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Aliases for LARP7 Gene

Aliases for LARP7 Gene

  • La Ribonucleoprotein Domain Family Member 7 2 3 4 5
  • P-TEFb-Interaction Protein For 7SK Stability 2 3 4
  • PIP7S 3 4
  • La Ribonucleoprotein Domain Family, Member 7 2
  • La-Related Protein 7 3
  • HDCMA18P 3
  • ALAZS 3

External Ids for LARP7 Gene

Previous GeneCards Identifiers for LARP7 Gene

  • GC04P113777
  • GC04P113559
  • GC04P109286

Summaries for LARP7 Gene

Entrez Gene Summary for LARP7 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 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]

GeneCards Summary for LARP7 Gene

LARP7 (La Ribonucleoprotein Domain Family Member 7) is a Protein Coding gene. Diseases associated with LARP7 include Alazami Syndrome and Bowen-Conradi Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is LARP6.

UniProtKB/Swiss-Prot for LARP7 Gene

  • 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.

Additional gene information for LARP7 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LARP7 Gene

Genomics for LARP7 Gene

GeneHancer (GH) Regulatory Elements for LARP7 Gene

Promoters and enhancers for LARP7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I112636 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 556.7 +0.2 232 2.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 ZGRF1 LARP7 LOC105377372 LOC109864269 ENSG00000250966 MIR367 GC04M112615
GH04I112635 Enhancer 0.3 Ensembl 550.8 -1.7 -1663 0.2 MLLT1 LARP7 ZGRF1 GC04M112615 GC04P112588
GH04I112230 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 -404.9 -404928 3.7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 AP1AR ENSG00000260526 TIFA LOC109864269 ZGRF1 LARP7 ENSG00000272567
GH04I112704 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 11.2 +69.1 69072 2.9 PKNOX1 ZNF2 GLIS2 KLF7 SP3 REST ZNF610 GLIS1 SP7 KLF1 ENSG00000250046 LOC109864269 MIR302A MIR302C MIR302D MIR367 LARP7 RPL7AP30 ZGRF1 WRBP1
GH04I112761 Enhancer 1 Ensembl ENCODE dbSUPER 11.8 +125.9 125898 2.1 CTCF ZNF654 L3MBTL2 TEAD1 NR2F1 TEAD4 TRIM22 ZNF223 REST RAD21 ZGRF1 LARP7 ENSG00000202536 GC04M112756 GC04M112789
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LARP7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LARP7 gene promoter:

Genomic Locations for LARP7 Gene

Genomic Locations for LARP7 Gene
chr4:112,636,964-112,657,592
(GRCh38/hg38)
Size:
20,629 bases
Orientation:
Plus strand
chr4:113,558,120-113,578,748
(GRCh37/hg19)

Genomic View for LARP7 Gene

Genes around LARP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LARP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LARP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LARP7 Gene

Proteins for LARP7 Gene

  • Protein details for LARP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G0J3-LARP7_HUMAN
    Recommended name:
    La-related protein 7
    Protein Accession:
    Q4G0J3
    Secondary Accessions:
    • B2ZHN6
    • Q3B7A9
    • Q9P1S7
    • Q9Y3Z8

    Protein attributes for LARP7 Gene

    Size:
    582 amino acids
    Molecular mass:
    66899 Da
    Quaternary structure:
    • Integral part of the 7SK RNP complex. 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.
    SequenceCaution:
    • Sequence=AAH66945.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LARP7 Gene

    Alternative splice isoforms for LARP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LARP7 Gene

Post-translational modifications for LARP7 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LARP7 Gene

Domains & Families for LARP7 Gene

Gene Families for LARP7 Gene

Suggested Antigen Peptide Sequences for LARP7 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LARP7: view

No data available for UniProtKB/Swiss-Prot for LARP7 Gene

Function for LARP7 Gene

Molecular function for LARP7 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for LARP7 Gene

Gene Ontology (GO) - Molecular Function for LARP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22658674
GO:0005515 protein binding IPI 18483487
genes like me logo Genes that share ontologies with LARP7: view
genes like me logo Genes that share phenotypes with LARP7: view

Human Phenotype Ontology for LARP7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LARP7 Gene

MGI Knock Outs for LARP7:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for LARP7 Gene

Localization for LARP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LARP7 Gene

Nucleus, nucleoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LARP7 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LARP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IEA,IDA --
GO:0005829 cytosol IDA --
GO:0030529 intracellular ribonucleoprotein complex IEA --
genes like me logo Genes that share ontologies with LARP7: view

Pathways & Interactions for LARP7 Gene

SuperPathways for LARP7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LARP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing IEA --
genes like me logo Genes that share ontologies with LARP7: view

No data available for Pathways by source and SIGNOR curated interactions for LARP7 Gene

