ASB10 (ankyrin repeat and SOCS box containing 10)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
136371
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin repeat and SOCS box containing 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASB10
Synonyms (NCBI Gene) Gene synonyms aliases
GLC1F
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GLC1F
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q36.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs104886474 C>G Pathogenic Missense variant, coding sequence variant
rs104886478 G>A Pathogenic Synonymous variant, coding sequence variant
rs104886488 C>T Likely-benign, pathogenic Missense variant, intron variant, coding sequence variant
rs151344606 G>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
miRTarBase ID miRNA Experiments Reference
MIRT801862 hsa-miR-1270 CLIP-seq
MIRT801863 hsa-miR-155 CLIP-seq
MIRT801864 hsa-miR-4683 CLIP-seq
MIRT801865 hsa-miR-620 CLIP-seq
MIRT2176550 hsa-miR-4438 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IDA 22156576
GO:0005737 Component Cytoplasm IDA 22156576
GO:0005829 Component Cytosol TAS
GO:0016567 Process Protein ubiquitination IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615054 17185 ENSG00000146926
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8WXI3
Protein name Ankyrin repeat and SOCS box protein 10 (ASB-10)
Protein function May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 101 → 178 Ankyrin repeats (3 copies) Repeat
PF13637 Ank_4 116 → 168 Repeat
PF12796 Ank_2 162 → 245 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 185 → 265 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 266 → 361 Ankyrin repeats (3 copies) Repeat
PF07525 SOCS_box 422 → 460 SOCS box Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the eye. The highest expression is observed in the iris, with moderate levels in the trabecular meshwork (TM), the lamina, and the optic nerve; slightly lower levels in the ciliary body, retina, and choroid; and very low l
Sequence 
MLMSWSPEECKGQGEPLDDRHPLCARLVEKPSRGSEEHLKSGPGPIVTRTASGPALAFWQ
AVLAGDVGCVSRILADSSTGLAPDSVFDTSDPERWRDFRFNIRALRLWSLTYEEELTTPL
HVAASRGHTEVLRLLLRRRARPDSAPGGRTALHEACAAGHTACVHVLLVAGADPNIADQD
GKRPLHLCRGPGTLECAELLLRFGARVDGRSEEEEETPLHVAARLGHVELADLLLRRGAC
PDARNAEGWTPLLAACDVRCQSITDAEATTARCLQLCSLLLSAGADADAADQDKQRPLHL
ACRRGHAAVVELLLSCGVSANTMDYGGHTPLHCALQGPAAALAQSPEHVVRALLNHGAVR
VWPGALPKVLERWSTCPRTIEVLMNTYSVVQLPEEAVGLVTPETLQKHQRFYSSLFALVR
QPRSLQHLSRCALRSHLEGSLPQALPRLPLPPRLLRYLQLDFEGVLY
Sequence length 467
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Glaucoma Glaucoma, Open-Angle, GLAUCOMA 1, OPEN ANGLE, F (disorder) rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)		 22156576
Open angle glaucoma NON RARE IN EUROPE: Primary adult open-angle glaucoma rs28939688, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs137854858, rs1553534421, rs774258585
Show/Hide Text Mining Associations (4)
Associations from Text Mining
Disease Name Relationship Type References
Embolic Stroke Associate 26355258
Glaucoma Associate 22156576
Glaucoma Open Angle Associate 22156576, 22798626, 23901248
Low Tension Glaucoma Associate 20309402