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Aliases for ASB4 Gene

Aliases for ASB4 Gene

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

External Ids for ASB4 Gene

Previous GeneCards Identifiers for ASB4 Gene

  • GC07P093650
  • GC07P094713
  • GC07P094727
  • GC07P094759
  • GC07P094953
  • GC07P095107
  • GC07P089722
  • GC07P095478

Summaries for ASB4 Gene

Entrez Gene Summary for ASB4 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. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]

GeneCards Summary for ASB4 Gene

ASB4 (Ankyrin Repeat And SOCS Box Containing 4) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include enzyme binding and ubiquitin protein ligase binding. An important paralog of this gene is ASB18.

UniProtKB/Swiss-Prot for ASB4 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. Promotes differentiation and maturation of the vascular lineage by an oxygen-dependent mechanism (By similarity).

Additional gene information for ASB4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASB4 Gene

Genomics for ASB4 Gene

GeneHancer (GH) Regulatory Elements for ASB4 Gene

Promoters and enhancers for ASB4 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
GH07J095475 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.4 +15.1 15094 1.7 ELF3 ATF1 ARID4B SIN3A RAD21 RFX5 ZNF335 ARID2 ZNF143 RCOR1 ASB4 ENSG00000233942 GC07M095530
GH07J095485 Promoter 0.6 EPDnew 650.3 +24.4 24382 0.1 EZH2 ASB4 PON3 PON1 ENSG00000233942 GC07M095530
GH07J095395 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 25.5 -64.7 -64653 2.3 PKNOX1 RB1 ARID4B SIN3A DMAP1 ZNF48 RAD21 RARA YY1 EGR1 PON3 ASB4 ENSG00000273138
GH07J095429 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 11.3 -28.7 -28746 6.8 HDGF SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 PON2 PON3 ASB4 PON1 ENSG00000233942 ENSG00000273138
GH07J095420 Enhancer 0.7 ENCODE 28.9 -40.2 -40179 1.5 SOX13 EBF1 CEBPG KLF5 POLR2A ATF7 IKZF2 RUNX3 MAFK SOX5 ASB4 PON2 PON3 PON1 ENSG00000273138
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASB4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASB4 gene promoter:
  • Elk-1
  • RSRFC4
  • oct-B3
  • Oct-B1
  • oct-B2
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B

Genomic Locations for ASB4 Gene

Genomic Locations for ASB4 Gene
chr7:95,461,542-95,540,232
(GRCh38/hg38)
Size:
78,691 bases
Orientation:
Plus strand
chr7:95,107,756-95,169,544
(GRCh37/hg19)
Size:
61,789 bases
Orientation:
Plus strand

Genomic View for ASB4 Gene

Genes around ASB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB4 Gene

Proteins for ASB4 Gene

  • Protein details for ASB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y574-ASB4_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 4
    Protein Accession:
    Q9Y574
    Secondary Accessions:
    • A4D1H6
    • O14586
    • Q14D68
    • Q8TBT2

    Protein attributes for ASB4 Gene

    Size:
    426 amino acids
    Molecular mass:
    48195 Da
    Quaternary structure:
    • Interacts with HIF1AN. Component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex formed of CUL2 or CUL5, Elongin BC (ELOB and ELOC), RBX1 and ASB4.

    Alternative splice isoforms for ASB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASB4 Gene

Post-translational modifications for ASB4 Gene

  • Hydroxylation at Asn-246 by HIF1AN may provide an oxygen-dependent regulation mechanism for the function of ASB4 in promoting vascular differentiation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASB4 Gene

No data available for DME Specific Peptides for ASB4 Gene

Domains & Families for ASB4 Gene

Gene Families for ASB4 Gene

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

Suggested Antigen Peptide Sequences for ASB4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y574

UniProtKB/Swiss-Prot:

ASB4_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 ASB4: view

Function for ASB4 Gene

Molecular function for ASB4 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. Promotes differentiation and maturation of the vascular lineage by an oxygen-dependent mechanism (By similarity).

