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Aliases for ANKRD13A Gene

Aliases for ANKRD13A Gene

  • Ankyrin Repeat Domain 13A 2 3 5
  • ANKRD13 3 4
  • Ankyrin Repeat Domain-Containing Protein 13A 3
  • Ankyrin Repeat Domain 13 2
  • NY-REN-25 Antigen 3
  • Protein KE03 4
  • NY-REN-25 3

External Ids for ANKRD13A Gene

Previous HGNC Symbols for ANKRD13A Gene

  • ANKRD13

Previous GeneCards Identifiers for ANKRD13A Gene

  • GC12P108921
  • GC12P110437
  • GC12P107452

Summaries for ANKRD13A Gene

GeneCards Summary for ANKRD13A Gene

ANKRD13A (Ankyrin Repeat Domain 13A) is a Protein Coding gene. Diseases associated with ANKRD13A include Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia. An important paralog of this gene is ANKRD13D.

UniProtKB/Swiss-Prot for ANKRD13A Gene

  • Ubiquitin-binding protein that specifically recognizes and binds Lys-63-linked ubiquitin. Does not bind Lys-48-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.

Additional gene information for ANKRD13A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD13A Gene

Genomics for ANKRD13A Gene

Regulatory Elements for ANKRD13A Gene

Enhancers for ANKRD13A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H110036 1.6 Ensembl ENCODE dbSUPER 12.3 +41.3 41336 7 HDGF FOXA2 ARID4B SIN3A FEZF1 YY1 SLC30A9 ZNF143 FOS PAF1 TRPV4 ALKBH2 GIT2 ANKRD13A C12orf76 RNU4-32P GLTP PIR31988 GC12P110049
GH12H110245 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +249.0 249045 5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF121 ZNF143 REST PPARG GIT2 ANKRD13A FAM216A ATP2A2 GLTP TRPV4 GC12P110250 GC12P110240
GH12H110054 1.5 Ensembl ENCODE dbSUPER 11.5 +56.7 56661 1 PKNOX1 ATF1 TCF12 GTF3C2 ZNF766 GATA2 ELK1 FOS ATF7 NCOA1 RNU4-32P C12orf76 UBE3B ANKRD13A GIT2 GLTP ENSG00000279360 GC12P110049
GH12H110046 1.4 ENCODE dbSUPER 12 +49.2 49225 3 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A MEF2D ZNF610 C12orf76 ANKRD13A GIT2 TRPV4 GLTP GC12P110049 PIR31988
GH12H109878 1.6 FANTOM5 ENCODE dbSUPER 10.5 -118.6 -118641 3 HDGF ATF1 ARNT ZNF133 SIN3A ZNF2 ZBTB7B ELK1 ZNF143 FOS KCTD10 UBE3B GLTP LINC01486 ENSG00000257268 RNU4-32P IFT81 ANKRD13A PPP1CC FAM216A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANKRD13A on UCSC Golden Path with GeneCards custom track

Promoters for ANKRD13A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000057252 531 1801 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B

Genomic Location for ANKRD13A Gene

Chromosome:
12
Start:
109,999,169 bp from pter
End:
110,039,763 bp from pter
Size:
40,595 bases
Orientation:
Plus strand

Genomic View for ANKRD13A Gene

Genes around ANKRD13A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD13A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD13A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD13A Gene

Proteins for ANKRD13A Gene

  • Protein details for ANKRD13A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZ07-AN13A_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 13A
    Protein Accession:
    Q8IZ07
    Secondary Accessions:
    • O60736

    Protein attributes for ANKRD13A Gene

    Size:
    590 amino acids
    Molecular mass:
    67619 Da
    Quaternary structure:
    • Interacts (via the UIM 3 and 4 repeats) with EGFR (ubiquitinated); the interaction is direct, inhibited by ANKRD13A monoubiquitination and may regulate EGFR internalization.
    SequenceCaution:
    • Sequence=AAC17109.1; Type=Frameshift; Positions=343, 348; Evidence={ECO:0000305};

neXtProt entry for ANKRD13A Gene

Post-translational modifications for ANKRD13A Gene

  • Monoubiquitinated, inhibits interaction with ubiquitinated EGFR.
  • Ubiquitination at posLast=1919, posLast=2727, posLast=217217, Lys239, posLast=247247, posLast=257257, Lys279, posLast=400400, and Lys410
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKRD13A Gene

Domains & Families for ANKRD13A Gene

Gene Families for ANKRD13A Gene

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

Graphical View of Domain Structure for InterPro Entry

Q8IZ07

UniProtKB/Swiss-Prot:

AN13A_HUMAN :
  • The UIM repeats 3 and 4 are required for binding to ubiquitinated EGFR and Lys-63-linked ubiquitin.
Domain:
  • The UIM repeats 3 and 4 are required for binding to ubiquitinated EGFR and Lys-63-linked ubiquitin.
genes like me logo Genes that share domains with ANKRD13A: view

Function for ANKRD13A Gene

Molecular function for ANKRD13A Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin-binding protein that specifically recognizes and binds Lys-63-linked ubiquitin. Does not bind Lys-48-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.

