SRP54 - signal recognition particle 54 Gene

Homo sapiens

Also known as SCN8

Gene ID: 6729 | Gene type: protein coding

About SRP54

Cytogenetic location: 14q13.2 Genomic coordinates (GRCh38): 14:34,982,992-35,029,567 (from NCBI)

This gene has 23 transcripts (splice variants), 217 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 26.2), thyroid (RPKM 18.4) and 25 other tissues.

Summary

Enables several functions, including 7S RNA binding activity; endoplasmic reticulum signal peptide binding activity; and guanyl ribonucleotide binding activity. Contributes to GTPase activity. Involved in granulocyte differentiation and protein targeting to ER. Located in cytosol and nucleus. Part of signal recognition particle, endoplasmic reticulum targeting. Implicated in severe congenital neutropenia 8. [provided by Alliance of Genome Resources, Apr 2022]

SRP54 Products(3)

mRNA	Protein	Name
NM_001146282.2	NP_001139754.1	signal recognition particle 54 kDa protein isoform 2
NM_001411017.1	NP_001397946.1	signal recognition particle 54 kDa protein isoform 3
NM_003136.4	NP_003127.1	signal recognition particle 54 kDa protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 7S RNA binding	IDA IDA: Inferred from direct assay	9511762	GOA
enables GDP binding	IDA IDA: Inferred from direct assay	8622769	GOA
enables GTP binding	IDA IDA: Inferred from direct assay	8622769	GOA
contributes to GTPase activity	IDA IDA: Inferred from direct assay	8247130	GOA
enables GTPase activity	IMP IMP: Inferred from mutant phenotype	28972538	GOA
enables endoplasmic reticulum signal peptide binding	IDA IDA: Inferred from direct assay	9511762	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24965446	GOA
enables ribonucleoprotein complex binding	IDA IDA: Inferred from direct assay	9511762	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in granulocyte differentiation	IMP IMP: Inferred from mutant phenotype	28972538	GOA
involved in protein targeting to ER	IMP IMP: Inferred from mutant phenotype	18089836	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	10618370	GOA
NOT located in nucleolus	IDA IDA: Inferred from direct assay	10618370	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18089836	GOA
part of signal recognition particle, endoplasmic reticulum targeting	IDA IDA: Inferred from direct assay	18089836	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SRP54 Protein Structure

SRP54_N

SRP54

SRP_SPB

0
100
200
300
400
504 a.a.

Protein Preferred Names

Protein Names

signal recognition particle 54 kDa protein

signal recognition particle 54kD

Recombinant SRP54 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74537	SRP54 Protein, Human (sf9, His)	P61011 (M1-M504)	≥95%

SRP54 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82392	SRP54 Antibody (YA2137)	WB, IHC-P, IP, FC	Mouse, Rat, Human

Related Diseases

Diseases

Alias

Neutropenia, Severe Congenital, 8, Autosomal Dominant

SCN8	Neutropenia, Severe Congenital, 8, Autosomal Dominant, With Or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities
Shwachman-Diamond Syndrome-Like	Sdsl
Neutropenia, Severe Congenital 8, Autosomal Dominant	Neutropenia, Severe Congenital, Type 8, Autosomal Dominant

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome	Shwachman Syndrome
Shwachman-Bodian-Diamond Syndrome	Sds
Pancreatic Insufficiency And Bone Marrow Dysfunction	Shwachman-Bodian Syndrome
SDS1	Lipomatosis Of Pancreas, Congenital
Congenital Lipomatosis Of Pancreas	Shwachman-Diamond Type Metaphyseal Dysplasia
Metaphyseal Chondrodysplasia, Shwachman Type	Shwachman-Diamond-Oski Syndrome

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Severe Congenital Neutropenia 8

Autosomal Dominant Severe Congenital Neutropenia 8 With Or Without Pancreatic Dysfunction And/Or Neurological Abnormalities	Scn8
Sdsl	Shwachman-Diamond Syndrome-Like

Severe Congenital Neutropenia

Congenital Neutropenia	Neutropenia, Severe Congenital
Congenital Agranulocytosis	Infantile Genetic Agranulocytosis
Kostmann Disease	Kostmann'S Agranulocytosis
Kostmann'S Syndrome	Severe Infantile Genetic Neutropenia

Neutropenia

Leukopenia

Severe Congenital Neutropenia 7

Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency

Scn7

Spondylometaphyseal Dysplasia, Corner Fracture Type

SMDCF	Spondylometaphyseal Dysplasia, Sutcliffe Type
Spondylometaphyseal Dysplasia Corner Fracture Type	Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Spondylometaphyseal Dysplasia Sutcliffe Type	Sutcliffe Type Of Spondylometaphyseal Dysplasia
Spondylometaphyseal Dysplasia - Sutcliffe Type	Smd, Corner Fractures Type
Smd, Sutcliffe Type	Sutcliffe Smd
Dysplasia, Spondylometaphyseal, Corner Fracture Type

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13773	SRP54 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SRP54	VGNC	VGNC:46807
Bos taurus	SRP54	VGNC	VGNC:35285
Macaca mulatta	SRP54	VGNC	VGNC:82247
Felis catus	SRP54	VGNC	VGNC:65683
Rattus norvegicus	SRP54	RGD	RGD:621390
Others	SRP54	NCBI

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