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LARP7 Gene

protein-coding   GIFtS: 49
GCID: GC04P113559

La Ribonucleoprotein Domain Family, Member 7

  See LARP7-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
La Ribonucleoprotein Domain Family, Member 71 2
P-TEFb-Interaction Protein For 7SK Stability1 2 3
PIP7S2 3 5
ALAZS2 5
La-Related Protein 72
La Ribonucleoprotein Domain Family Member 73

External Ids:    HGNC: 249121   Entrez Gene: 515742   Ensembl: ENSG000001747207   OMIM: 6120265   UniProtKB: Q4G0J33   

Export aliases for LARP7 gene to outside databases

Previous GC identifers: GC04P113777 GC04P109286


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cardiomyopathy, familial hypertrophic 6. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is SSB.

UniProtKB/Swiss-Prot: LARP7_HUMAN, Q4G0J3
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the LARP7 gene promoter:
         E2F-4   E2F-3a   E2F   E2F-1   FOXO4   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): LARP7 promoter sequence
   Search Chromatin IP Primers for LARP7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LARP7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q25   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q25

LARP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LARP7 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P113559:  view genomic region     (about GC identifiers)

Start:
113,558,120 bp from pter      End:
113,578,748 bp from pter
Size:
20,629 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LARP7_HUMAN, Q4G0J3 (See protein sequence)
Recommended Name: La-related protein 7  
Size: 582 amino acids; 66899 Da
Subunit: 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
Sequence caution: Sequence=AAH66945.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2ZHN6 Q3B7A9 Q9P1S7 Q9Y3Z8
Alternative splicing: 3 isoforms:  Q4G0J3-1   Q4G0J3-2   Q4G0J3-3   

Explore the universe of human proteins at neXtProt for LARP7: NX_Q4G0J3

Explore proteomics data for LARP7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LARP7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001253968.1  NP_056269.1  NP_057732.2  

    ENSEMBL proteins: 
     ENSP00000344950   ENSP00000426709   ENSP00000422626   ENSP00000422451   ENSP00000426646  
     ENSP00000422013   ENSP00000421541   ENSP00000424116   ENSP00000421963   ENSP00000426376  
     ENSP00000314311  

    LARP7 Human Recombinant Protein Products:

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    Novus Biologicals LARP7 Protein
    Novus Biologicals LARP7 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LARP7

     
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    Search eBioscience for ELISAs for LARP7 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    LARP: La ribonucleoprotein domain containing
    RBM: RNA binding motif (RRM) containing

    Selected InterPro protein domains (see all 6):
     IPR006630 Lupus_La_RNA-bd
     IPR011991 WHTH_DNA-bd_dom
     IPR002344 Lupus_La
     IPR014886 RRM_3
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q4G0J3

    ProtoNet protein and cluster: Q4G0J3

    1 Blocks protein domain: IPB002344 Lupus La protein signature

    UniProtKB/Swiss-Prot: LARP7_HUMAN, Q4G0J3
    Similarity: Contains 1 HTH La-type RNA-binding domain
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    Find genes that share domains with LARP7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LARP7_HUMAN, Q4G0J3
    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI18483487
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with LARP7           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Larp7):
     cellular  embryogenesis  growth/size/body  mortality/aging  nervous system 
     reproductive system 

    Find genes that share phenotypes with LARP7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Larp7tm1Ymat for LARP7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LARP7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LARP7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LARP7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LARP7

    miRNA
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    Block miRNA regulation of human, mouse, rat LARP7 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate LARP7:
    hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidLARP7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LARP7
    Predesigned siRNA for gene silencing in human, mouse, rat LARP7

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for LARP7

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): LARP7 (NM_016648)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LARP7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LARP7

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for LARP7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LARP7


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LARP7_HUMAN, Q4G0J3: Nucleus, nucleoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--

