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SRP72 Gene

protein-coding   GIFtS: 61
GCID: GC04P057334

Signal Recognition Particle 72kDa

(Previous name: signal recognition particle 72kD)
  See SRP72-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
Signal Recognition Particle 72kDa1 2     HEL1032
Signal Recognition Particle 72 KDa Protein2 3     Epididymis Luminal Protein 1032
Signal Recognition Particle 72kD1     Signal Recognition Particle Subunit SRP722
BMFF2     BMFS15

External Ids:    HGNC: 113031   Entrez Gene: 67312   Ensembl: ENSG000001747807   OMIM: 6021225   UniProtKB: O760943   

Export aliases for SRP72 gene to outside databases

Previous GC identifers: GC04P057137 GC04P057295 GC04P057249 GC04P057174 GC04P057028 GC04P053287


(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 SRP72 Gene:
This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that
mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S
RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers
or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal
recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations
in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jun 2012)

GeneCards Summary for SRP72 Gene:
SRP72 (signal recognition particle 72kDa) is a protein-coding gene. Diseases associated with SRP72 include bone marrow failure syndrome 1, and bone marrow failure, familial. GO annotations related to this gene include 7S RNA binding and signal recognition particle binding.

UniProtKB/Swiss-Prot: SRP72_HUMAN, O76094
Function: Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough
endoplasmic reticulum membrane. Binds the 7S RNA only in presence of SRP68. This ribonucleoprotein complex might
interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest
function




(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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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_022853.16  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SRP72 gene promoter:
         AML1a   GATA-3   ATF-2   GATA-2   GATA-1   POU2F1a   Sox9   FOXO1a   FOXO1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRP72 promoter sequence
   Search Chromatin IP Primers for SRP72

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SRP72


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

Entrez Gene cytogenetic band: 4q11   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q11

SRP72 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRP72 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P057334:  view genomic region     (about GC identifiers)

Start:
57,333,081 bp from pter      End:
57,369,847 bp from pter
Size:
36,767 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: SRP72_HUMAN, O76094 (See protein sequence)
Recommended Name: Signal recognition particle subunit SRP72  
Size: 671 amino acids; 74606 Da
Subunit: Signal recognition particle consists of a 7S RNA molecule of 300 nucleotides and six protein subunits:
SRP72, SRP68, SRP54, SRP19, SRP14 and SRP9
Sequence caution: Sequence=CAD97950.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAD97950.1; Type=Frameshift; Positions=565;
Secondary accessions: G5E9Z8 Q7Z3C0
Alternative splicing: 2 isoforms:  O76094-1   O76094-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SRP72: NX_O76094

Explore proteomics data for SRP72 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys62, Lys73, Lys84, Lys112, Lys325, Lys383, Lys391, Lys475, Lys504, Lys569
  • Modification sites at PhosphoSitePlus

  • See SRP72 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001254651.1  NP_008878.3  

    ENSEMBL proteins: 
     ENSP00000342181   ENSP00000424576   ENSP00000473576   ENSP00000425190  
    Reactome Protein details: O76094

    SRP72 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SRP72

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TTC: Tetratricopeptide (TTC) repeat domain containing

    Selected InterPro protein domains (see all 6):
     IPR001440 TPR_1
     IPR011990 TPR-like_helical
     IPR013699 Signal_recog_part_SRP72_RNA-bd
     IPR026270 SRP72
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry O76094

    ProtoNet protein and cluster: O76094

    1 Blocks protein domain: IPB013699 SRP72 RNA-binding

    UniProtKB/Swiss-Prot: SRP72_HUMAN, O76094
    Domain: The C-terminus is essential for the interaction with the SRP68/7S RNA complex (By similarity)
    Similarity: Belongs to the SRP72 family
    Similarity: Contains 5 TPR repeats


    Find genes that share domains with SRP72           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: SRP72_HUMAN, O76094
    Function: Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough
    endoplasmic reticulum membrane. Binds the 7S RNA only in presence of SRP68. This ribonucleoprotein complex might
    interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest
    function

         Genatlas biochemistry entry for SRP72:
    signal recognition particle,72kDa,inconsistant localisation,except if the gene on chromosome 18 is a novel gene
    resulting from transplicing from CAMK2G on chromosome 10 and SRP72 on chroumosome 1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005047signal recognition particle binding IPI17254600
    GO:0005515protein binding ----
    GO:00083127S RNA binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with SRP72           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for SRP72:
     Decreased G3BP1 protein expres  Decreased nuclei size in G2M  Increased viability with TRAIL  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SRP72
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    miRNA
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    hsa-mir-1229-3p (MIRT036345), hsa-mir-16-5p (MIRT031562)

    Block miRNA regulation of human, mouse, rat SRP72 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SRP72 (see all 27):
    hsa-miR-579 hsa-miR-429 hsa-miR-15a hsa-miR-128 hsa-miR-200a hsa-miR-4263 hsa-miR-218 hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidSRP72 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for SRP72
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SRP72

