LARP7
entrez
51574
canonical
uniprot
Q4G0J3
canonical
ensembl
ENSG00000174720
resolver
ensp
ENSP00000344950
resolver
ensp
ENSP00000421541
resolver
ensp
ENSP00000422626
resolver
ensp
ENSP00000426376
resolver
ensp
ENSP00000499190
resolver
ensp
ENSP00000508585
resolver
ensp
ENSP00000509527
resolver
ensp
ENSP00000511571
resolver
ensp
ENSP00000511576
resolver
ensp
ENSP00000511577
resolver
ensp
ENSP00000565140
resolver
ensp
ENSP00000565141
resolver
ensp
ENSP00000565146
resolver
ensp
ENSP00000565148
resolver
ensp
ENSP00000565149
resolver
ensp
ENSP00000565150
resolver
ensp
ENSP00000596209
resolver
ensp
ENSP00000772102
resolver
enst
ENST00000511529
resolver
enst
ENST00000692416
resolver
enst
ENST00000693375
resolver
enst
ENST00000694891
resolver
enst
ENST00000694898
resolver
enst
ENST00000694899
resolver
enst
ENST00000895081
resolver
enst
ENST00000895087
resolver
enst
ENST00000895089
resolver
enst
ENST00000895090
resolver
enst
ENST00000895091
resolver
genesymbol
LARP7
resolver
hgnc
HGNC:24912
resolver
uniprot
A0A8I5KUI4
resolver
uniprot
A0A8Q3SHH4
resolver
uniprot
A0A8Q3SHN7
resolver
uniprot
B2ZHN6
resolver
uniprot
H0YA82
resolver
uniprot
Q3B7A9
resolver
uniprot
Q9P1S7
resolver
uniprot
Q9Y3Z8
resolver
uniprot_entry
A0A8I5KUI4_HUMAN
resolver
uniprot_entry
A0A8Q3SHH4_HUMAN
resolver
uniprot_entry
A0A8Q3SHN7_HUMAN
resolver
uniprot_entry
H0YA82_HUMAN
resolver
uniprot_entry
LARP7_HUMAN
resolver
uniprot_sec
B2ZHN6
resolver
uniprot_sec
Q3B7A9
resolver
uniprot_sec
Q9P1S7
resolver
uniprot_sec
Q9Y3Z8
resolver
amino_acid_sequence
METESGNQEKVMEEESTEKKKEVEKKKRSRVKQVLADIAKQVDFWFGDANLHKDRFLREQIEKSRDGYVDISLLVSFNKMKKLTTDGKLIARALRSSAVVELDLEGTRIRRKKPLGERPKDEDERTVYVELLPKNVNHSWIERVFGKCGNVVYISIPHYKSTGDPKGFAFVEFETKEQAAKAIEFLNNPPEEAPRKPGIFPKTVKNKPIPALRVVEEKKKKKKKKGRMKKEDNIQAKEENMDTSNTSISKMKRSRPTSEGSDIESTEPQKQCSKKKKKRDRVEASSLPEVRTGKRKRSSSEDAESLAPRSKVKKIIQKDIIKEASEASKENRDIEISTEEEKDTGDLKDSSLLKTKRKHKKKHKERHKMGEEVIPLRVLSKSEWMDLKKEYLALQKASMASLKKTISQIKSESEMETDSGVPQNTGMKNEKTANREECRTQEKVNATGPQFVSGVIVKIISTEPLPGRKQVRDTLAAISEVLYVDLLEGDTECHARFKTPEDAQAVINAYTEINKKHCWKLEILSGDHEQRYWQKILVDRQAKLNQPREKKRGTEKLITKAEKIRLAKTQQASKHIRFSEYD
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:21937992, ECO:0000269|PubMed:22865833, ECO:0000269|PubMed:26374271, ECO:0000269|PubMed:27766953, ECO:0000269|PubMed:29576627, ECO:0000269|PubMed:29619239, ECO:0000269|PubMed:30006060, ECO:0000269|PubMed:32017898}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: RNA-binding protein that specifically binds distinct small nuclear RNA (snRNAs) and regulates their processing and function (PubMed:18249148, PubMed:32017898). Specifically binds the 7SK snRNA (7SK RNA) and acts as a core component of the 7SK ribonucleoprotein (RNP) complex, thereby acting as a negative regulator of transcription elongation by RNA polymerase II (PubMed:18249148, PubMed:18483487). The 7SK RNP complex sequesters the positive transcription elongation factor b (P-TEFb) in a large inactive 7SK RNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:18249148, PubMed:18483487). The 7SK RNP complex also promotes snRNA gene transcription by RNA polymerase II via