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

Gene ID: 4062, updated on 5-Mar-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143157916..143160654, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144302246..144304984, complement)
105.20220307 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
  • 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. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article

See all (11) 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_2023_10

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

Gene LinkOut

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