    Find genes that share ontologies with LARP7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including LARP7: 
              Polycomb & Trithorax Complexes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LARP7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LARP7 (Q4G0J31, 2, 3 ENSP000003143114) via UniProtKB, MINT, STRING, and/or I2D (see all 226)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK9P507501, 2, 3, ENSP000003623614EBI-2371923,EBI-1383449 MINT-6629492 MINT-6629521 MINT-6629505 MINT-6629599 MINT-6629464 MINT-6629479 MINT-6629534 I2D: score=2 STRING: ENSP00000362361
    HEXIM1O949921, 2, 3, ENSP000003287734EBI-2371923,EBI-2832510 MINT-6629492 MINT-6629521 MINT-6629505 MINT-6629464 MINT-6629479 MINT-6629588 MINT-6629534 I2D: score=1 STRING: ENSP00000328773
    PRPF40AO754002, 3MINT-8267468 I2D: score=2 
    CCNT1O605632, ENSP000002619004MINT-6629492 MINT-6629521 MINT-6629505 MINT-6629464 MINT-6629479 MINT-6629534 STRING: ENSP00000261900
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006396RNA processing IEA--

    Find genes that share ontologies with LARP7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LARP7



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LARP7 gene (3 alternative transcripts): 
    NM_001267039.1  NM_015454.2  NM_016648.3  

    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344442(uc003iay.3 uc003iba.3) ENST00000512589 ENST00000509061(uc003iaz.3)
    ENST00000509622 ENST00000508577 ENST00000513553 ENST00000504079 ENST00000505034
    ENST00000505216 ENST00000507443 ENST00000503316 ENST00000511529 ENST00000512361
    ENST00000503898 ENST00000324052(uc003ibb.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LARP7 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate LARP7:
    hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidLARP7 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for LARP7
    Predesigned siRNA for gene silencing in human, mouse, rat LARP7
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): LARP7 (NM_016648)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LARP7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LARP7
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for LARP7
    OriGene qSTAR qPCR primer pairs in human, mouse for LARP7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LARP7
      QuantiTect SYBR Green Assays in human, mouse, rat LARP7
      QuantiFast Probe-based Assays in human, mouse, rat LARP7

    Selected AceView cDNA sequences (see all 246):

    BF431557 AV690215 AV692449 AI655849 N64387 AA046775 BE221466 AW572380 
    BM311762 BG431297 AV689069 AW589864 BX647100 AW172889 AI004357 AI670112 
    AW082329 AI767841 AW339069 AI742269 CB122680 CA420422 AA741383 BQ048930 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LARP7 (see all 6)    About this scheme

    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:                                                                                                                        


    ECgene alternative splicing isoforms for LARP7

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LARP7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACACAAGCA
    LARP7 Expression
    About this image

    LARP7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LARP7 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including LARP7: 
              Polycomb & Trithorax Complexes in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat LARP7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LARP7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for LARP7 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Larp71 , 5 La ribonucleoprotein domain family, member 71, 5 81.81(n)1
    83.7(a)1
      3 (56.54 cM)5
    280361  NM_138593.21  NP_613059.21 
     1275369545 
    chicken
    (Gallus gallus)
    Aves LARP71 La ribonucleoprotein domain family, member 7 73.13(n)
    73.53(a)
      422690  XM_420643.4  XP_420643.3 
    lizard
    (Anolis carolinensis)
    Reptilia LARP76
    La ribonucleoprotein domain family, member 7
    67(a)
    1 ↔ 1
    5(142951357-142979538)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.130442 Xenopus laevis transcribed sequence with weak similarity more 78.33(n)    BJ093043.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa10g042 wufa10g04 71.02(n)   334956  BC049455.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG425696
    --
    23(a)
    1 ↔ 1
    X(9137811-9139958)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LHP16
    RNA binding protein required for maturation of tRN...
    25(a)
    1 → many
    IV(363952-364779) YDL051W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LARP7 gene
    SSB2  
    4 SIMAP similar genes for LARP7 using alignment to 9 protein entries:     LARP7_HUMAN (see all proteins):
    LARP1B    LARP1    LARP4    SSB

