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Gene Gene information from NCBI Gene database.
Entrez ID 6322
Gene name Scm polycomb group protein like 1
Gene symbol SCML1
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xp22.13
miRNA miRNA information provided by mirtarbase database.
257 Show/Hide all (257)
miRTarBase ID miRNA Experiments Reference
MIRT030379 hsa-miR-24-3p Microarray 19748357
MIRT1329404 hsa-miR-1224-5p CLIP-seq
MIRT1329405 hsa-miR-1225-5p CLIP-seq
MIRT1329406 hsa-miR-1269 CLIP-seq
MIRT1329407 hsa-miR-1269b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6 Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0042393 Function Histone binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300227 10580 ENSG00000047634
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UN30
Protein name Sex comb on midleg-like protein 1
Protein function Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. May be involved in spermatogenesis during
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00536 SAM_1 256 → 322 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed in fetal and adult tissues. {ECO:0000269|PubMed:9570953}.
Sequence
MMSNSSSEIDVIKTRIPTYDEDDNTILYAYETKPEFVNKEPNIVSDASCNTEEQLKTVDD
VLIHCQVIYDALQNLDKKIDVIRRKVSKIQRFHARSLWTNHKRYGYKKHSYRLVKKLKLQ
KMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFCMEEYQRAELEEDPILSRTPS
PVHPSDFSEHNCQPYYASDGATYGSSSGLCLGNPRADSIHNTYSTDHASAAPPSVTRSPV
ENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDLFRSHEIDGKALLLLTSDVL
LKHLGVKLGTAVKLCYYIDRLK
QGKCFEN
Sequence length 329
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway
Polycomb repressive complex
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 Reference Evidence Score
Gastric cancer Benign 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
Azoospermia Azoospermia Pubtator 31916079 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30693177
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 31916079 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 30693177
★★★★★
★☆☆☆☆
Found in Text Mining only