Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AXDND1 Gene

Aliases for AXDND1 Gene

  • Axonemal Dynein Light Chain Domain Containing 1 2 3 5
  • C1orf125 3 4
  • Axonemal Dynein Light Chain Domain-Containing Protein 1 3
  • Chromosome 1 Open Reading Frame 125 2

External Ids for AXDND1 Gene

Previous HGNC Symbols for AXDND1 Gene

  • C1orf125

Summaries for AXDND1 Gene

GeneCards Summary for AXDND1 Gene

AXDND1 (Axonemal Dynein Light Chain Domain Containing 1) is a Protein Coding gene.

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 AXDND1 Gene

Genomics for AXDND1 Gene

Regulatory Elements for AXDND1 Gene

Enhancers for AXDND1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around AXDND1 on UCSC Golden Path with GeneCards custom track

Promoters for AXDND1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AXDND1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AXDND1 Gene

Chromosome:
1
Start:
179,365,718 bp from pter
End:
179,554,735 bp from pter
Size:
189,018 bases
Orientation:
Plus strand

Genomic View for AXDND1 Gene

Genes around AXDND1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AXDND1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AXDND1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AXDND1 Gene

Proteins for AXDND1 Gene

  • Protein details for AXDND1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T1B0-AXDN1_HUMAN
    Recommended name:
    Axonemal dynein light chain domain-containing protein 1
    Protein Accession:
    Q5T1B0
    Secondary Accessions:
    • Q6AWB2
    • Q96LJ3
    • Q96M01

    Protein attributes for AXDND1 Gene

    Size:
    1012 amino acids
    Molecular mass:
    118027 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAH10571.1; Type=Frameshift; Positions=655; Evidence={ECO:0000305};

    Alternative splice isoforms for AXDND1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AXDND1 Gene

Post-translational modifications for AXDND1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AXDND1 Gene

No data available for DME Specific Peptides for AXDND1 Gene

Domains & Families for AXDND1 Gene

Protein Domains for AXDND1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AXDND1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AXDND1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for AXDND1 Gene

Function for AXDND1 Gene

genes like me logo Genes that share phenotypes with AXDND1: view

Animal Model Products

CRISPR Products

Inhibitory RNA 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 AXDND1 Gene

Localization for AXDND1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AXDND1 Gene COMPARTMENTS Subcellular localization image for AXDND1 gene
Compartment Confidence
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for AXDND1 Gene

Pathways & Interactions for AXDND1 Gene

SuperPathways for AXDND1 Gene

No Data Available

Interacting Proteins for AXDND1 Gene

Gene Ontology (GO) - Biological Process for AXDND1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for AXDND1 Gene

Drugs & Compounds for AXDND1 Gene

No Compound Related Data Available

Transcripts for AXDND1 Gene

Unigene Clusters for AXDND1 Gene

Axonemal dynein light chain domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AXDND1 Gene

No ASD Table

Relevant External Links for AXDND1 Gene

GeneLoc Exon Structure for
AXDND1
ECgene alternative splicing isoforms for
AXDND1

Expression for AXDND1 Gene

mRNA expression in normal human tissues for AXDND1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AXDND1 Gene

This gene is overexpressed in Testis (x32.6) and Colon - Transverse (x4.1).

Protein differential expression in normal tissues from HIPED for AXDND1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (62.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AXDND1 Gene



Protein tissue co-expression partners for AXDND1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AXDND1 Gene:

AXDND1

SOURCE GeneReport for Unigene cluster for AXDND1 Gene:

Hs.658505
genes like me logo Genes that share expression patterns with AXDND1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for AXDND1 Gene

