Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone rec... See more...

Aliases for OR13H1 Gene

Aliases for OR13H1 Gene

  • Olfactory Receptor Family 13 Subfamily H Member 1 2 3 5
  • Olfactory Receptor ORX-1 3 4
  • Olfactory Receptor 13H1 3 4
  • Olfactory Receptor, Family 13, Subfamily H, Member 1 2
  • Olfactory Receptor ORX1 3
  • OR13H1 5
  • ORX1 3

External Ids for OR13H1 Gene

Previous GeneCards Identifiers for OR13H1 Gene

  • GC0XU990345
  • GC0XP129384
  • GC0XP130403
  • GC0XP130505
  • GC0XP130677

Summaries for OR13H1 Gene

Entrez Gene Summary for OR13H1 Gene

  • Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

GeneCards Summary for OR13H1 Gene

OR13H1 (Olfactory Receptor Family 13 Subfamily H Member 1) is a Protein Coding gene. Diseases associated with OR13H1 include Lipoid Proteinosis Of Urbach And Wiethe and Pathologic Nystagmus. Among its related pathways are Signaling by GPCR and Olfactory transduction. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and olfactory receptor activity. An important paralog of this gene is OR2S2.

UniProtKB/Swiss-Prot Summary for OR13H1 Gene

Gene Wiki entry for OR13H1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR13H1 Gene

Genomics for OR13H1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR13H1 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
GH0XJ131566 Enhancer 1 Ensembl ENCODE 12.4 +21.9 21935 1 NCOR1 NFIC CEBPB HES1 BHLHE40 EP300 MBD2 CTBP1 NBN TAL1 OR13H1 OR13K1P IGSF1 ENSG00000286060
GH0XJ131564 Enhancer 0.8 Ensembl ENCODE 12.4 +21.1 21118 0.2 EP300 CUX1 JUND PKNOX1 FOXA1 NR2F6 NCOA3 MEIS2 ARID1B CREB1 OR13H1 OR13K1P IGSF1 ENSG00000286060
GH0XJ131572 Enhancer 0.5 Ensembl 12.5 +28.7 28725 3.4 JUND TCF7L2 FOXA1 MEIS2 ATF3 FOS RFX1 OR13H1 IGSF1 ENSG00000286060 OR13K1P
GH0XJ131577 Promoter/Enhancer 1 Ensembl ENCODE 0.3 +33.9 33925 3 IKZF1 TAF9B PRDM1 ZNF316 PRDM10 MLLT1 SUPT5H TAF7 POLR2A CEBPB IGSF1 ENSG00000286060 piR-52368-184 lnc-IGSF1-4 OR13K1P OR13H1
GH0XJ131476 Enhancer 0.6 Ensembl ENCODE 0.2 -65.9 -65928 2.2 ETS1 EGR1 NANOG IGSF1 HSALNG0140156 piR-45035-189 OR13H1 ARHGAP36
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR13H1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR13H1

Top Transcription factor binding sites by QIAGEN in the OR13H1 gene promoter:
  • C/EBPalpha
  • Cart-1
  • CUTL1
  • HNF-1
  • HNF-1A
  • HNF-3beta
  • POU2F1
  • POU2F1a
  • S8

Genomic Locations for OR13H1 Gene

Latest Assembly
chrX:131,543,976-131,545,056
(GRCh38/hg38)
Size:
1,081 bases
Orientation:
Plus strand

Previous Assembly
chrX:130,678,048-130,678,974
(GRCh37/hg19 by Entrez Gene)
Size:
927 bases
Orientation:
Plus strand

chrX:130,677,950-130,679,030
(GRCh37/hg19 by Ensembl)
Size:
1,081 bases
Orientation:
Plus strand

Genomic View for OR13H1 Gene

Genes around OR13H1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR13H1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR13H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR13H1 Gene

Proteins for OR13H1 Gene

  • Protein details for OR13H1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NG92-O13H1_HUMAN
    Recommended name:
    Olfactory receptor 13H1
    Protein Accession:
    Q8NG92
    Secondary Accessions:
    • B2RNQ3
    • Q6IET8
    • Q96R12

    Protein attributes for OR13H1 Gene

    Size:
    308 amino acids
    Molecular mass:
    34570 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR13H1 Gene

Post-translational modifications for OR13H1 Gene

  • Glycosylation at Asn5
  • Modification sites at PhosphoSitePlus

Other Protein References for OR13H1 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR13H1 Gene

Domains & Families for OR13H1 Gene

Gene Families for OR13H1 Gene

HGNC:
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for OR13H1 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR13H1 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor ORX-1 (O13H1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NG92

UniProtKB/Swiss-Prot:

O13H1_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with OR13H1: view

Function for OR13H1 Gene

Molecular function for OR13H1 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR13H1 Gene

Gene Ontology (GO) - Molecular Function for OR13H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity IEA --
genes like me logo Genes that share ontologies with OR13H1: view

Phenotypes for OR13H1 Gene

genes like me logo Genes that share phenotypes with OR13H1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR13H1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR13H1 Gene

Localization for OR13H1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR13H1 Gene

Cell membrane. Multi-pass membrane protein.

