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    SRP72 signal recognition particle 72 [ Homo sapiens (human) ]

    Gene ID: 6731, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SRP72provided by HGNC
    Official Full Name
    signal recognition particle 72provided by HGNC
    Primary source
    HGNC:HGNC:11303
    See related
    Ensembl:ENSG00000174780 MIM:602122; AllianceGenome:HGNC:11303
    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
    BMFF; BMFS1; HEL103
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 21.7), lymph node (RPKM 15.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SRP72 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (56467617..56503681)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (59955623..59991687)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57333783..57369847)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene phosphoribosyl pyrophosphate amidotransferase Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:57291569-57292254 Neighboring gene phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15450 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:57302513-57303396 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:57325164-57326363 Neighboring gene uncharacterized LOC124900706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21580 Neighboring gene uncharacterized LOC105377665 Neighboring gene ARF like GTPase 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:57397246-57397779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15451 Neighboring gene sperm microtubule associated protein 2 like Neighboring gene ReSE screen-validated silencer GRCh37_chr4:57424181-57424393 Neighboring gene glycine decarboxylase pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Each of the activities of signal recognition particle (SRP) is contained within a distinct domain: analysis of biochemical mutants of SRP. Siegel V, et al. Cell, 1988 Jan 15. PMID 2830980
    2. Depletion of signal recognition particle 72kDa increases radiosensitivity. Prevo R, et al. Cancer Biol Ther, 2017 Jun 3. PMID 28494188, Free PMC Article
    3. Identification of amino acid residues in protein SRP72 required for binding to a kinked 5e motif of the human signal recognition particle RNA. Iakhiaeva E, et al. BMC Mol Biol, 2010 Nov 13. PMID 21073748, Free PMC Article
    4. The 5e motif of eukaryotic signal recognition particle RNA contains a conserved adenosine for the binding of SRP72. Iakhiaeva E, et al. RNA, 2008 Jun. PMID 18441046, Free PMC Article
    5. Identification of an RNA-binding domain in human SRP72. Iakhiaeva E, et al. J Mol Biol, 2005 Jan 28. PMID 15588816

    See all (152) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. e show that SRP RNA does not bind to the ribosome, while SRP binds with nanomolar affinity involving a two-step mechanism of the key-player SRP54. Ultrasensitive binding of SRP68/72 indicates avidity by multiple binding sites that are dominated by the C-terminus of SRP72
      Title: Reconstitution of the human SRP system and quantitative and systematic analysis of its ribosome interactions.
    2. SRP72 depletion is associated with elevated levels of apoptosis after irradiation.
      Title: Depletion of signal recognition particle 72kDa increases radiosensitivity.
    3. The essential role of the SRP68-SRP72 interaction in the signal recognition particle-mediated protein translocation
      Title: Human apo-SRP72 and SRP68/72 complex structures reveal the molecular basis of protein translocation.
    4. The crystal structures of the SRP68 protein-binding domain (PBD) in complex with SRP72-PBD and of the SRP72-RBD bound to the SRP S domain (SRP RNA, SRP19 and SRP68) detailing all interactions of SRP72 within SRP have been presented.
      Title: Structures of human SRP72 complexes provide insights into SRP RNA remodeling and ribosome interaction.
    5. SRP68/72 heterodimers as major nuclear proteins whose binding of histone H4 tail is inhibited by H4R3 methylation.
      Title: A novel histone H4 arginine 3 methylation-sensitive histone H4 binding activity and transcriptional regulatory function for signal recognition particle subunits SRP68 and SRP72.
    6. A heterozygous mutation in SRP72 has a role in familial aplasia and myelodysplasia.
      Title: Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
    7. The study delineated the minimal region of SRP72 capable of forming a stable complex with an signal recognition particle RNA fragment.
      Title: Identification of amino acid residues in protein SRP72 required for binding to a kinked 5e motif of the human signal recognition particle RNA.
    8. Inhibitors of MAPK pathway ERK1/2 or p38 prevent the IL-1{beta}-induced up-regulation of SRP72 autoantigen in Jurkat cells.
      Title: Inhibitors of MAPK pathway ERK1/2 or p38 prevent the IL-1{beta}-induced up-regulation of SRP72 autoantigen in Jurkat cells.
    9. Human signal recognition particle RNA with a single A240G change was unable to form a complex with full-length human SRP72.
      Title: The 5e motif of eukaryotic signal recognition particle RNA contains a conserved adenosine for the binding of SRP72.
    10. Human SRP RNA bound with high affinity to a 63 amino acid residue region near the C terminus of SRP72
      Title: Identification of an RNA-binding domain in human SRP72.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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
    Autosomal dominant aplasia and myelodysplasia
    MedGen: C3808553 OMIM: 614675 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
    EBI GWAS Catalog