    Find genes that share paralogs with LARP7           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for LARP7 (see all 6)
    PGOHUM00000248749 PGOHUM00000235095 PGOHUM00000244394 PGOHUM00000250309 PGOHUM00000243832


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LARP7 (see all 491)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1828388711,2
    --113351152(+) CTCTAC/TTAAAA 3 -- us2k10--------
    rs1883617161,2
    --113351277(+) CGCCAA/CTGCAC 3 -- us2k10--------
    rs1120561631,2
    F--113351325(+) AAAAAG/AAAAAA 3 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs1903674711,2
    --113351370(+) CCTCCA/GGCGTA 3 -- us2k10--------
    rs1822402151,2
    --113351372(+) TCCGGC/TGTACA 3 -- us2k10--------
    rs1869490961,2
    --113351423(+) AGATCA/GAGAAA 3 -- us2k10--------
    rs1494724751,2
    --113351507(+) AATTAC/TTAATA 3 -- us2k10--------
    rs1925140471,2
    --113351600(+) CTGTTA/GGCTTT 3 -- us2k10--------
    rs68453801,2
    C,F,A,H--113351689(+) CGCTGT/CGGCCT 4 -- us2k16Minor allele frequency- C:0.25NA CSA WA EA 363
    rs1857023091,2
    --113351806(+) TATAAC/TATATA 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for LARP7 (113558120 - 113578748 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LARP7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv525715CNV Loss19592680

    Human Gene Mutation Database (HGMD): LARP7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LARP7
    DNA2.0 Custom Variant and Variant Library Synthesis for LARP7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612026   
    OMIM disorders: 615071  
    UniProtKB/Swiss-Prot: LARP7_HUMAN, Q4G0J3
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 2 diseases for LARP7:    
    About MalaCards
    alazami syndrome    cardiomyopathy, familial hypertrophic 6


    Find genes that share disorders with LARP7           About GenesLikeMe

    Genetic Association Database (GAD): LARP7
    Human Genome Epidemiology (HuGE) Navigator: LARP7 (1 document)

    Export disorders for LARP7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LARP7 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with LARP7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. (PubMed id 22865833)1, 2, 3 Alazami A.M.... Alkuraya F.S. (Hum. Mutat. 2012)
    2. A La-related protein modulates 7SK snRNP integrity to suppress P- TEFb-dependent transcriptional elongation and tumorigenesis. (PubMed id 18249148)1, 2, 3 He N.... Zhou Q. (Mol. Cell 2008)
    3. LARP7 is a potential tumor suppressor gene in gastric cancer. (PubMed id 22488152)1, 3 Cheng Y....Mori Y. ( a journal of technical methods and pathology 2012)
    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. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (Hum. Mol. Genet. 2010)
    5. LARP7 is a stable component of the 7SK snRNP while P-TEFb, HEXIM1 and hnRNP A1 are reversibly associated. (PubMed id 18281698)1, 3 Krueger B.J....Price D.H. (Nucleic Acids Res. 2008)
    6. Gene expression in early stage cervical cancer. (PubMed id 18191186)1, 3 Biewenga P....Baas F. (Gynecol. Oncol. 2008)
    7. The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes. (PubMed id 18483487)1, 2 Markert A.... Fischer U. (EMBO Rep. 2008)
    8. Conservation of RNA chaperone activity of the human La-related proteins 4, 6 and 7. (PubMed id 23887937)1 Hussain R.H....Bayfield M.A. (Nucleic Acids Res. 2013)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51574 HGNC: 24912 AceView: HDCMA18P Ensembl:ENSG00000174720 euGenes: HUgn51574
    ECgene: LARP7 H-InvDB: LARP7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LARP7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LARP7 gene:
    Search GeneIP for patents involving LARP7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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