LARP7 La ribonucleoprotein 7, transcriptional regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: LARP7provided by HGNC
Official Full Name: La ribonucleoprotein 7, transcriptional regulatorprovided by HGNC
Primary source: HGNC:HGNC:24912
See related: Ensembl:ENSG00000174720 MIM:612026; AllianceGenome:HGNC:24912
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALAZS; PIP7S; hLARP7; HDCMA18P
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]
Expression: Ubiquitous expression in lymph node (RPKM 17.7), thyroid (RPKM 16.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q25

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (112637143..112657586)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (115945482..115965926)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (113558299..113578742)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LARP3, LARP7, and MePCE are involved in the early stage of human telomerase RNA biogenesis.
Title: LARP3, LARP7, and MePCE are involved in the early stage of human telomerase RNA biogenesis.
LARP7 ameliorates cellular senescence and aging by allosterically enhancing SIRT1 deacetylase activity.
Title: LARP7 ameliorates cellular senescence and aging by allosterically enhancing SIRT1 deacetylase activity.
Structure of S. pombe telomerase protein Pof8 C-terminal domain is an xRRM conserved among LARP7 proteins.
Title: Structure of S. pombe telomerase protein Pof8 C-terminal domain is an xRRM conserved among LARP7 proteins.
LARP7 Protects Against Heart Failure by Enhancing Mitochondrial Biogenesis.
Title: LARP7 Protects Against Heart Failure by Enhancing Mitochondrial Biogenesis.
Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies.
Title: Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies.
Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.
Title: Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.
Title: Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.
Title: Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.
L ARP7 Is a BRCA1 Ubiquitinase Substrate and Regulates Genome Stability and Tumorigenesis.
Title: L ARP7 Is a BRCA1 Ubiquitinase Substrate and Regulates Genome Stability and Tumorigenesis.
LARP7 functios as a bridging factor for snoRNA-guided modification of the U6 snRNA and alterations in splicing fidelity contribute to the etiology of the Alazami syndrome.
Title: The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Microcephalic primordial dwarfism, Alazami type MedGen: C3554439 OMIM: 615071 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	A La-related protein, LARP7, is associated with P-TEFb, HEXIM1/2, MEPCE, and 7SK RNA in a large stable complex form. Knockdown of LARP7 decreases the steady-state level of 7SK, but increases free P-TEFb and enhances Tat-mediated transcription	PubMed
	tat	HIV-1 Tat forms at least two distinct P-TEFb-containing complexes. Tatcom1 is composed of P-TEFb, AF9, ENL, ELL, AFF1, AFF4, and PAF1, presenting strong CTD-kinase activity, while Tatcom2 consists of 7SK, LARP7, and MEPCE with two molecules of Tat/P-TEFb	PubMed
	tat	HIV-1 Tat complexes with LARP7, MEPCE, SART3, NPM1, PPM1G, hnRNP-F, and 7SK RNA to form a Tat-7SK RNP complex to control HIV-1 transcription	PubMed
	tat	CDK9-CycT1-AFF1 is stimulated by HIV-1 Tat and transferred as a single complex unit to BRD4 upon stress-induced disruption of AFF1-containing 7SK snRNP (HEXIM1, MEPCE, LARP7, 7SK RNA, CDK9, CycT1, and AFF1)	PubMed
	tat	TAR binds Tat and P-TEFb as it emerges on the nascent transcript, competitively displacing the inhibitory 7SK snRNP (HEXIM1 and LARP7) and activating the P-TEFb kinase	PubMed
	tat	HIV-1 Tat is identified to have a physical interaction with La ribonucleoprotein domain family, member 7 (LARP7) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NM_016648 (e-PCR)
- UniSTS:497717

G33497 (e-PCR)
- UniSTS:82306

SHGC-35945 (e-PCR)
- UniSTS:5080

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 7SK snRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables U6 snRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in U6 2'-O-snRNA methylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in box C/D sno(s)RNA 3'-end processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription elongation by RNA polymerase II	IC Inferred by Curator more info	PubMed
involved_in negative regulation of viral transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to Cajal body	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of snRNA transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of 7SK snRNP	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: la-related protein 7

Names: La ribonucleoprotein domain family member 7; P-TEFb-interaction protein for 7SK stability

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032779.1 RefSeqGene

Range

5180..25623

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001267039.4 → NP_001253968.2 la-related protein 7 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript. Variants 1, 2, 3 and 9 encode the same isoform (1).

