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SRP54 - signal recognition particle 54 Gene

Also Known as SCN8

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 6729

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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

製品番号	製品名	アクセッション番号	純度
HY-P74537	SRP54 Protein, Human (sf9, His)	P61011 (M1-M504)	≥ 95%, as determined by reducing SDS-PAGE.

SRP54 抗体

製品番号	製品名	アプリケーション	反応性
HY-P82392	SRP54 Antibody (YA2137)	WB, IHC-P, IP, FC	Mouse, Rat, Human

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13773	SRP54 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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