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Aliases for ASB1 Gene

Aliases for ASB1 Gene

  • Ankyrin Repeat And SOCS Box Containing 1 2 3 5
  • ASB-1 3 4
  • Ankyrin Repeat And SOCS Box-Containing 1 2
  • Ankyrin Repeat And SOCS Box Protein 1 3
  • KIAA1146 4

External Ids for ASB1 Gene

Previous GeneCards Identifiers for ASB1 Gene

  • GC02P237384
  • GC02P238017
  • GC02P239352
  • GC02P239622
  • GC02P239117
  • GC02P239000
  • GC02P231126

Summaries for ASB1 Gene

Entrez Gene Summary for ASB1 Gene

  • The protein encoded by this gene contains an 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, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]

GeneCards Summary for ASB1 Gene

ASB1 (Ankyrin Repeat And SOCS Box Containing 1) is a Protein Coding gene. Diseases associated with ASB1 include Phobic Disorder. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is ASB12.

UniProtKB/Swiss-Prot for ASB1 Gene

  • May play a role in testis development (By similarity). Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Gene Wiki entry for ASB1 Gene

Additional gene information for ASB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASB1 Gene

Genomics for ASB1 Gene

GeneHancer (GH) Regulatory Elements for ASB1 Gene

Promoters and enhancers for ASB1 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
GH02J238423 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 657.6 -0.6 -551 5.9 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 POLR2B ZNF207 ZNF143 SP3 ASB1 ENSG00000229915 GC02M238425 TRAF3IP1 LOC151174 LOC105373961 GC02P238413
GH02J238438 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +13.5 13542 3.9 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 BRCA1 YY1 SLC30A9 ELK1 TRAF3IP1 ASB1 RNU6-234P LOC151174 LOC105373961 PIR56687 ENSG00000229915
GH02J237963 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 6 -460.0 -459966 6.2 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D UBE2F UBE2F-SCLY ILKAP SCLY RAMP1 ESPNL KLHL30 ASB1 HES6 LRRFIP1
GH02J238449 Enhancer 1.2 ENCODE dbSUPER 6.7 +23.6 23564 1.3 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 PIR58312 PIR48927 PIR57812 PIR48899 PIR40229 GC02M238450 GC02P238500 RBM44 ASB1
GH02J238433 Enhancer 1.1 Ensembl ENCODE dbSUPER 6.9 +8.0 7965 3.2 DRAP1 SOX13 SAP130 ZFP64 ARID4B CEBPG DMAP1 RAD21 RARA GATAD1 TRAF3IP1 RNU6-234P ASB1 LOC151174 ENSG00000229915 PIR56687
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASB1 gene promoter:
  • NRF-2
  • LUN-1
  • MEF-2A
  • MEF-2
  • aMEF-2
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a

Genomic Locations for ASB1 Gene

Genomic Locations for ASB1 Gene
chr2:238,426,741-238,452,250
(GRCh38/hg38)
Size:
25,510 bases
Orientation:
Plus strand
chr2:239,335,383-239,360,891
(GRCh37/hg19)
Size:
25,509 bases
Orientation:
Plus strand

Genomic View for ASB1 Gene

Genes around ASB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB1 Gene

Proteins for ASB1 Gene

  • Protein details for ASB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y576-ASB1_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 1
    Protein Accession:
    Q9Y576
    Secondary Accessions:
    • A6NL50
    • Q4ZG29
    • Q9ULS4

    Protein attributes for ASB1 Gene

    Size:
    335 amino acids
    Molecular mass:
    37014 Da
    Quaternary structure:
    • Interacts with CUL5 and RNF7.

neXtProt entry for ASB1 Gene

Post-translational modifications for ASB1 Gene

  • Ubiquitination at posLast=6969 and posLast=2121
  • Modification sites at PhosphoSitePlus

Other Protein References for ASB1 Gene

No data available for DME Specific Peptides for ASB1 Gene

Domains & Families for ASB1 Gene

Gene Families for ASB1 Gene

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

Suggested Antigen Peptide Sequences for ASB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y576

UniProtKB/Swiss-Prot:

ASB1_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 ASB1: view

Function for ASB1 Gene

Molecular function for ASB1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in testis development (By similarity). Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Phenotypes From GWAS Catalog for ASB1 Gene

