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    SRP68 signal recognition particle 68 [ Homo sapiens (human) ]

    Gene ID: 6730, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SRP68provided by HGNC
    Official Full Name
    signal recognition particle 68provided by HGNC
    Primary source
    HGNC:HGNC:11302
    See related
    Ensembl:ENSG00000167881 MIM:604858; AllianceGenome:HGNC:11302
    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
    SCN10
    Summary
    This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 29.4), esophagus (RPKM 22.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SRP68 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76038785..76072517, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76931916..76965649, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74034866..74068598, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TEN1-CDK3 readthrough (NMD candidate) Neighboring gene MPRA-validated peak3002 silencer Neighboring gene Sharpr-MPRA regulatory region 2383 Neighboring gene cyclin dependent kinase 3 Neighboring gene envoplakin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74022969-74023856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74030076-74030683 Neighboring gene Sharpr-MPRA regulatory region 345 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74036239-74036940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74036941-74037642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74067885-74068712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74068713-74069540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74070927-74071808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74072691-74073571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74075097-74076094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74076095-74077090 Neighboring gene MPRA-validated peak3003 silencer Neighboring gene galanin receptor 2 Neighboring gene zinc activated ion channel Neighboring gene exocyst complex component 7 Neighboring gene microRNA 6868

    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. Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia. Schmaltz-Panneau B, et al. Haematologica, 2021 Apr 1. PMID 32273475, Free PMC Article
    2. Molecular cloning, tissue expression, and chromosomal assignment of a novel gene encoding a subunit of the human signal-recognition particle. Harada H, et al. J Hum Genet, 2001. PMID 11281415
    3. Identification of the RNA binding regions of SRP68/72 and SRP72 by systematic mutagenesis of human SRP RNA. Yin J, et al. RNA Biol, 2007 Nov. PMID 18347438
    4. Anti-cooperative assembly of the SRP19 and SRP68/72 components of the signal recognition particle. Maity TS, et al. Biochem J, 2008 Nov 1. PMID 18564060, Free PMC Article
    5. Characterization of the SRP68/72 interface of human signal recognition particle by systematic site-directed mutagenesis. Iakhiaeva E, et al. Protein Sci, 2009 Oct. PMID 19693936, Free PMC Article

    See all (159) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia.
      Title: Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia.
    2. 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.
    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. study presents the crystal structures of the RNA-binding domain of SRP68 (SRP68-RBD) alone and in complex with SRP RNA and SRP19; data provide the structural basis for eukaryote-specific, SRP68-driven RNA remodeling required for protein translocation
      Title: SRP RNA remodeling by SRP68 explains its role in protein translocation.
    6. 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.
    7. The RNA binding domain of SRP68 included residues from positions 52 to 252. Ninety-four amino acids near the C terminus of SRP68 mediated the binding to SRP72
      Title: Protein SRP68 of human signal recognition particle: identification of the RNA and SRP72 binding domains.
    Submit: New GeneRIF Correction

    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
    Neutropenia, severe congenital, 10, autosomal recessive
    MedGen: C5882756 OMIM: 620534 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 68kDa protein (SRP68), 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 68kDa protein (SRP68), 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 68kDa protein (SRP68), 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 68kDa protein (SRP68), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells 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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables endoplasmic reticulum signal peptide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to ribosome binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables signal recognition particle binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    involved_in response to xenobiotic stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ribosome TAS
    Traceable Author Statement
    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 SRP68
    Names
    signal recognition particle 68 kDa protein
    signal recognition particle 68kD
    signal recognition particle 68kDa

    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.

    mRNA and Protein(s)

    1. NM_001260502.2 → NP_001247431.1  signal recognition particle subunit SRP68 isoform 2

      See identical proteins and their annotated locations for NP_001247431.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK126258, AU137443, DB315535, DQ786315
      Consensus CDS
      CCDS58601.1
      UniProtKB/TrEMBL
      B4DVI7
      Related
      ENSP00000446136.1, ENST00000539137.5
      Conserved Domains (1) summary
      pfam16969
      Location:75 → 559
      SRP68; RNA-binding signal recognition particle 68

    2. NM_001260503.2 → NP_001247432.1  signal recognition particle subunit SRP68 isoform 3

      See identical proteins and their annotated locations for NP_001247432.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a large portion of the 5' coding region, uses an alternate 5'-most exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK097962, DB315535, DQ786315
      Consensus CDS
      CCDS58600.1
      UniProtKB/TrEMBL
      Q96K97
      Related
      ENSP00000473613.1, ENST00000602720.5
      Conserved Domains (1) summary
      cl22422
      Location:1 → 258
      SRP68-RBD; RNA-binding domain of signal recognition particle subunit 68

    3. NM_014230.4 → NP_055045.2  signal recognition particle subunit SRP68 isoform 1

      See identical proteins and their annotated locations for NP_055045.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF195951, AK074698, AU137443, DB315535, DQ786315
      Consensus CDS
      CCDS11738.1
      UniProtKB/Swiss-Prot
      B3KUU5, B3KWY7, G3V1U4, Q8NCJ4, Q8WUK2, Q9UHB9
      UniProtKB/TrEMBL
      B4DVI7
      Related
      ENSP00000312066.1, ENST00000307877.7
      Conserved Domains (1) summary
      pfam16969
      Location:75 → 598
      SRP68; RNA-binding signal recognition particle 68

    RNA

    1. NR_048541.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site and lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK301100, AU137443, BC000760, DB315535, DQ786315

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      76038785..76072517 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76931916..76965649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHB9.2 GenPept UniProtKB/Swiss-Prot:Q9UHB9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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