LARP7 - La ribonucleoprotein 7, transcriptional regulator Gene

Homo sapiens

Also known as ALAZS; PIP7S; hLARP7; HDCMA18P

Gene ID: 51574 | Gene type: protein coding

About LARP7

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:112,637,143-112,657,586 (from NCBI)

This gene has 39 transcripts (splice variants), 223 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 17.7), thyroid (RPKM 16.5) and 25 other tissues.

Summary

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 Products(12)

mRNA	Protein	Name
NM_001267039.4	NP_001253968.2	la-related protein 7 isoform 1
NM_001370974.1	NP_001357903.1	la-related protein 7 isoform 3
NM_001370975.1	NP_001357904.1	la-related protein 7 isoform 3
NM_001370976.1	NP_001357905.1	la-related protein 7 isoform 4
NM_001370977.1	NP_001357906.1	la-related protein 7 isoform 4
NM_001370978.1	NP_001357907.1	la-related protein 7 isoform 1
NM_001370979.1	NP_001357908.1	la-related protein 7 isoform 5
NM_001370980.1	NP_001357909.1	la-related protein 7 isoform 5
NM_001370981.1	NP_001357910.1	la-related protein 7 isoform 6
NM_001370982.1	NP_001357911.1	la-related protein 7 isoform 6
NM_015454.3	NP_056269.1	la-related protein 7 isoform 1
NM_016648.4	NP_057732.2	la-related protein 7 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 7SK snRNA binding	IDA IDA: Inferred from direct assay	18249148	GOA
enables U6 snRNA binding	IDA IDA: Inferred from direct assay	32017898	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18281698	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in U6 2'-O-snRNA methylation	IMP IMP: Inferred from mutant phenotype	32017898	GOA
involved in box C/D sno(s)RNA 3'-end processing	IMP IMP: Inferred from mutant phenotype	32017898	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	18483487	GOA
involved in negative regulation of viral transcription	IMP IMP: Inferred from mutant phenotype	18249148	GOA
involved in positive regulation of protein localization to Cajal body	IDA IDA: Inferred from direct assay	28254838	GOA
involved in positive regulation of snRNA transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	28254838	GOA
involved in regulation of mRNA splicing, via spliceosome	IMP IMP: Inferred from mutant phenotype	32017898	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of 7SK snRNP	IDA IDA: Inferred from direct assay	18249148	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28254838	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	19906723	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LARP7 Protein Structure

RRM_1

RRM_3

0
100
200
300
400
500
582 a.a.

Protein Preferred Names

Protein Names

la-related protein 7

La ribonucleoprotein domain family member 7

Related Diseases

Diseases

Alias

Alazami Syndrome

Microcephalic Primordial Dwarfism, Alazami Type	ALAZS
Facial Dysmorphism, Intellectual Disability, And Primordial Dwarfism	Facial Dysmorphism Intellectual Disability And Primordial Dwarfism

Smith-Lemli-Opitz Syndrome

SLOS	Rsh Syndrome
7-Dehydrocholesterol Reductase Deficiency	Slo Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome	Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung	Smith-Opitz-Inborn Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung	Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz Syndrome, Type Ii

Coffin-Siris Syndrome 9

Mrd27	CSS9
Mental Retardation, Autosomal Dominant 27	Autosomal Dominant Mental Retardation 27
Autosomal Dominant Non-Syndromic Intellectual Disability 27	Coffin-Siris Syndrome, Type 9

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07531	LARP7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	LARP7	VGNC	VGNC:42591
Rattus norvegicus	LARP7	RGD	RGD:1592474
Felis catus	LARP7	VGNC	VGNC:63196
Macaca mulatta	LARP7	VGNC	VGNC:74118
Mus musculus	LARP7	MGD	MGI:107634
Bos taurus	LARP7	VGNC	VGNC:30794

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