This gene shares three exons in common with another gene, chromosome 11 open reading frame 98 (GeneID:102288414), but the encoded protein uses a reading frame that is different from that of the chromosome 11 open reading frame 98 gene. [provided by RefSeq, Nov 2017] See more...

Aliases for LBHD1 Gene

Aliases for LBHD1 Gene

  • LBH Domain Containing 1 2 3 5
  • LBH Domain-Containing Protein 1 3 4
  • C11orf48 3 4
  • Chromosome 11 Open Reading Frame 48 2
  • MGC2477 2
  • LBHD1 5

External Ids for LBHD1 Gene

Previous HGNC Symbols for LBHD1 Gene

  • C11orf48

Previous GeneCards Identifiers for LBHD1 Gene

  • GC11M062679
  • GC11M062701
  • GC11M062948
  • GC11M062978
  • GC11M063013
  • GC11M063077
  • GC11M062723
  • GC11M062735
  • GC11M062747
  • GC11M062767
  • GC11M062777
  • GC11M062801
  • GC11M062820
  • GC11M062838
  • GC11M063438

Summaries for LBHD1 Gene

Entrez Gene Summary for LBHD1 Gene

  • This gene shares three exons in common with another gene, chromosome 11 open reading frame 98 (GeneID:102288414), but the encoded protein uses a reading frame that is different from that of the chromosome 11 open reading frame 98 gene. [provided by RefSeq, Nov 2017]

GeneCards Summary for LBHD1 Gene

LBHD1 (LBH Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is LBH.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LBHD1 Gene

Genomics for LBHD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LBHD1 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 LBHD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LBHD1

Genomic Locations for LBHD1 Gene

Latest Assembly
chr11:62,662,817-62,672,255
(GRCh38/hg38)
Size:
9,439 bases
Orientation:
Minus strand

Previous Assembly
chr11:62,430,289-62,439,255
(GRCh37/hg19 by Entrez Gene)
Size:
8,967 bases
Orientation:
Minus strand

chr11:62,430,287-62,439,727
(GRCh37/hg19 by Ensembl)
Size:
9,441 bases
Orientation:
Minus strand

Genomic View for LBHD1 Gene

Genes around LBHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LBHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LBHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LBHD1 Gene

Proteins for LBHD1 Gene

  • Protein details for LBHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQE6-LBHD1_HUMAN
    Recommended name:
    LBH domain-containing protein 1
    Protein Accession:
    Q9BQE6
    Secondary Accessions:
    • Q96NA4

    Protein attributes for LBHD1 Gene

    Size:
    289 amino acids
    Molecular mass:
    31565 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LBHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LBHD1 Gene

Post-translational modifications for LBHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LBHD1 Gene

Domains & Families for LBHD1 Gene

Gene Families for LBHD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LBHD1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with LBHD1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LBHD1 Gene

Function for LBHD1 Gene

Phenotypes From GWAS Catalog for LBHD1 Gene

Gene Ontology (GO) - Molecular Function for LBHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with LBHD1: view
genes like me logo Genes that share phenotypes with LBHD1: view

miRNA for LBHD1 Gene

miRTarBase miRNAs that target LBHD1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LBHD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LBHD1 Gene

Localization for LBHD1 Gene

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for LBHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with LBHD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for LBHD1 Gene

Pathways & Interactions for LBHD1 Gene

PathCards logo

SuperPathways for LBHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LBHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045893 positive regulation of transcription, DNA-templated IBA 21873635
genes like me logo Genes that share ontologies with LBHD1: view

No data available for Pathways by source and SIGNOR curated interactions for LBHD1 Gene

Drugs & Compounds for LBHD1 Gene

No Compound Related Data Available

Transcripts for LBHD1 Gene

mRNA/cDNA for LBHD1 Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
10 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 LBHD1

Alternative Splicing Database (ASD) splice patterns (SP) for LBHD1 Gene

No ASD Table

Relevant External Links for LBHD1 Gene

GeneLoc Exon Structure for
LBHD1

Expression for LBHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Colon (Gastrointestinal Tract)
  • Stomach (Gastrointestinal Tract)

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LBHD1

mRNA Expression by UniProt/SwissProt for LBHD1 Gene:

Q9BQE6-LBHD1_HUMAN
Tissue specificity: Expressed in bladder cancer tissues (at protein level).
genes like me logo Genes that share expression patterns with LBHD1: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LBHD1 Gene

Orthologs for LBHD1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for LBHD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C11H11orf48 30
  • 98.86 (n)
Dog
(Canis familiaris)
Mammalia C18H11orf48 30
  • 84.36 (n)
Mouse
(Mus musculus)
Mammalia LOC102308570 30
  • 78.21 (n)
Gm21743 31
  • 61 (a)
OneToOne
Lbhd1 17
Rat
(Rattus norvegicus)
Mammalia LOC102552120 30
  • 70.6 (n)
Species where no ortholog for LBHD1 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)
  • Cow (Bos Taurus)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for LBHD1 Gene

ENSEMBL:
Gene Tree for LBHD1 (if available)
TreeFam:
Gene Tree for LBHD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LBHD1: view image

Paralogs for LBHD1 Gene

Paralogs for LBHD1 Gene

Pseudogenes.org Pseudogenes for LBHD1 Gene

genes like me logo Genes that share paralogs with LBHD1: view

Variants for LBHD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LBHD1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs372150390 Benign: not provided 62,666,509(-) C/T
NM_001043229.2(CSKMT):c.181C>T (p.Gln61Ter)
NONSENSE,INTRON
rs693698 Benign: not provided 62,671,347(-) G/T
NM_024099.4(LBHD1):c.-11+217C>A
FIVE_PRIME_UTR_VARIANT,INTRON
rs776099710 Likely Benign: not specified 62,671,705(-) G/C
NM_001085372.3(UQCC3):c.-41G>C
NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LBHD1 Gene

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

Additional Variant Information for LBHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LBHD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for LBHD1 Gene

Disorders for LBHD1 Gene

Additional Disease Information for LBHD1

No disorders were found for LBHD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LBHD1 Gene

Publications for LBHD1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D. (PMID: 31980649) Kennedy SA … Kolch W (Nature communications 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for LBHD1 Gene

Sources for LBHD1 Gene