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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6729
Gene name Gene Name - the full gene name approved by the HGNC.	Signal recognition particle 54
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SRP54
Synonyms (NCBI Gene) Gene synonyms aliases	SCN8
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital Neutropenia	Neutropenia, severe congenital, 8, autosomal dominant	rs1555354750, rs1594996301, rs1595004126, rs1595004676, rs1555354200, rs1555354198	N/A
Shwachman-Diamond Syndrome	shwachman-diamond syndrome 1	rs1555354198, rs1555354750, rs1555354200	N/A
Ciliary Dyskinesia	ciliary dyskinesia, primary, 40	rs1555354198	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Biliary Cholangitis	Primary biliary cholangitis	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
CD59 Deficiency	Associate	35703068
Congenital Bone Marrow Failure Syndromes	Associate	33104793
Cyclic neutropenia	Associate	36159802
Exocrine Pancreatic Insufficiency	Associate	33053321
Immunologic Deficiency Syndromes	Associate	36159802
Ischemic Attack Transient	Associate	29514802
Lactase Deficiency Congenital	Associate	28132945
Lactose Intolerance	Associate	28132945
Myositis	Associate	35703068
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	33053321
Neoplasms	Associate	37226705
Neutropenia	Associate	29914977, 30237254, 33053321, 33417891, 36159802
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	29914977, 33053321, 36159802
Shwachman Diamond Syndrome	Associate	29914977, 33053321, 33417891
Stroke	Associate	29514802
Wells syndrome	Associate	33053321

SRP54 (signal recognition particle 54)