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 OR13H1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for OR13H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OR13H1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR13H1 Gene

Pathways & Interactions for OR13H1 Gene

genes like me logo Genes that share pathways with OR13H1: view

Pathways by source for OR13H1 Gene

Interacting Proteins for OR13H1 Gene

Gene Ontology (GO) - Biological Process for OR13H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0007608 sensory perception of smell IEA --
GO:0050896 response to stimulus IEA --
GO:0050911 detection of chemical stimulus involved in sensory perception of smell IEA --
genes like me logo Genes that share ontologies with OR13H1: view

No data available for SIGNOR curated interactions for OR13H1 Gene

Drugs & Compounds for OR13H1 Gene

No Compound Related Data Available

Transcripts for OR13H1 Gene

mRNA/cDNA for OR13H1 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 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 OR13H1

Alternative Splicing Database (ASD) splice patterns (SP) for OR13H1 Gene

No ASD Table

Relevant External Links for OR13H1 Gene

GeneLoc Exon Structure for
OR13H1

Expression for OR13H1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR13H1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR13H1

SOURCE GeneReport for Unigene cluster for OR13H1 Gene:

Hs.553711
genes like me logo Genes that share expression patterns with OR13H1: 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 differential expression in normal tissues , Protein expression , 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 OR13H1 Gene

Orthologs for OR13H1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OR13H1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC473783 29
  • 98.7 (n)
OR13H1 30
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia OR13H1 29 30
  • 86.04 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OR13H1 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 49 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 49 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Olfr1325 30
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100492027 29
  • 54.79 (n)
Species where no ortholog for OR13H1 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)
  • Lizard (Anolis carolinensis)
  • 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for OR13H1 Gene

ENSEMBL:
Gene Tree for OR13H1 (if available)
TreeFam:
Gene Tree for OR13H1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR13H1: view image
Alliance of Genome Resources:
Additional Orthologs for OR13H1

Paralogs for OR13H1 Gene

(447) SIMAP similar genes for OR13H1 Gene using alignment to 1 proteins:

  • O13H1_HUMAN

Pseudogenes.org Pseudogenes for OR13H1 Gene

genes like me logo Genes that share paralogs with OR13H1: view

Variants for OR13H1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR13H1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs142839385 Likely Benign: not provided 131,544,150(+) C/T
NM_001004486.1(OR13H1):c.77C>T (p.Thr26Met)
MISSENSE
rs181957486 Benign: not provided 131,544,249(+) T/A
NM_001004486.1(OR13H1):c.176T>A (p.Ile59Asn)
MISSENSE
rs57328754 Benign: not provided 131,544,966(+) G/A
NM_001004486.1(OR13H1):c.893G>A (p.Arg298Gln)
MISSENSE
rs61748340 Benign: not provided 131,544,313(+) G/A
NM_001004486.1(OR13H1):c.240G>A (p.Gln80=)
SYNONYMOUS
rs751032350 Likely Benign: not provided 131,544,413(+) C/T
NM_001004486.1(OR13H1):c.340C>T (p.Leu114=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR13H1 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 OR13H1 Gene

Variant ID Type Subtype PubMed ID
nsv528179 CNV gain 19592680

Variation tolerance for OR13H1 Gene

Residual Variation Intolerance Score: 89.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR13H1 Gene

Human Gene Mutation Database (HGMD)
OR13H1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR13H1
Leiden Open Variation Database (LOVD)
OR13H1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR13H1 Gene

Disorders for OR13H1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for OR13H1 Gene - From: COP

Disorder Aliases PubMed IDs
lipoid proteinosis of urbach and wiethe
  • lipoid proteinosis
pathologic nystagmus
  • nystagmus
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OR13H1

genes like me logo Genes that share disorders with OR13H1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR13H1 Gene

Publications for OR13H1 Gene

  1. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  2. The human olfactory receptor gene family. (PMID: 14983052) Malnic B … Buck LB (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4
  3. DEFOG: a practical scheme for deciphering families of genes. (PMID: 12213199) Fuchs T … Shamir R (Genomics 2002) 3 4
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PMID: 17903300) Fox CS … Atwood LD (BMC medical genetics 2007) 40

Products for OR13H1 Gene

Sources for OR13H1 Gene