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

Gene ID: 79081, updated on 1-Jun-2020

Summary

Official Symbol
LBHD1provided by HGNC
Official Full Name
LBH domain containing 1provided by HGNC
Primary source
HGNC:HGNC:28351
See related
Ensembl:ENSG00000162194
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

Genomic context

See LBHD1 in Genome Data Viewer
Location:
11q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (62662817..62671783, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62430289..62439241, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glucosidase II alpha subunit Neighboring gene integrator complex subunit 5 Neighboring gene chromosome 11 open reading frame 98 Neighboring gene small nucleolar RNA, H/ACA box 57 Neighboring gene citrate synthase lysine methyltransferase Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 3 Neighboring gene UBX domain protein 1 Neighboring gene LRRN4 C-terminal like

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: INTS5

Homology

Clone Names

  • MGC2477

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
LBH domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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_001367940.1NP_001354869.1  LBH domain-containing protein 1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AP001458
    Related
    ENSP00000416856.2, ENST00000431002.6
  2. NM_001367941.1NP_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 and 3 both encode the same isoform (b).
    Source sequence(s)
    AP001458
    Related
    ENSP00000436848.1, ENST00000532208.5
  3. NM_024099.3NP_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 and 3 both encode the same isoform (b).
    Source sequence(s)
    BC001434
    Consensus CDS
    CCDS8028.1
    UniProtKB/Swiss-Prot
    Q9BQE6
    UniProtKB/TrEMBL
    A0A024R584
    Related
    ENSP00000346600.3, ENST00000354588.7
    Conserved Domains (1) summary
    pfam15317
    Location:1101
    Lbh; Cardiac transcription factor regulator, Developmental protein

RNA

  1. NR_160410.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has the potential to encode an isoform with an alternate N-terminus compared to isoform a. However, this N-terminus is unsupported, and since there is no downstream in-frame AUG, this variant is being represented as non-protein coding.
    Source sequence(s)
    AP001458

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    62662817..62671783 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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