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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
SRP72 depletion is associated with elevated levels of apoptosis after irradiation.
Title: Depletion of signal recognition particle 72kDa increases radiosensitivity.
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.
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.
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.
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.
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.
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.
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.
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	Compare labs

EBI GWAS Catalog

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-64104 (e-PCR)
- UniSTS:72967

G19659 (e-PCR)
- UniSTS:44563

G32470 (e-PCR)
- UniSTS:117055

A009E15 (e-PCR)
- UniSTS:21840

STS-W93645 (e-PCR)
- UniSTS:71833

RH10468 (e-PCR)
- UniSTS:88561

SHGC-133081 (e-PCR)
- UniSTS:171006

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 more info	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

NG_032796.1 RefSeqGene

Range

5022..41086

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1151

mRNA and Protein(s)

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
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

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

56467617..56503681

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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