Aliases for AXDND1 Gene

Aliases for AXDND1 Gene

  • Axonemal Dynein Light Chain Domain Containing 1 2 3 5
  • Axonemal Dynein Light Chain Domain-Containing Protein 1 3 4
  • C1orf125 3 4
  • Chromosome 1 Open Reading Frame 125 2
  • FLJ32940 2
  • AXDND1 5

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. Diseases associated with AXDND1 include Idiopathic Nephrotic Syndrome and Nephrotic Syndrome, Type 2.

Additional gene information for AXDND1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AXDND1 Gene

Genomics for AXDND1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AXDND1 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
GH01J179364 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 641 +0.2 208 2.6 RNF2 CREB1 PRDM10 ZNF629 ZNF512 RFX1 LEF1 POLR2A BACH1 TARDBP AXDND1 HSALNG0008757 lnc-AXDND1-1 LHX4 TDRD5 RALGPS2 SOAT1 TOR3A piR-53562-032 NPHS2
GH01J179293 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 21.7 -71.2 -71160 3.7 CEBPG SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 ZNF512 RFX1 SOAT1 TOR3A AXDND1 LHX4 TDRD5 LOC100420262
GH01J179309 Enhancer 1.1 FANTOM5 Ensembl ENCODE 21.6 -54.7 -54703 4.8 IKZF1 DPF2 TCF12 CEBPB NFE2 ZNF316 FOS TRIM24 NCOR1 FOSL1 AXDND1 ABL2 TOR3A SOAT1 TDRD5 LOC100420262 lnc-AXDND1-1
GH01J179139 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 -223.1 -223104 5.6 IKZF1 SP1 JUND EGR1 CEBPB EZH2 JUN TCF12 FOS FOSL1 ABL2 lnc-ANGPTL1-6 TOR3A AXDND1 SOAT1 piR-33303-009
GH01J179326 Enhancer 0.7 FANTOM5 ENCODE 27.7 -37.8 -37781 3 JUND SPI1 CEBPB FOS MYC MAX AXDND1 TOR3A ABL2 TDRD5 SOAT1 FAM163A LOC100420262 lnc-AXDND1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AXDND1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AXDND1

Genomic Locations for AXDND1 Gene

Genomic Locations for AXDND1 Gene
chr1:179,365,704-179,554,735
(GRCh38/hg38)
Size:
189,032 bases
Orientation:
Plus strand
chr1:179,334,855-179,523,870
(GRCh37/hg19)
Size:
189,016 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; 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

No data available for DME Specific Peptides for AXDND1 Gene

Domains & Families for AXDND1 Gene

Gene Families for AXDND1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AXDND1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AXDND1 Gene

GenScript: Design optimal peptide antigens:
  • Axonemal dynein light chain domain-containing protein 1 (AXDN1_HUMAN)
  • Chromosome 1 open reading frame 125 (B1AM31_HUMAN)
genes like me logo Genes that share domains with AXDND1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AXDND1 Gene

Function for AXDND1 Gene

Phenotypes From GWAS Catalog for AXDND1 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AXDND1

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
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 AXDND1 gene
Compartment Confidence
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
peroxisome 0

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 AXDND1 Gene

Pathways & Interactions for AXDND1 Gene

PathCards logo

SuperPathways for AXDND1 Gene

No Data Available

Interacting Proteins for AXDND1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000356590 Q5T1B0-AXDN1_HUMAN for AXDND1 Gene via STRING IID

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

mRNA/cDNA for AXDND1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
14 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 AXDND1

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

No ASD Table

Relevant External Links for AXDND1 Gene

GeneLoc Exon Structure for
AXDND1

Expression for AXDND1 Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AXDND1

SOURCE GeneReport for Unigene cluster for AXDND1 Gene:

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

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 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
Chimpanzee
(Pan troglodytes)
Mammalia AXDND1 30 31
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AXDND1 30 31
  • 85.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AXDND1 30 31
  • 84.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Axdnd1 30 17 31
  • 77.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1566124 30
  • 74.07 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AXDND1 31
  • 46 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AXDND1 31
  • 43 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AXDND1 30 31
  • 55.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AXDND1 31
  • 38 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100498160 30
  • 55.06 (n)
Zebrafish
(Danio rerio)
Actinopterygii axdnd1 30 31
  • 49.96 (n)
OneToOne
Species where no ortholog for AXDND1 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for AXDND1 Gene

ENSEMBL:
Gene Tree for AXDND1 (if available)
TreeFam:
Gene Tree for AXDND1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AXDND1: view image

Paralogs for AXDND1 Gene

(9) SIMAP similar genes for AXDND1 Gene using alignment to 8 proteins:

  • AXDN1_HUMAN
  • B1AM31_HUMAN
  • D6R9B7_HUMAN
  • D6RB87_HUMAN
  • D6RCN1_HUMAN
  • D6RDY4_HUMAN
  • D6REE1_HUMAN
  • F5GWM2_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AXDND1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
635471 Pathogenic: Nephrotic syndrome, idiopathic, steroid-resistant 179,552,652(+) T/TG FRAMESHIFT_VARIANT,INTRON_VARIANT
635511 Pathogenic: Nephrotic syndrome, idiopathic, steroid-resistant 179,551,396(+) T/A MISSENSE_VARIANT,INTRON_VARIANT
716056 Benign: not provided 179,551,434(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
734422 Likely Benign: not provided 179,551,212(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
751059 Benign: not provided 179,552,593(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AXDND1 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for AXDND1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
idiopathic nephrotic syndrome
nephrotic syndrome, type 2
  • nphs2
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with AXDND1: view

No data available for 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 (Nature genetics 2004) 2 3 4
  2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. 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 SD … DREAM investigators (Diabetes care 2010) 3
  5. 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

Products for AXDND1 Gene

Sources for AXDND1 Gene