Aliases for SRP54 Gene

Aliases for SRP54 Gene

  • Signal Recognition Particle 54 2 3 5
  • Signal Recognition Particle 54 KDa Protein 3 4
  • Signal Recognition Particle 54kDa 2 3
  • Signal Recognition Particle 54kD 3
  • EC 3.6.5.- 4
  • SRP54 5
  • SCN8 3

External Ids for SRP54 Gene

Previous GeneCards Identifiers for SRP54 Gene

  • GC14P032830
  • GC14P029239
  • GC14P033442
  • GC14P034521
  • GC14P035452
  • GC14P015564

Summaries for SRP54 Gene

GeneCards Summary for SRP54 Gene

SRP54 (Signal Recognition Particle 54) is a Protein Coding gene. Diseases associated with SRP54 include Neutropenia, Severe Congenital, 8, Autosomal Dominant and Shwachman-Diamond Syndrome 1. Among its related pathways are Viral mRNA Translation and Protein export. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is SRPRA.

UniProtKB/Swiss-Prot Summary for SRP54 Gene

  • Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein). Plays a role in proliferation and differentiation of granulocytic cells, neutrophils migration capacity and exocrine pancreas development (PubMed:29914977, PubMed:28972538).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRP54 Gene

Genomics for SRP54 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SRP54 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRP54 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRP54

Top Transcription factor binding sites by QIAGEN in the SRP54 gene promoter:
  • c-Jun
  • HOXA9
  • HOXA9B
  • Lhx3a
  • LHX3b
  • Meis-1
  • Meis-1b
  • Msx-1
  • p53
  • RORalpha1

Genomic Locations for SRP54 Gene

Latest Assembly
chr14:34,981,957-35,029,686
(GRCh38/hg38)
Size:
47,730 bases
Orientation:
Plus strand

Previous Assembly
chr14:35,452,198-35,498,773
(GRCh37/hg19 by Entrez Gene)
Size:
46,576 bases
Orientation:
Plus strand

chr14:35,451,163-35,498,773
(GRCh37/hg19 by Ensembl)
Size:
47,611 bases
Orientation:
Plus strand

Genomic View for SRP54 Gene

Genes around SRP54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRP54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRP54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRP54 Gene

Proteins for SRP54 Gene

  • Protein details for SRP54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61011-SRP54_HUMAN
    Recommended name:
    Signal recognition particle 54 kDa protein
    Protein Accession:
    P61011
    Secondary Accessions:
    • B2R759
    • B4DUW6
    • P13624

    Protein attributes for SRP54 Gene

    Size:
    504 amino acids
    Molecular mass:
    55705 Da
    Quaternary structure:
    • Signal recognition particle consists of a 7S RNA molecule of 300 nucleotides and six protein subunits: SRP72, SRP68, SRP54, SRP19, SRP14 and SRP9. Interacts with RNPS1.

    Three dimensional structures from OCA and Proteopedia for SRP54 Gene

    Alternative splice isoforms for SRP54 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRP54 Gene

Post-translational modifications for SRP54 Gene

  • Ubiquitination at Lys311, Lys321, Lys426, Lys448, Lys457, and Lys464
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SRP54 Gene

Domains & Families for SRP54 Gene

Gene Families for SRP54 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for SRP54 Gene

Suggested Antigen Peptide Sequences for SRP54 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50234, highly similar to Signal recognition particle 54 kDa protein (B4DUW6_HUMAN)
  • Signal recognition particle 54 kDa protein (SRP54_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61011

UniProtKB/Swiss-Prot:

SRP54_HUMAN :
  • Has a two domain structure: the G-domain binds GTP; the M-domain binds the 7S RNA in presence of SRP19 and also binds the signal sequence.
  • Belongs to the GTP-binding SRP family. SRP54 subfamily.
Domain:
  • Has a two domain structure: the G-domain binds GTP; the M-domain binds the 7S RNA in presence of SRP19 and also binds the signal sequence.
Family:
  • Belongs to the GTP-binding SRP family. SRP54 subfamily.
genes like me logo Genes that share domains with SRP54: view

Function for SRP54 Gene

Molecular function for SRP54 Gene

UniProtKB/Swiss-Prot Function:
Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein). Plays a role in proliferation and differentiation of granulocytic cells, neutrophils migration capacity and exocrine pancreas development (PubMed:29914977, PubMed:28972538).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; Evidence={ECO:0000269|PubMed:28972538};.