    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
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify signal recognition particle 72kDa protein (SRP72), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify signal recognition particle 72kDa protein (SRP72), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify signal recognition particle 72kDa protein (SRP72), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify signal recognition particle 72kDa protein (SRP72), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human signal recognition particle 72kDa (SRP72) at amino acid residues 519-520 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 7S RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 7S RNA binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables TPR domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to ribosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to ribosome binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables signal recognition particle binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in SRP-dependent cotranslational protein targeting to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of signal recognition particle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of signal recognition particle, endoplasmic reticulum targeting IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of signal recognition particle, endoplasmic reticulum targeting IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    signal recognition particle subunit SRP72
    Names
    epididymis luminal protein 103
    signal recognition particle 72 kDa protein
    signal recognition particle 72kD
    signal recognition particle 72kDa

    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

    1. NG_032796.1 RefSeqGene

      Range
      5022..41086
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1151

    mRNA and Protein(s)

    1. NM_001267722.2 → NP_001254651.1  signal recognition particle subunit SRP72 isoform 2

      See identical proteins and their annotated locations for NP_001254651.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks 2 consecutive in-frame coding exons in the 5' region compared to variant 1, which results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AF069765, AK023480, BM985263, BM985419, BX537991, DB487204
      Consensus CDS
      CCDS58898.1
      UniProtKB/TrEMBL
      Q71V07
      Related
      ENSP00000424576.1, ENST00000510663.6
      Conserved Domains (4) summary
      sd00006
      Location:44 → 74
      TPR; TPR repeat [structural motif]
      pfam08492
      Location:470 → 523
      SRP72; SRP72 RNA-binding domain
      pfam17004
      Location:36 → 157
      SRP_TPR_like; Putative TPR-like repeat
      cl26002
      Location:23 → 419
      TPR_11; TPR repeat

    2. NM_006947.4 → NP_008878.3  signal recognition particle subunit SRP72 isoform 1

      See identical proteins and their annotated locations for NP_008878.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AC114766, AF069765, BM985419, BX537991, CN270014, DB487204
      Consensus CDS
      CCDS3506.1
      UniProtKB/Swiss-Prot
      G5E9Z8, O76094, Q7Z3C0
      UniProtKB/TrEMBL
      A0A024RD94, Q71V07, V9HWK0
      Related
      ENSP00000495128.1, ENST00000642900.1
      Conserved Domains (5) summary
      TIGR02917
      Location:233 → 503
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:176 → 204
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:185 → 255
      TPR_12; Tetratricopeptide repeat
      pfam17004
      Location:36 → 157
      SRP_TPR_like; Putative TPR-like repeat
      pfam08492
      Location:532 → 584
      SRP72; SRP72 RNA-binding domain

    RNA

    1. NR_151856.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC114766

    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

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      56467617..56503681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454192.2 → XP_024309960.1  signal recognition particle subunit SRP72 isoform X1

      UniProtKB/TrEMBL
      Q86X80
      Conserved Domains (5) summary
      sd00006
      Location:176 → 204
      TPR; TPR repeat [structural motif]
      sd00004
      Location:341 → 367
      PPR; PPR repeat [structural motif]
      pfam13424
      Location:185 → 255
      TPR_12; Tetratricopeptide repeat
      pfam17004
      Location:36 → 157
      SRP_TPR_like; Putative TPR-like repeat
      cl26002
      Location:233 → 503
      TPR_11; TPR repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      59955623..59991687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350750.1 → XP_054206725.1  signal recognition particle subunit SRP72 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O76094.3 GenPept UniProtKB/Swiss-Prot:O76094

    Gene LinkOut

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