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This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
LARP7 (La Ribonucleoprotein 7, Transcriptional Regulator) is a Protein Coding gene. Diseases associated with LARP7 include Alazami Syndrome and Autosomal Dominant Non-Syndromic Intellectual Disability 27. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is SSB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 18281698 |
GO:0017070 | U6 snRNA binding | IDA | 32017898 |
GO:0097322 | 7SK snRNA binding | IDA | 27679474 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 28254838 |
GO:0005654 | nucleoplasm | IEA,IDA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:1990904 | ribonucleoprotein complex | IEA,IDA | 19906723 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000494 | box C/D snoRNA 3'-end processing | IMP | 32017898 |
GO:0006396 | RNA processing | IEA | -- |
GO:0007283 | spermatogenesis | ISS | -- |
GO:0048024 | regulation of mRNA splicing, via spliceosome | IMP | 32017898 |
GO:1904871 | positive regulation of protein localization to Cajal body | IDA | 28254838 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LARP7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LARP7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LARP7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Larp7 30 17 31 |
|
OneToMany | |
Gm12666 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Larp7 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | LARP7 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LARP7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LARP7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LARP7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | larp7 30 |
|
||
Str.6238 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.13044 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | larp7 30 31 |
|
OneToOne | |
wufa10g04 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG42569 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LHP1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
666361 | Likely Pathogenic: Alazami syndrome | 112,646,334(+) | TTTTTCATTTTCTTTA | SPLICE_ACCEPTOR_VARIANT | |
666362 | Likely Pathogenic: Alazami syndrome | 112,647,781(+) | TAAAG/T | FRAMESHIFT_VARIANT | |
708811 | Likely Benign: not provided | 112,647,705(+) | C/T | MISSENSE_VARIANT | |
711671 | Likely Benign: not provided | 112,647,693(+) | T/C | MISSENSE_VARIANT | |
716109 | Benign: not provided | 112,647,286(+) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1006030 | CNV | gain | 25217958 |
nsv1014926 | CNV | gain | 25217958 |
nsv525715 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alazami syndrome |
|
|
autosomal dominant non-syndromic intellectual disability 27 |
|
|
med23 |
|
|
isolated growth hormone deficiency, type ia |
|
|