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Aliases for ASB6 Gene

Aliases for ASB6 Gene

  • Ankyrin Repeat And SOCS Box Containing 6 2 3 5
  • Ankyrin Repeat And SOCS Box-Containing 6 2
  • ASB-6 4

External Ids for ASB6 Gene

Previous GeneCards Identifiers for ASB6 Gene

  • GC09U990201
  • GC09M124043
  • GC09M125852
  • GC09M127772
  • GC09M129476
  • GC09M131436
  • GC09M132396
  • GC09M101995

Summaries for ASB6 Gene

Entrez Gene Summary for ASB6 Gene

  • The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for ASB6 Gene

ASB6 (Ankyrin Repeat And SOCS Box Containing 6) is a Protein Coding gene. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation.

UniProtKB/Swiss-Prot for ASB6 Gene

  • Probable 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.

Gene Wiki entry for ASB6 Gene

Additional gene information for ASB6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASB6 Gene

Genomics for ASB6 Gene

GeneHancer (GH) Regulatory Elements for ASB6 Gene

Promoters and enhancers for ASB6 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
GH09I129636 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 558.2 +2.1 2059 6.3 CLOCK MLX FEZF1 DMAP1 ZNF213 E2F8 ZNF143 SP3 NFYC SSRP1 ASB6 ENSG00000234789 PIR46781 PIR51438 NUP188 FUBP3 TOR1B LOC101929314 NTMT1 C9orf50
GH09I129882 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -248.0 -248000 14.6 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B NEUROD1 SIN3A FEZF1 YBX1 USP20 C9orf78 FNBP1 TOR1A TOR1B FUBP3 EXOSC2 ABL1 ASB6 ENSG00000230684
GH09I129693 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.7 -57.4 -57426 11.8 ATF1 ARNT SIN3A GLIS2 E2F8 FOS SP3 SMARCA4 GLIS1 KDM1A PIR44517 PRRX2 ASB6 ENSG00000234789 PTGES TOR1A C9orf78 USP20 C9orf50 PRRX2-AS1
GH09I129776 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -135.3 -135306 2.5 HDGF PKNOX1 ARNT NEUROD1 FEZF1 ZNF2 ZNF766 E2F8 ZNF143 FOS PTGES TOR1B C9orf78 TOR1A PRRX2-AS1 PRRX2 ENSG00000234789 ASB6 USP20 C9orf50
GH09I129773 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -131.6 -131625 1.2 CLOCK FOXA2 ARID4B BRCA1 FOS DEK SMARCB1 STAT3 HMBOX1 KDM1A TOR1B USP20 PRRX2-AS1 ASB6 ENSG00000234789 C9orf78 FNBP1 PTGES GC09M129739
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASB6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASB6 gene promoter:

Genomic Locations for ASB6 Gene

Genomic Locations for ASB6 Gene
chr9:129,634,604-129,642,169
(GRCh38/hg38)
Size:
7,566 bases
Orientation:
Minus strand
chr9:132,396,883-132,404,448
(GRCh37/hg19)

Genomic View for ASB6 Gene

Genes around ASB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB6 Gene

Proteins for ASB6 Gene

  • Protein details for ASB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWX5-ASB6_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 6
    Protein Accession:
    Q9NWX5
    Secondary Accessions:
    • Q5SZB7
    • Q9BV15

    Protein attributes for ASB6 Gene

    Size:
    421 amino acids
    Molecular mass:
    47136 Da
    Quaternary structure:
    • Binds APS. Identified in a complex with ELOB and ELOC (By similarity). Interacts with CUL5 and RNF7.

