This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiqui... See more...

Aliases for ASB9 Gene

Aliases for ASB9 Gene

  • Ankyrin Repeat And SOCS Box Containing 9 2 3 5
  • Ankyrin Repeat And SOCS Box Protein 9 3 4
  • ASB-9 3 4
  • Ankyrin Repeat And Suppressor Of Cytokine Signaling Box Protein 9 3
  • Testis Tissue Sperm-Binding Protein Li 57p 3
  • Ankyrin Repeat And SOCS Box-Containing 9 2
  • DKFZP564L0862 2
  • FLJ20636 2
  • MGC4954 2
  • ASB9 5

External Ids for ASB9 Gene

Previous GeneCards Identifiers for ASB9 Gene

  • GC00U991143
  • GC0XM014087
  • GC0XM014464
  • GC0XM014623
  • GC0XM015021
  • GC0XM015172
  • GC0XM013019
  • GC0XM015252

Summaries for ASB9 Gene

Entrez Gene Summary for ASB9 Gene

  • This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

GeneCards Summary for ASB9 Gene

ASB9 (Ankyrin Repeat And SOCS Box Containing 9) is a Protein Coding gene. Diseases associated with ASB9 include Uterine Corpus Endometrial Carcinoma. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is ASB11.

UniProtKB/Swiss-Prot Summary for ASB9 Gene

  • 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. Recognizes at least two forms of creatine kinase, CKB and CKMT1A.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASB9 Gene

Genomics for ASB9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASB9 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
GH0XJ015268 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 266.5 +0.4 423 2.5 CEBPB FOXA2 MAX SAP130 RXRA MIER3 RFX5 DMAP1 ZBTB33 JUND ASB9 RF00017-8170 MOSPD2
GH0XJ015269 Enhancer 0.2 Ensembl 250.7 +2.0 1975 0.2 ASB9 RF00017-8170 lnc-ASB11-3 MOSPD2
GH0XJ015298 Enhancer 0.8 Ensembl ENCODE 13.1 -28.5 -28539 2.8 CTCF GABPA SMC3 RAD21 SCRT1 ATF2 SP1 ARID3A HNF1A ATF7 HSALNG0136772 ASB9 PIGA ASB11
GH0XJ015261 Enhancer 0.2 Ensembl 9.7 +9.2 9175 1 ASB9 lnc-ASB11-3 RF00017-8170 MOSPD2
GH0XJ015301 Enhancer 0.6 Ensembl ENCODE 0.3 -31.7 -31725 1.6 MYC MAX HLF ZSCAN5C MGA PIGA ASB11 HSALNG0136772 ASB9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASB9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASB9

Top Transcription factor binding sites by QIAGEN in the ASB9 gene promoter:
  • aMEF-2
  • FOXL1
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for ASB9 Gene

Latest Assembly
chrX:15,235,288-15,270,476
(GRCh38/hg38)
Size:
35,189 bases
Orientation:
Minus strand

Previous Assembly
chrX:15,262,109-15,288,589
(GRCh37/hg19 by Entrez Gene)
Size:
26,481 bases
Orientation:
Minus strand

chrX:15,253,410-15,288,589
(GRCh37/hg19 by Ensembl)
Size:
35,180 bases
Orientation:
Minus strand

Genomic View for ASB9 Gene

Genes around ASB9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB9 Gene

Proteins for ASB9 Gene

  • Protein details for ASB9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DX5-ASB9_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 9
    Protein Accession:
    Q96DX5
    Secondary Accessions:
    • A8K8A5
    • Q9BVF5
    • Q9NWS5
    • Q9Y4T3

    Protein attributes for ASB9 Gene

    Size:
    294 amino acids
    Molecular mass:
    31858 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAB45706.2; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Does not interact with the Elongin BC complex, likely to be a negative regulator of isoform 1.

    Three dimensional structures from OCA and Proteopedia for ASB9 Gene

    Alternative splice isoforms for ASB9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASB9 Gene

Post-translational modifications for ASB9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for ASB9
  • Santa Cruz Biotechnology (SCBT) Antibodies for ASB9

No data available for DME Specific Peptides for ASB9 Gene

Domains & Families for ASB9 Gene

Gene Families for ASB9 Gene

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

Protein Domains for ASB9 Gene

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

Suggested Antigen Peptide Sequences for ASB9 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat and SOCS box protein 9 (ASB9_HUMAN)
  • Ankyrin repeat and SOCS box-containing 9 (Q7Z4A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96DX5

UniProtKB/Swiss-Prot:

ASB9_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 ASB9: view

Function for ASB9 Gene

Molecular function for ASB9 Gene

UniProtKB/Swiss-Prot Function:
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. Recognizes at least two forms of creatine kinase, CKB and CKMT1A.

Phenotypes From GWAS Catalog for ASB9 Gene

Gene Ontology (GO) - Molecular Function for ASB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with ASB9: view
genes like me logo Genes that share phenotypes with ASB9: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASB9

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ASB9 Gene

Localization for ASB9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASB9 Gene

Mitochondrion.

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 ASB9 gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 1
extracellular 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ASB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ASB9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASB9 Gene

Pathways & Interactions for ASB9 Gene

genes like me logo Genes that share pathways with ASB9: view

UniProtKB/Swiss-Prot Q96DX5-ASB9_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IDA,IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043687 post-translational protein modification TAS --
GO:0045732 positive regulation of protein catabolic process IDA 17148442
genes like me logo Genes that share ontologies with ASB9: view

No data available for SIGNOR curated interactions for ASB9 Gene

Drugs & Compounds for ASB9 Gene

No Compound Related Data Available

Transcripts for ASB9 Gene

mRNA/cDNA for ASB9 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 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 ASB9

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ASB9 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - - - - -
SP5: - - -
SP6: - - - - - - -
SP7: - -
SP8: -
SP9:

Relevant External Links for ASB9 Gene

GeneLoc Exon Structure for
ASB9

Expression for ASB9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASB9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASB9 Gene

This gene is overexpressed in Testis (x14.7) and Spleen (x5.3).

Protein differential expression in normal tissues from HIPED for ASB9 Gene

This gene is overexpressed in Testis (40.3) and Ovary (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASB9 Gene



Protein tissue co-expression partners for ASB9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASB9

SOURCE GeneReport for Unigene cluster for ASB9 Gene:

Hs.19404

mRNA Expression by UniProt/SwissProt for ASB9 Gene:

Q96DX5-ASB9_HUMAN
Tissue specificity: Predominantly expressed in testis, kidney, and liver.

Evidence on tissue expression from TISSUES for ASB9 Gene

  • Skin(4.2)
  • Nervous system(4.2)
  • Liver(4.2)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with ASB9: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB9 Gene

Orthologs for ASB9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASB9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 100 (a)
OneToMany
-- 31
  • 100 (a)
OneToMany
LOC100609711 30
  • 99.66 (n)
Cow
(Bos Taurus)
Mammalia ASB9 30 31
  • 81.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASB9 30 31
  • 79.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Asb9 30
  • 77.24 (n)
Mouse
(Mus musculus)
Mammalia Asb9 30 17 31
  • 77.13 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASB9 31
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASB9 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ASB9 30 31
  • 69.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 62 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia asb9 30
  • 61.31 (n)
Str.10451 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8986 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4234 31
  • 31 (a)
OneToMany
Species where no ortholog for ASB9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)
  • Zebrafish (Danio rerio)

Evolution for ASB9 Gene

ENSEMBL:
Gene Tree for ASB9 (if available)
TreeFam:
Gene Tree for ASB9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASB9: view image

Paralogs for ASB9 Gene

Paralogs for ASB9 Gene

(12) SIMAP similar genes for ASB9 Gene using alignment to 3 proteins:

  • ASB9_HUMAN
  • Q7Z4A2_HUMAN
  • R4GN94_HUMAN

Pseudogenes.org Pseudogenes for ASB9 Gene

genes like me logo Genes that share paralogs with ASB9: view

Variants for ASB9 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASB9 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 ASB9 Gene

Variant ID Type Subtype PubMed ID
dgv2226e212 CNV loss 25503493
dgv2227e212 CNV loss 25503493
esv1774504 CNV insertion 17803354
esv3573602 CNV loss 25503493
nsv528005 CNV gain 19592680

Variation tolerance for ASB9 Gene

Residual Variation Intolerance Score: 37.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASB9 Gene

Human Gene Mutation Database (HGMD)
ASB9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASB9 Gene

Disorders for ASB9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASB9 Gene - From: COP

Disorder Aliases PubMed IDs
uterine corpus endometrial carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search ASB9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASB9

genes like me logo Genes that share disorders with ASB9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASB9 Gene

Publications for ASB9 Gene

  1. Crystal structure of Human ASB9-2 and substrate-recognition of CKB. (PMID: 22418839) Fei X … Ji C (The protein journal 2012) 3 4
  2. ASB9 interacts with ubiquitous mitochondrial creatine kinase and inhibits mitochondrial function. (PMID: 20302626) Kwon S … Kwon HJ (BMC biology 2010) 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 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
  5. The SOCS box: a tale of destruction and degradation. (PMID: 12076535) Kile BT … Hilton DJ (Trends in biochemical sciences 2002) 2 3

Products for ASB9 Gene

Sources for ASB9 Gene