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Aliases for ANKDD1A Gene

Aliases for ANKDD1A Gene

  • Ankyrin Repeat And Death Domain Containing 1A 2 3 5

External Ids for ANKDD1A Gene

Previous GeneCards Identifiers for ANKDD1A Gene

  • GC15P062995
  • GC15P065204
  • GC15P042029
  • GC15P064958
  • GC15P065428
  • GC15P065455
  • GC15P066306

Summaries for ANKDD1A Gene

GeneCards Summary for ANKDD1A Gene

ANKDD1A (Ankyrin Repeat And Death Domain Containing 1A) is a Protein Coding gene. An important paralog of this gene is ANKDD1B.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKDD1A Gene

Genomics for ANKDD1A Gene

Regulatory Elements for ANKDD1A Gene

Enhancers for ANKDD1A 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
GH15F064891 1.9 FANTOM5 Ensembl ENCODE 27.2 -16.7 -16702 8.4 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 PLEKHO2 ANKDD1A ZNF609 RBPMS2 SPG21 CILP OAZ2 PARP16 GC15M064899 ENSG00000249240
GH15F064880 1.6 FANTOM5 Ensembl ENCODE 23.5 -28.5 -28511 4.8 HDGF PKNOX1 SIN3A FEZF1 RARA YY1 SCRT2 ETV6 FOS CREM PLEKHO2 ANKDD1A SLC24A1 ZNF609 LOC646358 OAZ2 SPG21 GC15M064899 ENSG00000249240
GH15F064871 1.6 FANTOM5 Ensembl ENCODE 22.3 -36.2 -36228 7.7 PKNOX1 ARID4B RAD21 YY1 RARA ZNF121 FOS THAP11 MIXL1 CEBPB PLEKHO2 ANKDD1A TRIP4 OAZ2 SPG21 GC15M064899 ENSG00000249240
GH15F064902 1 Ensembl ENCODE 27.2 -7.8 -7766 4.3 HDGF CTCF CBX3 ARID4B CHD7 RAD21 TEAD3 FOXK2 POLR2A ZNF143 PLEKHO2 ANKDD1A RBPMS2 GC15M064899
GH15F064840 1.5 FANTOM5 ENCODE 15.7 -67.4 -67442 7.7 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 CBX5 PLEKHO2 ANKDD1A ZNF609 RBPMS2 SPG21 CILP OAZ2 TRIP4 ENSG00000249240 GC15M064899
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANKDD1A on UCSC Golden Path with GeneCards custom track

Promoters for ANKDD1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001795984 -1 1400 ZNF263 MAZ SP3 NR2F1 SP2 ZEB2 ARID1B POLR2A IKZF1 ZBTB26

Genomic Location for ANKDD1A Gene

Chromosome:
15
Start:
64,911,902 bp from pter
End:
64,958,700 bp from pter
Size:
46,799 bases
Orientation:
Plus strand

Genomic View for ANKDD1A Gene

Genes around ANKDD1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKDD1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKDD1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKDD1A Gene

Proteins for ANKDD1A Gene

  • Protein details for ANKDD1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q495B1-AKD1A_HUMAN
    Recommended name:
    Ankyrin repeat and death domain-containing protein 1A
    Protein Accession:
    Q495B1
    Secondary Accessions:
    • Q495B2
    • Q495B3
    • Q8N7A0
    • Q8NBS5

    Protein attributes for ANKDD1A Gene

    Size:
    522 amino acids
    Molecular mass:
    57550 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05399.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAC11532.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKDD1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKDD1A Gene

Post-translational modifications for ANKDD1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKDD1A Gene

No data available for DME Specific Peptides for ANKDD1A Gene

Domains & Families for ANKDD1A Gene

Gene Families for ANKDD1A Gene

Protein Domains for ANKDD1A Gene

Graphical View of Domain Structure for InterPro Entry

Q495B1

UniProtKB/Swiss-Prot:

AKD1A_HUMAN :
  • Contains 1 death domain.
  • Contains 11 ANK repeats.
Domain:
  • Contains 1 death domain.
Similarity:
  • Contains 11 ANK repeats.
genes like me logo Genes that share domains with ANKDD1A: view

