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    C12orf54 chromosome 12 open reading frame 54 [ Homo sapiens (human) ]

    Gene ID: 121273, updated on 17-Sep-2024

    Summary

    Official Symbol
    C12orf54provided by HGNC
    Official Full Name
    chromosome 12 open reading frame 54provided by HGNC
    Primary source
    HGNC:HGNC:28553
    See related
    Ensembl:ENSG00000177627 AllianceGenome:HGNC:28553
    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
    HSD-29; HSD-30
    Expression
    Restricted expression toward testis (RPKM 8.9) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See C12orf54 in Genome Data Viewer
    Location:
    12q13.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (48413154..48496524)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (48374469..48458370)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48876281..48890307)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 5 subfamily BT member 1 pseudogene Neighboring gene olfactory receptor family 5 subfamily BJ member 1 pseudogene Neighboring gene olfactory receptor family 8 subfamily S member 21 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr12:48840985-48841189 Neighboring gene olfactory receptor family 8 subfamily T member 1 pseudogene Neighboring gene acidic nuclear phosphoprotein 32 family member D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6284 Neighboring gene ribosomal protein S10 pseudogene 20 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:48893480-48894134 Neighboring gene MPRA-validated peak1721 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4408 Neighboring gene olfactory receptor family 8 subfamily S member 1 Neighboring gene olfactory receptor family 5 subfamily BS member 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    General protein information

    Preferred Names
    uncharacterized protein C12orf54

    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_152319.4NP_689532.1  uncharacterized protein C12orf54

      See identical proteins and their annotated locations for NP_689532.1

      Status: VALIDATED

      Source sequence(s)
      AC089987, BC031670, BF510008, BQ429029
      Consensus CDS
      CCDS8764.1
      UniProtKB/Swiss-Prot
      Q6X4S9, Q6X4T0, Q8N5S2
      Related
      ENSP00000447109.1, ENST00000548364.7
      Conserved Domains (1) summary
      pfam15732
      Location:1127
      DUF4681; Domain of unknown function (DUF4681)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      48413154..48496524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018796.2XP_016874285.1  uncharacterized protein C12orf54 isoform X1

    2. XM_011537896.3XP_011536198.1  uncharacterized protein C12orf54 isoform X2

      See identical proteins and their annotated locations for XP_011536198.1

      Conserved Domains (1) summary
      pfam15732
      Location:199
      DUF4681; Domain of unknown function (DUF4681)
    3. XM_005268636.4XP_005268693.1  uncharacterized protein C12orf54 isoform X2

      See identical proteins and their annotated locations for XP_005268693.1

      Conserved Domains (1) summary
      pfam15732
      Location:199
      DUF4681; Domain of unknown function (DUF4681)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      48374469..48458370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371069.1XP_054227044.1  uncharacterized protein C12orf54 isoform X1

    2. XM_054371070.1XP_054227045.1  uncharacterized protein C12orf54 isoform X2

    3. XM_054371071.1XP_054227046.1  uncharacterized protein C12orf54 isoform X2