Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6729
Gene name	Signal recognition particle 54
Gene symbol	SRP54
Synonyms (NCBI Gene)	SCN8
Chromosome	14
Chromosome location	14q13.2

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555354198	ACA>-	Pathogenic, likely-pathogenic	Inframe deletion, coding sequence variant
rs1555354200	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555354750	G>A	Pathogenic	Coding sequence variant, missense variant
rs1594996301	G>C	Pathogenic	Missense variant, coding sequence variant
rs1595004126	C>A	Pathogenic	Missense variant, coding sequence variant
rs1595004676	G>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (82)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038146	hsa-miR-423-5p	CLASH	23622248
MIRT069866	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT069874	hsa-miR-451b	PAR-CLIP	21572407
MIRT278347	hsa-miR-1253	PAR-CLIP	21572407
MIRT069875	hsa-miR-6076	PAR-CLIP	21572407
MIRT069876	hsa-miR-6797-3p	PAR-CLIP	21572407
MIRT549699	hsa-miR-4767	PAR-CLIP	21572407
MIRT549698	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT549697	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT069870	hsa-miR-3161	PAR-CLIP	21572407
MIRT439545	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT439545	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT069866	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT069874	hsa-miR-451b	PAR-CLIP	21572407
MIRT278347	hsa-miR-1253	PAR-CLIP	21572407
MIRT069875	hsa-miR-6076	PAR-CLIP	21572407
MIRT069876	hsa-miR-6797-3p	PAR-CLIP	21572407
MIRT549699	hsa-miR-4767	PAR-CLIP	21572407
MIRT549698	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT549697	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT069870	hsa-miR-3161	PAR-CLIP	21572407
MIRT1389208	hsa-miR-3120-3p	CLIP-seq
MIRT1389209	hsa-miR-3169	CLIP-seq
MIRT1389210	hsa-miR-452	CLIP-seq
MIRT1389211	hsa-miR-4670-3p	CLIP-seq
MIRT1389212	hsa-miR-4676-3p	CLIP-seq
MIRT1389213	hsa-miR-494	CLIP-seq
MIRT1389214	hsa-miR-606	CLIP-seq
MIRT1389215	hsa-miR-433	CLIP-seq
MIRT1389216	hsa-miR-499-3p	CLIP-seq
MIRT1389217	hsa-miR-499a-3p	CLIP-seq
MIRT1389218	hsa-miR-590-3p	CLIP-seq
MIRT1389208	hsa-miR-3120-3p	CLIP-seq
MIRT2339013	hsa-miR-331-5p	CLIP-seq
MIRT2339014	hsa-miR-4272	CLIP-seq
MIRT2339015	hsa-miR-4678	CLIP-seq
MIRT1389213	hsa-miR-494	CLIP-seq
MIRT2339016	hsa-miR-545	CLIP-seq
MIRT2632669	hsa-miR-105	CLIP-seq
MIRT2632670	hsa-miR-1272	CLIP-seq
MIRT2632671	hsa-miR-1322	CLIP-seq
MIRT1389209	hsa-miR-3169	CLIP-seq
MIRT2632672	hsa-miR-4282	CLIP-seq
MIRT1389215	hsa-miR-433	CLIP-seq
MIRT1389210	hsa-miR-452	CLIP-seq
MIRT1389212	hsa-miR-4676-3p	CLIP-seq
MIRT1389216	hsa-miR-499-3p	CLIP-seq
MIRT1389217	hsa-miR-499a-3p	CLIP-seq
MIRT2632673	hsa-miR-520d-5p	CLIP-seq
MIRT2632674	hsa-miR-524-5p	CLIP-seq
MIRT2632675	hsa-miR-548ac	CLIP-seq
MIRT2632676	hsa-miR-548ae	CLIP-seq
MIRT2632677	hsa-miR-548aj	CLIP-seq
MIRT2632678	hsa-miR-548am	CLIP-seq
MIRT2632679	hsa-miR-548d-3p	CLIP-seq
MIRT2632680	hsa-miR-548x	CLIP-seq
