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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

Regulatory Elements for AKNAD1 Gene

Enhancers for AKNAD1 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
GH01H109257 1.4 FANTOM5 ENCODE dbSUPER 19.6 -399.4 -399404 1 BCOR KLF1 ZIC2 ZKSCAN1 ZNF121 ZFHX2 GLIS2 PATZ1 FOS ATF7 C1orf194 AKNAD1 CELSR2 PSRC1 PIR46363
GH01H108827 1.5 Ensembl ENCODE dbSUPER 12.7 +28.0 28025 4 HDGF PKNOX1 ATF1 SIN3A ZNF2 YY1 TCF12 CBX5 GATA2 ZNF143 GPSM2 AKNAD1 SPATA42 WDR47 HENMT1 LOC105378891 GC01P108791
GH01H108813 1.2 ENCODE dbSUPER 11.4 +42.4 42444 4 PKNOX1 ATF1 FEZF1 YY1 GLIS2 FOS ATF7 REST ZNF592 SMARCA4 SPATA42 AKNAD1 ENSG00000232971 TMEM167B STXBP3 LOC105378891 GC01P108791
GH01H108913 0.9 ENCODE 11.6 -55.1 -55092 0 HDAC1 PKNOX1 ATF1 TBL1XR1 ARNT CHAMP1 TCF12 GATA2 ATF7 ZNF592 AKNAD1 SPATA42 WDR47 RANP5 GPSM2 GC01P108959
GH01H108898 0.7 ENCODE 11.7 -40.1 -40072 0 CTCF ZNF654 TBL1XR1 TRIM22 REST RAD21 RFX5 CC2D1A TFDP1 KLF16 SPATA42 AKNAD1 GPSM2 GC01P108959
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AKNAD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AKNAD1 Gene

Chromosome:
1
Start:
108,815,898 bp from pter
End:
108,858,242 bp from pter
Size:
42,345 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

CRISPR Products

miRNA for AKNAD1 Gene

miRTarBase miRNAs that target AKNAD1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AKNAD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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: ENSP00000359018 Q5T1N1-AKND1_HUMAN for AKNAD1 Gene via STRING IID

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AKNAD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 Sequence Context AA Info Type
rs1000006186 -- 108,840,333(+) ATCTG(C/T)CGACA intron-variant
rs1000025405 -- 108,839,861(+) ACAAA(A/C)AAAAT intron-variant
rs1000058441 -- 108,858,370(+) TCTTT(A/C)TCTCC intron-variant, upstream-variant-2KB
rs1000100889 -- 108,859,490(+) AAGAT(-/A)AGAGT downstream-variant-500B, upstream-variant-2KB
rs1000203576 -- 108,843,299(+) TTCAC(A/G)TGCAA intron-variant

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

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

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)

Relevant External Links 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

Relevant External Links for AKNAD1

Genetic Association Database (GAD)
AKNAD1
Human Genome Epidemiology (HuGE) Navigator
AKNAD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKNAD1

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 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 60
  5. CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations. (PMID: 26292654) Dajani R … Hakonarson H (Scientific reports 2015) 3 60

Products for AKNAD1 Gene

Sources for AKNAD1 Gene

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