Phenotypes From GWAS Catalog for ANKRD13A Gene

Phenotypes for ANKRD13A Gene

GenomeRNAi human phenotypes for ANKRD13A:
genes like me logo Genes that share phenotypes with ANKRD13A: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ANKRD13A

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ANKRD13A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD13A Gene

Localization for ANKRD13A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD13A Gene

Cell membrane. Late endosome. Note=Interaction with EGFR may enhance association with the cell membrane.

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 ANKRD13A gene
Compartment Confidence
plasma membrane 5
cytosol 3
endosome 3
nucleus 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKRD13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ANKRD13A: view

Pathways & Interactions for ANKRD13A Gene

SuperPathways for ANKRD13A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD13A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKRD13A Gene

Drugs & Compounds for ANKRD13A Gene

No Compound Related Data Available

Transcripts for ANKRD13A Gene

Unigene Clusters for ANKRD13A Gene

Ankyrin repeat domain 13A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ANKRD13A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD13A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c · 16d
SP1: - - - - -
SP2:
SP3:
SP4: - -
SP5: - - -
SP6: - - -
SP7:
SP8:

Relevant External Links for ANKRD13A Gene

GeneLoc Exon Structure for
ANKRD13A
ECgene alternative splicing isoforms for
ANKRD13A

Expression for ANKRD13A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKRD13A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKRD13A Gene

This gene is overexpressed in Whole Blood (x5.8).

Protein differential expression in normal tissues from HIPED for ANKRD13A Gene

This gene is overexpressed in Bone (25.9), Lymph node (10.5), and Peripheral blood mononuclear cells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD13A Gene



Protein tissue co-expression partners for ANKRD13A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKRD13A Gene:

ANKRD13A

SOURCE GeneReport for Unigene cluster for ANKRD13A Gene:

Hs.528703

Evidence on tissue expression from TISSUES for ANKRD13A Gene

  • Liver(4.2)
  • Blood(4.1)
  • Nervous system(2.7)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with ANKRD13A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD13A Gene

Orthologs for ANKRD13A Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD13A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD13A 33 34
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia ANKRD13A 33 34
  • 91.3 (n)
cow
(Bos Taurus)
Mammalia ANKRD13A 33 34
  • 88.31 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD13A 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ankrd13a 33
  • 86.22 (n)
mouse
(Mus musculus)
Mammalia Ankrd13a 33 16 34
  • 85.54 (n)
chicken
(Gallus gallus)
Aves ANKRD13A 33 34
  • 73.68 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9215 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4388 33
zebrafish
(Danio rerio)
Actinopterygii ankrd13a 33 34
  • 62.92 (n)
Dr.27327 33
fruit fly
(Drosophila melanogaster)
Insecta CG15118 34
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18F10.7 33 34
  • 47.91 (n)
Species where no ortholog for ANKRD13A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 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)

Evolution for ANKRD13A Gene

ENSEMBL:
Gene Tree for ANKRD13A (if available)
TreeFam:
Gene Tree for ANKRD13A (if available)

Paralogs for ANKRD13A Gene

Paralogs for ANKRD13A Gene

(5) SIMAP similar genes for ANKRD13A Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ANKRD13A: view

Variants for ANKRD13A Gene

Sequence variations from dbSNP and Humsavar for ANKRD13A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000103581 -- 110,009,129(+) CAGGC(C/T)GGAGT intron-variant
rs1000136168 -- 110,008,863(+) CTGGG(C/T)GACAG intron-variant
rs1000198569 -- 110,015,291(+) TCTTT(C/T)GGTTT intron-variant
rs1000324268 -- 110,008,909(+) CTGCA(-/T)TTTTT intron-variant
rs1000424766 -- 110,008,633(+) TAATC(C/G)CAGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD13A Gene

Variant ID Type Subtype PubMed ID
nsv884 CNV insertion 18451855
nsv952476 CNV deletion 24416366

Variation tolerance for ANKRD13A Gene

Residual Variation Intolerance Score: 18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.59; 65.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKRD13A Gene

Human Gene Mutation Database (HGMD)
ANKRD13A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD13A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD13A Gene

Disorders for ANKRD13A Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANKRD13A Gene - From: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ANKRD13A

Genetic Association Database (GAD)
ANKRD13A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD13A
genes like me logo Genes that share disorders with ANKRD13A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD13A Gene

Publications for ANKRD13A Gene

  1. The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor endocytosis from the plasma membrane. (PMID: 22298428) Tanno H … Komada M (Molecular biology of the cell 2012) 3 4 60
  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 60
  3. Antigens recognized by autologous antibody in patients with renal-cell carcinoma. (PMID: 10508479) Scanlan MJ … Old LJ (International journal of cancer 1999) 2 3 60
  4. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for ANKRD13A Gene

Sources for ANKRD13A Gene

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