Enzyme Numbers (IUBMB) for SRP54 Gene

Phenotypes From GWAS Catalog for SRP54 Gene

Gene Ontology (GO) - Molecular Function for SRP54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0003924 GTPase activity IEA,IMP 28972538
GO:0005515 protein binding IPI 24965446
GO:0005525 GTP binding IEA,IDA 8622769
genes like me logo Genes that share ontologies with SRP54: view
genes like me logo Genes that share phenotypes with SRP54: view

Human Phenotype Ontology for SRP54 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRP54

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SRP54 Gene

Localization for SRP54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRP54 Gene

Nucleus speckle. Cytoplasm. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRP54 gene
Compartment Confidence
nucleus 5
cytosol 5
endoplasmic reticulum 4
plasma membrane 2
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SRP54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18089836
GO:0005730 NOT nucleolus IDA 10618370
GO:0005737 cytoplasm IEA,IDA 10618370
GO:0005783 endoplasmic reticulum IEA --
GO:0005786 signal recognition particle, endoplasmic reticulum targeting IEA,IDA 18089836
genes like me logo Genes that share ontologies with SRP54: view

Pathways & Interactions for SRP54 Gene

genes like me logo Genes that share pathways with SRP54: view

Pathways by source for SRP54 Gene

1 KEGG pathway for SRP54 Gene

SIGNOR curated interactions for SRP54 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for SRP54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006614 SRP-dependent cotranslational protein targeting to membrane IEA,TAS --
GO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation ISS --
GO:0006617 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition ISS --
GO:0030593 neutrophil chemotaxis ISS --
GO:0030851 granulocyte differentiation IMP 28972538
genes like me logo Genes that share ontologies with SRP54: view

Drugs & Compounds for SRP54 Gene

(1) Drugs for SRP54 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for SRP54 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SRP54: view

Transcripts for SRP54 Gene

mRNA/cDNA for SRP54 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRP54

Alternative Splicing Database (ASD) splice patterns (SP) for SRP54 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^
SP1: - - -
SP2:
SP3: -
SP4: - - -
SP5: - -
SP6: - - -
SP7:

ExUns: 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for SRP54 Gene

GeneLoc Exon Structure for
SRP54

Expression for SRP54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRP54 Gene

Protein differential expression in normal tissues from HIPED for SRP54 Gene

This gene is overexpressed in Pancreas (12.2) and Lymph node (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SRP54 Gene



Protein tissue co-expression partners for SRP54 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRP54

SOURCE GeneReport for Unigene cluster for SRP54 Gene:

Hs.167535

Evidence on tissue expression from TISSUES for SRP54 Gene

  • Liver(4.5)
  • Nervous system(4.5)
  • Eye(4.2)
  • Blood(3)
  • Kidney(2.4)
  • Skin(2.3)
  • Muscle(2.1)
  • Pancreas(2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with SRP54: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRP54 Gene

Orthologs for SRP54 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SRP54 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SRP54 29 30
  • 100 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Srp54a 16 30
  • 100 (a)
OneToMany
Srp54c 30
  • 99 (a)
OneToMany
Srp54b 29 16 30
  • 92.2 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 100 (a)
OneToMany
-- 30
  • 100 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia SRP54 30
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SRP54 29 30
  • 95.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SRP54 29 30
  • 95.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Srp54a 29
  • 91.67 (n)
Chicken
(Gallus gallus)
Aves SRP54 29 30
  • 86.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 99 (a)
OneToMany
-- 30
  • 96 (a)
OneToMany
-- 30
  • 85 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia srp54 29
  • 82.41 (n)
MGC75926 29
African clawed frog
(Xenopus laevis)
Amphibia srp54-prov 29
Zebrafish
(Danio rerio)
Actinopterygii srp54 29 30
  • 79.83 (n)
OneToOne
zgc55842 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10862 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004610 29
  • 68.86 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Srp54k 29 30 31
  • 66.93 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F21D5.7 29 30
  • 68.15 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRP54 29 30 32
  • 57.54 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D09020g 29
  • 56.88 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAR041W 29
  • 52.92 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G48900 29
  • 61.77 (n)
Soybean
(Glycine max)
eudicotyledons Gma.1605 29
Rice
(Oryza sativa)
Liliopsida Os01g0772800 29
  • 58.33 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.49 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 71 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes srp54 29
  • 59.27 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU09696 29
  • 57.26 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.15538 29
Species where no ortholog for SRP54 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SRP54 Gene

