SRP68 signal recognition particle 68 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRP68provided by HGNC
Official Full Name: signal recognition particle 68provided by HGNC
Primary source: HGNC:HGNC:11302
See related: Ensembl:ENSG00000167881 MIM:604858; AllianceGenome:HGNC:11302
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: SCN10
Summary: This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]
Expression: Ubiquitous expression in thyroid (RPKM 29.4), esophagus (RPKM 22.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (76038785..76072517, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76931916..76965649, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (74034866..74068598, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia.
Title: Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia.
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.
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.
study presents the crystal structures of the RNA-binding domain of SRP68 (SRP68-RBD) alone and in complex with SRP RNA and SRP19; data provide the structural basis for eukaryote-specific, SRP68-driven RNA remodeling required for protein translocation
Title: SRP RNA remodeling by SRP68 explains its role in protein translocation.
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.
The RNA binding domain of SRP68 included residues from positions 52 to 252. Ninety-four amino acids near the C terminus of SRP68 mediated the binding to SRP72
Title: Protein SRP68 of human signal recognition particle: identification of the RNA and SRP72 binding domains.

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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
Neutropenia, severe congenital, 10, autosomal recessive MedGen: CN375555 OMIM: 620534 GeneReviews: Not available	not available

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 68kDa protein (SRP68), 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 68kDa protein (SRP68), 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 68kDa protein (SRP68), 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 68kDa protein (SRP68), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

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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

SRP68__5316 (e-PCR)
- UniSTS:463912

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-152313 (e-PCR)
- UniSTS:177473

D17S1603 (e-PCR), detects polymorphism
- UniSTS:50771

D15S1477 (e-PCR)
- UniSTS:474482

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 7S RNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA binding	HDA more info	PubMed
enables endoplasmic reticulum signal peptide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ribosome binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables signal recognition particle binding	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in response to xenobiotic stimulus	IDA Inferred from Direct Assay 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 endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	IDA Inferred from Direct Assay more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in ribosome	TAS Traceable Author Statement 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 SRP68

Names: signal recognition particle 68 kDa protein; signal recognition particle 68kD; signal recognition particle 68kDa

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)

NM_001260502.2 → NP_001247431.1 signal recognition particle subunit SRP68 isoform 2

See identical proteins and their annotated locations for NP_001247431.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AK126258, AU137443, DB315535, DQ786315

Consensus CDS

CCDS58601.1

UniProtKB/TrEMBL

B4DVI7

Related

ENSP00000446136.1, ENST00000539137.5

Conserved Domains (1) summary

pfam16969
Location:75 → 559

SRP68; RNA-binding signal recognition particle 68
NM_001260503.2 → NP_001247432.1 signal recognition particle subunit SRP68 isoform 3

See identical proteins and their annotated locations for NP_001247432.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks a large portion of the 5' coding region, uses an alternate 5'-most exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK097962, DB315535, DQ786315

Consensus CDS

CCDS58600.1

UniProtKB/TrEMBL

Q96K97

Related

ENSP00000473613.1, ENST00000602720.5

Conserved Domains (1) summary

cl22422
Location:1 → 258

SRP68-RBD; RNA-binding domain of signal recognition particle subunit 68
NM_014230.4 → NP_055045.2 signal recognition particle subunit SRP68 isoform 1

See identical proteins and their annotated locations for NP_055045.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AF195951, AK074698, AU137443, DB315535, DQ786315

Consensus CDS

CCDS11738.1

UniProtKB/Swiss-Prot

B3KUU5, B3KWY7, G3V1U4, Q8NCJ4, Q8WUK2, Q9UHB9

UniProtKB/TrEMBL

B4DVI7

Related

ENSP00000312066.1, ENST00000307877.7

Conserved Domains (1) summary

pfam16969
Location:75 → 598

SRP68; RNA-binding signal recognition particle 68

RNA

NR_048541.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site and lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK301100, AU137443, BC000760, DB315535, DQ786315