Source sequence(s)

AC106864

Consensus CDS

CCDS3701.2

UniProtKB/Swiss-Prot

B2ZHN6, Q3B7A9, Q4G0J3, Q9P1S7, Q9Y3Z8

UniProtKB/TrEMBL

A0A8Q3SHF1

Related

ENSP00000422626.2, ENST00000509061.5

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 300

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 (RRM1) found in La-related protein 7 (LARP7) and similar proteins

cd12542
Location:454 → 535

RRM2_LARP7; RNA recognition motif 2 in La-related protein 7 (LARP7) and similar proteins
NM_001370974.1 → NP_001357903.1 la-related protein 7 isoform 3

Status: REVIEWED

Source sequence(s)

AC106864

Consensus CDS

CCDS93568.1

UniProtKB/TrEMBL

A0A8Q3SHG9, A0A8Q3SHN7

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 300

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 in La-related protein 7 (LARP7) and similar proteins

pfam08777
Location:467 → 565

RRM_3; RNA binding motif
NM_001370975.1 → NP_001357904.1 la-related protein 7 isoform 3

Status: REVIEWED

Source sequence(s)

AC106864

Consensus CDS

CCDS93568.1

UniProtKB/TrEMBL

A0A8Q3SHG9, A0A8Q3SHN7

Related

ENSP00000511576.1, ENST00000694898.1

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 300

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 in La-related protein 7 (LARP7) and similar proteins

pfam08777
Location:467 → 565

RRM_3; RNA binding motif
NM_001370976.1 → NP_001357905.1 la-related protein 7 isoform 4

Status: REVIEWED

Source sequence(s)

AC106864

Consensus CDS

CCDS93569.1

UniProtKB/TrEMBL

A0A8Q3SHG9, H0YA82

Related

ENSP00000426376.2, ENST00000511529.2

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 299

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 in La-related protein 7 (LARP7) and similar proteins

pfam08777
Location:466 → 564

RRM_3; RNA binding motif
NM_001370977.1 → NP_001357906.1 la-related protein 7 isoform 4

Status: REVIEWED

Source sequence(s)

AC106864

Consensus CDS

CCDS93569.1

UniProtKB/TrEMBL

A0A8Q3SHG9, H0YA82

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 299

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 in La-related protein 7 (LARP7) and similar proteins

pfam08777
Location:466 → 564

RRM_3; RNA binding motif
NM_001370978.1 → NP_001357907.1 la-related protein 7 isoform 1

Status: REVIEWED

Source sequence(s)

AC106864

Consensus CDS

CCDS3701.2

UniProtKB/Swiss-Prot

B2ZHN6, Q3B7A9, Q4G0J3, Q9P1S7, Q9Y3Z8

UniProtKB/TrEMBL

A0A8Q3SHF1

Related

ENSP00000499190.1, ENST00000651579.1

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 300

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 (RRM1) found in La-related protein 7 (LARP7) and similar proteins

cd12542
Location:454 → 535

RRM2_LARP7; RNA recognition motif 2 in La-related protein 7 (LARP7) and similar proteins
NM_001370979.1 → NP_001357908.1 la-related protein 7 isoform 5

Status: REVIEWED

Source sequence(s)

AC106864

Consensus CDS

CCDS93570.1

UniProtKB/TrEMBL

A0A8Q3SHF1, A0A8Q3SHH4

Related

ENSP00000511571.1, ENST00000694891.1

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 299

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 in La-related protein 7 (LARP7) and similar proteins

pfam08777
Location:453 → 551

RRM_3; RNA binding motif
NM_001370980.1 → NP_001357909.1 la-related protein 7 isoform 5

Status: REVIEWED

Source sequence(s)

AC106864

Consensus CDS

CCDS93570.1

UniProtKB/TrEMBL

A0A8Q3SHF1, A0A8Q3SHH4

Related

ENSP00000511577.1, ENST00000694899.1

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 299

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 in La-related protein 7 (LARP7) and similar proteins

pfam08777
Location:453 → 551

RRM_3; RNA binding motif
NM_001370981.1 → NP_001357910.1 la-related protein 7 isoform 6

Status: REVIEWED

Source sequence(s)

