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LBHD1 LBH domain containing 1 [ Homo sapiens (human) ]

Gene ID: 79081, updated on 16-Mar-2024

Summary

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Official Symbol
LBHD1provided by HGNC
Official Full Name
LBH domain containing 1provided by HGNC
Primary source
HGNC:HGNC:28351
See related
Ensembl:ENSG00000162194 AllianceGenome:HGNC:28351
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C11orf48
Summary
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]
Expression
Ubiquitous expression in lymph node (RPKM 15.1), appendix (RPKM 14.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q12.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62662817..62672267, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62652235..62661685, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62430289..62439739, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:62391987-62392312 Neighboring gene glucosidase II alpha subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62412284-62413091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:62420185-62420944 Neighboring gene integrator complex subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4834 Neighboring gene chromosome 11 open reading frame 98 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4837 Neighboring gene small nucleolar RNA, H/ACA box 57 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62437829-62438570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62438571-62439310 Neighboring gene citrate synthase lysine methyltransferase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62439311-62440052 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4839 Neighboring gene UBX domain protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62455030-62455530 Neighboring gene LRRN4 C-terminal like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Diversity of translation start sites may define increased complexity of the human short ORFeome. Oyama M, et al. Mol Cell Proteomics, 2007 Jun. PMID 17317662
  2. Observation of dually decoded regions of the human genome using ribosome profiling data. Michel AM, et al. Genome Res, 2012 Nov. PMID 22593554, Free PMC Article
  3. Mammalian small nucleolar RNAs are mobile genetic elements. Weber MJ. PLoS Genet, 2006 Dec 8. PMID 17154719, Free PMC Article
  4. HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib Resistance by Suppressing Trim71-dependent RAF1 Degradation. Yuan J, et al. Cell Mol Gastroenterol Hepatol, 2023. PMID 36244648, Free PMC Article
  5. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRAS(G13D). Kennedy SA, et al. Nat Commun, 2020 Jan 24. PMID 31980649, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: INTS5

Homology

Clone Names

  • MGC2477

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
LBH domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001367940.2 → NP_001354869.1  LBH domain-containing protein 1 isoform a

    Status: VALIDATED

    Source sequence(s)
    AP001458
    Consensus CDS
    CCDS91492.1
    UniProtKB/Swiss-Prot
    Q96NA4, Q9BQE6
    Related
    ENSP00000416856.2, ENST00000431002.6

  2. NM_001367941.2 → NP_001354870.1  LBH domain-containing protein 1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame segment and differs in the 5' UTR compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2, 3, and 8-10 all encode the same isoform (b).
    Source sequence(s)
    AP001458
    Consensus CDS
    CCDS8028.1
    Conserved Domains (1) summary
    pfam15317
    Location:1 → 102
    Lbh; Cardiac transcription factor regulator, Developmental protein

  3. NM_001394596.1 → NP_001381525.1  LBH domain-containing protein 1 isoform c

    Status: VALIDATED

    Source sequence(s)
    AP001458
    UniProtKB/TrEMBL
    E9PMK4
    Related
    ENSP00000410979.3, ENST00000415855.6
    Conserved Domains (1) summary
    pfam15317
    Location:71 → 158
    Lbh; Cardiac transcription factor regulator, Developmental protein

  4. NM_001394599.1 → NP_001381528.1  LBH domain-containing protein 1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AP001458

  5. NM_001394601.1 → NP_001381530.1  LBH domain-containing protein 1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AP001458

  6. NM_001394604.1 → NP_001381533.1  LBH domain-containing protein 1 isoform f

    Status: VALIDATED

    Source sequence(s)
    AP001458

  7. NM_001394606.1 → NP_001381535.1  LBH domain-containing protein 1 isoform g

    Status: VALIDATED

    Source sequence(s)
    AP001458

  8. NM_001394607.1 → NP_001381536.1  LBH domain-containing protein 1 isoform h

    Status: VALIDATED

    Source sequence(s)
    AP001458

  9. NM_001394609.1 → NP_001381538.1  LBH domain-containing protein 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AP001458
    Consensus CDS
    CCDS8028.1
    Conserved Domains (1) summary
    pfam15317
    Location:1 → 102
    Lbh; Cardiac transcription factor regulator, Developmental protein

  10. NM_001394611.1 → NP_001381540.1  LBH domain-containing protein 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AP001458
    Consensus CDS
    CCDS8028.1
    Conserved Domains (1) summary
    pfam15317
    Location:1 → 102
    Lbh; Cardiac transcription factor regulator, Developmental protein

  11. NM_001394612.1 → NP_001381541.1  LBH domain-containing protein 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AP001458
    Consensus CDS
    CCDS8028.1
    Related
    ENSP00000436848.1, ENST00000532208.5
    Conserved Domains (1) summary
    pfam15317
    Location:1 → 102
    Lbh; Cardiac transcription factor regulator, Developmental protein

  12. NM_024099.5 → NP_077004.2  LBH domain-containing protein 1 isoform b

    See identical proteins and their annotated locations for NP_077004.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2, 3, and 8-10 all encode the same isoform (b).
    Source sequence(s)
    AP001458
    Consensus CDS
    CCDS8028.1
    Related
    ENSP00000346600.3, ENST00000354588.8
    Conserved Domains (1) summary
    pfam15317
    Location:1 → 102
    Lbh; Cardiac transcription factor regulator, Developmental protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    62662817..62672267 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    62652235..62661685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BQE6.3 GenPept UniProtKB/Swiss-Prot:Q9BQE6

Gene LinkOut

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