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Aliases for AKNAD1 Gene

Aliases for AKNAD1 Gene

  • AKNA Domain Containing 1 2 3 5
  • C1orf62 3 4
  • Chromosome 1 Open Reading Frame 62 2
  • Protein AKNAD1 3

External Ids for AKNAD1 Gene

Previous HGNC Symbols for AKNAD1 Gene

  • C1orf62

Previous GeneCards Identifiers for AKNAD1 Gene

  • GC01M109161
  • GC01M109359
  • GC01M107251

Summaries for AKNAD1 Gene

Entrez Gene Summary for AKNAD1 Gene

  • This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

GeneCards Summary for AKNAD1 Gene

AKNAD1 (AKNA Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is ENSG00000274068.

Additional gene information for AKNAD1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKNAD1 Gene

Genomics for AKNAD1 Gene

GeneHancer (GH) Regulatory Elements for AKNAD1 Gene

Promoters and enhancers for AKNAD1 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
GH01I108858 Promoter 0.5 EPDnew 550.8 +1.1 1128 0.1 SPATA42 AKNAD1 GC01M108838 ENSG00000274068 GC01M108841
GH01I108857 Enhancer 0.3 ENCODE 550.8 -0.5 -485 1.6 ZBTB33 SPATA42 AKNAD1 GPSM2 ENSG00000274068 GC01M108841
GH01I108875 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 12.9 -19.6 -19643 3.9 PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF143 GPSM2 PSRC1 AKNAD1 SLC25A24 PRPF38B SPATA42 CLCC1 GC01P108959 ENSG00000274068 GC01M108841
GH01I108961 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.7 -104.9 -104949 2.6 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ENSG00000274068 CLCC1 GNAI3 AKNAD1 SLC25A24 PRPF38B C1orf194 WDR47 TAF13 GC01P108959
GH01I109257 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 19.6 -399.4 -399403 1.3 BCOR KLF1 ZIC2 ZKSCAN1 ZNF121 ZFHX2 GLIS2 PATZ1 FOS ATF7 PIR46363 C1orf194 AKNAD1 CELSR2 PSRC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AKNAD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for AKNAD1 Gene

Genomic Locations for AKNAD1 Gene
chr1:108,815,898-108,858,242
(GRCh38/hg38)
Size:
42,345 bases
Orientation:
Minus strand
chr1:109,358,520-109,506,106
(GRCh37/hg19)

Genomic View for AKNAD1 Gene

Genes around AKNAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKNAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKNAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKNAD1 Gene

Proteins for AKNAD1 Gene

  • Protein details for AKNAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T1N1-AKND1_HUMAN
    Recommended name:
    Protein AKNAD1
    Protein Accession:
    Q5T1N1
    Secondary Accessions:
    • B9EK62
    • Q5T1N0
    • Q8N990
    • Q8NCN9

    Protein attributes for AKNAD1 Gene

    Size:
    836 amino acids
    Molecular mass:
    92864 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AKNAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKNAD1 Gene

Post-translational modifications for AKNAD1 Gene

No Post-translational modifications

Other Protein References for AKNAD1 Gene

No data available for DME Specific Peptides for AKNAD1 Gene

Domains & Families for AKNAD1 Gene

Gene Families for AKNAD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AKNAD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKNAD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5T1N1

UniProtKB/Swiss-Prot:

AKND1_HUMAN :
  • Belongs to the AKNA family.
Family:
  • Belongs to the AKNA family.
genes like me logo Genes that share domains with AKNAD1: view

Function for AKNAD1 Gene

Phenotypes From GWAS Catalog for AKNAD1 Gene

Phenotypes for AKNAD1 Gene

genes like me logo Genes that share phenotypes with AKNAD1: view

Animal Model Products

miRNA for AKNAD1 Gene

miRTarBase miRNAs that target AKNAD1

Inhibitory RNA 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 AKNAD1 Gene

Localization for AKNAD1 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 AKNAD1 gene
Compartment Confidence
nucleus 4
cytosol 3
endoplasmic reticulum 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for AKNAD1 Gene

Pathways & Interactions for AKNAD1 Gene

SuperPathways for AKNAD1 Gene

No Data Available

Interacting Proteins for AKNAD1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000359018%0d%0a9606.ENSP00000355133%0d%0a
Selected Interacting proteins: Q5T1N1-AKND1_HUMAN ENSP00000359018 for AKNAD1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for AKNAD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for AKNAD1 Gene