Gene Ontology (GO) - Molecular Function for ASB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16325183
GO:0061630 contributes_to ubiquitin protein ligase activity IDA 16325183
genes like me logo Genes that share ontologies with ASB1: view
genes like me logo Genes that share phenotypes with ASB1: view

Animal Models for ASB1 Gene

MGI Knock Outs for ASB1:
  • Asb1 Asb1<tm1Wehi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASB1 Gene

Localization for ASB1 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 ASB1 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ASB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 16325183
GO:0005622 intracellular IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ASB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ASB1 Gene

Pathways & Interactions for ASB1 Gene

genes like me logo Genes that share pathways with ASB1: view

UniProtKB/Swiss-Prot Q9Y576-ASB1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0016567 protein ubiquitination IEA --
GO:0030539 male genitalia development IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0042036 negative regulation of cytokine biosynthetic process NAS 11111040
genes like me logo Genes that share ontologies with ASB1: view

No data available for SIGNOR curated interactions for ASB1 Gene

Drugs & Compounds for ASB1 Gene

No Compound Related Data Available

Transcripts for ASB1 Gene

mRNA/cDNA for ASB1 Gene

Unigene Clusters for ASB1 Gene

Ankyrin repeat and SOCS box containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASB1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7
SP1: -
SP2: - - - -
SP3: -
SP4: - -
SP5:
SP6: - - -

Relevant External Links for ASB1 Gene

GeneLoc Exon Structure for
ASB1
ECgene alternative splicing isoforms for
ASB1

Expression for ASB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASB1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ASB1 Gene:

ASB1

SOURCE GeneReport for Unigene cluster for ASB1 Gene:

Hs.516788

Evidence on tissue expression from TISSUES for ASB1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ASB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB1 Gene

Orthologs for ASB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASB1 34 33
  • 99.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASB1 34
  • 96 (a)
OneToOne
LOC486182 33
  • 90.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASB1 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASB1 34 33
  • 87.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asb1 33
  • 87.16 (n)
mouse
(Mus musculus)
Mammalia Asb1 16 34 33
  • 86.97 (n)
oppossum
(Monodelphis domestica)
Mammalia ASB1 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASB1 34 33
  • 75.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASB1 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asb1 33
  • 61.79 (n)
zebrafish
(Danio rerio)
Actinopterygii asb1 34 33
  • 63.67 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for ASB1 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ASB1 Gene

ENSEMBL:
Gene Tree for ASB1 (if available)
TreeFam:
Gene Tree for ASB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASB1: view image

Paralogs for ASB1 Gene

Paralogs for ASB1 Gene

(2) SIMAP similar genes for ASB1 Gene using alignment to 3 proteins:

  • ASB1_HUMAN
  • B9A047_HUMAN
  • F8WBM8_HUMAN
genes like me logo Genes that share paralogs with ASB1: view

Variants for ASB1 Gene

Sequence variations from dbSNP and Humsavar for ASB1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000047305 -- 238,448,599(+) T/G 3_prime_UTR_variant
rs1000212024 -- 238,426,608(+) G/A/T upstream_transcript_variant
rs1000352995 -- 238,447,649(+) T/G 3_prime_UTR_variant
rs1000517245 -- 238,425,449(+) C/A upstream_transcript_variant
rs1000695669 -- 238,430,573(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASB1 Gene

Variant ID Type Subtype PubMed ID
esv2721767 CNV deletion 23290073
esv2721768 CNV deletion 23290073
esv2721769 CNV deletion 23290073
nsv1000252 CNV loss 25217958

Variation tolerance for ASB1 Gene

Residual Variation Intolerance Score: 21.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASB1 Gene

Human Gene Mutation Database (HGMD)
ASB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASB1 Gene

Disorders for ASB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASB1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
phobic disorder
  • phobic anxiety disorder
- elite association - COSMIC cancer census association via MalaCards
Search ASB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ASB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASB1 Gene

Publications for ASB1 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. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M … Tobin MD (Nature genetics 2011) 3 44 58
  3. 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
  4. 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
  5. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58

Products for ASB1 Gene

Sources for ASB1 Gene

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