Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51574
Gene name Gene Name - the full gene name approved by the HGNC.	La ribonucleoprotein 7, transcriptional regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LARP7
Synonyms (NCBI Gene) Gene synonyms aliases	ALAZS, HDCMA18P, PIP7S, hLARP7
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q25
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs755439936	ACAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs778909076	GTTA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs1554013625	AGGATAC>-	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1578642104	ATACAGAAATTAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(38)

miRTarBase ID	miRNA	Experiments
MIRT1104865	hsa-miR-1251	CLIP-seq
MIRT1104866	hsa-miR-1279	CLIP-seq
MIRT1104867	hsa-miR-1297	CLIP-seq
MIRT1104868	hsa-miR-26a	CLIP-seq
MIRT1104869	hsa-miR-26b	CLIP-seq
MIRT1104870	hsa-miR-3545-3p	CLIP-seq
MIRT1104871	hsa-miR-3611	CLIP-seq
MIRT1104872	hsa-miR-4465	CLIP-seq
MIRT1104873	hsa-miR-4477a	CLIP-seq
MIRT1104874	hsa-miR-452	CLIP-seq
MIRT1104875	hsa-miR-4536	CLIP-seq
MIRT1104876	hsa-miR-4676-3p	CLIP-seq
MIRT1104877	hsa-miR-499-3p	CLIP-seq
MIRT1104878	hsa-miR-499a-3p	CLIP-seq
MIRT1104879	hsa-miR-581	CLIP-seq
MIRT1104880	hsa-miR-593	CLIP-seq
MIRT1104866	hsa-miR-1279	CLIP-seq
MIRT1104881	hsa-miR-1305	CLIP-seq
MIRT1104882	hsa-miR-3065-5p	CLIP-seq
MIRT1104883	hsa-miR-3163	CLIP-seq
MIRT1104884	hsa-miR-3653	CLIP-seq
MIRT1104885	hsa-miR-3658	CLIP-seq
MIRT1104886	hsa-miR-3662	CLIP-seq
MIRT1104887	hsa-miR-421	CLIP-seq
MIRT1104875	hsa-miR-4536	CLIP-seq
MIRT1104877	hsa-miR-499-3p	CLIP-seq
MIRT1104878	hsa-miR-499a-3p	CLIP-seq
MIRT2028866	hsa-miR-3117-5p	CLIP-seq
MIRT1104881	hsa-miR-1305	CLIP-seq
MIRT1104882	hsa-miR-3065-5p	CLIP-seq
MIRT2028866	hsa-miR-3117-5p	CLIP-seq
MIRT1104883	hsa-miR-3163	CLIP-seq
MIRT1104886	hsa-miR-3662	CLIP-seq
MIRT2560210	hsa-miR-3913-3p	CLIP-seq
MIRT1104887	hsa-miR-421	CLIP-seq
MIRT2560211	hsa-miR-4662a-3p	CLIP-seq
MIRT2560212	hsa-miR-489	CLIP-seq
MIRT1104866	hsa-miR-1279	CLIP-seq

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18483487
GO:0000494	Process	Box C/D sno(s)RNA 3'-end processing	IEA
GO:0000494	Process	Box C/D sno(s)RNA 3'-end processing	IMP	32017898
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	18281698, 18483487, 20562857, 23455922, 23602568, 25470060, 26659056, 28514442, 29513927, 30177828, 30824372, 30833792, 31046837, 32707033, 33961781, 35271311, 39251607
GO:0005634	Component	Nucleus	IDA	28254838
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006396	Process	RNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0008380	Process	RNA splicing	IEA
GO:0017070	Function	U6 snRNA binding	IDA	32017898
GO:0017070	Function	U6 snRNA binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0032897	Process	Negative regulation of viral transcription	IMP	18249148, 18483487
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IC	18483487
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IEA
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IMP	32017898
GO:0097322	Function	7SK snRNA binding	IDA	18249148, 18483487, 27679474, 28431135, 29946027
GO:0120259	Component	7SK snRNP	IDA	18249148, 18483487, 28431135
GO:1904871	Process	Positive regulation of protein localization to Cajal body	IDA	28254838
GO:1905382	Process	Positive regulation of snRNA transcription by RNA polymerase II	IDA	28254838
GO:1990438	Process	U6 2'-O-snRNA methylation	IEA
GO:1990438	Process	U6 2'-O-snRNA methylation	IMP	32017898
GO:1990904	Component	Ribonucleoprotein complex	IDA	19906723, 28254838
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
612026	24912	ENSG00000174720

