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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SRP54
signal recognition particle 54
Chromosome 14 Β· 14q13.2
NCBI Gene: 6729Ensembl: ENSG00000100883.13HGNC: HGNC:11301UniProt: G3V480
115PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingprotein targeting to ERprotein bindingnucleusneutropenia, severe congenital, 8, autosomal dominantneurodegenerative diseaseShwachman-Diamond syndrome 1Abnormality of the skeletal system
✦AI Summary

SRP54 is an essential component of the signal recognition particle (SRP) complex that mediates cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) 1. The protein binds to signal sequences of nascent secretory proteins emerging from ribosomes and associates with the SRP receptor subunit SRPRA in a GTP-dependent manner to facilitate protein translocation 1. SRP54 exhibits GTPase activity and stimulates reciprocal GTPase activation of SRPRA, with these enzymatic activities being critical for the targeting mechanism 2. The protein contains a methionine-rich M-domain that binds SRP RNA, and systematic mutagenesis has identified specific amino acid residues (positions 379-387, 394-396, 400-405, and 409-411) essential for RNA binding 2. Disease-wise, heterozygous missense mutations in SRP54 cause severe congenital neutropenia through dominant-negative effects that impair unconventional splicing of transcription factor XBP1 3. These mutations lead to neutrophil maturation defects and can present with symptoms overlapping Shwachman-Diamond syndrome 4. Clinically, SRP54-associated neutropenia requires careful monitoring as patients face increased infection risk and potential myeloid transformation 5.

Sources cited
1
SRP54 is a component of SRP complex that targets secretory proteins and binds signal peptides
PMID: 9511762
2
SRP54 has GTPase activity and specific amino acid residues required for RNA binding
PMID: 12234178
3
SRP54 mutations cause congenital neutropenia through dominant-negative effects on XBP1 splicing
PMID: 33227812
4
SRP54 is associated with Shwachman-Diamond syndrome-like phenotype
PMID: 30413969
5
SRP54-associated neutropenia patients face infection risk and potential myeloid transformation
PMID: 38600884
Disease Associationsβ“˜21
neutropenia, severe congenital, 8, autosomal dominantOpen Targets
0.76Strong
neurodegenerative diseaseOpen Targets
0.54Moderate
Shwachman-Diamond syndrome 1Open Targets
0.45Moderate
Abnormality of the skeletal systemOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.35Weak
ciliary dyskinesia, primary, 40Open Targets
0.34Weak
type 2 diabetes mellitusOpen Targets
0.32Weak
premature birthOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.28Weak
inflammatory bowel diseaseOpen Targets
0.24Weak
trauma complicationOpen Targets
0.23Weak
cataractOpen Targets
0.22Weak
dermatitisOpen Targets
0.20Weak
atopic eczemaOpen Targets
0.11Weak
lysosomal storage diseaseOpen Targets
0.11Weak
primary biliary cirrhosisOpen Targets
0.08Suggestive
Eczematoid dermatitisOpen Targets
0.06Suggestive
upper respiratory tract disorderOpen Targets
0.05Suggestive
Inguinal herniaOpen Targets
0.04Suggestive
Neutropenia, severe congenital 8, autosomal dominantUniProt
Pathogenic Variants7
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)Pathogenic
Shwachman-Diamond syndrome 1|Neutropenia, severe congenital, 8, autosomal dominant|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 226
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)Pathogenic
Shwachman-Diamond syndrome 1|not provided|Neutropenia, severe congenital, 8, autosomal dominant|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2025β†’ Residue 117
NM_003136.4(SRP54):c.337G>C (p.Gly113Arg)Likely pathogenic
Neutropenia, severe congenital, 8, autosomal dominant|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 113
NM_003136.4(SRP54):c.331G>A (p.Gly111Arg)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 111
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)Pathogenic
Shwachman-Diamond syndrome 1|Neutropenia, severe congenital, 8, autosomal dominant
β˜†β˜†β˜†β˜†2020β†’ Residue 115
NM_003136.4(SRP54):c.668C>A (p.Ala223Asp)Pathogenic
Neutropenia, severe congenital, 8, autosomal dominant
β˜†β˜†β˜†β˜†2020β†’ Residue 223
NM_003136.4(SRP54):c.821G>A (p.Gly274Asp)Pathogenic
Neutropenia, severe congenital, 8, autosomal dominant
β˜†β˜†β˜†β˜†2020β†’ Residue 274
View on ClinVar β†—
Related Genes
MRPL19Protein interaction100%MRPL27Protein interaction100%MRPL20Protein interaction100%RPS18Protein interaction100%RPL23AProtein interaction100%MRPL21Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
96%
Heart
70%
Lung
59%
Bone Marrow
48%
Ovary
46%
Gene Interaction Network
Click a node to explore
SRP54MRPL19MRPL27MRPL20RPS18RPL23AMRPL21
PROTEIN STRUCTURE
Preparing viewer…
PDB1QB2 Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.30Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.15 [0.08–0.30]
RankingsWhere SRP54 stands among ~20K protein-coding genes
  • #4,136of 20,598
    Most Researched115 Β· top quartile
  • #3,177of 5,498
    Most Pathogenic Variants7
  • #1,186of 17,882
    Most Constrained (LOEUF)0.30 Β· top 10%
Genes detectedSRP54
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Case study of CD19 CAR T therapy in a subject with immune-mediate necrotizing myopathy treated in the RESET-Myositis phase I/II trial.
PMID: 39245937
Mol Ther Β· 2024
1.00
2
Protein SRP54 of human signal recognition particle: cloning, expression, and comparative analysis of functional sites.
PMID: 9511762
Gene Β· 1998
0.90
3
Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
PMID: 30413969
Mol Diagn Ther Β· 2019
0.80
4
SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.
PMID: 33227812
Blood Β· 2021
0.70
5
Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.
PMID: 38589208
J Clin Pathol Β· 2024
0.60