Format

Send to:

Choose Destination

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

Gene ID: 6731, updated on 9-Feb-2020

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
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

Genomic context

See SRP72 in Genome Data Viewer
Location:
4q12
Exon count:
20
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (56467617..56503681)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57333370..57369847)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506514 Neighboring gene phosphoribosyl pyrophosphate amidotransferase Neighboring gene phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase Neighboring gene uncharacterized LOC105377665 Neighboring gene ADP ribosylation factor like GTPase 9 Neighboring gene theg spermatid protein like 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
Bone marrow failure syndrome 1
MedGen: C3808553 OMIM: 614675 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
NHGRI GWA 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

Homology

Gene Ontology Provided by GOA

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

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)

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/Swiss-Prot
    O76094
    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
    O76094
    UniProtKB/TrEMBL
    V9HWK0
    Related
    ENSP00000495128.1, ENST00000642900.1
    Conserved Domains (5) summary
    sd00006
    Location:176204
    TPR; TPR repeat [structural motif]
    pfam08492
    Location:531584
    SRP72; SRP72 RNA-binding domain
    pfam13424
    Location:185255
    TPR_12; Tetratricopeptide repeat
    pfam17004
    Location:36157
    SRP_TPR_like; Putative TPR-like repeat
    cl26002
    Location:233503
    TPR_11; TPR repeat

RNA

  1. NR_151856.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC114766

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    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
Support Center