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    C19orf54 chromosome 19 open reading frame 54 [ Homo sapiens (human) ]

    Gene ID: 284325, updated on 17-Jun-2019

    Summary

    Official Symbol
    C19orf54provided by HGNC
    Official Full Name
    chromosome 19 open reading frame 54provided by HGNC
    Primary source
    HGNC:HGNC:24758
    See related
    Ensembl:ENSG00000188493
    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
    Expression
    Ubiquitous expression in small intestine (RPKM 5.1), duodenum (RPKM 5.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See C19orf54 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (40740856..40751372, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41246761..41256533, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NUMB like endocytic adaptor protein Neighboring gene Sharpr-MPRA regulatory region 4590 Neighboring gene coenzyme Q8B Neighboring gene RNA, U6 small nuclear 195, pseudogene Neighboring gene inositol-trisphosphate 3-kinase C Neighboring gene small nuclear ribonucleoprotein polypeptide A Neighboring gene RAB4B-EGLN2 readthrough (NMD candidate) Neighboring gene MIA-RAB4B readthrough (NMD candidate) Neighboring gene RAB4B, member RAS oncogene family Neighboring gene MIA SH3 domain containing

    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 gene information

    Markers

    Homology

    Clone Names

    • FLJ17063, FLJ41131, MGC103014

    NCBI Reference Sequences (RefSeq)

    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_001353805.2NP_001340734.1  UPF0692 protein C19orf54 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC020945, BC090894, DC399549
    2. NM_001353806.2NP_001340735.1  UPF0692 protein C19orf54 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC020945
    3. NM_001353807.2NP_001340736.1  UPF0692 protein C19orf54 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC020945
    4. NM_001353808.2NP_001340737.1  UPF0692 protein C19orf54 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC020945
    5. NM_001353809.2NP_001340738.1  UPF0692 protein C19orf54 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC020945
    6. NM_198476.5NP_940878.3  UPF0692 protein C19orf54 isoform 1

      See identical proteins and their annotated locations for NP_940878.3

      Status: VALIDATED

      Source sequence(s)
      AC020945, AI250667, BC020262, DA073426
      Consensus CDS
      CCDS12564.2
      UniProtKB/Swiss-Prot
      Q5BKX5
      Related
      ENSP00000367564.2, ENST00000378313.7

    RNA

    1. NR_148548.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AI250667, AK123126, DC399549
      Related
      ENST00000469741.6
    2. NR_148549.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC020945
      Related
      ENST00000470681.5
    3. NR_148550.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC020945
    4. NR_148551.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC020945

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      40740856..40751372 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526774.3XP_011525076.1  UPF0692 protein C19orf54 isoform X1

      See identical proteins and their annotated locations for XP_011525076.1

    2. XM_011526785.3XP_011525087.1  UPF0692 protein C19orf54 isoform X11

    3. XM_011526784.3XP_011525086.1  UPF0692 protein C19orf54 isoform X8

    4. XM_017026623.2XP_016882112.1  UPF0692 protein C19orf54 isoform X10

    5. XM_011526783.3XP_011525085.1  UPF0692 protein C19orf54 isoform X7

    6. XM_017026622.2XP_016882111.1  UPF0692 protein C19orf54 isoform X9

    7. XM_011526778.3XP_011525080.1  UPF0692 protein C19orf54 isoform X3

    8. XM_017026620.2XP_016882109.1  UPF0692 protein C19orf54 isoform X2

    9. XM_011526776.3XP_011525078.1  UPF0692 protein C19orf54 isoform X2

    10. XM_005258776.5XP_005258833.1  UPF0692 protein C19orf54 isoform X5

      See identical proteins and their annotated locations for XP_005258833.1

    11. XM_011526779.3XP_011525081.1  UPF0692 protein C19orf54 isoform X4

    12. XM_011526775.2XP_011525077.1  UPF0692 protein C19orf54 isoform X1

      See identical proteins and their annotated locations for XP_011525077.1

    13. XM_006723153.3XP_006723216.1  UPF0692 protein C19orf54 isoform X5

      See identical proteins and their annotated locations for XP_006723216.1

    14. XM_011526782.3XP_011525084.1  UPF0692 protein C19orf54 isoform X6

    15. XM_017026625.2XP_016882114.1  UPF0692 protein C19orf54 isoform X13

    16. XM_011526786.3XP_011525088.1  UPF0692 protein C19orf54 isoform X12

    17. XM_006723152.3XP_006723215.1  UPF0692 protein C19orf54 isoform X5

      See identical proteins and their annotated locations for XP_006723215.1

    RNA

    1. XR_001753666.2 RNA Sequence

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