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Gene Gene information from NCBI Gene database.
Entrez ID 84250
Gene name SMC5/6 complex localization factor 1
Gene symbol SLF1
Synonyms (NCBI Gene)
ANKRD32BRCTD1BRCTxhNSE5
Chromosome 5
Chromosome location 5q15
miRNA miRNA information provided by mirtarbase database.
26 Show/Hide all (26)
miRTarBase ID miRNA Experiments Reference
MIRT630627 hsa-miR-4434 HITS-CLIP 19536157
MIRT630626 hsa-miR-4516 HITS-CLIP 19536157
MIRT630625 hsa-miR-5703 HITS-CLIP 19536157
MIRT714876 hsa-miR-516b-5p HITS-CLIP 19536157
MIRT630624 hsa-miR-4531 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37 Show/Hide all (37)
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination NAS 16810316
GO:0000781 Component Chromosome, telomeric region NAS 17589526
GO:0000786 Component Nucleosome IEA
GO:0000786 Component Nucleosome ISS
GO:0005515 Function Protein binding IPI 25931565, 26496610, 32389690, 33961781, 36373674
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618467 25408 ENSG00000133302
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQI6
Protein name SMC5-SMC6 complex localization factor protein 1 (Ankyrin repeat domain-containing protein 32) (BRCT domain-containing protein 1) (Smc5/6 localization factor 1)
Protein function Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-
PDB 8IR2 , 8IR4 , 8PEF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 811 → 907 Ankyrin repeats (3 copies) Repeat
PF16770 RTT107_BRCT_5 4 → 90 Regulator of Ty1 transposition protein 107 BRCT domain Domain
Sequence
MEDGTPKHIIQMTGFKMEEKEALVKLLLKLDCTFIKSEKYKNCTHLIAERLCKSEKFLAA
CAAGKWILTKDYIIHSAKSGRWLDETTYEW
GYKIEKDSRYSPQMQSAPKRWREELKRTGA
PGAFHRWKVVLLVRTDKRSDSLIRVLEAGKANVILPKSSPSGITHVIASNARIKAEKEKD
NFKAPFYPIQYLGDFLLEKEIQNDEDSQTNSVWTEHSNEETNKDFRKDAGFLEMKGALRE
TMYRTQKEMQNHEDVNVGSILIQHHKKEKFSGSSKDLKFVKMRNTFGSHTYENQKEIKKK
DEDIQRSYTLRRKRKKGKESNCKKGVEHEKIKSTLRRHIYNRDQKEMKNSIFAEYAKESK
AMAIKTDVDVVEIKNTLRKHIYRAQAVRYNCIRIDKQPVYNVEVKNAEFPRGVLNLIESL
IEGHFFKEAIEELSTLQAHYIPPVCVLHALLENVLQDNIDTFSGRYFHILSALLHLHPPW
KSPAMSRYYLELFQCPTCMKGAWSLVEVLIRSCLFNESFCHQISENIGSKVLHLTLLKFF
FNLIESEVQHLSQKLYDWSDSQNLKITGKAMLLEIFWSGSETSGLLTKPVNMLLEWTIYS
HKEKFKSNDVFKHELAYLLAGILGAAIDYWIFLGLKMGRNVMRHMSDDLGSYVSLSCDDF
SSQELEIFICSFSSSWLQMFVAEAVFKKLCLQSSGSVSSEPLSLQKMVYSYLPALGKTGV
LGSGKIQVSKKIGQRPCFDSQRTLLMLNGTKQKQVEGLPELLDLNLAKCSSSLKKLKKKS
EGELSCSKENCPSVVKKMNFHKTNLKGETALHRACINNQVEKLILLLSLPGIDINVKDNA
GWTPLHEACNYGNTVCVQEILQRCPEVDLLTQVDGVTPLHDALSNGHVEIGKLLLQHGGP
VLLQQRN
AKGELPLDYVVSPQIKEELFAITKIEDTVENFHAQAEKHFHYQQLEFGSFLLS
RMLLNFCSIFDLSSEFILASKGLTHLNELLMACKSHKETTSVHTDWLLDLYAGNIKTLQK
LPHILKELPENLKVCPGVHTEALMITLEMMCRSVMEFS
Sequence length 1058
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 Reference Evidence Score
Familial cancer of breast Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
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
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28741714
★★★★★
★☆☆☆☆
Found in Text Mining only