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    GOLGA8H golgin A8 family member H [ Homo sapiens (human) ]

    Gene ID: 728498, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GOLGA8Hprovided by HGNC
    Official Full Name
    golgin A8 family member Hprovided by HGNC
    Primary source
    HGNC:HGNC:37443
    See related
    Ensembl:ENSG00000261794 AllianceGenome:HGNC:37443
    Gene type
    protein coding
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GOLGA6L11
    Summary
    Predicted to be involved in Golgi organization. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi cis cisterna; Golgi cisterna membrane; and cis-Golgi network. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thyroid (RPKM 12.2), testis (RPKM 12.1) and 25 other tissues See more
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    Genomic context

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    See GOLGA8H in Genome Data Viewer
    Location:
    15q13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (30604028..30617752)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (28397225..28410934)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (30896231..30909955)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene 15q13.2-13.3 gamma inversion proximal recombination region Neighboring gene U8 small nucleolar RNA Neighboring gene dynamin 1 pseudogene 50 Neighboring gene ARHGAP11B divergent transcript Neighboring gene ULK4 pseudogene 2 Neighboring gene 15q13 proximal microdeletion recombination region Neighboring gene RNA, 7SL, cytoplasmic 628, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:30917238-30918231 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:30918882-30919057 Neighboring gene Rho GTPase activating protein 11B Neighboring gene OTU deubiquitinase 7A pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:30988059-30988666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:30988667-30989274 Neighboring gene proximal CHRNA7 low-copy repeat recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31000717-31001312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31001313-31001908 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:31066043-31066308 Neighboring gene putative golgin subfamily A member 8I Neighboring gene RNA, 7SL, cytoplasmic 82, pseudogene

    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. A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. Speed D, et al. Hum Mol Genet, 2014 Jan 1. PMID 23962720, Free PMC Article
    2. Analysis of the DNA sequence and duplication history of human chromosome 15. Zody MC, et al. Nature, 2006 Mar 30. PMID 16572171
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi cis cisterna IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in Golgi cisterna membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cis-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    golgin subfamily A member 8H
    Names
    Golgin subfamily A member 8-like protein 1
    golgi autoantigen, golgin subfamily a, 6-like 11

    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_001282490.2 → NP_001269419.1  golgin subfamily A member 8H

      See identical proteins and their annotated locations for NP_001269419.1

      Status: INFERRED

      Source sequence(s)
      AC026150, AC091057
      Consensus CDS
      CCDS61576.1
      UniProtKB/Swiss-Prot
      A6NC78, P0CJ92
      Related
      ENSP00000456894.1, ENST00000566740.2
      Conserved Domains (2) summary
      pfam15070
      Location:226 → 621
      GOLGA2L5; Putative golgin subfamily A member 2-like protein 5
      cl19219
      Location:175 → 291
      DUF342; Protein of unknown function (DUF342)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      30604028..30617752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

      Range
      2776519..2790241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_012132920.1 Reference GRCh38.p14 PATCHES

      Range
      1910812..1922031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2888971..2902693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      28397225..28410934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CJ92.1 GenPept UniProtKB/Swiss-Prot:P0CJ92

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials