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

    Gene ID: 79081, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See LBHD1 in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62662817..62672267, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62652235..62661685, complement)
    RS_2024_09 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 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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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