Aliases for ASB17 Gene

Aliases for ASB17 Gene

  • Ankyrin Repeat And SOCS Box Containing 17 2 3 5
  • Ankyrin Repeat And SOCS Box Protein 17 3 4
  • Ankyrin Repeat And SOCS Box-Containing 17 2
  • Asb-17 3
  • ASB-17 4
  • ASB17 5

External Ids for ASB17 Gene

Previous GeneCards Identifiers for ASB17 Gene

  • GC01M076504
  • GC01M075319
  • GC01M075800
  • GC01M075807
  • GC01M076096
  • GC01M076157
  • GC01M076384
  • GC01M074514

Summaries for ASB17 Gene

GeneCards Summary for ASB17 Gene

ASB17 (Ankyrin Repeat And SOCS Box Containing 17) is a Protein Coding gene. Diseases associated with ASB17 include Croup. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System.

UniProtKB/Swiss-Prot Summary for ASB17 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 Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASB17 Gene

Genomics for ASB17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASB17 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
GH01J075932 Promoter 0.4 EPDnew 250.4 +5.2 5201 0.1 ATF2 ASB17 LOC101927342 ENSG00000225605 MSH4
GH01J076002 Enhancer 0.2 FANTOM5 8.1 -65.3 -65317 0.2 LOC105378806 ST6GALNAC3 SLC44A5 ASB17 MSH4 piR-50968-004 LOC101927342 ENSG00000225605
GH01J075964 Enhancer 0.7 Ensembl ENCODE 0.3 -26.9 -26863 1 JUND ZNF341 PRDM6 ZNF362 GLIS1 ZNF384 KLF1 ZSCAN21 EGR2 EP300 MSH4 ACADM RABGGTB piR-50968-004 ASB17 LOC101927342 LOC105378806 ENSG00000225605 ST6GALNAC3
GH01J075955 Enhancer 0.5 Ensembl 0.4 -17.3 -17276 0.2 ZNF316 NFE2 MAFK MAFG JUND MAFF JUNB NFIL3 EMSY piR-35312-003 piR-50968-004 ASB17 LOC101927342 ENSG00000225605 ST6GALNAC3
GH01J075943 Enhancer 0.4 Ensembl 0.4 -6.0 -5975 0.4 BHLHE40 MAX IKZF1 NR2F1 ASB17 piR-35312-003 LOC101927342 ENSG00000225605 ST6GALNAC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASB17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASB17

Top Transcription factor binding sites by QIAGEN in the ASB17 gene promoter:
  • Cart-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Pax-6
  • POU2F1
  • POU2F1a
  • S8
  • SRF
  • SRF (504 AA)
  • STAT5A

Genomic Locations for ASB17 Gene

Latest Assembly
chr1:75,918,873-75,937,625
(GRCh38/hg38)
Size:
18,753 bases
Orientation:
Minus strand

Previous Assembly
chr1:76,384,558-76,398,089
(GRCh37/hg19 by Entrez Gene)
Size:
13,532 bases
Orientation:
Minus strand

chr1:76,384,558-76,398,116
(GRCh37/hg19 by Ensembl)
Size:
13,559 bases
Orientation:
Minus strand

Genomic View for ASB17 Gene

Genes around ASB17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB17 Gene

Proteins for ASB17 Gene

  • Protein details for ASB17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXJ9-ASB17_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 17
    Protein Accession:
    Q8WXJ9
    Secondary Accessions:
    • B1APB8
    • Q8N0X5

    Protein attributes for ASB17 Gene

    Size:
    295 amino acids
    Molecular mass:
    34282 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ASB17 Gene

Post-translational modifications for ASB17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASB17 Gene

No data available for DME Specific Peptides for ASB17 Gene

Domains & Families for ASB17 Gene

Gene Families for ASB17 Gene

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

Protein Domains for ASB17 Gene

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

Suggested Antigen Peptide Sequences for ASB17 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat and SOCS box protein 17 (ASB17_HUMAN)
  • ASB17 protein (Q4G1B1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXJ9

UniProtKB/Swiss-Prot:

ASB17_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 ASB17: view

Function for ASB17 Gene

Molecular function for ASB17 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 ASB17 Gene

genes like me logo Genes that share phenotypes with ASB17: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASB17

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ASB17 Gene

Localization for ASB17 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 ASB17 gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ASB17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ASB17: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ASB17 Gene

Pathways & Interactions for ASB17 Gene

genes like me logo Genes that share pathways with ASB17: view

UniProtKB/Swiss-Prot Q8WXJ9-ASB17_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB17 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 ASB17: view

No data available for SIGNOR curated interactions for ASB17 Gene

Drugs & Compounds for ASB17 Gene

No Compound Related Data Available

Transcripts for ASB17 Gene

mRNA/cDNA for ASB17 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 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 ASB17

Alternative Splicing Database (ASD) splice patterns (SP) for ASB17 Gene

No ASD Table

Relevant External Links for ASB17 Gene

GeneLoc Exon Structure for
ASB17

Expression for ASB17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASB17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for ASB17 Gene

This gene is overexpressed in Testis (x52.2).

Protein differential expression in normal tissues from HIPED for ASB17 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASB17 Gene



Protein tissue co-expression partners for ASB17 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASB17

SOURCE GeneReport for Unigene cluster for ASB17 Gene:

Hs.125423

mRNA Expression by UniProt/SwissProt for ASB17 Gene:

Q8WXJ9-ASB17_HUMAN
Tissue specificity: Specifically expressed in testis. Not detected in other tissues tested.
genes like me logo Genes that share expression patterns with ASB17: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB17 Gene

Orthologs for ASB17 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ASB17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ASB17 29 30
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASB17 29 30
  • 91.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASB17 29 30
  • 90.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Asb17 29
  • 85.37 (n)
Mouse
(Mus musculus)
Mammalia Asb17 29 16 30
  • 84.69 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASB17 30
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASB17 30
  • 70 (a)
OneToOne
Species where no ortholog for ASB17 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)
  • Chicken (Gallus gallus)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for ASB17 Gene

ENSEMBL:
Gene Tree for ASB17 (if available)
TreeFam:
Gene Tree for ASB17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASB17: view image
Alliance of Genome Resources:
Additional Orthologs for ASB17

Paralogs for ASB17 Gene

No data available for Paralogs for ASB17 Gene

Variants for ASB17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASB17 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1796814 -- p.Val101Ala
rs3795251 -- p.Ser2Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASB17 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 ASB17 Gene

Variant ID Type Subtype PubMed ID
esv2605515 CNV insertion 19546169
esv3304877 CNV mobile element insertion 20981092
esv3401353 CNV insertion 20981092
nsv1004669 CNV loss 25217958

Variation tolerance for ASB17 Gene

Residual Variation Intolerance Score: 47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.23; 90.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASB17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB17
Leiden Open Variation Database (LOVD)
ASB17

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASB17 Gene

Disorders for ASB17 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASB17 Gene - From: COP

Disorder Aliases PubMed IDs
croup
  • acute laryngotracheobronchitis
- elite association - COSMIC cancer census association via MalaCards
Search ASB17 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASB17

genes like me logo Genes that share disorders with ASB17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASB17 Gene

Publications for ASB17 Gene

  1. Expression of testis specific ankyrin repeat and SOCS box-containing 17 gene. (PMID: 15204681) Guo JH … Dai L (Archives of andrology 2004) 3 4 22
  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. The SOCS box: a tale of destruction and degradation. (PMID: 12076535) Kile BT … Hilton DJ (Trends in biochemical sciences 2002) 2 3
  5. 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

Products for ASB17 Gene

Sources for ASB17 Gene