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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
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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
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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

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