Gene Gene information from NCBI Gene database.
Entrez ID 55234
Gene name SMU1 DNA replication regulator and spliceosomal factor
Gene symbol SMU1
Synonyms (NCBI Gene)
BWDSMU-1fSAP57
Chromosome 9
Chromosome location 9p21.1
miRNA miRNA information provided by mirtarbase database.
1321
miRTarBase ID miRNA Experiments Reference
MIRT038699 hsa-miR-30c-2-3p CLASH 23622248
MIRT036086 hsa-miR-1296-5p CLASH 23622248
MIRT035846 hsa-miR-548o-3p CLASH 23622248
MIRT716885 hsa-miR-551b-5p HITS-CLIP 19536157
MIRT716884 hsa-miR-8063 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome ISS
GO:0000398 Process MRNA splicing, via spliceosome IDA 28781166
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0005515 Function Protein binding IPI 21516116, 22365833, 25416956, 28514442, 32296183, 32814053, 33961781, 34694367
GO:0005634 Component Nucleus IDA 28781166
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617811 18247 ENSG00000122692
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2TAY7
Protein name WD40 repeat-containing protein SMU1 (Smu-1 suppressor of mec-8 and unc-52 protein homolog) [Cleaved into: WD40 repeat-containing protein SMU1, N-terminally processed]
Protein function Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:28781166). Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal accumulation of IK (PubMed:24945353). Required for normal mitotic spindl
PDB 5O9Z , 6AHD , 6Q8F , 6Q8I , 6Q8J , 8H6K , 8H6L , 8QO9 , 8QZS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17814 LisH_TPL 7 36 Domain
PF00400 WD40 203 242 WD domain, G-beta repeat Repeat
PF00400 WD40 252 292 WD domain, G-beta repeat Repeat
PF00400 WD40 296 334 WD domain, G-beta repeat Repeat
PF00400 WD40 339 377 WD domain, G-beta repeat Repeat
PF00400 WD40 474 512 WD domain, G-beta repeat Repeat
Sequence
MSIEIESSDVIRLIMQYLKENSLHRALATLQEETTVSLNTVDSIESFVADINSGHWDTVL
QAIQSLKLPDKTLIDLYEQVVLELIELRELGAARSLLRQTDPMIMLKQTQPERYIHLENL
LARSYFDPREAYPDGSSKEKRRAAIAQALAGEVSVVPPSRLMALLGQALKWQQHQGLLPP
GMTIDLFRGKAAVKDVEEEKFPTQLSRHIKFGQKSHVECARFSPDGQYLVTGSVDGFIEV
WN
FTTGKIRKDLKYQAQDNFMMMDDAVLCMCFSRDTEMLATGAQDGKIKVWKIQSGQCLR
RFERAHSKGVTCLSFSKDSSQILSASFDQTIRIH
GLKSGKTLKEFRGHSSFVNEATFTQD
GHYIISASSDGTVKIWN
MKTTECSNTFKSLGSTAGTDITVNSVILLPKNPEHFVVCNRSN
TVVIMNMQGQIVRSFSSGKREGGDFVCCALSPRGEWIYCVGEDFVLYCFSTVTGKLERTL
TVHEKDVIGIAHHPHQNLIATYSEDGLLKLWK
P
Sequence length 513
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Familial cancer of breast Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
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
Cardiomyopathies Cardiomyopathy Pubtator 35971449 Associate
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 31385554
★☆☆☆☆
Found in Text Mining only