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, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this ge... See more...

Aliases for ASB10 Gene

Aliases for ASB10 Gene

  • Ankyrin Repeat And SOCS Box Containing 10 2 3 5
  • Ankyrin Repeat And SOCS Box Protein 10 3 4
  • Ankyrin Repeat And SOCS Box-Containing 10 2
  • Glaucoma 1, Open Angle, F (Adult-Onset) 2
  • ASB-10 4
  • GLC1F 3
  • ASB10 5

External Ids for ASB10 Gene

Previous HGNC Symbols for ASB10 Gene

  • GLC1F

Previous GeneCards Identifiers for ASB10 Gene

  • GC07M149119
  • GC07M150187
  • GC07M150264
  • GC07M150310
  • GC07M150503
  • GC07M150872
  • GC07M144683

Summaries for ASB10 Gene

Entrez Gene Summary for ASB10 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, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]

GeneCards Summary for ASB10 Gene

ASB10 (Ankyrin Repeat And SOCS Box Containing 10) is a Protein Coding gene. Diseases associated with ASB10 include Glaucoma 1, Open Angle, F and Glaucoma 1, Open Angle, D. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is ASB18.

UniProtKB/Swiss-Prot Summary for ASB10 Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASB10 Gene

Genomics for ASB10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASB10 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASB10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASB10

Top Transcription factor binding sites by QIAGEN in the ASB10 gene promoter:
  • c-Myb
  • HNF-4alpha1
  • HNF-4alpha2
  • POU2F1
  • POU2F1a
  • USF2

Genomic Locations for ASB10 Gene

Latest Assembly
chr7:151,175,698-151,187,832
(GRCh38/hg38)
Size:
12,135 bases
Orientation:
Minus strand

Previous Assembly
chr7:150,872,785-150,884,879
(GRCh37/hg19 by Entrez Gene)
Size:
12,095 bases
Orientation:
Minus strand

chr7:150,872,785-150,884,919
(GRCh37/hg19 by Ensembl)
Size:
12,135 bases
Orientation:
Minus strand

Genomic View for ASB10 Gene

Genes around ASB10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB10 Gene

Proteins for ASB10 Gene

  • Protein details for ASB10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXI3-ASB10_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 10
    Protein Accession:
    Q8WXI3
    Secondary Accessions:
    • A0AVH0
    • Q6ZUL6

    Protein attributes for ASB10 Gene

    Size:
    467 amino acids
    Molecular mass:
    50894 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ASB10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASB10 Gene

Post-translational modifications for ASB10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASB10 Gene

No data available for DME Specific Peptides for ASB10 Gene

Domains & Families for ASB10 Gene

Gene Families for ASB10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ASB10 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • SOCS protein, C-terminal

Suggested Antigen Peptide Sequences for ASB10 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat and SOCS box protein 10 (ASB10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXI3

UniProtKB/Swiss-Prot:

ASB10_HUMAN :
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.
  • Belongs to the ankyrin SOCS box (ASB) family.
Domain:
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.
Family:
  • Belongs to the ankyrin SOCS box (ASB) family.
genes like me logo Genes that share domains with ASB10: view

Function for ASB10 Gene

Molecular function for ASB10 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ASB10 Gene

Gene Ontology (GO) - Molecular Function for ASB10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with ASB10: view
genes like me logo Genes that share phenotypes with ASB10: view

Human Phenotype Ontology for ASB10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASB10 Gene

MGI Knock Outs for ASB10:
  • Asb10 Asb10<tm2b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASB10

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for ASB10 Gene

Localization for ASB10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASB10 Gene

Cytoplasm. Nucleus. Note=In the ciliary body, it is detected in the cytoplasm and perinuclear region of the pigmented ciliary epithelial layer. In the retina, it is detected in the nuclei of retinal ganglion cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASB10 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 3
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ASB10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 22156576
GO:0005737 cytoplasm IEA,IDA 22156576
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ASB10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASB10 Gene

Pathways & Interactions for ASB10 Gene

genes like me logo Genes that share pathways with ASB10: view

UniProtKB/Swiss-Prot Q8WXI3-ASB10_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with ASB10: view

