Gene Gene information from NCBI Gene database.
Entrez ID 23353
Gene name Sad1 and UNC84 domain containing 1
Gene symbol SUN1
Synonyms (NCBI Gene)
UNC84A
Chromosome 7
Chromosome location 7p22.3
Summary This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by R
miRNA miRNA information provided by mirtarbase database.
409
miRTarBase ID miRNA Experiments Reference
MIRT029149 hsa-miR-26b-5p Microarray 19088304
MIRT041459 hsa-miR-193b-3p CLASH 23622248
MIRT040822 hsa-miR-18a-3p CLASH 23622248
MIRT171597 hsa-miR-15a-5p HITS-CLIP 22473208
MIRT171603 hsa-miR-15b-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000781 Component Chromosome, telomeric region IEA
GO:0001503 Process Ossification IEA
GO:0005515 Function Protein binding IPI 18396275, 22632968, 24375709, 28716842, 33393904, 33961781, 38291267
GO:0005521 Function Lamin binding IEA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607723 18587 ENSG00000164828
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94901
Protein name SUN domain-containing protein 1 (Protein unc-84 homolog A) (Sad1/unc-84 protein-like 1)
Protein function As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton (PubMed:18039933, PubMed:18396275). The nucleocytoplasmic interactions established by the L
PDB 6R15 , 6R16 , 6R2I , 7E34 , 7Z8Y , 8AU0 , 8B46 , 8B5X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09387 MRP 62 318 Mitochondrial RNA binding protein MRP Domain
PF18580 HTH_SUN2 574 632 SUN2 helix-turn-helix domain Domain
PF07738 Sad1_UNC 675 810 Sad1 / UNC-like C-terminal Family
Sequence
MDFSRLHMYSPPQCVPENTGYTYALSSSYSSDALDFETEHKLDPVFDSPRMSRRSLRLAT
TACTLGDGEAVGADSGTSSAVSLKNRAARTTKQRRSTNKSAFSINHVSRQVTSSGVSHGG
TVSLQDAVTRRPPVLDESWIREQTTVDHFWGLDDDGDLKGGNKAAIQGNGDVGAAAATAH
NGFSCSNCSMLSERKDVLTAHPAAPGPVSRVYSRDRNQKCDDCKGKRHLDAHPGRAGTLW
HIWACAGYFLLQILRRIGAVGQAVSRTAWSALWLAVVAPGKAASGVFWWLGIGWYQFVTL
ISWLNVFLLTRCLRNICK
FLVLLIPLFLLLAGLSLRGQGNFFSFLPVLNWASMHRTQRVD
DPQDVFKPTTSRLKQPLQGDSEAFPWHWMSGVEQQVASLSGQCHHHGENLRELTTLLQKL
QARVDQMEGGAAGPSASVRDAVGQPPRETDFMAFHQEHEVRMSHLEDILGKLREKSEAIQ
KELEQTKQKTISAVGEQLLPTVEHLQLELDQLKSELSSWRHVKTGCETVDAVQERVDVQV
REMVKLLFSEDQQGGSLEQLLQRFSSQFVSKGDLQTMLRDLQLQILRNVTHHVSVTKQLP
TSEAVVSAVSEAGASGITEAQARAIVNSALKL
YSQDKTGMVDFALESGGGSILSTRCSET
YETKTALMSLFGIPLWYFSQSPRVVIQPDIYPGNCWAFKGSQGYLVVRLSMMIHPAAFTL
EHIPKTLSPTGNISSAPKDFAVYGLENEYQEEGQLLGQFTYDQDGESLQMFQALKRPDDT
AFQIVELRIFSNWGHPEYTCLYRFRVHGEP
VK
Sequence length 812
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cytoskeleton in muscle cells  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
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
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Aging Premature Associate 30474255
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Inhibit 26175118
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 26474971, 26962703
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Associate 37840136
★☆☆☆☆
Found in Text Mining only
Carotid Stenosis Associate 31589004
★☆☆☆☆
Found in Text Mining only
Charcot Marie Tooth Disease Associate 22555292
★☆☆☆☆
Found in Text Mining only
Charcot Marie Tooth disease Type 2B Associate 22555292
★☆☆☆☆
Found in Text Mining only
Fibrosis Inhibit 37840136
★☆☆☆☆
Found in Text Mining only
Heart Failure Inhibit 37840136
★☆☆☆☆
Found in Text Mining only
HIV Infections Inhibit 34592156
★☆☆☆☆
Found in Text Mining only