Drugs & Compounds for AKNAD1 Gene

No Compound Related Data Available

Transcripts for AKNAD1 Gene

mRNA/cDNA for AKNAD1 Gene

Unigene Clusters for AKNAD1 Gene

AKNA domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKNAD1 Gene

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

ExUns: 17b ^ 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for AKNAD1 Gene

GeneLoc Exon Structure for
AKNAD1
ECgene alternative splicing isoforms for
AKNAD1

Expression for AKNAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AKNAD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AKNAD1 Gene

This gene is overexpressed in Testis (x28.4).

Protein differential expression in normal tissues from HIPED for AKNAD1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (54.9) and Platelet (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AKNAD1 Gene



Protein tissue co-expression partners for AKNAD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AKNAD1 Gene:

AKNAD1

SOURCE GeneReport for Unigene cluster for AKNAD1 Gene:

Hs.729441
genes like me logo Genes that share expression patterns with AKNAD1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKNAD1 Gene

Orthologs for AKNAD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKNAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKNAD1 33
  • 98.92 (n)
-- 34
  • 98 (a)
OneToMany
-- 34
  • 45 (a)
OneToMany
dog
(Canis familiaris)
Mammalia AKNAD1 33 34
  • 79.84 (n)
cow
(Bos Taurus)
Mammalia AKNAD1 33 34
  • 79.35 (n)
rat
(Rattus norvegicus)
Mammalia Aknad1 33
  • 72 (n)
mouse
(Mus musculus)
Mammalia Aknad1 33 16 34
  • 70.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AKNAD1 34
  • 36 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AKNAD1 34
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 54 (a)
OneToMany
-- 34
  • 28 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii AKNAD1 34
  • 23 (a)
OneToOne
Species where no ortholog for AKNAD1 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AKNAD1 Gene

ENSEMBL:
Gene Tree for AKNAD1 (if available)
TreeFam:
Gene Tree for AKNAD1 (if available)

Paralogs for AKNAD1 Gene

Paralogs for AKNAD1 Gene

genes like me logo Genes that share paralogs with AKNAD1: view

Variants for AKNAD1 Gene

Sequence variations from dbSNP and Humsavar for AKNAD1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000006186 -- 108,840,333(-) T/C intron_variant
rs1000025405 -- 108,839,861(-) A/C intron_variant
rs1000058441 -- 108,858,370(-) C/A upstream_transcript_variant
rs1000100889 -- 108,859,491(-) A/AA upstream_transcript_variant
rs1000203576 -- 108,843,299(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AKNAD1 Gene

Variant ID Type Subtype PubMed ID
nsv823943 CNV loss 20364138
nsv818322 CNV loss 17921354
nsv547416 CNV loss 21841781
nsv526819 CNV loss 19592680
nsv521427 CNV loss 19592680
nsv517381 CNV loss 19592680
nsv463117 CNV loss 19166990
nsv463106 CNV loss 19166990
nsv2287 CNV deletion 18451855
nsv1013192 CNV gain 25217958
esv7631 CNV loss 19470904
esv3587140 CNV gain 21293372
esv3587139 CNV gain 21293372
esv3587138 CNV loss 21293372
esv3567215 CNV deletion 23714750
esv2715929 CNV deletion 23290073
esv2670634 CNV deletion 23128226
esv26096 CNV loss 19812545
esv2421353 CNV deletion 20811451
dgv63n67 CNV loss 20364138
dgv489n54 CNV loss 21841781
dgv488n54 CNV loss 21841781

Variation tolerance for AKNAD1 Gene

Residual Variation Intolerance Score: 96.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.91; 74.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKNAD1 Gene

Human Gene Mutation Database (HGMD)
AKNAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKNAD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKNAD1 Gene

Disorders for AKNAD1 Gene

Additional Disease Information for AKNAD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for AKNAD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AKNAD1 Gene

Publications for AKNAD1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 58
  5. CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations. (PMID: 26292654) Dajani R … Hakonarson H (Scientific reports 2015) 3 58

Products for AKNAD1 Gene

Sources for AKNAD1 Gene

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