ENSEMBL:
Gene Tree for SRP54 (if available)
TreeFam:
Gene Tree for SRP54 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SRP54: view image
Alliance of Genome Resources:
Additional Orthologs for SRP54

Paralogs for SRP54 Gene

Paralogs for SRP54 Gene

genes like me logo Genes that share paralogs with SRP54: view

Variants for SRP54 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRP54 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1026728 Uncertain Significance: not provided 35,014,807(+) C/T
NM_003136.4(SRP54):c.950C>T (p.Ala317Val)
MISSENSE
985721 Uncertain Significance: Inborn genetic diseases 35,007,358(+) G/A
NM_003136.4(SRP54):c.331G>A (p.Gly111Arg)
MISSENSE
rs1555354198 Pathogenic/Likely Pathogenic: Neutropenia, severe congenital, 8, autosomal dominant; Shwachman-Diamond syndrome 1; not provided 35,007,368(+) AAAC/A
NM_003136.4(SRP54):c.343_345ACA[2] (p.Thr117del)
INFRAME_DELETION
rs1555354200 Pathogenic: Neutropenia, severe congenital, 8, autosomal dominant; Shwachman-Diamond syndrome 1 35,007,370(+) A/G
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)
MISSENSE
rs1555354750 Likely Pathogenic: Neutropenia, severe congenital, 8, autosomal dominant; Shwachman-Diamond syndrome 1; Inborn genetic diseases 35,013,386(+) G/A
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SRP54 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SRP54 Gene

Variant ID Type Subtype PubMed ID
dgv1867n100 CNV gain 25217958
esv1009559 CNV insertion 20482838
esv1401960 CNV insertion 17803354
esv3581114 CNV loss 25503493
esv3892499 CNV loss 25118596
esv993561 OTHER inversion 20482838
nsv1043801 CNV loss 25217958
nsv1239 CNV deletion 18451855
nsv483012 CNV gain+loss 15286789
nsv564200 CNV gain 21841781
nsv564263 CNV loss 21841781
nsv564264 CNV gain 21841781

Variation tolerance for SRP54 Gene

Residual Variation Intolerance Score: 24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRP54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRP54
Leiden Open Variation Database (LOVD)
SRP54

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRP54 Gene

Disorders for SRP54 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SRP54 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
neutropenia, severe congenital, 8, autosomal dominant
  • scn8
shwachman-diamond syndrome 1
  • sds1
autosomal dominant severe congenital neutropenia
  • severe congenital neutropenia autosomal dominant
neutropenia
  • leukopenia
severe congenital neutropenia
  • congenital agranulocytosis
- elite association - COSMIC cancer census association via MalaCards
Search SRP54 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SRP54_HUMAN
  • Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752]: A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269 PubMed:28972538, ECO:0000269 PubMed:29914977}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SRP54

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SRP54: view

No data available for Genatlas for SRP54 Gene

Publications for SRP54 Gene

  1. Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome. (PMID: 29914977) Bellanné-Chantelot C … Donadieu J (Blood 2018) 3 4 72
  2. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. (PMID: 28972538) Carapito R … Bahram S (The Journal of clinical investigation 2017) 3 4 72
  3. Induced structural changes of 7SL RNA during the assembly of human signal recognition particle. (PMID: 12244299) Kuglstatter A … Nagai K (Nature structural biology 2002) 3 4 22
  4. Crystal structure of the conserved subdomain of human protein SRP54M at 2.1 A resolution: evidence for the mechanism of signal peptide binding. (PMID: 10497032) Clemons WM … Ramakrishnan V (Journal of molecular biology 1999) 3 4 22
  5. Protein SRP54 of human signal recognition particle: cloning, expression, and comparative analysis of functional sites. (PMID: 9511762) Gowda K … Zwieb C (Gene 1998) 3 4 22

Products for SRP54 Gene

Sources for SRP54 Gene