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

    Gene ID: 6731, updated on 5-May-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    4q12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (56467617..56503681)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (59955623..59991687)
    105.20220307 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 ADP ribosylation factor 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal dominant aplasia and myelodysplasia
    MedGen: C3808553 OMIM: 614675 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001267722.2NP_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:4474
      TPR; TPR repeat [structural motif]
      pfam08492
      Location:470523
      SRP72; SRP72 RNA-binding domain
      pfam17004
      Location:36157
      SRP_TPR_like; Putative TPR-like repeat
      cl26002
      Location:23419
      TPR_11; TPR repeat
    2. NM_006947.4NP_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:233503
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:176204
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:185255
      TPR_12; Tetratricopeptide repeat
      pfam17004
      Location:36157
      SRP_TPR_like; Putative TPR-like repeat
      pfam08492
      Location:532584
      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_2023_10

    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_024454192.2XP_024309960.1  signal recognition particle subunit SRP72 isoform X1

      UniProtKB/TrEMBL
      Q86X80
      Conserved Domains (5) summary
      sd00006
      Location:176204
      TPR; TPR repeat [structural motif]
      sd00004
      Location:341367
      PPR; PPR repeat [structural motif]
      pfam13424
      Location:185255
      TPR_12; Tetratricopeptide repeat
      pfam17004
      Location:36157
      SRP_TPR_like; Putative TPR-like repeat
      cl26002
      Location:233503
      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_054350750.1XP_054206725.1  signal recognition particle subunit SRP72 isoform X1