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

External Ids for LBHD1 Gene

Previous HGNC Symbols for LBHD1 Gene

  • C11orf48

Previous GeneCards Identifiers for LBHD1 Gene

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

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. Diseases associated with LBHD1 include Mitochondrial Complex Iii Deficiency, Nuclear Type 9 and Mitochondrial Complex Iii Deficiency. An important paralog of this gene is LBH.

Additional gene information for LBHD1 Gene

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 for LBHD1 Gene

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 UCSC Golden Path with GeneCards custom track

Genomic Locations for LBHD1 Gene

Genomic Locations for LBHD1 Gene
9,439 bases
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:
    Recommended name:
    LBH domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q96NA4

    Protein attributes for LBHD1 Gene

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

    Alternative splice isoforms for LBHD1 Gene


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

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

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

Animal Model Products

CRISPR Products

miRNA for LBHD1 Gene

miRTarBase miRNAs that target LBHD1

Inhibitory RNA Products

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

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


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

CRISPR Products

Inhibitory RNA Products

  • 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
ECgene alternative splicing isoforms for

Expression for LBHD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LBHD1 Gene:


mRNA Expression by UniProt/SwissProt for LBHD1 Gene:

Tissue specificity: Expressed in bladder cancer tissues (at protein level).

No data available for mRNA expression in normal human tissues , 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 , 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
(Pan troglodytes)
Mammalia C11H11orf48 32
  • 98.86 (n)
(Canis familiaris)
Mammalia C18H11orf48 32
  • 84.36 (n)
(Mus musculus)
Mammalia LOC102308570 32
  • 78.21 (n)
Gm21743 33
  • 61 (a)
Lbhd1 17
(Rattus norvegicus)
Mammalia LOC102552120 32
  • 70.6 (n)
Species where no ortholog for LBHD1 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LBHD1 Gene

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

Paralogs for LBHD1 Gene

Paralogs for LBHD1 Gene Pseudogenes for LBHD1 Gene

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

Variants for LBHD1 Gene

Sequence variations from dbSNP and Humsavar for LBHD1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs143509965 likely-benign, benign, not provided, not specified 62,672,058(-) T/G upstream_transcript_variant
rs606231426 pathogenic, Mitochondrial complex III deficiency, nuclear type 9 62,671,804(-) T/A upstream_transcript_variant
rs1057523079 likely-benign, not specified 62,672,125(-) G/A upstream_transcript_variant
rs776099710 likely-benign, not specified 62,671,705(-) G/A/C/T 5_prime_UTR_variant, non_coding_transcript_variant
rs13941 benign, not specified 62,672,097(-) G/A upstream_transcript_variant

Additional Variant Information for LBHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

MalaCards: The human disease database

(2) MalaCards diseases for LBHD1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 9
  • mc3dn9
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
- elite association - COSMIC cancer census association via MalaCards
Search LBHD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LBHD1

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

No data available for 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 56
  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 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 56
  5. Observation of dually decoded regions of the human genome using ribosome profiling data. (PMID: 22593554) Michel AM … Baranov PV (Genome research 2012) 3 56

Products for LBHD1 Gene

Sources for LBHD1 Gene