Phenotypes From GWAS Catalog for ASB4 Gene

Gene Ontology (GO) - Molecular Function for ASB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IEA --
GO:0019899 enzyme binding IEA --
GO:0031625 ubiquitin protein ligase binding IEA,IBA --
GO:0061630 ubiquitin protein ligase activity IEA --
genes like me logo Genes that share ontologies with ASB4: view
genes like me logo Genes that share phenotypes with ASB4: view

Animal Models for ASB4 Gene

MGI Knock Outs for ASB4:
  • Asb4 Asb4<tm1.2Cpat>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASB4 Gene

Localization for ASB4 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 ASB4 gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ASB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IBA --
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0031462 Cul2-RING ubiquitin ligase complex IDA,IEA 17636018
genes like me logo Genes that share ontologies with ASB4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ASB4 Gene

Pathways & Interactions for ASB4 Gene

genes like me logo Genes that share pathways with ASB4: view

UniProtKB/Swiss-Prot Q9Y574-ASB4_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB4 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 --
GO:0051865 protein autoubiquitination IEA --
GO:2001214 positive regulation of vasculogenesis ISS,IEA --
genes like me logo Genes that share ontologies with ASB4: view

No data available for SIGNOR curated interactions for ASB4 Gene

Drugs & Compounds for ASB4 Gene

No Compound Related Data Available

Transcripts for ASB4 Gene

mRNA/cDNA for ASB4 Gene

Unigene Clusters for ASB4 Gene

Ankyrin repeat and SOCS box containing 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASB4 Gene

No ASD Table

Relevant External Links for ASB4 Gene

GeneLoc Exon Structure for
ASB4
ECgene alternative splicing isoforms for
ASB4

Expression for ASB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASB4 Gene

This gene is overexpressed in Adrenal Gland (x25.3), Muscle - Skeletal (x7.7), and Pituitary (x4.5).

Protein differential expression in normal tissues from HIPED for ASB4 Gene

This gene is overexpressed in Liver, secretome (41.1) and Heart (27.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASB4 Gene



Protein tissue co-expression partners for ASB4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASB4 Gene:

ASB4

SOURCE GeneReport for Unigene cluster for ASB4 Gene:

Hs.602765

Evidence on tissue expression from TISSUES for ASB4 Gene

  • Adrenal gland(4.3)
genes like me logo Genes that share expression patterns with ASB4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB4 Gene

Orthologs for ASB4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASB4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASB4 34 33
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASB4 34 33
  • 91.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASB4 34 33
  • 91.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Asb4 16 34 33
  • 85.68 (n)
rat
(Rattus norvegicus)
Mammalia Asb4 33
  • 85.37 (n)
oppossum
(Monodelphis domestica)
Mammalia ASB4 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASB4 34 33
  • 73.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASB4 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asb4 33
  • 68.26 (n)
Str.12472 33
zebrafish
(Danio rerio)
Actinopterygii asb4 34 33
  • 61.95 (n)
OneToOne
Species where no ortholog for ASB4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 ASB4 Gene

ENSEMBL:
Gene Tree for ASB4 (if available)
TreeFam:
Gene Tree for ASB4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASB4: view image

Paralogs for ASB4 Gene

Paralogs for ASB4 Gene

(3) SIMAP similar genes for ASB4 Gene using alignment to 1 proteins:

  • ASB4_HUMAN
genes like me logo Genes that share paralogs with ASB4: view

Variants for ASB4 Gene

Sequence variations from dbSNP and Humsavar for ASB4 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000049174 -- 95,496,745(+) G/T intron_variant
rs1000056134 -- 95,502,267(+) A/G intron_variant
rs1000110419 -- 95,510,454(+) A/G intron_variant
rs1000115896 -- 95,498,131(+) A/G intron_variant
rs1000118602 -- 95,543,622(+) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASB4 Gene

Variant ID Type Subtype PubMed ID
nsv1023193 CNV gain 25217958

Variation tolerance for ASB4 Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.89; 48.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASB4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASB4 Gene

Disorders for ASB4 Gene

Additional Disease Information for ASB4

No disorders were found for ASB4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASB4 Gene

Publications for ASB4 Gene

  1. Cloning and characterization of the genes encoding the ankyrin repeat and SOCS box-containing proteins Asb-1, Asb-2, Asb-3 and Asb-4. (PMID: 11111040) Kile BT … Alexander WS (Gene 2000) 3 4 22 58
  2. Ankyrin repeat and SOCS box containing protein 4 (Asb-4) interacts with GPS1 (CSN1) and inhibits c-Jun NH2-terminal kinase activity. (PMID: 17276034) Li JY … Mulholland MW (Cellular signalling 2007) 3 22 58
  3. ASB4 is a hydroxylation substrate of FIH and promotes vascular differentiation via an oxygen-dependent mechanism. (PMID: 17636018) Ferguson JE … Patterson C (Molecular and cellular biology 2007) 3 22 58
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for ASB4 Gene

Sources for ASB4 Gene

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