InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LARP7

Summary

InnateDB Protein

IDBP-34620.6

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

ENSP00000314311

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.

Experimentally validated
Total	45 [view]
Protein-Protein	44 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0044822	poly(A) RNA binding