Drugs & Compounds for LARP7 Gene

No Compound Related Data Available

Transcripts for LARP7 Gene

Unigene Clusters for LARP7 Gene

La ribonucleoprotein domain family, member 7:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LARP7 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for LARP7 Gene

GeneLoc Exon Structure for
LARP7
ECgene alternative splicing isoforms for
LARP7

Expression for LARP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LARP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LARP7 Gene

This gene is overexpressed in Cerebrospinal fluid (22.3), Lung (14.3), and Peripheral blood mononuclear cells (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LARP7 Gene



Protein tissue co-expression partners for LARP7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LARP7 Gene:

LARP7

SOURCE GeneReport for Unigene cluster for LARP7 Gene:

Hs.713663

Evidence on tissue expression from TISSUES for LARP7 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Lymph node(4.3)
  • Spleen(4.3)
  • Blood(4.2)
  • Lung(3.1)
  • Skin(2.8)
  • Kidney(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LARP7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • lip
  • maxilla
  • mouth
  • nose
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with LARP7: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LARP7 Gene

Orthologs for LARP7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LARP7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LARP7 33 34
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia LARP7 33 34
  • 87.45 (n)
cow
(Bos Taurus)
Mammalia LARP7 33 34
  • 83.16 (n)
mouse
(Mus musculus)
Mammalia Larp7 33 16 34
  • 81.81 (n)
Gm12666 34
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Larp7 33
  • 79.79 (n)
oppossum
(Monodelphis domestica)
Mammalia LARP7 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LARP7 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves LARP7 33 34
  • 73.13 (n)
lizard
(Anolis carolinensis)
Reptilia LARP7 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia larp7 33
  • 67.1 (n)
Str.6238 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13044 33
zebrafish
(Danio rerio)
Actinopterygii larp7 33 34
  • 58.59 (n)
wufa10g04 33
fruit fly
(Drosophila melanogaster)
Insecta CG42569 34
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LHP1 34
  • 25 (a)
OneToMany
Species where no ortholog for LARP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LARP7 Gene

ENSEMBL:
Gene Tree for LARP7 (if available)
TreeFam:
Gene Tree for LARP7 (if available)

Paralogs for LARP7 Gene

Paralogs for LARP7 Gene

(4) SIMAP similar genes for LARP7 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with LARP7: view

Variants for LARP7 Gene

Sequence variations from dbSNP and Humsavar for LARP7 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1057519017 pathogenic, Alazami syndrome 112,647,715(+) AAAGGATA/AAAGGATAAAGGATA coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057519297 pathogenic, Alazami syndrome 112,646,357(+) ATATAT/ATATATAT coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1060499762 likely-pathogenic, Abnormality of brain morphology 112,647,384(+) A/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs756894838 pathogenic, Alazami syndrome 112,647,197(+) AGAAGAGAAGA/AGAAGA coding_sequence_variant, non_coding_transcript_variant, splice_acceptor_variant
rs1085307744 pathogenic, not provided 112,646,446(+) G/GG coding_sequence_variant, frameshift, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LARP7 Gene

Variant ID Type Subtype PubMed ID
nsv1006030 CNV gain 25217958
nsv1014926 CNV gain 25217958
nsv525715 CNV loss 19592680

Variation tolerance for LARP7 Gene

Residual Variation Intolerance Score: 66.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.84; 73.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LARP7 Gene

Human Gene Mutation Database (HGMD)
LARP7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LARP7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LARP7 Gene

Disorders for LARP7 Gene

MalaCards: The human disease database

(5) MalaCards diseases for LARP7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alazami syndrome
  • alazs
bowen-conradi syndrome
  • bwcns
med23
  • autosomal recessive nonsyndromic mental retardation-18
pitt-hopkins syndrome
  • pths
isolated growth hormone deficiency, type ia
  • ighd1a
- elite association - COSMIC cancer census association via MalaCards
Search LARP7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LARP7_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LARP7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LARP7: view

No data available for Genatlas for LARP7 Gene

Publications for LARP7 Gene

  1. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. (PMID: 22865833) Alazami AM … Alkuraya FS (Human mutation 2012) 2 3 4 58
  2. A La-related protein modulates 7SK snRNP integrity to suppress P-TEFb-dependent transcriptional elongation and tumorigenesis. (PMID: 18249148) He N … Zhou Q (Molecular cell 2008) 2 3 4 58
  3. LARP7 is a potential tumor suppressor gene in gastric cancer. (PMID: 22488152) Cheng Y … Mori Y (Laboratory investigation; a journal of technical methods and pathology 2012) 2 3 58
  4. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 44 58
  5. The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes. (PMID: 18483487) Markert A … Fischer U (EMBO reports 2008) 3 4 58

Products for LARP7 Gene

Sources for LARP7 Gene

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