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 a 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. Alternative splicing ... See more...

Aliases for ASB14 Gene

Aliases for ASB14 Gene

  • Ankyrin Repeat And SOCS Box Containing 14 2 3 5
  • Ankyrin Repeat And SOCS Box Protein 14 3 4
  • Ankyrin Repeat Domain-Containing SOCS Box Protein Asb-14 3
  • Ankyrin Repeat And SOCS Box-Containing 14 2
  • ASB-14 4

External Ids for ASB14 Gene

Previous GeneCards Identifiers for ASB14 Gene

  • GC03P056205
  • GC03M056656
  • GC03M057157
  • GC03M057259

Summaries for ASB14 Gene

Entrez Gene Summary for ASB14 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 a 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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]

GeneCards Summary for ASB14 Gene

ASB14 (Ankyrin Repeat And SOCS Box Containing 14) is a Protein Coding gene. Diseases associated with ASB14 include Retinitis Pigmentosa 48 and Cat-Scratch Disease. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is ASB15.

UniProtKB/Swiss-Prot Summary for ASB14 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.

Additional gene information for ASB14 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASB14 Gene

Genomics for ASB14 Gene

GeneHancer (GH) Regulatory Elements for ASB14 Gene

Promoters and enhancers for ASB14 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
GH03J057292 Promoter 0.3 EPDnew 500.7 +0.0 18 0.1 ASB14 ENSG00000286952 piR-37198
GH03J057158 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +131.3 131333 8.8 ZSCAN5C NRF1 TEAD4 ZIC2 ZBTB26 ZEB1 MXI1 POLR2A OSR2 EZH2 IL17RD SPATA12 ARHGEF3 APPL1 HESX1 ASB14 DNAH12 SLMAP lnc-HESX1-2 LOC105377101
GH03J057169 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 9.9 +122.5 122519 0.8 CTCF NRF1 REST RFX1 RAD21 CTBP1 ZBTB7A SKI TRIM22 ZEB1 IL17RD APPL1 HESX1 PDE12 ASB14 DNAH12 DENND6A DENND6A-DT SLMAP lnc-HESX1-2
GH03J057199 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 10.4 +92.8 92828 1.4 MYC USF1 SAP30 POLR2A NANOG PHF8 TCF12 TAL1 SIN3A TAF1 HESX1 APPL1 IL17RD PDE12 ASB14 DNAH12 ARHGEF3 piR-31199-225 lnc-HESX1-1
GH03J057127 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.5 +162.6 162639 5.4 USF1 HDAC2 MXI1 POLR2A RXRA GATA3 REST NANOG TCF12 ETS1 IL17RD ARHGEF3 APPL1 HESX1 ASB14 DNAH12 SLMAP RPL19P2 piR-57133-427 lnc-HESX1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASB14 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASB14

Top Transcription factor binding sites by QIAGEN in the ASB14 gene promoter:
  • C/EBPbeta
  • HSF2
  • Nkx2-5
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for ASB14 Gene

Genomic Locations for ASB14 Gene
chr3:57,268,342-57,292,720
(GRCh38/hg38)
Size:
24,379 bases
Orientation:
Minus strand
chr3:57,302,375-57,326,710
(GRCh37/hg19)
Size:
24,336 bases
Orientation:
Minus strand

Genomic View for ASB14 Gene

Genes around ASB14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASB14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASB14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASB14 Gene

Proteins for ASB14 Gene

  • Protein details for ASB14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NK59-ASB14_HUMAN
    Recommended name:
    Ankyrin repeat and SOCS box protein 14
    Protein Accession:
    A6NK59
    Secondary Accessions:
    • C9JX97
    • Q8WXK2
    • Q92816

    Protein attributes for ASB14 Gene

    Size:
    587 amino acids
    Molecular mass:
    65331 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ASB14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASB14 Gene

Post-translational modifications for ASB14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASB14 Gene

No data available for DME Specific Peptides for ASB14 Gene

Domains & Families for ASB14 Gene

Gene Families for ASB14 Gene

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

Suggested Antigen Peptide Sequences for ASB14 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat and SOCS box protein 14 (ASB14_HUMAN)
  • ASB14 protein (Q1RMF3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NK59

UniProtKB/Swiss-Prot:

ASB14_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 ASB14: view

Function for ASB14 Gene

Molecular function for ASB14 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 ASB14 Gene

genes like me logo Genes that share phenotypes with ASB14: view

Animal Model Products

Clone Products

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 ASB14 Gene

Localization for ASB14 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 ASB14 gene
Compartment Confidence
cytosol 4
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ASB14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ASB14: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ASB14 Gene

Pathways & Interactions for ASB14 Gene

genes like me logo Genes that share pathways with ASB14: view

UniProtKB/Swiss-Prot A6NK59-ASB14_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ASB14 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 ASB14: view

No data available for SIGNOR curated interactions for ASB14 Gene

Drugs & Compounds for ASB14 Gene

No Compound Related Data Available

Transcripts for ASB14 Gene

mRNA/cDNA for ASB14 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASB14 Gene

No ASD Table

Relevant External Links for ASB14 Gene

GeneLoc Exon Structure for
ASB14

Expression for ASB14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASB14 Gene

mRNA differential expression in normal tissues according to GTEx for ASB14 Gene

This gene is overexpressed in Muscle - Skeletal (x15.2) and Heart - Left Ventricle (x8.8).

Protein differential expression in normal tissues from HIPED for ASB14 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASB14 Gene



Protein tissue co-expression partners for ASB14 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASB14

SOURCE GeneReport for Unigene cluster for ASB14 Gene:

Hs.665154
genes like me logo Genes that share expression patterns with ASB14: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASB14 Gene

Orthologs for ASB14 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASB14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASB14 31 30
  • 99.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASB14 30
  • 89.16 (n)
DNAH12 31
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASB14 31 30
  • 88.87 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Asb14 17 31 30
  • 83.25 (n)
rat
(Rattus norvegicus)
Mammalia Asb14 30
  • 82.08 (n)
oppossum
(Monodelphis domestica)
Mammalia ASB14 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASB14 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASB14 31 30
  • 70.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASB14 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asb14 30
  • 63.02 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC568371 30
  • 57.7 (n)
asb14 31
  • 57 (a)
OneToMany
FP017304.1 31
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M60.7 31
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToMany
Species where no ortholog for ASB14 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)

Evolution for ASB14 Gene

ENSEMBL:
Gene Tree for ASB14 (if available)
TreeFam:
Gene Tree for ASB14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASB14: view image

Paralogs for ASB14 Gene

Paralogs for ASB14 Gene

(5) SIMAP similar genes for ASB14 Gene using alignment to 2 proteins:

  • ASB14_HUMAN
  • Q1RMF3_HUMAN
genes like me logo Genes that share paralogs with ASB14: view

Variants for ASB14 Gene

Additional dbSNP identifiers (rs#s) for ASB14 Gene

Structural Variations from Database of Genomic Variants (DGV) for ASB14 Gene

Variant ID Type Subtype PubMed ID
esv3561925 CNV deletion 23714750
esv3575575 CNV gain 25503493
nsv3836 CNV insertion 18451855

Variation tolerance for ASB14 Gene

Gene Damage Index Score: 2.50; 43.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASB14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASB14

SNP Genotyping and Copy Number Assay Products

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 ASB14 Gene

Disorders for ASB14 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ASB14 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 48
  • rp48
cat-scratch disease
  • oroya fever
cardiomyopathy, familial hypertrophic, 1
  • fhc
balo concentric sclerosis
  • balo's concentric sclerosis
noonan syndrome 1
  • ns1
- elite association - COSMIC cancer census association via MalaCards
Search ASB14 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASB14

genes like me logo Genes that share disorders with ASB14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASB14 Gene

Publications for ASB14 Gene

  1. The SOCS box: a tale of destruction and degradation. (PMID: 12076535) Kile BT … Hilton DJ (Trends in biochemical sciences 2002) 2 3 54
  2. MARCH8 Ubiquitinates the Hepatitis C Virus Nonstructural 2 Protein and Mediates Viral Envelopment. (PMID: 30759391) Kumar S … Einav S (Cell reports 2019) 3 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. Protein interaction screening for the ankyrin repeats and suppressor of cytokine signaling (SOCS) box (ASB) family identify Asb11 as a novel endoplasmic reticulum resident ubiquitin ligase. (PMID: 24337577) Andresen CA … Flores-Morales A (The Journal of biological chemistry 2014) 3 54
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 54

Products for ASB14 Gene

Sources for ASB14 Gene