MIRT2632681	hsa-miR-548z	CLIP-seq
MIRT2632682	hsa-miR-570	CLIP-seq
MIRT1389218	hsa-miR-590-3p	CLIP-seq
MIRT2632683	hsa-miR-595	CLIP-seq
MIRT2632669	hsa-miR-105	CLIP-seq
MIRT2632670	hsa-miR-1272	CLIP-seq
MIRT2632671	hsa-miR-1322	CLIP-seq
MIRT1389209	hsa-miR-3169	CLIP-seq
MIRT2632672	hsa-miR-4282	CLIP-seq
MIRT1389215	hsa-miR-433	CLIP-seq
MIRT1389210	hsa-miR-452	CLIP-seq
MIRT1389212	hsa-miR-4676-3p	CLIP-seq
MIRT1389216	hsa-miR-499-3p	CLIP-seq
MIRT1389217	hsa-miR-499a-3p	CLIP-seq
MIRT2632673	hsa-miR-520d-5p	CLIP-seq
MIRT2632674	hsa-miR-524-5p	CLIP-seq
MIRT2632675	hsa-miR-548ac	CLIP-seq
MIRT2632676	hsa-miR-548ae	CLIP-seq
MIRT2632677	hsa-miR-548aj	CLIP-seq
MIRT2632678	hsa-miR-548am	CLIP-seq
MIRT2632679	hsa-miR-548d-3p	CLIP-seq
MIRT2632680	hsa-miR-548x	CLIP-seq
MIRT2632681	hsa-miR-548z	CLIP-seq
MIRT2632682	hsa-miR-570	CLIP-seq
MIRT1389218	hsa-miR-590-3p	CLIP-seq
MIRT2632683	hsa-miR-595	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	8247130
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	IMP	28972538
GO:0005515	Function	Protein binding	IPI	24965446, 33053321
GO:0005525	Function	GTP binding	IDA	8622769
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IDA	18089836
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA	10618370
GO:0005737	Component	Cytoplasm	IDA	10618370
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005786	Component	Signal recognition particle, endoplasmic reticulum targeting	IBA
GO:0005786	Component	Signal recognition particle, endoplasmic reticulum targeting	IDA	18089836
GO:0005786	Component	Signal recognition particle, endoplasmic reticulum targeting	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006614	Process	SRP-dependent cotranslational protein targeting to membrane	IC	9511762
GO:0006614	Process	SRP-dependent cotranslational protein targeting to membrane	IEA
GO:0006616	Process	SRP-dependent cotranslational protein targeting to membrane, translocation	IBA
GO:0006616	Process	SRP-dependent cotranslational protein targeting to membrane, translocation	ISS
GO:0006617	Process	SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition	ISS
GO:0008312	Function	7S RNA binding	IBA
GO:0008312	Function	7S RNA binding	IDA	9511762, 18089836
GO:0008312	Function	7S RNA binding	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019003	Function	GDP binding	IDA	8622769
GO:0030593	Process	Neutrophil chemotaxis	ISS
GO:0030851	Process	Granulocyte differentiation	IMP	28972538
GO:0030942	Function	Endoplasmic reticulum signal peptide binding	IBA
GO:0030942	Function	Endoplasmic reticulum signal peptide binding	IDA	9511762
GO:0030942	Function	Endoplasmic reticulum signal peptide binding	IEA
GO:0031017	Process	Exocrine pancreas development	ISS
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	9511762
GO:0045047	Process	Protein targeting to ER	IMP	18089836
GO:0048500	Component	Signal recognition particle	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
604857	11301	ENSG00000100883

