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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

GeneHancer (GH) Regulatory Elements for ANKRD13A Gene

Promoters and enhancers for ANKRD13A 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
GH12J109997 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 661.1 +2.8 2764 9.3 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ANKRD13A RNU4-32P FAM216A ARPC3 IFT81 GLTP GIT2 C12orf76 ENSG00000280426 ENSG00000277595
GH12J110046 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12 +49.2 49224 3.1 MLX DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC ZC3H11A GIT2 GC12P110049 C12orf76 RNU4-32P ANKRD13A TRPV4 GLTP PIR31988
GH12J109878 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 -118.6 -118640 3.4 HDGF ARNT SIN3A ZNF2 ZBTB7B ZNF213 ZNF143 FOS NFYC ZHX2 GLTP ENSG00000249094 TCHP LINC01486 ENSG00000257268 RNU4-32P KCTD10 IFT81 ANKRD13A PPP1CC
GH12J109475 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.4 -522.1 -522076 3 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B KCTD10 UBE3B SART3 ALKBH2 IFT81 RNU4-32P FAM216A USP30 LINC01486 ARPC3
GH12J110499 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11 +501.9 501869 4 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ENSG00000278993 RAD9B VPS29 IFT81 ARPC3 FAM216A ENSG00000257268 ANAPC7 GPN3 RNU4-32P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD13A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD13A gene promoter:
  • AP-1
  • Elk-1
  • En-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • POU2F1

Genomic Locations for ANKRD13A Gene

Genomic Locations for ANKRD13A Gene
chr12:109,999,169-110,039,763
(GRCh38/hg38)
Size:
40,595 bases
Orientation:
Plus strand
chr12:110,436,991-110,477,568
(GRCh37/hg19)
Size:
40,578 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 Lys410, Lys400, posLast=279279, posLast=257257, posLast=247247, posLast=239239, Lys217, posLast=2727, and posLast=1919
  • 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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for ANKRD13A

Clone Products

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:

Clone Products

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

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 34 33
  • 99.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD13A 34 33
  • 91.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD13A 34 33
  • 88.31 (n)
OneToOne
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 16 34 33
  • 85.54 (n)
chicken
(Gallus gallus)
Aves ANKRD13A 34 33
  • 73.68 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9215 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4388 33
zebrafish
(Danio rerio)
Actinopterygii ankrd13a 34 33
  • 62.92 (n)
OneToOne
Dr.27327 33
fruit fly
(Drosophila melanogaster)
Insecta CG15118 34
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18F10.7 34 33
  • 47.91 (n)
OneToMany
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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD13A: view image

Paralogs for ANKRD13A Gene

Paralogs for ANKRD13A Gene

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

  • AN13A_HUMAN
  • F8W150_HUMAN
  • H0YIN8_HUMAN
  • S4R3D2_HUMAN
  • S4R3U2_HUMAN
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 Variation AA Info Type
rs1000103581 -- 110,009,129(+) T/C intron_variant
rs1000136168 -- 110,008,863(+) C/T intron_variant
rs1000198569 -- 110,015,291(+) C/T intron_variant
rs1000324268 -- 110,008,910(+) TTTTTTTT/TTTTTTTTT intron_variant
rs1000424766 -- 110,008,633(+) C/G 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)

Additional Variant Information 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

Additional Disease Information for 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 58
  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 58
  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 58
  4. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ANKRD13A Gene

Sources for ANKRD13A Gene

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