Gene Gene information from NCBI Gene database.
Entrez ID 6731
Gene name Signal recognition particle 72
Gene symbol SRP72
Synonyms (NCBI Gene)
BMFFBMFS1HEL103
Chromosome 4
Chromosome location 4q12
Summary This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SR
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs387907189 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs587776907 CA>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
396
miRTarBase ID miRNA Experiments Reference
MIRT031562 hsa-miR-16-5p Proteomics 18668040
MIRT036345 hsa-miR-1229-3p CLASH 23622248
MIRT509442 hsa-miR-5580-3p HITS-CLIP 21572407
MIRT509441 hsa-miR-410-3p HITS-CLIP 21572407
MIRT509440 hsa-miR-5011-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005047 Function Signal recognition particle binding IPI 17254600
GO:0005515 Function Protein binding IPI 16672232, 24965446, 32296183, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IDA 22541560
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602122 11303 ENSG00000174780
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O76094
Protein name Signal recognition particle subunit SRP72 (SRP72) (Signal recognition particle 72 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). The SRP complex interacts
PDB 5M72 , 5M73 , 5WRV , 5WRW , 7NFX , 8QVW , 8QVX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17004 SRP_TPR_like 30 157 Putative TPR-like repeat Repeat
PF13181 TPR_8 176 208 Tetratricopeptide repeat Repeat
PF08492 SRP72 531 588 SRP72 RNA-binding domain Domain
Sequence
MASGGSGGVSVPALWSEVNRYGQNGDFTRALKTVNKILQINKDDVTALHCKVVCLIQNGS
FKEALNVINTHTKVLANNSLSFEKAYCEYRLNRIENALKTIESANQQTDKLKELYGQVLY
RLERYDECLAVYRDLVRNSQDDYDEERKTNLSAVVAA
QSNWEKVVPENLGLQEGTHELCY
NTACALIGQGQLNQAMKILQKAEDLCRR
SLSEDTDGTEEDPQAELAIIHGQMAYILQLQG
RTEEALQLYNQIIKLKPTDVGLLAVIANNIITINKDQNVFDSKKKVKLTNAEGVEFKLSK
KQLQAIEFNKALLAMYTNQAEQCRKISASLQSQSPEHLLPVLIQAAQLCREKQHTKAIEL
LQEFSDQHPENAAEIKLTMAQLKISQGNISKACLILRSIEELKHKPGMVSALVTMYSHEE
DIDSAIEVFTQAIQWYQNHQPKSPAHLSLIREAANFKLKYGRKKEAISDLQQLWKQNPKD
IHTLAQLISAYSLVDPEKAKALSKHLPSSDSMSLKVDVEALENSAGATYIRKKGGKVTGD
SQPKEQGQGDLKKKKKKKKGKLPKNYDPKVTPDPERWLPMRERSYYRG
RKKGKKKDQIGK
GTQGATAGASSELDASKTVSSPPTSPRPGSAATVSASTSNIIPPRHQKPAGAPATKKKQQ
QKKKKGGKGGW
Sequence length 671
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein export   SRP-dependent cotranslational protein targeting to membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
GenCC
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Autosomal dominant aplasia and myelodysplasia Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
ClinVar, Disgenet, Orphanet
ClinVar, Disgenet, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
BONE MARROW FAILURE SYNDROME 1 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Aplastic Aplastic anemia Pubtator 22541560 Associate
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 31254415
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal dominant aplasia and myelodysplasia Aplasia And Myelodysplasia Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Bone marrow failure syndrome 1 Bone Marrow Failure Syndrome UNIPROT_DG 22541560
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bone marrow failure syndrome 1 Bone Marrow Failure Syndrome ORPHANET_DG 22541560
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bone marrow failure syndrome 1 Bone Marrow Failure Syndrome GENOMICS_ENGLAND_DG 29146883
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bone marrow failure syndrome 1 Bone Marrow Failure Syndrome CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bone marrow failure syndrome 1 Bone Marrow Failure Syndrome CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bone marrow failure syndrome 2 Bone Marrow Failure Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only