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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
166
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs76774105 RCV005921564
Autosomal dominant aplasia and myelodysplasia Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs116799047, rs572275305, rs11610, rs7700034, rs375436807, rs369761160, rs763130641, rs377395395, rs192401229, rs771569541, rs760548618, rs12513091, rs763655714, rs886059498, rs541665813
View all (69 more)
RCV005232381
RCV005232383
RCV001810120
RCV001810150
RCV002506848
RCV002492057
RCV005055191
RCV002466798
RCV000310610
RCV003337780
RCV005036797
RCV000364512
RCV000279818
RCV000315753
RCV000288069
RCV000353198
RCV000370673
RCV000330791
RCV000382011
RCV000342768
RCV005602062
RCV000266588
RCV000321084
RCV000378058
RCV000391409
RCV000263972
RCV000355312
RCV000372740
RCV000295395
RCV000386129
RCV000346644
RCV000345332
RCV000340523
RCV000260891
RCV000313798
RCV000273854
RCV000285487
RCV000376371
RCV000312195
RCV000272329
RCV000391775
RCV000319836
RCV000325091
RCV000363461
RCV000281124
RCV000372097
RCV000363241
RCV000293187
RCV000350488
RCV000304944
RCV000361991
RCV000333970
RCV000294141
RCV000305756
RCV000393078
RCV000272257
RCV000401507
RCV000321410
RCV000262862
RCV000396841
RCV000398602
RCV000300710
RCV000382993
RCV000325037
RCV005628165
RCV004573675
RCV001151985
RCV000024352
RCV000024353
RCV005034045
RCV005628146
RCV001151984
RCV001153246
RCV001155843
RCV001155845
RCV001157548
RCV001152087
RCV001152088
RCV001153351
RCV001153352
RCV001155963
RCV001155964
RCV001155965
RCV001157665
RCV001157666
RCV001157667
RCV001157668
RCV001153247
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs76774105, rs17086898 RCV005921573
RCV005924710
Colon adenocarcinoma Uncertain significance rs2545754987 RCV005927102
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Absent patella Associate 22541560
Anemia Aplastic Associate 22541560
GATA2 Deficiency Associate 26693794
Leukemia Myeloid Acute Associate 26693794
Neural Tube Defects Associate 22541560