The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced t... See more...

Aliases for ASB11 Gene

Aliases for ASB11 Gene

  • Ankyrin Repeat And SOCS Box Containing 11 2 3 5
  • Ankyrin Repeat And SOCS Box Protein 11 3 4
  • ASB-11 3 4
  • Ankyrin Repeat And SOCS Box Containing 11, E3 Ubiquitin Protein Ligase 3
  • Ankyrin Repeat Domain-Containing SOCS Box Protein ASB11 3
  • DKFZp779E2460 2
  • ASB11 5

External Ids for ASB11 Gene

Previous GeneCards Identifiers for ASB11 Gene

  • GC0XM014746
  • GC0XM014127
  • GC0XM014503
  • GC0XM014663
  • GC0XM014661
  • GC0XM015061
  • GC0XM015211
  • GC0XM013060

Summaries for ASB11 Gene

Entrez Gene Summary for ASB11 Gene

  • The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for ASB11 Gene

ASB11 (Ankyrin Repeat And SOCS Box Containing 11) is a Protein Coding gene. Diseases associated with ASB11 include Lacrimal Duct Obstruction. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is ASB5.

UniProtKB/Swiss-Prot Summary for ASB11 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.

Additional gene information for ASB11 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASB11 Gene

Genomics for ASB11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASB11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ015312 Promoter 0.5 Ensembl 608.9 +1.0 1039 1.6 ATF2 ATF4 ASB11 PIGA ASB9
GH0XJ015315 Promoter 0.5 EPDnew 600.7 0.0 -4 0.1 ZNF664 ZBTB12 ASB11 lnc-ASB11-2 PIGA
GH0XJ015317 Enhancer 0.2 Ensembl 600.7 -0.7 -661 0.2 ASB11 lnc-ASB11-2 PIGA
GH0XJ015333 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 14.6 -19.7 -19660 3 SP1 CREB1 PRDM10 ZNF629 RFX1 POLR2A BACH1 JUND LARP7 PRDM1 PIGA lnc-ASB11-1 ASB11 ZRSR2 CA5B PIR MOSPD2 lnc-ASB11-2
GH0XJ015356 Enhancer 0.7 Ensembl ENCODE 12.4 -41.1 -41061 1 SP1 RBAK CEBPB FOXA2 YY1 JUND RAD21 HNF4A RXRA HLF PIGA ASB11 BMX PIR ACE2 GS1-594A7.3 piR-41405-154 VEGFD PIR-FIGF
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASB11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASB11

Top Transcription factor binding sites by QIAGEN in the ASB11 gene promoter:
  • ATF-2
  • C/EBPalpha
  • CRE-BP1
  • HOXA9
  • Meis-1a

Genomic Locations for ASB11 Gene

Genomic Locations for ASB11 Gene
chrX:15,281,697-15,315,640
(GRCh38/hg38)
Size:
33,944 bases
Orientation:
Minus strand
chrX:15,298,053-15,333,778
(GRCh37/hg19)
Size:
35,726 bases
Orientation:
Minus strand

Genomic View for ASB11 Gene

Genes around ASB11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB11 Gene

Proteins for ASB11 Gene

  • Protein details for ASB11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXH4-ASB11_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 11
    Protein Accession:
    Q8WXH4
    Secondary Accessions:
    • E9PEN1
    • Q3SYC4
    • Q7Z667

    Protein attributes for ASB11 Gene

    Size:
    323 amino acids
    Molecular mass:
    35367 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ASB11 Gene

    Alternative splice isoforms for ASB11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASB11 Gene

Post-translational modifications for ASB11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASB11 Gene

No data available for DME Specific Peptides for ASB11 Gene

Domains & Families for ASB11 Gene

Gene Families for ASB11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ASB11 Gene

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

Suggested Antigen Peptide Sequences for ASB11 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat and SOCS box protein 11 (ASB11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXH4

UniProtKB/Swiss-Prot:

ASB11_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 ASB11: view

Function for ASB11 Gene

Molecular function for ASB11 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 ASB11 Gene

Gene Ontology (GO) - Molecular Function for ASB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ASB11: view
genes like me logo Genes that share phenotypes with ASB11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASB11

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASB11 Gene

Localization for ASB11 Gene

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 ASB11 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 4
extracellular 2
cytoskeleton 1
plasma membrane 0