interaction with the little elongation complex (LEC) (PubMed:28254838). LARP7 specifically binds to the highly conserved 3'-terminal U-rich stretch of 7SK RNA; on stimulation, remains associated with 7SK RNA, whereas P-TEFb is released from the complex (PubMed:18281698, PubMed:18483487). LARP7 also acts as a regulator of mRNA splicing fidelity by promoting U6 snRNA processing (PubMed:32017898). Specifically binds U6 snRNAs and associates with a subset of box C/D RNP complexes: promotes U6 snRNA 2'-O-methylation by facilitating U6 snRNA loading into box C/D RNP complexes (PubMed:32017898). U6 snRNA 2'-O-methylation is required for mRNA splicing fidelity (PubMed:32017898). Binds U6 snRNAs with a 5'-CAGGG-3' sequence motif (PubMed:32017898). U6 snRNA processing is required for spermatogenesis (By similarity). {ECO:0000250|UniProtKB:Q05CL8, ECO:0000269|PubMed:18249148, ECO:0000269|PubMed:18281698, ECO:0000269|PubMed:18483487, ECO:0000269|PubMed:28254838, ECO:0000269|PubMed:32017898}.
uniprot
proteins
mass_dalton
66899
uniprot
proteins
mutagenesis
MUTAGEN 44; /note="F->A: Reduced binding to U6 snRNA without affecting binding to 7SKRNA. Reduced 2'-O-methylation of U6 snRNAs."; /evidence="ECO:0000269|PubMed:32017898"; MUTAGEN 128; /note="Y->D: Loss of 7SKRNA-binding and marked decrease in 7SKRNP complex formation."; /evidence="ECO:0000269|PubMed:18249148"; MUTAGEN 130; /note="E->A: Decreased RNA-binding."; /evidence="ECO:0000269|PubMed:25753663"; MUTAGEN 168; /note="F->A: Does not affect RNA-binding."; /evidence="ECO:0000269|PubMed:25753663"; MUTAGEN 451; /note="F->A: Does not affect binding to the 7SKRNA."; /evidence="ECO:0000269|PubMed:29946027"; MUTAGEN 472; /note="R->A: Does not affect binding to the 7SKRNA."; /evidence="ECO:0000269|PubMed:29946027"; MUTAGEN 483; /note="Y->A: Reduced binding to the 7SKRNA. Does not affect binding to U6 snRNA."; /evidence="ECO:0000269|PubMed:29946027, ECO:0000269|PubMed:32017898"; MUTAGEN 483; /note="Y->F: Does not affect binding to the 7SKRNA."; /evidence="ECO:0000269|PubMed:29946027"; MUTAGEN 496; /note="R->A: Strongly reduced binding to the stem loop 4 of 7SKRNA."; /evidence="ECO:0000269|PubMed:29946027
uniprot
proteins
protein_family
LARP7 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18249148
uniprot
proteins
pubmed
18281698
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18483487
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19906723
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21937992
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22865833
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25753663
uniprot
proteins
pubmed
26374271
uniprot
proteins
pubmed
27679474
uniprot
proteins
pubmed
27766953
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28254838
uniprot
proteins
pubmed
29051200
uniprot
proteins
pubmed
29576627
uniprot
proteins
pubmed
29619239
uniprot
proteins
pubmed
29946027
uniprot
proteins
pubmed
30006060
uniprot
proteins
pubmed
30824372
uniprot
proteins
pubmed
32017898
uniprot
proteins
sequence_length
582
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:18483487}.
uniprot
proteins