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

Gene ID: 728498, updated on 23-Nov-2023

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 active in Golgi cis cisterna; Golgi cisterna membrane; and cis-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
15q13.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (30604028..30617752)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (28397225..28410934)
105.20220307 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
  • 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
    P0CJ92
    UniProtKB/TrEMBL
    A0A1B0GVY7
    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_2023_10

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

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Chemical Information
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