Gene Ontology (GO) - Cellular Components for ASB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 24337577
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASB11: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ASB11 Gene

Pathways & Interactions for ASB11 Gene

genes like me logo Genes that share pathways with ASB11: view

UniProtKB/Swiss-Prot Q8WXH4-ASB11_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IBA,IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043687 post-translational protein modification TAS --
GO:0045732 positive regulation of protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with ASB11: view

No data available for SIGNOR curated interactions for ASB11 Gene

Drugs & Compounds for ASB11 Gene

No Compound Related Data Available

Transcripts for ASB11 Gene

mRNA/cDNA for ASB11 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASB11

Alternative Splicing Database (ASD) splice patterns (SP) for ASB11 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2: - -
SP3: -

Relevant External Links for ASB11 Gene

GeneLoc Exon Structure for
ASB11

Expression for ASB11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASB11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASB11 Gene

This gene is overexpressed in Heart - Left Ventricle (x20.3), Muscle - Skeletal (x19.7), and Heart - Atrial Appendage (x9.6).

Protein differential expression in normal tissues from HIPED for ASB11 Gene

This gene is overexpressed in Tonsil (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASB11 Gene



Protein tissue co-expression partners for ASB11 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASB11

SOURCE GeneReport for Unigene cluster for ASB11 Gene:

Hs.352183

Evidence on tissue expression from TISSUES for ASB11 Gene

  • Liver(4.2)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with ASB11: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB11 Gene

Orthologs for ASB11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASB11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ASB11 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ASB11 30 31
  • 90.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASB11 30 31
  • 88.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Asb11 30
  • 86.31 (n)
Mouse
(Mus musculus)
Mammalia Asb11 30 17 31
  • 84.54 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASB11 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASB11 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ASB11 30 31
  • 72.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ASB11 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia asb11 30
  • 65.94 (n)
Zebrafish
(Danio rerio)
Actinopterygii asb11 31
  • 44 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4234 31
  • 30 (a)
OneToMany
Species where no ortholog for ASB11 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)
  • 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 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ASB11 Gene

ENSEMBL:
Gene Tree for ASB11 (if available)
TreeFam:
Gene Tree for ASB11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASB11: view image

Paralogs for ASB11 Gene

Variants for ASB11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASB11 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
782970 Benign: not provided 15,289,537(-) T/A MISSENSE_VARIANT
791377 Benign: not provided 15,287,983(-) C/T MISSENSE_VARIANT
rs144572145 - p.Ser165Leu
rs34025595 - p.Asp249Asn
rs35859007 - p.Ser263Gly

Additional dbSNP identifiers (rs#s) for ASB11 Gene

Structural Variations from Database of Genomic Variants (DGV) for ASB11 Gene

Variant ID Type Subtype PubMed ID
nsv517938 CNV gain 19592680
nsv522729 CNV gain 19592680
nsv528343 CNV gain 19592680

Variation tolerance for ASB11 Gene

Residual Variation Intolerance Score: 81.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.91; 48.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASB11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB11

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASB11 Gene

Disorders for ASB11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASB11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lacrimal duct obstruction
  • blocked lacrimal canaliculus
- elite association - COSMIC cancer census association via MalaCards
Search ASB11 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ASB11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASB11 Gene

Publications for ASB11 Gene

  1. Protein interaction screening for the ankyrin repeats and suppressor of cytokine signaling (SOCS) box (ASB) family identify Asb11 as a novel endoplasmic reticulum resident ubiquitin ligase. (PMID: 24337577) Andresen CA … Flores-Morales A (The Journal of biological chemistry 2014) 2 3
  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. MARCH8 Ubiquitinates the Hepatitis C Virus Nonstructural 2 Protein and Mediates Viral Envelopment. (PMID: 30759391) Kumar S … Einav S (Cell reports 2019) 3
  4. BIK ubiquitination by the E3 ligase Cul5-ASB11 determines cell fate during cellular stress. (PMID: 31387940) Chen FY … Chen RH (The Journal of cell biology 2019) 3
  5. Diagnostic exome sequencing in persons with severe intellectual disability. (PMID: 23033978) de Ligt J … Vissers LE (The New England journal of medicine 2012) 4

Products for ASB11 Gene

Sources for ASB11 Gene