XM_01  

rs2241057

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

NC_000002.12   g.72134831A>G
NC_000002.11   g.72361960A>G
NG_007957.1   g.18004T>C
NM_019885.3   c.791T>C
NM_001277742.1   c.566T>C
XM_005264433.4   c.617T>C
XM_005264433.1   c.617T>C
XM_011532988.1   c.218T>C
NP_063938.1   p.Leu264Ser
NP_001264671.1   p.Leu189Ser
XP_00  

rs707718

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

NC_000002.12   g.72129320G>C
NC_000002.12   g.72129320G>T
NC_000002.11   g.72356449G>C
NC_000002.11   g.72356449G>T
NG_007957.1   g.23515C>G
NG_007957.1   g.23515C>A
NM_019885.3   c.*2907C>G
NM_019885.3   c.*2907C>A
NM_001277742.1   c.*2907C>G
NM_001277742.1   c.*2907C>

rs2272838

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

NC_000022.11   g.50145772A>C
NC_000022.10   g.50584201A>C
XM_005261923.4   c.2529A>C
XM_005261923.1   c.2529A>C
NM_018995.3   c.2589A>C
NM_018995.2   c.2589A>C
XM_011530700.2   c.2433A>C
XR_002958704.1   n.2672A>C
XM_011530697.1   c.2529A>C
XM_011530696.1   c.2589A>C
XM  

rs17248147

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

NC_000022.11   g.50149884G>A
NC_000022.10   g.50588313G>A|SEQ=[G/A]|GENE=MOV10L1

rs6313

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

NC_000013.11   g.46895805G>A
NC_000013.11   g.46895805G>C
NC_000013.10   g.47469940G>A
NC_000013.10   g.47469940G>C
NG_013011.1   g.6230C>T
NG_013011.1   g.6230C>G
NM_000621.5   c.102C>T
NM_000621.5   c.102C>G
NM_000621.4   c.102C>T
NM_000621.4   c.102C>G
NM_001378924.1  

rs323344

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

NC_000008.11   g.30845009A>C
NC_000008.10   g.30702525A>C
NG_053141.1   g.73004T>G
NM_001350162.2   c.5158T>G
NM_001350162.1   c.5158T>G
NP_001337091.1   p.Leu1720Val|SEQ=[A/C]|GENE=TEX15

rs323345

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

NC_000008.11   g.30845086T>C
NC_000008.10   g.30702602T>C
NG_053141.1   g.72927A>G
NM_001350162.2   c.5081A>G
NM_001350162.1   c.5081A>G
NP_001337091.1   p.Asn1694Ser|SEQ=[T/C]|GENE=TEX15

rs3105782

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

NC_000003.12   g.187253508A>G
NC_000003.11   g.186971296A>G
NG_029440.1   g.43515T>C|SEQ=[A/G]|GENE=MASP1

rs1237691411

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

NC_000012.12   g.101737863A>G
NC_000012.11   g.102131641A>G
NG_021181.1   g.6607T>C
NM_153694.4   c.73T>C
NM_001177949.2   c.73T>C
NM_001177949.1   c.73T>C
NM_001177948.1   c.73T>C
XM_005268922.5   c.313T>C
XM_005268922.1   c.313T>C
XM_005268926.4   c.73T>C
XM_005268926  

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Associated with regulation of round spermatid-specific gene transcription and acrosome biogenesis	MIK: 11730901
Involved in sperm-zona binding or penetration, acrosome reaction	MIK: 7888499
Acrosome reaction	MIK: 7888499
Assocaited with regulation of round spermatid-specific gene transcription and acrosome biogenesis	MIK: 11730901
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
May be involved in sperm-zona binding or penetration, Acrosome reaction	MIK: 7888499
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
11730901	Assocaited with regulation of round spermatid-specific gene transcription and acrosome biogenesis				Male infertility
7888499	May be involved in sperm-zona binding or penetration, Acrosome reaction				Male infertility
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R