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    eBioscience FlowRNA Probe Sets ( VA1-12063) for SRP72 


    (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
    SRP72_HUMAN, O76094: Cytoplasm. Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol4
    nucleus4
    plasma membrane4
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus ----
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IDA--
    GO:0005786signal recognition particle, endoplasmic reticulum targeting IDA18089836
    GO:0005829cytosol TAS--

    Find genes that share ontologies with SRP72           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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    SuperPaths for SRP72 About    
    See pathways by source

    SuperPathContained pathways About
    1Influenza Viral RNA Transcription and Replication
    SRP-dependent cotranslational protein targeting to membrane0.83
    Translation0.82
    2Gene Expression
    Gene Expression0.40
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Protein export
    Protein export


    Find genes that share SuperPaths with SRP72           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SRP72
        SRP-dependent cotranslational protein targeting to membrane


    1 Kegg Pathway  (Kegg details for SRP72):
        Protein export

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SRP72
    Interactions:

        GeneGlobe Interaction Network for SRP72

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

    Selected Interacting proteins for SRP72 (O760942, 3 ENSP000003421814) via UniProtKB, MINT, STRING, and/or I2D (see all 918)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRP68Q9UHB92, 3, ENSP000003120664MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000312066
    SKILP127572, 3MINT-61670 I2D: score=3 
    RPL22P352682, ENSP000003460884MINT-7945693 MINT-7947479 STRING: ENSP00000346088
    SRP54P610112, ENSP000002167744MINT-7945693 MINT-7947479 STRING: ENSP00000216774
    HNRNPA1P096512, 3, ENSP000003418264MINT-7945693 I2D: score=1 STRING: ENSP00000341826
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation TAS--
    GO:0006614SRP-dependent cotranslational protein targeting to membrane TAS--
    GO:0010467gene expression TAS--
    GO:0042493response to drug IDA18089836
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with SRP72           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 SRP72



    (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 SRP72 gene (2 alternative transcripts): 
    NM_001267722.1  NM_006947.3  

    Unigene Cluster for SRP72:

    Signal recognition particle 72kDa
    Hs.237825  [show with all ESTs]
    Unigene Representative Sequence: NM_006947
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342756(uc003hbv.3 uc010ihe.3) ENST00000510663 ENST00000504757
    ENST00000505314 ENST00000507126(uc003hbx.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat SRP72 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SRP72 (see all 27):
    hsa-miR-579 hsa-miR-429 hsa-miR-15a hsa-miR-128 hsa-miR-200a hsa-miR-4263 hsa-miR-218 hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidSRP72 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SRP72 (NM_006947)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SRP72
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SRP72
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SRP72
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      QuantiFast Probe-based Assays in human, mouse, rat SRP72
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12063) for SRP72 

    Additional mRNA sequence: 

    AF038851.1 AF069765.1 AF077019.1 AF086131.1 AF086530.1 AK023480.1 AK225430.1 AK307397.1 
    BC017057.1 BC032609.1 BC040134.1 BC046143.1 BC056901.1 BC065018.1 BC105583.1 BX537991.1 

    Selected DOTS entries (see all 26):

    DT.97805941  DT.115778  DT.100885672  DT.100885677  DT.100885669  DT.100885674  DT.91758328  DT.91758329 
    DT.121267283  DT.100885665  DT.100885666  DT.100885676  DT.100885671  DT.100885678  DT.102839895  DT.102839897 
    DT.121267295  DT.121267422  DT.121341580  DT.97815824  DT.97864354  DT.99947798  DT.121341522  DT.75141672 

    Selected AceView cDNA sequences (see all 961):

    BM907451 CR599217 CR603949 CB160297 AI589192 BM985263 BC019255 AA587665 
    CR594794 BM014378 BF725866 BE048482 AA331421 AA358061 CK430680 CR607051 
    CD622701 CF593503 AU077090 AA669362 AA417160 BM800362 BM851689 BM795350 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SRP72    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19
    SP1:                                            -           -     -                                                           -               
    SP2:                                            -                                                                                             
    SP3:                                                                                                                                          
    SP4:                                                                                                                                          


    ECgene alternative splicing isoforms for SRP72

    (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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    SRP72 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTTTCTAG
    SRP72 Expression
    About this image


    SRP72 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SRP72 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SRP72 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.237825
        Custom PCR Arrays for SRP72
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRP72

    (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 eukaryotes.

