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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 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.

No data available for Entrez Gene 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

Promoters for ANKRD13A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKRD13A on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ANKRD13A Gene at MOPED

Post-translational modifications for ANKRD13A Gene

  • Monoubiquitinated, inhibits interaction with ubiquitinated EGFR.
  • Ubiquitination at Lys 19, Lys 27, Lys 217, Lys 239, Lys 247, Lys 257, Lys 279, Lys 400, and Lys 410
  • Modification sites at PhosphoSitePlus

Other Protein References for ANKRD13A Gene

No data available for DME Specific Peptides for ANKRD13A Gene

Domains & Families for ANKRD13A Gene

Gene Families for ANKRD13A Gene

Protein Domains for ANKRD13A Gene

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.
  • Contains 2 ANK repeats.
Domain:
  • The UIM repeats 3 and 4 are required for binding to ubiquitinated EGFR and Lys-63-linked ubiquitin.
  • Contains 4 UIM (ubiquitin-interacting motif) domains.
Similarity:
  • Contains 2 ANK repeats.
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 for ANKRD13A Gene

MGI mutant phenotypes for ANKRD13A:
inferred from 1 alleles
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

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
Jensen Localization Image for ANKRD13A Gene COMPARTMENTS Subcellular localization image for ANKRD13A gene
Compartment Confidence
plasma membrane 5
cytosol 3
endosome 3
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ANKRD13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ANKRD13A: view

Pathways & Interactions for ANKRD13A Gene

SuperPathways for ANKRD13A Gene

No Data Available

Interacting Proteins for ANKRD13A Gene

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:

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 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, MOPED, and MaxQB for ANKRD13A Gene



SOURCE GeneReport for Unigene cluster for ANKRD13A Gene Hs.528703

genes like me logo Genes that share expression patterns with ANKRD13A: view

Protein tissue co-expression partners for ANKRD13A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia ANKRD13A 35
  • 88.31 (n)
  • 93.56 (a)
ANKRD13A 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD13A 35
  • 91.3 (n)
  • 94.24 (a)
ANKRD13A 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd13a 35
  • 85.54 (n)
  • 90.82 (a)
Ankrd13a 16
Ankrd13a 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANKRD13A 35
  • 99.83 (n)
  • 100 (a)
ANKRD13A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd13a 35
  • 86.22 (n)
  • 91.16 (a)
oppossum
(Monodelphis domestica)
Mammalia ANKRD13A 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves ANKRD13A 35
  • 73.68 (n)
  • 76.41 (a)
ANKRD13A 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9215 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4388 35
zebrafish
(Danio rerio)
Actinopterygii ankrd13a 35
  • 62.92 (n)
  • 65.76 (a)
Dr.27327 35
ankrd13a 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15118 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18F10.7 35
  • 47.91 (n)
  • 37.01 (a)
C18F10.7 36
  • 32 (a)
OneToMany
Species with no ortholog for ANKRD13A:
  • 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
VAR_048276 -
rs741374 -- 110,024,575(-) CAATC(A/G)TCTCC intron-variant
rs2302689 -- 110,018,370(+) TGCCC(A/G)AATGA intron-variant, nc-transcript-variant, reference, synonymous-codon
rs2136797 -- 110,004,063(-) CTCCC(A/G)CCTCA intron-variant
rs1912516 -- 110,001,637(-) TTGAA(A/G)CCAGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv884 CNV Insertion 18451855

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

HapMap Linkage Disequilibrium report
ANKRD13A
Human Gene Mutation Database (HGMD)
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: 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. (Mol. Biol. Cell 2012) 3 4 67
  2. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for ANKRD13A Gene

Sources for ANKRD13A Gene

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