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This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015]
BLCAP (BLCAP Apoptosis Inducing Factor) is a Protein Coding gene. Diseases associated with BLCAP include Bladder Cancer and Tongue Carcinoma.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21217774 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
GO:0030262 | apoptotic nuclear changes | IDA | 17031575 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | |||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||
SP4: | - | - | - | ||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BLCAP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BLCAP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BLCAP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Blcap 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BLCAP 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Blcap 30 |
|
||
Chicken (Gallus gallus) |
Aves | BLCAP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BLCAP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | blcap 30 |
|
||
Str.634 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.12525 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | blcap 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5031 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | bc10 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | Y73E7A.6 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11557676 | - | p.Lys15Arg | |||
rs11557677 | - | p.Tyr2Cys | |||
VAR_068909 | - | p.Gln5Arg |
Disorder | Aliases | PubMed IDs |
---|---|---|
bladder cancer |
|
|
tongue carcinoma |
|
|