    Orthologs for SRP72 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srp721 , 5 signal recognition particle 721, 5 89.72(n)1
    96.34(a)1
      5 (41.45 cM)5
    666611  NM_025691.11  NP_079967.11 
     769746835 
    chicken
    (Gallus gallus)
    Aves SRP721 signal recognition particle 72kDa 77.12(n)
    86.85(a)
      422626  NM_001006449.1  NP_001006449.1 
    lizard
    (Anolis carolinensis)
    Reptilia SRP726
    signal recognition particle 72kDa
    84(a)
    1 ↔ 1
    GL343257.1(1723173-1747649)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.51372 Xenopus laevis transcribed sequence with moderate similarity more 76.79(n)    BU909646.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb49d082 Danio rerio cDNA clone IMAGE3815935, partial cds 74.99(n)    BC055254.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Srp721 Signal recognition particle protein 72 48.31(n)
    42.29(a)
      42439  NM_142641.3  NP_650898.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F08D12.13
    CELE_F08D12.11
    signal recognition particle protein3
    CELE_F08D12.11
    27(a)3
    44.25(n)1
    31.43(a)1
      II(2787479-2793199)3
    1736251  NM_061965.51  NP_494366.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G676801 AT1G67680 46.94(n)
    35.21(a)
      843093  NM_105436.3  NP_176936.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g08890001 Os01g0889000 46.58(n)
    34.81(a)
      4324904  NM_001051579.1  NP_001045044.1 


    ENSEMBL Gene Tree for SRP72 (if available)
    TreeFam Gene Tree for SRP72 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SRP72 gene

    Find genes that share paralogs with SRP72           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for SRP72
    PGOHUM00000234929 PGOHUM00000243430


    (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 SRP72 (see all 903)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0685224
    Bone marrow failure, familial (BMFF)4--see VAR_0685222 R H mis40--------
    rs795405911,2
    C,F--57233793(+) GGCAGT/CTTCTG 2 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1428914501,2
    --57233887(+) TACTGC/TAGTGA 2 -- us2k10--------
    rs345103731,2
    C,F--57233942(+) AGAGTG/CAGATA 2 -- us2k16Minor allele frequency- C:0.09NA WA EA 366
    rs1510354161,2
    --57233999(+) CCAACC/TTTTTT 2 -- us2k10--------
    rs1400382411,2
    --57234097(+) CATTAG/TATTCT 2 -- us2k10--------
    rs766769071,2
    C--57234148(+) CACAAT/CAGGGT 2 -- us2k15Minor allele frequency- C:0.20CSA WA NA EA 361
    rs131439041,2
    C,H--57234294(+) ctgTTC/TTAAGA 2 -- us2k1 tfbs35Minor allele frequency- T:0.00NS EA NA 420
    rs596471631,2
    C,F--57234349(+) CTCAAG/AGTAAC 2 -- us2k11Minor allele frequency- A:0.50WA 2
    rs68321681,2
    C,F,A,H--57234392(+) AAAAGT/AAGTTA 2 -- us2k112Minor allele frequency- A:0.42NA WA CSA EA 506

    HapMap Linkage Disequilibrium report for SRP72 (57333081 - 57369847 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SRP72:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829941CNV Loss17160897

    Human Gene Mutation Database (HGMD): SRP72
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SRP72
    DNA2.0 Custom Variant and Variant Library Synthesis for SRP72

    (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: 602122   
    OMIM disorders: 614675  
    UniProtKB/Swiss-Prot: SRP72_HUMAN, O76094
  • Bone marrow failure, familial (BMFF) [MIM:614675]: An autosomal dominant disease characterized by
    aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in
    which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal
    hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for SRP72:    
    About MalaCards
    bone marrow failure syndrome 1    bone marrow failure, familial    anterior spinal artery syndrome    iritis

    2 diseases from the University of Copenhagen DISEASES database for SRP72:
    Anterior spinal artery syndrome     Iritis

    Find genes that share disorders with SRP72           About GenesLikeMe


    Export disorders for SRP72 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 SRP72 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with SRP72)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A truncated isoform of Ca2+/calmodulin-dependent protein kinase II expressed in human islets of Langerhans may result from trans- splicing. (PubMed id 9224693)1, 3, 9 Breen M.A. and Ashcroft S.J. (FEBS Lett. 1997)
    2. Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. (PubMed id 22541560)1, 2 Kirwan M.... Dokal I. (Am. J. Hum. Genet. 2012)
    3. The 72-kDa component of signal recognition particle is cleaved during apoptosis. (PubMed id 9857079)1, 3 Utz P.J....Anderson P. (J. Biol. Chem. 1998)
    4. Protein SRP68 of human signal recognition particle: identification of the RNA and SRP72 binding domains. (PubMed id 16672232)1, 9 Iakhiaeva E....Zwieb C. (Protein Sci. 2006)
    5. The Signal Recognition Particle Database (SRPDB). (PubMed id 9399828)1, 9 Larsen N....Zwieb C. (Nucleic Acids Res. 1998)
    6. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PubMed id 23349634)1 Cloutier P.... Coulombe B. (PLoS Genet. 2013)
    7. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6731 HGNC: 11303 AceView: PAICSandSRP72 Ensembl:ENSG00000174780 euGenes: HUgn6731
    ECgene: SRP72 Kegg: 6731 H-InvDB: SRP72

    (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 SRP72 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Signal_recognition_particle

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SRP72 gene:
    Search GeneIP for patents involving SRP72

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



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