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    HGH1 HGH1 homolog [ Homo sapiens (human) ]

    Gene ID: 51236, updated on 7-Apr-2024

    Summary

    Official Symbol
    HGH1provided by HGNC
    Official Full Name
    HGH1 homologprovided by HGNC
    Primary source
    HGNC:HGNC:24161
    See related
    Ensembl:ENSG00000235173 MIM:620684; AllianceGenome:HGNC:24161
    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
    BRP16; BRP16L; FAM203A; FAM203B; C8orf30A; C8orf30B
    Expression
    Ubiquitous expression in testis (RPKM 6.8), thyroid (RPKM 5.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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 (144137774..144140851)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145304495..145307572)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145192677..145195754)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145163585-145164115 Neighboring gene MAF1 homolog, negative regulator of RNA polymerase III Neighboring gene WD repeat domain 97 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19664 Neighboring gene testis specific serine kinase 5, pseudogene Neighboring gene maestro heat like repeat family member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145220181-145220332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145220890-145221390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145222845-145223346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145223347-145223846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145225713-145226214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145233092-145233905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145235445-145236162 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145236968-145237140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145239293-145239836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19665

    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

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with family with sequence similarity 203, member A (FAM203A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ40907

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     

    General protein information

    Preferred Names
    protein HGH1 homolog
    Names
    brain protein 16
    brain protein 16-like
    family with sequence similarity 203, member A
    family with sequence similarity 203, member B
    protein FAM203A
    protein FAM203B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016458.4NP_057542.2  protein HGH1 homolog

      See identical proteins and their annotated locations for NP_057542.2

      Status: VALIDATED

      Source sequence(s)
      AC104592, AW002157, BC003035, BC015471
      Consensus CDS
      CCDS6417.1
      UniProtKB/Swiss-Prot
      P0CB43, Q9BTY7
      Related
      ENSP00000321320.5, ENST00000347708.5
      Conserved Domains (2) summary
      pfam04063
      Location:155287
      DUF383; Domain of unknown function (DUF383)
      pfam04064
      Location:292344
      DUF384; Domain of unknown function (DUF384)

    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
      144137774..144140851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001745537.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145304495..145307572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008487850.1 RNA Sequence