Protein

UniProt ID

Q4G0J3

Protein name

La-related protein 7 (La ribonucleoprotein domain family member 7) (hLARP7) (P-TEFb-interaction protein for 7SK stability) (PIP7S)

Protein 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 ri

PDB

4WKR , 5KNW , 6D12 , 7SLP , 7SLQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05383	La	38 → 96	La domain	Domain
PF00076	RRM_1	127 → 190	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF08777	RRM_3	454 → 552	RNA binding motif	Domain

Sequence

METESGNQEKVMEEESTEKKKEVEKKKRSRVKQVLADIAKQVDFWFGDANLHKDRFLREQ
IEKSRDGYVDISLLVSFNKMKKLTTDGKLIARALRSSAVVELDLEGTRIRRKKPLGERPK
DEDERTVYVELLPKNVNHSWIERVFGKCGNVVYISIPHYKSTGDPKGFAFVEFETKEQAA
KAIEFLNNPPEEAPRKPGIFPKTVKNKPIPALRVVEEKKKKKKKKGRMKKEDNIQAKEEN
MDTSNTSISKMKRSRPTSEGSDIESTEPQKQCSKKKKKRDRVEASSLPEVRTGKRKRSSS
EDAESLAPRSKVKKIIQKDIIKEASEASKENRDIEISTEEEKDTGDLKDSSLLKTKRKHK
KKHKERHKMGEEVIPLRVLSKSEWMDLKKEYLALQKASMASLKKTISQIKSESEMETDSG
VPQNTGMKNEKTANREECRTQEKVNATGPQFVSGVIVKIISTEPLPGRKQVRDTLAAISE
VLYVDLLEGDTECHARFKTPEDAQAVINAYTEINKKHCWKLEILSGDHEQRYWQKILVDR
QAKLNQPREKKRGTEKLITKAEKIRLAKTQQASKHIRFSEYD

Sequence length

582

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Microcephalic Primordial Dwarfism	Microcephalic primordial dwarfism, Alazami type	rs1560929898, rs775657157, rs1578580129, rs1057519017, rs775430086, rs1554011754, rs1578642104, rs1057519297, rs750946801, rs1060499762, rs761208307, rs763929099, rs1554011296	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alazami-Yuan Syndrome	alazami-yuan syndrome	N/A	N/A	ClinVar
Epileptic encephalopathy	epileptic encephalopathy	N/A	N/A	ClinVar
Mental retardation	intellectual disability	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Aphasia	Associate	31467394
Breast Neoplasms	Inhibit	25053741
Breast Neoplasms	Associate	32726637
Carcinogenesis	Associate	22488152
Developmental Disabilities	Associate	27766953, 31467394, 32017898, 33356342
Facial Dysmorphism with Multiple Malformations	Associate	33356342
Growth Disorders	Associate	31467394
HIV Infections	Associate	40113991
Immunologic Deficiency Syndromes	Associate	27766953
Infections	Associate	40113991
Intellectual Disability	Associate	31467394, 33356342
Neoplasm Metastasis	Inhibit	25053741
Neoplasms	Inhibit	22488152
Neoplasms	Associate	27766953, 32017898, 32726637, 36434634
Seizures	Associate	31467394
Stomach Neoplasms	Inhibit	22488152
Vitiligo	Associate	34107850

LARP7 (La ribonucleoprotein 7, transcriptional regulator)