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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 protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
ACRV1 (Acrosomal Vesicle Protein 1) is a Protein Coding gene. Diseases associated with ACRV1 include Byssinosis and Pneumoconiosis Due To Talc. An important paralog of this gene is PATE3.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH11J125680 | Promoter | 0.3 | EPDnew | 600.7 | +0.0 | 7 | 0.1 | ACRV1 RF00004-028 RNU2-35P CHEK1 | ||
GH11J125624 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE CraniofacialAtlas | 4.9 | +54.6 | 54586 | 3.8 | HNRNPL CREB1 CTCF TEAD4 PRDM10 ZNF629 TFE3 LEF1 SOX13 IKZF1 | CHEK1 MN309420 lnc-ACRV1-2 TMEM218 ENSG00000255062 MSANTD2 TIRAP STT3A CCDC15 STT3A-AS1 | |
GH11J125673 | Enhancer | 0.4 | Ensembl | 0.4 | +6.3 | 6273 | 2 | FOS JUN ZNF493 | CHEK1 ACRV1 RF00004-028 RNU2-35P | |
GH11J125670 | Enhancer | 0.3 | Ensembl | 0.4 | +9.7 | 9673 | 2.4 | JUN | CHEK1 ACRV1 RF00004-028 RNU2-35P | |
GH11J125701 | Enhancer | 0.3 | Ensembl | 0.4 | -21.1 | -21127 | 1.2 | ZIC2 | piR-33303-042 CHEK1 HYLS1 piR-34812 ACRV1 PATE1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001669 | acrosomal vesicle | IEA | -- |
GO:0031410 | cytoplasmic vesicle | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007275 | multicellular organism development | TAS | 1693291 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | |||||||||||||||||||||
SP3: | |||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACRV1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ACRV1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACRV1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Acrv1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Acrv1 30 17 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs193921098 | Uncertain Significance: Malignant tumor of prostate | 125,676,409(-) | G/A | MISSENSE_VARIANT | |
rs34788353 | - | p.Gly126Arg |
Disorder | Aliases | PubMed IDs |
---|---|---|
byssinosis |
|
|
pneumoconiosis due to talc |
|
|
spastic paraplegia 24, autosomal recessive |
|
|
spastic hemiplegia |
|
|
hordeolum |
|
|