P61011

Protein name

Signal recognition particle subunit SRP54 (EC 3.6.5.4) (Signal recognition particle 54 kDa protein)

Protein function

Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (PubMed:34020957). As part of the SRP comple

PDB

1MFQ , 1QB2 , 5L3Q , 6Y2Z , 6Y30 , 6Y31 , 6Y32 , 7NFX , 7QWQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02881	SRP54_N	6 → 83	SRP54-type protein, helical bundle domain	Domain
PF00448	SRP54	101 → 296	SRP54-type protein, GTPase domain	Domain
PF02978	SRP_SPB	326 → 431	Signal peptide binding domain	Domain

Sequence

MVLADLGRKITSALRSLSNATIINEEVLNAMLKEVCTALLEADVNIKLVKQLRENVKSAI
DLEEMASGLNKRKMIQHAVFKELVKLVDPGVKAWTPTKGKQNVIMFVGLQGSGKTTTCSK
LAYYYQRKGWKTCLICADTFRAGAFDQLKQNATKARIPFYGSYTEMDPVIIASEGVEKFK
NENFEIIIVDTSGRHKQEDSLFEEMLQVANAIQPDNIVYVMDASIGQACEAQAKAFKDKV
DVASVIVTKLDGHAKGGGALSAVAATKSPIIFIGTGEHIDDFEPFKTQPFISKLLGMGDI
EGLIDKVNELKLDDNEALIEKLKHGQFTLRDMYEQFQNIMKMGPFSQILGMIPGFGTDFM
SKGNEQESMARLKKLMTIMDSMNDQELDSTDGAKVFSKQPGRIQRVARGSGVSTRDVQEL
LTQYTKFAQMVKKMGGIKGLFKGGDMSKNVSQSQMAKLNQQMAKMMDPRVLHHMGGMAGL
QSMMRQFQQGAAGNMKGMMGFNNM

Sequence length

504

Interactions

View interactions

	KEGG		Reactome
	Protein export		SRP-dependent cotranslational protein targeting to membrane

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ciliary dyskinesia, primary, 40	Likely pathogenic; Pathogenic	rs1555354198	RCV004813105	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutropenia, severe congenital, 8, autosomal dominant	Pathogenic; Likely pathogenic	rs1555354200, rs1555354198, rs1555354750, rs1594996301, rs1595004126, rs1595004676	RCV000999505 RCV000999506 RCV000999504 RCV000999507 RCV000999508 RCV000999509 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Shwachman-Diamond syndrome 1	Pathogenic; Likely pathogenic	rs1555354200, rs1555354198, rs1555354750	RCV000577889 RCV000577900 RCV000577921	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE CONGENITAL NEUTROPENIA-DEVELOPMENTAL DELAY SYNDROME DUE TO SRP54 DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE CONGENITAL NEUTROPENIA-DEVELOPMENTAL DELAY-PANCREATIC INSUFFICIENCY SYNDROME DUE TO SIGNAL RECOGNITION PROTEIN 54 DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHWACHMAN SYNDROME	—	ClinVar, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHWACHMAN-DIAMOND SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SRP54-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant severe congenital neutropenia	Congenital Neutropenia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	33104793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	36159802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	29514802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lactase Deficiency Congenital	Congenital lactase deficiency	Pubtator	28132945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	28972538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29514802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial necrosis	Myocardial necrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	35703068	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	28972538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	29914977, 30237254, 33053321, 33417891, 36159802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	29914977, 33053321, 36159802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia, Severe Congenital, Autosomal Dominant 1	Neutropenia	ORPHANET_DG	29914977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29514802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	ORPHANET_DG	28972538		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shwachman syndrome	Shwachman Syndrome	BEFREE	30413969		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shwachman syndrome	Shwachman Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shwachman-Diamond syndrome	Shwachman-Diamond Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHWACHMAN-DIAMOND SYNDROME 1	Shwachman-Diamond Syndrome	CLINVAR_DG	28972538		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Slipped Capital Femoral Epiphyses	Slipped Capital Femoral Epiphyses	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	29514802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	29514802		★★★★★ ★☆☆☆☆ Found in Text Mining only

SRP54 (signal recognition particle 54)