Function for ANKDD1A Gene

genes like me logo Genes that share phenotypes with ANKDD1A: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ANKDD1A Gene

Localization for ANKDD1A 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 ANKDD1A gene
Compartment Confidence
peroxisome 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKDD1A Gene

Pathways & Interactions for ANKDD1A Gene

SuperPathways for ANKDD1A Gene

No Data Available

Interacting Proteins for ANKDD1A Gene

Gene Ontology (GO) - Biological Process for ANKDD1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with ANKDD1A: view

No data available for Pathways by source and SIGNOR curated interactions for ANKDD1A Gene

Transcripts for ANKDD1A Gene

Unigene Clusters for ANKDD1A Gene

Ankyrin repeat and death domain containing 1A:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKDD1A Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: - - - -
SP2: - - - - - -
SP3:
SP4: - - - -
SP5: - -
SP6: - - - -
SP7:
SP8: - -

Relevant External Links for ANKDD1A Gene

GeneLoc Exon Structure for
ANKDD1A
ECgene alternative splicing isoforms for
ANKDD1A

Expression for ANKDD1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKDD1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANKDD1A Gene

This gene is overexpressed in Heart (67.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKDD1A Gene



Protein tissue co-expression partners for ANKDD1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKDD1A Gene:

ANKDD1A

SOURCE GeneReport for Unigene cluster for ANKDD1A Gene:

Hs.207157
genes like me logo Genes that share expression patterns with ANKDD1A: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ANKDD1A Gene

Orthologs for ANKDD1A Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKDD1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKDD1A 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia ANKDD1A 34 35
  • 86.49 (n)
mouse
(Mus musculus)
Mammalia A730067D02Rik 34
  • 84.44 (n)
Ankdd1a 16 35
  • 82 (a)
rat
(Rattus norvegicus)
Mammalia Ankdd1a 34
  • 83.2 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKDD1A 35
  • 67 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANKDD1A 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKDD1A 34 35
  • 67.08 (n)
lizard
(Anolis carolinensis)
Reptilia ANKDD1A 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankdd1a 34
  • 63.7 (n)
zebrafish
(Danio rerio)
Actinopterygii ankdd1a 34 35
  • 63.04 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8740 34
worm
(Caenorhabditis elegans)
Secernentea ikb-1 35
  • 15 (a)
ManyToMany
mib-1 35
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToMany
Species where no ortholog for ANKDD1A 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 ANKDD1A Gene

ENSEMBL:
Gene Tree for ANKDD1A (if available)
TreeFam:
Gene Tree for ANKDD1A (if available)

Paralogs for ANKDD1A Gene

Variants for ANKDD1A Gene

Sequence variations from dbSNP and Humsavar for ANKDD1A Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs10152128 -- 64,936,510(+) ACTTG(C/T)TGGTA intron-variant
rs10152931 -- 64,937,610(+) gtagt(C/T)ccagc intron-variant
rs10851743 -- 64,935,986(+) TGGTA(C/T)TACAA intron-variant
rs11071820 -- 64,912,086(+) CGTCT(G/T)TGTGG intron-variant
rs111063808 -- 64,951,673(+) CTTTC(C/T)TTCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKDD1A Gene

Variant ID Type Subtype PubMed ID
nsv833041 CNV loss 17160897
nsv569703 CNV loss 21841781
nsv1127442 CNV deletion 24896259
nsv1116082 CNV deletion 24896259
nsv1110256 CNV duplication 24896259
nsv1049654 CNV loss 25217958
esv3636747 CNV loss 21293372
esv2763104 CNV gain 21179565
esv2659431 CNV deletion 23128226
dgv31n68 CNV loss 17160897

Variation tolerance for ANKDD1A Gene

Residual Variation Intolerance Score: 91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.28; 90.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKDD1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKDD1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKDD1A Gene

Disorders for ANKDD1A Gene

Relevant External Links for ANKDD1A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKDD1A

No disorders were found for ANKDD1A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKDD1A Gene

Publications for ANKDD1A Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  3. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64
  4. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C. … Soranzo N. (Nature 2011) 3 64
  5. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody M.C. … Nusbaum C. (Nature 2006) 4 64

Products for ANKDD1A Gene

Sources for ANKDD1A Gene

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