Homo sapiens Protein: LARP7 | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||
InnateDB Protein | IDBP-483178.4 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | LARP7 | ||||||||||||||||||
Protein Name | La ribonucleoprotein domain family, member 7 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000422626 | ||||||||||||||||||
InnateDB Gene | IDBG-34614 (LARP7) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system. Within the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form, preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation. {ECO:0000269PubMed:18249148, ECO:0000269PubMed:18483487}. | ||||||||||||||||||
Subcellular Localization | Nucleus, nucleoplasm {ECO:0000269PubMed:18483487}. | ||||||||||||||||||
Disease Associations | Alazami syndrome (ALAZS) [MIM:615071]: A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia. {ECO:0000269PubMed:21937992, ECO:0000269PubMed:22865833}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000504
RNA recognition motif domain IPR002344 Lupus La protein IPR006630 RNA-binding protein Lupus La IPR014886 RNA-binding motif |
||||||||||||||||||
PFAM |
PF00076
PF05383 PF08777 |
||||||||||||||||||
PRINTS |
PR00302
|
||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00360
SM00715 |
||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q4G0J3 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q4G0J3 | ||||||||||||||||||
TrEMBL | D6RFF0 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 51574 | ||||||||||||||||||
UniGene | Hs.713663 | ||||||||||||||||||
RefSeq | NP_001253968 | ||||||||||||||||||
HUGO | HGNC:24912 | ||||||||||||||||||
OMIM | 612026 | ||||||||||||||||||
CCDS | CCDS58924 | ||||||||||||||||||
HPRD | 17095 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC106864 AF068284 AL049996 BC066945 BC107709 CH471057 EU667388 | ||||||||||||||||||
GenPept | AAF65503 AAH66945 AAI07710 ACD13786 CAB43230 EAX06282 EAX06283 EAX06284 | ||||||||||||||||||