AC106864

Consensus CDS

CCDS93571.1

UniProtKB/TrEMBL

A0A8I5KUI4, A0A8Q3SHF1

Related

ENSP00000508585.1, ENST00000693375.1

Conserved Domains (4) summary

COG0724
Location:38 → 221

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:47 → 126

RRM1_LARP7; RNA recognition motif 1 in La-related protein 7 (LARP7) and similar proteins

pfam08777
Location:375 → 473

RRM_3; RNA binding motif

cl02755
Location:1 → 32

LAM; LA motif RNA-binding domain
NM_001370982.1 → NP_001357911.1 la-related protein 7 isoform 6

Status: REVIEWED

Source sequence(s)

AC106864

Consensus CDS

CCDS93571.1

UniProtKB/TrEMBL

A0A8I5KUI4, A0A8Q3SHF1

Related

ENSP00000509527.1, ENST00000692416.1

Conserved Domains (4) summary

COG0724
Location:38 → 221

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:47 → 126

RRM1_LARP7; RNA recognition motif 1 in La-related protein 7 (LARP7) and similar proteins

pfam08777
Location:375 → 473

RRM_3; RNA binding motif

cl02755
Location:1 → 32

LAM; LA motif RNA-binding domain
NM_015454.3 → NP_056269.1 la-related protein 7 isoform 1

See identical proteins and their annotated locations for NP_056269.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks a 5' exon compared to variant 3. These differences cause translation initiation at a downstream AUG and result in a protein (isoform 1) with a shorter N-terminus compared to isoform 2. Variants 1, 2, and 9 encode the same protein (isoform 1).

Source sequence(s)

AL049996, BM979591, CA314598, CN346208

Consensus CDS

CCDS3701.2

UniProtKB/Swiss-Prot

B2ZHN6, Q3B7A9, Q4G0J3, Q9P1S7, Q9Y3Z8

UniProtKB/TrEMBL

A0A8Q3SHF1

Related

ENSP00000421541.2, ENST00000505034.6

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 300

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 (RRM1) found in La-related protein 7 (LARP7) and similar proteins

cd12542
Location:454 → 535

RRM2_LARP7; RNA recognition motif 2 in La-related protein 7 (LARP7) and similar proteins
NM_016648.4 → NP_057732.2 la-related protein 7 isoform 1

See identical proteins and their annotated locations for NP_057732.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks two 5' exons compared to variant 3. These differences cause translation initiation at a downstream AUG and result in a protein (isoform 1) with a shorter N-terminus compared to isoform 2. Variants 1, 2, and 9 encode the same protein (isoform 1).

Source sequence(s)

AC106864, AK000274, AL049996, DB270203

Consensus CDS

CCDS3701.2

UniProtKB/Swiss-Prot

B2ZHN6, Q3B7A9, Q4G0J3, Q9P1S7, Q9Y3Z8

UniProtKB/TrEMBL

A0A8Q3SHF1

Related

ENSP00000344950.5, ENST00000344442.10

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 300

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 (RRM1) found in La-related protein 7 (LARP7) and similar proteins

cd12542
Location:454 → 535

RRM2_LARP7; RNA recognition motif 2 in La-related protein 7 (LARP7) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

112637143..112657586

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047415769.1 → XP_047271725.1 la-related protein 7 isoform X1

UniProtKB/TrEMBL

A0A8Q3SHG9, A0A8Q3SHN7
XM_047415771.1 → XP_047271727.1 la-related protein 7 isoform X2

UniProtKB/Swiss-Prot

B2ZHN6, Q3B7A9, Q4G0J3, Q9P1S7, Q9Y3Z8

UniProtKB/TrEMBL

A0A8Q3SHF1
XM_024454083.2 → XP_024309851.1 la-related protein 7 isoform X1

UniProtKB/TrEMBL

A0A8Q3SHG9, A0A8Q3SHN7

Conserved Domains (4) summary

cd08032
Location:30 → 111

LARP_7; La RNA-binding domain of La-related protein 7

COG0724
Location:117 → 300

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12290
Location:126 → 205

RRM1_LARP7; RNA recognition motif 1 in La-related protein 7 (LARP7) and similar proteins

pfam08777
Location:467 → 565

RRM_3; RNA binding motif
XM_047415770.1 → XP_047271726.1 la-related protein 7 isoform X2

UniProtKB/Swiss-Prot

B2ZHN6, Q3B7A9, Q4G0J3, Q9P1S7, Q9Y3Z8

UniProtKB/TrEMBL

A0A8Q3SHF1
XM_047415768.1 → XP_047271724.1 la-related protein 7 isoform X1

UniProtKB/TrEMBL

A0A8Q3SHG9, A0A8Q3SHN7