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] See more...

Aliases for AKNAD1 Gene

Aliases for AKNAD1 Gene

  • AKNA Domain Containing 1 2 3 5
  • Protein AKNAD1 3 4
  • C1orf62 3 4
  • Chromosome 1 Open Reading Frame 62 2
  • MGC26989 2
  • AKNAD1 5

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. Diseases associated with AKNAD1 include Autosomal Recessive Congenital Ichthyosis. An important paralog of this gene is AKNA.

Additional gene information for AKNAD1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKNAD1 Gene

Genomics for AKNAD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH01J108961 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.2 233 2.7 SP1 CREB1 HNRNPL PRDM10 ZNF629 TFE3 IKZF1 NFKBIZ KDM1A ZNF692 AKNAD1 CLCC1 PRPF38B C1orf194 WDR47 TAF13 lnc-WDR47-1 GPSM2
GH01J109257 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 19.6 -294.2 -294161 1.3 CREB1 ZNF629 RFX1 ZNF692 ZIC2 PATZ1 ATF7 ZKSCAN1 ATF2 ZFHX2 piR-52364 C1orf194 AKNAD1 CELSR2 PSRC1
GH01J108827 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 12.5 +133.3 133267 4.8 CREB1 CTCF LEF1 IKZF1 ZNF692 JUND MTA2 ZIC2 PKNOX1 ZNF24 GPSM2 AKNAD1 WDR47 HENMT1 SPATA42 LOC105378891 lnc-AKNAD1-2 STXBP3
GH01J108813 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +147.7 147685 4.9 PRDM10 ZNF629 TFE3 RFX1 ZHX2 JUND PRDM1 PKNOX1 POLR2A PATZ1 AKNAD1 ENSG00000232971 TMEM167B STXBP3 LOC105378891 lnc-AKNAD1-1 GPSM2
GH01J108913 Enhancer 1 Ensembl ENCODE 11.6 +50.2 50183 1.4 IKZF1 JUND DDX20 PKNOX1 ZNF24 DPF2 HDAC1 SOX6 GATAD2B TCF12 AKNAD1 SPATA42 WDR47 RANP5 CLCC1 MN296835 piR-30791-003 GPSM2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKNAD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKNAD1

Genomic Locations for AKNAD1 Gene

Genomic Locations for AKNAD1 Gene
chr1:108,815,898-108,963,484
(GRCh38/hg38)
Size:
147,587 bases
Orientation:
Minus strand
chr1:109,358,520-109,506,106
(GRCh37/hg19)
Size:
147,587 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:
  • Protein AKNAD1 (AKND1_HUMAN)
  • cDNA FLJ57956 (B4DET8_HUMAN)

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

Gene Ontology (GO) - Molecular Function for AKNAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
genes like me logo Genes that share ontologies with AKNAD1: view
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKNAD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 3
cytosol 2
cytoskeleton 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

PathCards logo

SuperPathways for AKNAD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AKNAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001837 epithelial to mesenchymal transition IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with AKNAD1: view

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

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKNAD1

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

Expression for AKNAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKNAD1

SOURCE GeneReport for Unigene cluster for AKNAD1 Gene:

Hs.729441

Evidence on tissue expression from TISSUES for AKNAD1 Gene

  • Nervous system(4.1)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with AKNAD1: view

No data available for mRNA Expression by UniProt/SwissProt 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 30
  • 98.92 (n)
-- 31
  • 98 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia AKNAD1 30 31
  • 79.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AKNAD1 30 31
  • 79.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aknad1 30
  • 72 (n)
Mouse
(Mus musculus)
Mammalia Aknad1 30 17 31
  • 70.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AKNAD1 31
  • 36 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AKNAD1 31
  • 29 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 54 (a)
OneToMany
-- 31
  • 28 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii AKNAD1 31
  • 23 (a)
OneToOne
Species where no ortholog for AKNAD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for AKNAD1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKNAD1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs11580913 - p.Leu352Val
rs12060255 - p.Gly582Val
rs1277207 - p.Ser61Asn
rs17621411 - p.Ala104Val
rs17852793 - p.Glu167Gly

Additional dbSNP identifiers (rs#s) for AKNAD1 Gene

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)

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

MalaCards: The human disease database

(1) MalaCards diseases for AKNAD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal recessive congenital ichthyosis
  • arci
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AKNAD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AKNAD1: view

No data available for 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 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3

Products for AKNAD1 Gene

Sources for AKNAD1 Gene