Aliases for OXLD1 Gene

Aliases for OXLD1 Gene

  • Oxidoreductase Like Domain Containing 1 2 3 5
  • Oxidoreductase-Like Domain-Containing Protein 1 3 4
  • C17orf90 3 4
  • Oxidoreductase-Like Domain Containing 1 2
  • Chromosome 17 Open Reading Frame 90 2
  • MGC104712 2
  • OXLD1 5

External Ids for OXLD1 Gene

Previous HGNC Symbols for OXLD1 Gene

  • C17orf90

Previous GeneCards Identifiers for OXLD1 Gene

  • GC17M079633

Summaries for OXLD1 Gene

GeneCards Summary for OXLD1 Gene

OXLD1 (Oxidoreductase Like Domain Containing 1) is a Protein Coding gene. Diseases associated with OXLD1 include Mixed Receptive-Expressive Language Disorder and Baraitser-Winter Syndrome.

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 OXLD1 Gene

Genomics for OXLD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OXLD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OXLD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OXLD1

Genomic Locations for OXLD1 Gene

Latest Assembly
chr17:81,665,036-81,666,635
(GRCh38/hg38)
Size:
1,600 bases
Orientation:
Minus strand

Previous Assembly
chr17:79,632,066-79,633,635
(GRCh37/hg19 by Entrez Gene)
Size:
1,570 bases
Orientation:
Minus strand

chr17:79,632,066-79,633,665
(GRCh37/hg19 by Ensembl)
Size:
1,600 bases
Orientation:
Minus strand

Genomic View for OXLD1 Gene

Genes around OXLD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OXLD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OXLD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OXLD1 Gene

Proteins for OXLD1 Gene

  • Protein details for OXLD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5BKU9-OXLD1_HUMAN
    Recommended name:
    Oxidoreductase-like domain-containing protein 1
    Protein Accession:
    Q5BKU9
    Secondary Accessions:
    • A6ND24

    Protein attributes for OXLD1 Gene

    Size:
    147 amino acids
    Molecular mass:
    15855 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OXLD1 Gene

Post-translational modifications for OXLD1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for OXLD1 Gene

Domains & Families for OXLD1 Gene

Gene Families for OXLD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for OXLD1 Gene

genes like me logo Genes that share domains with OXLD1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for OXLD1 Gene

Function for OXLD1 Gene

Phenotypes From GWAS Catalog for OXLD1 Gene

genes like me logo Genes that share phenotypes with OXLD1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXLD1

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 OXLD1 Gene

Localization for OXLD1 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 OXLD1 gene
Compartment Confidence
mitochondrion 2
cytosol 2
extracellular 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for OXLD1 Gene

Pathways & Interactions for OXLD1 Gene

PathCards logo

SuperPathways for OXLD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OXLD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for OXLD1 Gene

Drugs & Compounds for OXLD1 Gene

No Compound Related Data Available

Transcripts for OXLD1 Gene

mRNA/cDNA for OXLD1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXLD1

Alternative Splicing Database (ASD) splice patterns (SP) for OXLD1 Gene

No ASD Table

Relevant External Links for OXLD1 Gene

GeneLoc Exon Structure for
OXLD1

Expression for OXLD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OXLD1 Gene

Protein differential expression in normal tissues from HIPED for OXLD1 Gene

This gene is overexpressed in Lung (19.2), Heart (10.9), Frontal cortex (7.5), and Ovary (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OXLD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OXLD1

SOURCE GeneReport for Unigene cluster for OXLD1 Gene:

Hs.405942
genes like me logo Genes that share expression patterns with OXLD1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OXLD1 Gene

Orthologs for OXLD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OXLD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia OXLD1 29 30
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OXLD1 29 30
  • 78.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OXLD1 29 30
  • 78.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Oxld1 29 16 30
  • 72.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OXLD1 30
  • 59 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii oxld1 30
  • 34 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5500 30
  • 27 (a)
OneToOne
Species where no ortholog for OXLD1 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)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 OXLD1 Gene

ENSEMBL:
Gene Tree for OXLD1 (if available)
TreeFam:
Gene Tree for OXLD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OXLD1: view image
Alliance of Genome Resources:
Additional Orthologs for OXLD1

Paralogs for OXLD1 Gene

No data available for Paralogs for OXLD1 Gene

Variants for OXLD1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OXLD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OXLD1 Gene

Variant ID Type Subtype PubMed ID
esv26223 CNV gain+loss 19812545
nsv428351 CNV gain 18775914
nsv470620 CNV loss 18288195
nsv828128 CNV loss 20364138
nsv952390 CNV deletion 24416366

Variation tolerance for OXLD1 Gene

Residual Variation Intolerance Score: 89.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OXLD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OXLD1
Leiden Open Variation Database (LOVD)
OXLD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OXLD1 Gene

Disorders for OXLD1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for OXLD1 Gene - From: COP

Disorder Aliases PubMed IDs
mixed receptive-expressive language disorder
baraitser-winter syndrome
  • brws
total anomalous pulmonary venous return 1
  • tapvr1
adjustment disorder
  • adjustment disease
croup
  • acute laryngotracheobronchitis
- elite association - COSMIC cancer census association via MalaCards
Search OXLD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OXLD1

genes like me logo Genes that share disorders with OXLD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OXLD1 Gene

Publications for OXLD1 Gene

  1. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. (PMID: 30652415) Liu Y … Chen L (Cancer medicine 2019) 3
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3
  5. Identification of genes related to Parkinson's disease using expressed sequence tags. (PMID: 17213182) Kim JM … Kim NS (DNA research : an international journal for rapid publication of reports on genes and genomes 2006) 3

Products for OXLD1 Gene

Sources for OXLD1 Gene