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    SRP19 signal recognition particle 19 [ Homo sapiens (human) ]

    Gene ID: 6728, updated on 5-May-2024

    Summary

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    Official Symbol
    SRP19provided by HGNC
    Official Full Name
    signal recognition particle 19provided by HGNC
    Primary source
    HGNC:HGNC:11300
    See related
    Ensembl:ENSG00000153037 MIM:182175; AllianceGenome:HGNC:11300
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables 7S RNA binding activity. Contributes to ribosome binding activity. Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition. Located in nucleolus. Part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.2), bone marrow (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q22.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (112861287..112898371)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (113371827..113408903)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (112196984..112234068)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene APC regulator of WNT signaling pathway Neighboring gene RNA, U6 small nuclear 482, pseudogene Neighboring gene CBX3 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 9882 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:112226954-112228153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16238 Neighboring gene receptor accessory protein 5 Neighboring gene X-box binding protein 1 pseudogene 1 Neighboring gene ZRSR2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16240 Neighboring gene uncharacterized LOC105379123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22913 Neighboring gene MPRA-validated peak5421 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16241 Neighboring gene Sharpr-MPRA regulatory region 12983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22914 Neighboring gene uncharacterized LOC105379126

    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
    • 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. Expression of anti-SRP19 antibody in muscle tissues from patients with autoimmune necrotizing myopathy. Wang Q, et al. Genet Mol Res, 2016 Aug 12. PMID 27525944
    2. Structural insights into the assembly of the human and archaeal signal recognition particles. Wild K, et al. Acta Crystallogr D Biol Crystallogr, 2010 Mar. PMID 20179341
    3. Structure of the SRP19 RNA complex and implications for signal recognition particle assembly. Hainzl T, et al. Nature, 2002 Jun 13. PMID 12050674
    4. Crystal structure of an early protein-RNA assembly complex of the signal recognition particle. Wild K, et al. Science, 2001 Oct 19. PMID 11641499
    5. Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes. Linder MI, et al. Blood, 2023 Feb 9. PMID 36223592, Free PMC Article

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
      Title: Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
    2. 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.
    3. anti-SRP19 antibody is highly expressed in muscle tissues of patients with autoimmune necrotizing myopathy.
      Title: Expression of anti-SRP19 antibody in muscle tissues from patients with autoimmune necrotizing myopathy.
    4. crystal structures of a crenarchaeal and the all-human SRP19-signal recognition particle RNA binary complexes presented here show that the asymmetric loop is bulged out in both binary complexes.
      Title: Structural insights into the assembly of the human and archaeal signal recognition particles.
    5. Data show that the presence of SRP54 during SRP19-RNA assembly dramatically alters the folding energy landscape to create a non-native folding pathway that leads to an aberrant SRP19-RNA conformation.
      Title: A threefold RNA-protein interface in the signal recognition particle gates native complex assembly.
    6. Structure of the SRP19 RNA complex
      Title: Structure of the SRP19 RNA complex and implications for signal recognition particle assembly.
    7. crystal structure of a human SRP ternary complex consisting of SRP19, the M domain of SRP54 and the S domain of 7SL RNA
      Title: Induced structural changes of 7SL RNA during the assembly of human signal recognition particle.
    8. 1.8 angstrom resolution crystal structure of human SRP19 in complex with its primary binding site on helix 6 of SRP RNA was determined
      Title: Crystal structure of an early protein-RNA assembly complex of the signal recognition particle.
    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

    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
    nucleocapsid gag Overexpression of SRP19 reduces the HIV-1 NC-mediated packaging of 7SL RNA and A3G into virions in a dose-dependent manner 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables RNA binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to ribosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cotranslational protein targeting to membrane TAS
    Traceable Author Statement
    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 nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus 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 19 kDa protein
    Names
    signal recognition particle 19kD
    signal recognition particle 19kDa
    NP_001191122.1
    NP_001191123.1
    NP_001191125.1
    NP_001191128.1
    NP_003126.1

    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_001204193.2 → NP_001191122.1  signal recognition particle 19 kDa protein isoform 2

      See identical proteins and their annotated locations for NP_001191122.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AA845342, AC008575, AW890522, BC017830, CN265235
      Consensus CDS
      CCDS56375.1
      UniProtKB/TrEMBL
      A0A087WWU9
      Related
      ENSP00000282999.3, ENST00000282999.7
      Conserved Domains (1) summary
      pfam01922
      Location:17 → 100
      SRP19; SRP19 protein

    2. NM_001204194.2 → NP_001191123.1  signal recognition particle 19 kDa protein isoform 3

      See identical proteins and their annotated locations for NP_001191123.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AA845342, AC008575, AW890522, CN265235, DN915735, X12791
      Consensus CDS
      CCDS75286.1
      UniProtKB/TrEMBL
      A0A087WYR0
      Related
      ENSP00000482018.1, ENST00000621420.5
      Conserved Domains (1) summary
      pfam01922
      Location:17 → 91
      SRP19; SRP19 protein

    3. NM_001204196.2 → NP_001191125.1  signal recognition particle 19 kDa protein isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon that results in a frameshift in the central and 3' coding regions, compared to variant 1. The encoded isoform (4) has the same N-terminus but is otherwise distinct and shorter, compared to isoform 1.
      Source sequence(s)
      AA845342, AC008575, AW890522, BU661702, CN265235
      Consensus CDS
      CCDS56376.1
      UniProtKB/Swiss-Prot
      P09132
      Related
      ENSP00000425562.1, ENST00000515463.1

    4. NM_001204199.2 → NP_001191128.1  signal recognition particle 19 kDa protein isoform 6

      See identical proteins and their annotated locations for NP_001191128.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 3' coding region and 3' UTR, compared to variant 1, resulting in an isoform (6) with a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC008536, AC008575, DA930867
      Consensus CDS
      CCDS87319.1
      UniProtKB/TrEMBL
      A0A087WWU9, A0A2U3TZN1
      Related
      ENSP00000375133.2, ENST00000391338.3
      Conserved Domains (1) summary
      pfam01922
      Location:17 → 101
      SRP19; SRP19 protein

    5. NM_003135.3 → NP_003126.1  signal recognition particle 19 kDa protein isoform 1

      See identical proteins and their annotated locations for NP_003126.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA845342, AC008575, AW890522, CN265235, X12791
      Consensus CDS
      CCDS4108.1
      UniProtKB/Swiss-Prot
      B2R4E9, D6RCQ5, P09132, Q05D77, Q96FG6
      Related
      ENSP00000424870.1, ENST00000505459.6
      Conserved Domains (1) summary
      pfam01922
      Location:17 → 115
      SRP19; SRP19 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      112861287..112898371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      113371827..113408903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09132.3 GenPept UniProtKB/Swiss-Prot:P09132

    Gene LinkOut

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

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