Orthologs for AXDND1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AXDND1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AXDND1 34
  • 84.33 (n)
  • 75.76 (a)
AXDND1 35
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AXDND1 34
  • 85.34 (n)
  • 77.55 (a)
AXDND1 35
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Axdnd1 34
  • 77.83 (n)
  • 68.45 (a)
Axdnd1 16
Axdnd1 35
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AXDND1 34
  • 99.41 (n)
  • 99.01 (a)
AXDND1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1566124 34
  • 74.07 (n)
  • 63.5 (a)
oppossum
(Monodelphis domestica)
Mammalia AXDND1 35
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AXDND1 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves AXDND1 34
  • 55.47 (n)
  • 40.41 (a)
AXDND1 35
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AXDND1 35
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498160 34
  • 55.06 (n)
  • 41.67 (a)
zebrafish
(Danio rerio)
Actinopterygii axdnd1 34
  • 49.96 (n)
  • 37.29 (a)
axdnd1 35
  • 32 (a)
OneToOne
Species where no ortholog for AXDND1 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AXDND1 Gene

ENSEMBL:
Gene Tree for AXDND1 (if available)
TreeFam:
Gene Tree for AXDND1 (if available)

Paralogs for AXDND1 Gene

genes like me logo Genes that share paralogs with AXDND1: view

No data available for Paralogs for AXDND1 Gene

Variants for AXDND1 Gene

Sequence variations from dbSNP and Humsavar for AXDND1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs17369441 - 179,491,671(+) AGTTG(C/T)GCGAT intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense
rs6425573 - 179,534,902(+) AAGAA(A/C/G)AACAA nc-transcript-variant, reference, missense
rs11577579 - 179,444,970(+) TTTAG(A/C)TCCTG intron-variant, nc-transcript-variant, reference, missense
rs6658180 - 179,534,908(+) AACAA(C/G)AAGAA nc-transcript-variant, reference, missense
rs928016 -- 179,548,231(+) ACTGA(A/G)GTAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AXDND1 Gene

Variant ID Type Subtype PubMed ID
dgv121e212 CNV loss 25503493
dgv225n106 CNV deletion 24896259
dgv471n100 CNV loss 25217958
dgv645n54 CNV loss 21841781
dgv647n54 CNV loss 21841781
dgv648n54 CNV loss 21841781
dgv649n54 CNV loss 21841781
dgv650n54 CNV loss 21841781
dgv651n54 CNV loss 21841781
dgv652n54 CNV loss 21841781
dgv653n54 CNV loss 21841781
dgv654n54 CNV loss 21841781
esv21515 CNV loss 19812545
esv2428003 CNV insertion 19546169
esv25164 CNV loss 19812545
esv25985 CNV loss 19812545
esv2668456 CNV deletion 23128226
esv2719884 CNV deletion 23290073
esv2762031 CNV gain 21179565
esv3304296 CNV mobile element insertion 20981092
esv33901 CNV loss 17666407
esv3543167 CNV deletion 23714750
esv3543189 CNV deletion 23714750
esv3575338 CNV gain 25503493
esv3578295 CNV loss 25503493
esv3578296 CNV loss 25503493
esv3588051 CNV gain 21293372
esv3588052 CNV loss 21293372
esv3588053 CNV loss 21293372
esv3588054 CNV loss 21293372
nsv1005278 CNV gain 25217958
nsv1113195 CNV deletion 24896259
nsv1122424 CNV deletion 24896259
nsv1122425 CNV deletion 24896259
nsv1122426 CNV deletion 24896259
nsv1133922 CNV deletion 24896259
nsv518403 CNV gain 19592680
nsv522746 CNV loss 19592680
nsv523087 CNV gain 19592680
nsv523253 CNV loss 19592680
nsv548279 CNV gain 21841781
nsv548297 CNV loss 21841781
nsv548298 CNV loss 21841781
nsv548326 CNV loss 21841781
nsv548330 CNV gain 21841781
nsv548331 CNV loss 21841781
nsv946523 CNV duplication 23825009

Variation tolerance for AXDND1 Gene

Residual Variation Intolerance Score: 60.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.31; 76.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AXDND1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AXDND1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AXDND1 Gene

Disorders for AXDND1 Gene

Relevant External Links for AXDND1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AXDND1

No disorders were found for AXDND1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AXDND1 Gene

Publications for AXDND1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3 4 65
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 65
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 65
  4. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini S.E. … Oksenberg J.R. (Hum. Mol. Genet. 2009) 3 65
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret G.B. … Chakravarti A. (Eur. J. Hum. Genet. 2009) 3 65

Products for AXDND1 Gene

Sources for AXDND1 Gene

Content