Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6731
Gene name Gene Name - the full gene name approved by the HGNC.
Signal recognition particle 72
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SRP72
Synonyms (NCBI Gene) Gene synonyms aliases
BMFF, BMFS1, HEL103
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BMFS1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 24965446, 32296183
GO:0005783 Component Endoplasmic reticulum IDA 22541560
GO:0005786 Component Signal recognition particle, endoplasmic reticulum targeting IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602122 11303 ENSG00000174780
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aplasia and myelodysplasia Autosomal dominant aplasia and myelodysplasia rs587776907
Aplastic anemia Aplastic Anemia rs113993991, rs113993993, rs864309668, rs121908974, rs199422265, rs199422270, rs104894176, rs104894180, rs28933973, rs104894182, rs28933376, rs771552960, rs786205093, rs193302876, rs113993992
View all (104 more)
Bone marrow failure syndrome Bone Marrow failure syndromes, Bone marrow failure syndrome 1, Bone marrow failure syndrome 2 rs879253818, rs368148362, rs150576702, rs770282904, rs771063992, rs1561183139, rs1561180439, rs1580531090, rs1580526958 22541560, 29146883
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 26881866
Unknown
Disease term Disease name Evidence References Source
Myeloid Leukemia acute myeloid leukemia KAT2A inhibition demonstrated anti-AML activity by inducing myeloid differentiation and apoptosis. GenCC, CBGDA
Associations from Text Mining
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