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    LY6H lymphocyte antigen 6 family member H [ Homo sapiens (human) ]

    Gene ID: 4062, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LY6Hprovided by HGNC
    Official Full Name
    lymphocyte antigen 6 family member Hprovided by HGNC
    Primary source
    HGNC:HGNC:6728
    See related
    Ensembl:ENSG00000176956 MIM:603625; AllianceGenome:HGNC:6728
    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
    NMLY6
    Summary
    Predicted to enable acetylcholine receptor binding activity and acetylcholine receptor inhibitor activity. Predicted to be involved in acetylcholine receptor signaling pathway. Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 15.6), stomach (RPKM 1.2) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See LY6H in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143157916..143160654, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144302246..144304984, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144239333..144242071, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene lymphocyte antigen 6 family member S Neighboring gene ribosomal protein S26 pseudogene 36 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144175908-144176436 Neighboring gene lymphocyte antigen 6 family member L Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144197383-144198380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144198381-144199378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144208311-144208870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144221912-144222650 Neighboring gene uncharacterized LOC124902035 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:144255595-144255766 Neighboring gene uncharacterized LOC107986906 Neighboring gene Sharpr-MPRA regulatory region 5782 Neighboring gene glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

    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. Isolation and characterization of a new member of the human Ly6 gene family (LY6H). Horie M, et al. Genomics, 1998 Nov 1. PMID 9799603
    2. Unbalanced Regulation of α7 nAChRs by Ly6h and NACHO Contributes to Neurotoxicity in Alzheimer's Disease. Wu M, et al. J Neurosci, 2021 Oct 13. PMID 34446574, Free PMC Article
    3. Isolation of a murine Ly-6 cDNA reveals a new multigene family. LeClair KP, et al. EMBO J, 1986 Dec 1. PMID 3028776, Free PMC Article
    4. Identification of orphan ligand-receptor relationships using a cell-based CRISPRa enrichment screening platform. Siepe DH, et al. Elife, 2022 Sep 30. PMID 36178190, Free PMC Article
    5. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unbalanced Regulation of alpha7 nAChRs by Ly6h and NACHO Contributes to Neurotoxicity in Alzheimer's Disease.
      Title: Unbalanced Regulation of α7 nAChRs by Ly6h and NACHO Contributes to Neurotoxicity in Alzheimer's Disease.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylcholine receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acetylcholine receptor inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acetylcholine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    lymphocyte antigen 6H
    Names
    ly-6H
    lymphocyte antigen 6 complex, locus H

    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_001130478.2 → NP_001123950.1  lymphocyte antigen 6H isoform b precursor

      See identical proteins and their annotated locations for NP_001123950.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (b) that is longer at the N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC083982, AK314139, BC030192
      Consensus CDS
      CCDS47926.1
      UniProtKB/Swiss-Prot
      O94772
      Related
      ENSP00000399485.2, ENST00000414417.6
      Conserved Domains (1) summary
      pfam00021
      Location:49 → 132
      UPAR_LY6; u-PAR/Ly-6 domain

    2. NM_001135655.2 → NP_001129127.1  lymphocyte antigen 6H isoform b precursor

      See identical proteins and their annotated locations for NP_001129127.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (b) that is longer at the N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      BC030192, DB502453
      Consensus CDS
      CCDS47926.1
      UniProtKB/Swiss-Prot
      O94772
      Related
      ENSP00000342711.4, ENST00000342752.9
      Conserved Domains (1) summary
      pfam00021
      Location:49 → 132
      UPAR_LY6; u-PAR/Ly-6 domain

    3. NM_002347.5 → NP_002338.3  lymphocyte antigen 6H isoform a precursor

      See identical proteins and their annotated locations for NP_002338.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shorter isoform (a).
      Source sequence(s)
      BC030192, BP347868, DB471677
      Consensus CDS
      CCDS6396.1
      UniProtKB/Swiss-Prot
      B2RAD2, J3KQI0, O94772, Q6IAX0
      Related
      ENSP00000409899.2, ENST00000430474.6
      Conserved Domains (1) summary
      pfam00021
      Location:28 → 111
      UPAR_LY6; u-PAR/Ly-6 domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      143157916..143160654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421782.1 → XP_047277738.1  lymphocyte antigen 6H isoform X2

      UniProtKB/Swiss-Prot
      B2RAD2, J3KQI0, O94772, Q6IAX0
      Related
      ENSP00000480084.1, ENST00000615409.1

    2. XM_017013413.2 → XP_016868902.1  lymphocyte antigen 6H isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187573.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      153501..156239 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328785.1 → XP_054184760.1  lymphocyte antigen 6H isoform X2

      UniProtKB/Swiss-Prot
      B2RAD2, J3KQI0, O94772, Q6IAX0

    2. XM_054328784.1 → XP_054184759.1  lymphocyte antigen 6H isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      144302246..144304984 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360476.1 → XP_054216451.1  lymphocyte antigen 6H isoform X2

      UniProtKB/Swiss-Prot
      B2RAD2, J3KQI0, O94772, Q6IAX0

    2. XM_054360475.1 → XP_054216450.1  lymphocyte antigen 6H isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94772.1 GenPept UniProtKB/Swiss-Prot:O94772

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