Gene Gene information from NCBI Gene database.
Entrez ID 10927
Gene name Spindlin 1
Gene symbol SPIN1
Synonyms (NCBI Gene)
SPINTDRD24
Chromosome 9
Chromosome location 9q22.1
miRNA miRNA information provided by mirtarbase database.
1262
miRTarBase ID miRNA Experiments Reference
MIRT020543 hsa-miR-155-5p Proteomics 18668040
MIRT022322 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT030784 hsa-miR-21-5p Microarray 18591254
MIRT040485 hsa-miR-598-3p CLASH 23622248
MIRT1384039 hsa-miR-103b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISS
GO:0005515 Function Protein binding IPI 24589551, 25277244, 29061846
GO:0005634 Component Nucleus IDA 29061846
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
609936 11243 ENSG00000106723
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y657
Protein name Spindlin-1 (Ovarian cancer-related protein) (Spindlin1)
Protein function Chromatin reader that specifically recognizes and binds histone H3 both trimethylated at 'Lys-4' and 'Lys-9' (H3K4me3K9me3) and is involved in piRNA-mediated retrotransposon silencing during spermatogenesis (PubMed:33574238). Plays a key role in
PDB 2NS2 , 4H75 , 4MZF , 4MZG , 4MZH , 5JSG , 5JSJ , 5Y5W , 6I8B , 6I8L , 6I8Y , 6QPL , 7BQZ , 7BU9 , 7CNA , 7E9M , 7EA1 , 7OCB , 8GTX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02513 Spin-Ssty 54 103 Spin/Ssty Family Repeat
PF02513 Spin-Ssty 133 182 Spin/Ssty Family Repeat
PF02513 Spin-Ssty 214 259 Spin/Ssty Family Repeat
Tissue specificity TISSUE SPECIFICITY: Highly expressed in ovarian cancer tissues. {ECO:0000269|PubMed:22258766}.
Sequence
MKTPFGKTPGQRSRADAGHAGVSANMMKKRTSHKKHRSSVGPSKPVSQPRRNIVGCRIQH
GWKEGNGPVTQWKGTVLDQVPVNPSLYLIKYDGFDCVYGLELN
KDERVSALEVLPDRVAT
SRISDAHLADTMIGKAVEHMFETEDGSKDEWRGMVLARAPVMNTWFYITYEKDPVLYMYQ
LL
DDYKEGDLRIMPDSNDSPPAEREPGEVVDSLVGKQVEYAKEDGSKRTGMVIHQVEAKP
SVYFIKFDDDFHIYVYDLV
KTS
Sequence length 262
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations