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    FAM8A1 family with sequence similarity 8 member A1 [ Homo sapiens (human) ]

    Gene ID: 51439, updated on 27-Nov-2024

    Summary

    Official Symbol
    FAM8A1provided by HGNC
    Official Full Name
    family with sequence similarity 8 member A1provided by HGNC
    Primary source
    HGNC:HGNC:16372
    See related
    Ensembl:ENSG00000137414 MIM:618409; AllianceGenome:HGNC:16372
    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
    AHCP
    Summary
    Predicted to be involved in ERAD pathway. Part of Hrd1p ubiquitin ligase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 21.6), endometrium (RPKM 17.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FAM8A1 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (17600302..17611715)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (17472505..17483894)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (17600533..17611946)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724591 Neighboring gene SUMO2 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:17601938-17602438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:17602439-17602939 Neighboring gene MPRA-validated peak5701 silencer Neighboring gene MPRA-validated peak5703 silencer Neighboring gene RNA, U6 small nuclear 190, pseudogene Neighboring gene nucleoporin 153 Neighboring gene MPRA-validated peak5705 silencer Neighboring gene MPRA-validated peak5706 silencer Neighboring gene Sharpr-MPRA regulatory region 5716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:17685707-17686206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24114 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:17704301-17704470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16965 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:17706574-17707268 Neighboring gene NUP153 antisense RNA 1

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    protein FAM8A1
    Names
    Autosomal Highly Conserved Protein

    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_016255.3NP_057339.1  protein FAM8A1

      See identical proteins and their annotated locations for NP_057339.1

      Status: VALIDATED

      Source sequence(s)
      AF097027, AL138824, BC047881, BQ015864, DA333190
      Consensus CDS
      CCDS4540.1
      UniProtKB/Swiss-Prot
      B2R725, Q9UBU6
      Related
      ENSP00000259963.3, ENST00000259963.4
      Conserved Domains (2) summary
      pfam06271
      Location:244403
      RDD; RDD family
      cl26464
      Location:5233
      Atrophin-1; Atrophin-1 family

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      17600302..17611715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      17472505..17483894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)