No data available for SIGNOR curated interactions for ASB10 Gene

Drugs & Compounds for ASB10 Gene

No Compound Related Data Available

Transcripts for ASB10 Gene

mRNA/cDNA for ASB10 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASB10

Alternative Splicing Database (ASD) splice patterns (SP) for ASB10 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
SP1: - - - - -
SP2:
SP3: -
SP4: - -

Relevant External Links for ASB10 Gene

GeneLoc Exon Structure for
ASB10

Expression for ASB10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASB10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASB10 Gene

This gene is overexpressed in Muscle - Skeletal (x27.3), Heart - Left Ventricle (x17.2), and Heart - Atrial Appendage (x6.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASB10

SOURCE GeneReport for Unigene cluster for ASB10 Gene:

Hs.647081

mRNA Expression by UniProt/SwissProt for ASB10 Gene:

Q8WXI3-ASB10_HUMAN
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 levels in the lens.

Evidence on tissue expression from TISSUES for ASB10 Gene

  • Muscle(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB10 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • eye
  • head
genes like me logo Genes that share expression patterns with ASB10: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ASB10 Gene

Orthologs for ASB10 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASB10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ASB10 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASB10 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ASB10 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Asb10 29 16 30
  • 84.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Asb10 29
  • 83.44 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ASB10 30
  • 69 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASB10 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ASB10 30
  • 45 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii asb10 30
  • 45 (a)
OneToOne
Species where no ortholog for ASB10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ASB10 Gene

ENSEMBL:
Gene Tree for ASB10 (if available)
TreeFam:
Gene Tree for ASB10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASB10: view image
Alliance of Genome Resources:
Additional Orthologs for ASB10

Paralogs for ASB10 Gene

Paralogs for ASB10 Gene

(5) SIMAP similar genes for ASB10 Gene using alignment to 4 proteins:

  • ASB10_HUMAN
  • D5MNW9_HUMAN
  • F8WB38_HUMAN
  • J3KQJ5_HUMAN
genes like me logo Genes that share paralogs with ASB10: view

Variants for ASB10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASB10 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs104886462 Not Provided: Glaucoma 1, open angle, F 151,187,668(-) G/A
NM_080871.4(ASB10):c.55C>T (p.Pro19Ser)
MISSENSE
rs104886463 Not Provided: Glaucoma 1, open angle, F 151,187,667(-) G/C
NM_080871.4(ASB10):c.56C>G (p.Pro19Arg)
MISSENSE
rs104886464 Not Provided: Glaucoma 1, open angle, F 151,187,663(-) G/A
NM_080871.4(ASB10):c.60C>T (p.Ser20=)
SYNONYMOUS
rs104886465 Not Provided: Glaucoma 1, open angle, F 151,187,629(-) G/T
NM_080871.4(ASB10):c.94C>A (p.Arg32Ser)
MISSENSE
rs104886466 Not Provided: Glaucoma 1, open angle, F 151,187,608(-) G/A
NM_080871.4(ASB10):c.115C>T (p.Arg39Trp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASB10 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ASB10 Gene

Variant ID Type Subtype PubMed ID
dgv3695n106 OTHER inversion 24896259
nsv1067934 OTHER inversion 25765185
nsv1151906 OTHER inversion 26484159
nsv609034 CNV loss 21841781
nsv831188 CNV loss 17160897

Variation tolerance for ASB10 Gene

Residual Variation Intolerance Score: 98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.51; 91.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASB10 Gene

Human Gene Mutation Database (HGMD)
ASB10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB10
Leiden Open Variation Database (LOVD)
ASB10

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASB10 Gene

Disorders for ASB10 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ASB10 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
glaucoma 1, open angle, f
  • glc1f
glaucoma 1, open angle, d
  • glc1d
open-angle glaucoma
  • glaucoma simplex
axenfeld-rieger syndrome, type 2
  • rieg2
glaucoma, normal tension
  • glaucoma, normal tension, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search ASB10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASB10_HUMAN
  • Glaucoma 1, open angle, F (GLC1F) [MIM:603383]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269 PubMed:22156576}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ASB10

genes like me logo Genes that share disorders with ASB10: view

No data available for Genatlas for ASB10 Gene

Publications for ASB10 Gene

  1. Variants in ASB10 are associated with open-angle glaucoma. (PMID: 22156576) Pasutto F … Wirtz MK (Human molecular genetics 2012) 2 3 4 72
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for ASB10 Gene

Sources for ASB10 Gene