    Alternative splice isoforms for ASB6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASB6 Gene

Post-translational modifications for ASB6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASB6 Gene

No data available for DME Specific Peptides for ASB6 Gene

Domains & Families for ASB6 Gene

Gene Families for ASB6 Gene

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

Suggested Antigen Peptide Sequences for ASB6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NWX5

UniProtKB/Swiss-Prot:

ASB6_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 ASB6: view

Function for ASB6 Gene

Molecular function for ASB6 Gene

UniProtKB/Swiss-Prot Function:
Probable 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 ASB6 Gene

Gene Ontology (GO) - Molecular Function for ASB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ASB6: view

Phenotypes for ASB6 Gene

GenomeRNAi human phenotypes for ASB6:
genes like me logo Genes that share phenotypes with ASB6: view

miRNA for ASB6 Gene

miRTarBase miRNAs that target ASB6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASB6 Gene

Localization for ASB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASB6 Gene

Cytoplasm.

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 ASB6 gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ASB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ASB6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASB6 Gene

Pathways & Interactions for ASB6 Gene

genes like me logo Genes that share pathways with ASB6: view

UniProtKB/Swiss-Prot Q9NWX5-ASB6_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB6 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 ASB6: view

No data available for SIGNOR curated interactions for ASB6 Gene

Drugs & Compounds for ASB6 Gene

No Compound Related Data Available

Transcripts for ASB6 Gene

Unigene Clusters for ASB6 Gene

Ankyrin repeat and SOCS box containing 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASB6 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6
SP1: - -
SP2: -
SP3: - - -
SP4:
SP5:

Relevant External Links for ASB6 Gene

GeneLoc Exon Structure for
ASB6
ECgene alternative splicing isoforms for
ASB6

Expression for ASB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASB6 Gene

Protein differential expression in normal tissues from HIPED for ASB6 Gene

This gene is overexpressed in Cervix (51.9) and Bone (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASB6 Gene



Protein tissue co-expression partners for ASB6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASB6 Gene:

ASB6

SOURCE GeneReport for Unigene cluster for ASB6 Gene:

Hs.125037

Evidence on tissue expression from TISSUES for ASB6 Gene

  • Nervous system(4.5)
  • Blood(4)
genes like me logo Genes that share expression patterns with ASB6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB6 Gene

Orthologs for ASB6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASB6 34 33
  • 99.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASB6 34 33
  • 90.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASB6 33 34
  • 89.31 (n)
oppossum
(Monodelphis domestica)
Mammalia ASB6 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASB6 34
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asb6 33
  • 83.97 (n)
mouse
(Mus musculus)
Mammalia Asb6 16 34 33
  • 83.74 (n)
chicken
(Gallus gallus)
Aves ASB6 34 33
  • 70.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASB6 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asb6 33
  • 71.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68811 33
zebrafish
(Danio rerio)
Actinopterygii asb6 34 33
  • 59.72 (n)
OneToOne
Dr.13589 33
Species where no ortholog for ASB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASB6 Gene

ENSEMBL:
Gene Tree for ASB6 (if available)
TreeFam:
Gene Tree for ASB6 (if available)

Paralogs for ASB6 Gene

(1) SIMAP similar genes for ASB6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ASB6: view

No data available for Paralogs for ASB6 Gene

Variants for ASB6 Gene

Sequence variations from dbSNP and Humsavar for ASB6 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000035606 -- 129,635,170(-) G/A 3_prime_UTR_variant
rs1000276973 -- 129,643,970(-) G/A upstream_transcript_variant
rs1000453513 -- 129,641,772(-) C/T intron_variant
rs1000475577 -- 129,638,833(-) A/G intron_variant
rs1000612747 -- 129,642,760(-) T/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ASB6 Gene

Variant ID Type Subtype PubMed ID
nsv1046477 CNV gain 25217958
nsv469901 CNV loss 18288195
nsv831731 CNV gain+loss 17160897
nsv951784 CNV deletion 24416366

Variation tolerance for ASB6 Gene

Residual Variation Intolerance Score: 26.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASB6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASB6 Gene

Disorders for ASB6 Gene

Additional Disease Information for ASB6

No disorders were found for ASB6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASB6 Gene

Publications for ASB6 Gene

  1. ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. (PMID: 16325183) Kohroki J … Masuho Y (FEBS letters 2005) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for ASB6 Gene

Sources for ASB6 Gene

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