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Aliases for ANKDD1A Gene

Aliases for ANKDD1A Gene

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

External Ids for ANKDD1A Gene

Previous GeneCards Identifiers for ANKDD1A Gene

  • GC15P062995
  • GC15P065204
  • GC15P042029
  • GC15P064958
  • GC15P065428
  • GC15P065455
  • GC15P066306
  • GC15P066854
  • GC15P067383
  • GC15P067906
  • GC15P068396

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.

Additional gene information for ANKDD1A Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for ANKDD1A Gene

Promoters and enhancers for ANKDD1A 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
GH15J064891 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 676.7 -17.0 -17001 7.8 HDGF PKNOX1 ATF1 SMAD1 ARID4B SIN3A IRF4 ZNF766 ZNF207 ZNF143 ANKDD1A PLEKHO2 INTS14 PARP16 ZNF609 PDCD7 CSNK1G1 SLC24A1 TRIP4 ENSG00000259635
GH15J064911 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.7 +0.0 16 1.4 MAZ SP3 SP2 SIN3A ZNF335 CTBP1 POLR2A ZBTB26 ZFX ZBTB17 ANKDD1A PLEKHO2 ENSG00000275332 ENSG00000249240
GH15J064840 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.7 -67.4 -67441 7.7 HDGF PKNOX1 ARNT ARID4B SIN3A ZBTB7B ZNF143 SP3 SP5 REST PLEKHO2 ANKDD1A RBPMS2 SPG21 OAZ2 ZNF609 TRIP4 ENSG00000249240 GC15M064899
GH15J064880 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 23.6 -28.5 -28510 4.8 HDGF PKNOX1 SMAD1 NFIB SIN3A STAT5A FEZF1 BATF RARA ZNF335 PLEKHO2 ANKDD1A OAZ2 SPG21 ZNF609 GC15M064899 ENSG00000249240
GH15J064903 Enhancer 1.2 Ensembl ENCODE dbSUPER 27.2 -6.9 -6883 2.5 HDGF RB1 ARID4B SIN3A ZBTB40 KLF5 IRF4 RAD21 YY1 ZNF143 PLEKHO2 ANKDD1A GC15M064899 ENSG00000249240
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKDD1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKDD1A gene promoter:
  • MyoD
  • AML1a
  • p53
  • USF1
  • USF-1
  • E2F-1
  • E2F
  • NRF-2
  • Tal-1beta
  • ITF-2

Genomic Locations for ANKDD1A Gene

Genomic Locations for ANKDD1A Gene
chr15:64,911,902-64,958,700
(GRCh38/hg38)
Size:
46,799 bases
Orientation:
Plus strand
chr15:65,204,101-65,251,042
(GRCh37/hg19)
Size:
46,942 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

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

Protein Domains for ANKDD1A Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for ANKDD1A Gene

Function for ANKDD1A Gene

Phenotypes From GWAS Catalog for ANKDD1A Gene

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

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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

Subcellular locations from the

Human Protein Atlas (HPA)

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

Drugs & Compounds for ANKDD1A Gene

No Compound Related Data Available

Transcripts for ANKDD1A Gene

mRNA/cDNA for ANKDD1A Gene

(1) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(67) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANKDD1A Gene

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

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for ANKDD1A Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ANKDD1A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKDD1A 34 33
  • 86.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia A730067D02Rik 33
  • 84.44 (n)
Ankdd1a 16 34
  • 82 (a)
rat
(Rattus norvegicus)
Mammalia Ankdd1a 33
  • 83.2 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKDD1A 34
  • 67 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANKDD1A 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKDD1A 34 33
  • 67.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKDD1A 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankdd1a 33
  • 63.7 (n)
zebrafish
(Danio rerio)
Actinopterygii ankdd1a 34 33
  • 63.04 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8740 33
worm
(Caenorhabditis elegans)
Secernentea mib-1 34
  • 15 (a)
ManyToMany
ikb-1 34
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKDD1A: view image

Paralogs for ANKDD1A Gene

Paralogs for ANKDD1A Gene

(44) SIMAP similar genes for ANKDD1A Gene using alignment to 6 proteins:

  • AKD1A_HUMAN
  • A4QMR4_HUMAN
  • D6RD28_HUMAN
  • E9PHA0_HUMAN
  • Q6PI29_HUMAN
  • Q8TAJ8_HUMAN
genes like me logo Genes that share paralogs with ANKDD1A: view

Variants for ANKDD1A Gene

Sequence variations from dbSNP and Humsavar for ANKDD1A Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000010587 -- 64,949,070(+) G/A intron_variant
rs1000030077 -- 64,929,531(+) A/G intron_variant
rs1000101617 -- 64,929,298(+) C/G intron_variant
rs1000235854 -- 64,926,677(+) T/A intron_variant
rs1000252451 -- 64,913,307(+) A/G intron_variant

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

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

Additional Variant Information 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

Additional Disease Information for 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 RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58
  5. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 58

Products for ANKDD1A Gene

Sources for ANKDD1A Gene

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