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    C1orf54 chromosome 1 open reading frame 54 [ Homo sapiens (human) ]

    Gene ID: 79630, updated on 9-Dec-2024

    Summary

    Official Symbol
    C1orf54provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 54provided by HGNC
    Primary source
    HGNC:HGNC:26258
    See related
    Ensembl:ENSG00000118292 AllianceGenome:HGNC:26258
    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
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 18.0), lymph node (RPKM 10.9) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See C1orf54 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150268731..150280924)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149393648..149405849)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150244687..150253335)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150208844-150209411 Neighboring gene RNA, U2 small nuclear 17, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150228359-150229053 Neighboring gene carbonic anhydrase 14 Neighboring gene small nucleolar RNA, C/D box 13C Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:150241516-150242127 Neighboring gene uncharacterized LOC124904414 Neighboring gene aph-1 homolog A, gamma-secretase subunit Neighboring gene Sharpr-MPRA regulatory region 3157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1679 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:150254031-150255230 Neighboring gene circadian associated repressor of transcription Neighboring gene uncharacterized LOC105371434

    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
    uncharacterized protein C1orf54

    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_001301039.1NP_001287968.1  uncharacterized protein C1orf54 isoform a precursor

      See identical proteins and their annotated locations for NP_001287968.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC242988
      Conserved Domains (1) summary
      pfam15465
      Location:1130
      DUF4634; Domain of unknown function (DUF4634)
    2. NM_001301040.1NP_001287969.1  uncharacterized protein C1orf54 isoform b precursor

      See identical proteins and their annotated locations for NP_001287969.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AC242988
      Consensus CDS
      CCDS948.1
      UniProtKB/Swiss-Prot
      Q8WWF1, Q9H5P3
      Conserved Domains (1) summary
      pfam15465
      Location:1129
      DUF4634; Domain of unknown function (DUF4634)
    3. NM_001301041.1NP_001287970.1  uncharacterized protein C1orf54 isoform c precursor

      See identical proteins and their annotated locations for NP_001287970.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AI004135, DA358536, W93038
      Conserved Domains (1) summary
      pfam15465
      Location:1102
      DUF4634; Domain of unknown function (DUF4634)
    4. NM_001301042.1NP_001287971.1  uncharacterized protein C1orf54 isoform d precursor

      See identical proteins and their annotated locations for NP_001287971.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AA095731, AI004135, AI342055, T82829
      Consensus CDS
      CCDS72905.1
      UniProtKB/TrEMBL
      Q5TB16
      Related
      ENSP00000358094.3, ENST00000369098.3
      Conserved Domains (1) summary
      pfam15465
      Location:1100
      DUF4634; Domain of unknown function (DUF4634)
    5. NM_024579.4NP_078855.2  uncharacterized protein C1orf54 isoform b precursor

      See identical proteins and their annotated locations for NP_078855.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AI004135, AI342055, AK026874, BC017761
      Consensus CDS
      CCDS948.1
      UniProtKB/Swiss-Prot
      Q8WWF1, Q9H5P3
      Related
      ENSP00000358095.3, ENST00000369099.8
      Conserved Domains (1) summary
      pfam15465
      Location:1129
      DUF4634; Domain of unknown function (DUF4634)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      150268731..150280924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430446.1XP_047286402.1  uncharacterized protein C1orf54 isoform X1

    2. XM_047430455.1XP_047286411.1  uncharacterized protein C1orf54 isoform X2

      UniProtKB/Swiss-Prot
      Q8WWF1, Q9H5P3
      Related
      ENSP00000358098.1, ENST00000369102.5
    3. XM_047430461.1XP_047286417.1  uncharacterized protein C1orf54 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      149393648..149405849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338735.1XP_054194710.1  uncharacterized protein C1orf54 isoform X1

    2. XM_054338736.1XP_054194711.1  uncharacterized protein C1orf54 isoform X2

      UniProtKB/Swiss-Prot
      Q8WWF1, Q9H5P3
    3. XM_054338737.1XP_054194712.1  uncharacterized protein C1orf54 isoform X3