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Aliases for LARP7 Gene

Aliases for LARP7 Gene

  • La Ribonucleoprotein Domain Family, Member 7 2 3
  • P-TEFb-Interaction Protein For 7SK Stability 2 3 4
  • PIP7S 3 4 6
  • ALAZS 3 6
  • La Ribonucleoprotein Domain Family Member 7 4
  • La-Related Protein 7 3
  • HDCMA18P 3

External Ids for LARP7 Gene

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 microcephalic primordial dwarfism, alazami type. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is SSB.

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.

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

Genomics for LARP7 Gene

Genomic Location for LARP7 Gene

Start:
112,636,964 bp from pter
End:
112,657,592 bp from pter
Size:
20,629 bases
Orientation:
Plus strand

Genomic View for LARP7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LARP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LARP7 Gene

Regulatory Elements 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};

    Alternative splice isoforms for LARP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LARP7 Gene

Proteomics data for LARP7 Gene at MOPED

Post-translational modifications for LARP7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LARP7 Gene

Domains for LARP7 Gene

Gene Families for LARP7 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing
  • LARP :La ribonucleoprotein domain containing

UniProtKB/Swiss-Prot:

LARP7_HUMAN
Domain:
  • Contains 1 HTH La-type RNA-binding domain.:
    • Q4G0J3
  • Contains 1 RRM (RNA recognition motif) domain.:
    • Q4G0J3
genes like me logo Genes that share domains with LARP7: view

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.

Gene Ontology (GO) - Molecular Function for LARP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding --
GO:0005515 protein binding IPI 18483487
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with LARP7: view
genes like me logo Genes that share phenotypes with LARP7: view

Animal Models for LARP7 Gene

MGI Knock Outs for LARP7:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for LARP7 Gene COMPARTMENTS Subcellular localization image for LARP7 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for LARP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0030529 ribonucleoprotein complex IEA --
genes like me logo Genes that share ontologies with LARP7: view

Pathways 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 for LARP7 Gene

Transcripts for LARP7 Gene

Unigene Clusters for LARP7 Gene

La ribonucleoprotein domain family, member 7:
Representative Sequences:

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 for LARP7 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LARP7 Gene

SOURCE GeneReport for Unigene cluster for LARP7 Gene Hs.713663

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

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 36
  • 99.38 (n)
  • 99.32 (a)
LARP7 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LARP7 36
  • 83.16 (n)
  • 82.69 (a)
LARP7 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LARP7 36
  • 87.45 (n)
  • 88.24 (a)
LARP7 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm12666 37
  • 76 (a)
OneToMany
Larp7 36
  • 81.81 (n)
  • 83.7 (a)
Larp7 16
Larp7 37
  • 82 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia LARP7 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LARP7 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Larp7 36
  • 79.79 (n)
  • 83.52 (a)
chicken
(Gallus gallus)
Aves LARP7 36
  • 73.13 (n)
  • 73.53 (a)
LARP7 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LARP7 37
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13044 36
tropical clawed frog
(Silurana tropicalis)
Amphibia larp7 36
  • 67.1 (n)
  • 64.02 (a)
Str.6238 36
zebrafish
(Danio rerio)
Actinopterygii larp7 36
  • 58.59 (n)
  • 57.95 (a)
larp7 37
  • 54 (a)
OneToOne
wufa10g04 36
fruit fly
(Drosophila melanogaster)
Insecta CG42569 37
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LHP1 37
  • 25 (a)
OneToMany
Species with no ortholog for LARP7:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs1129065 -- 112,657,453(+) TTCCT(C/T)AACTT utr-variant-3-prime, nc-transcript-variant
rs4383675 -- 112,651,463(+) GAGAC(A/G)GCTGA intron-variant
rs4478247 -- 112,641,158(+) cactt(C/T)gggag intron-variant
rs4498194 -- 112,654,340(+) GTATG(A/T)AATTG intron-variant
rs5861107 -- 112,646,005(+) TTTTG(-/TT)TTTGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv525715 CNV Loss 19592680

Relevant External Links for LARP7 Gene

HapMap Linkage Disequilibrium report
LARP7
Human Gene Mutation Database (HGMD)
LARP7

Disorders for LARP7 Gene

(1) OMIM Diseases for LARP7 Gene (612026)

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.

Relevant External Links for LARP7

Genetic Association Database (GAD)
LARP7
Human Genome Epidemiology (HuGE) Navigator
LARP7
genes like me logo Genes that share disorders with LARP7: view

Publications for LARP7 Gene

  1. A La-related protein modulates 7SK snRNP integrity to suppress P- TEFb-dependent transcriptional elongation and tumorigenesis. (PMID: 18249148) He N. … Zhou Q. (Mol. Cell 2008) 2 3 4
  2. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. (PMID: 22865833) Alazami A.M. … Alkuraya F.S. (Hum. Mutat. 2012) 2 3 4
  3. LARP7 is a stable component of the 7SK snRNP while P-TEFb, HEXIM1 and hnRNP A1 are reversibly associated. (PMID: 18281698) Krueger B.J. … Price D.H. (Nucleic Acids Res. 2008) 2 3
  4. 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 Rep. 2008) 3 4
  5. 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 B.P. (Hum. Mol. Genet. 2010) 3 49

Products for LARP7 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Polycomb & Trithorax Complexes in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate LARP7
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for LARP7
  • Block miRNA regulation of LARP7 using miScript Target Protectors

Sources for LARP7 Gene

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