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    C17orf53 chromosome 17 open reading frame 53 [ Homo sapiens (human) ]

    Gene ID: 78995, updated on 8-Apr-2018
    Official Symbol
    C17orf53provided by HGNC
    Official Full Name
    chromosome 17 open reading frame 53provided by HGNC
    Primary source
    HGNC:HGNC:28460
    See related
    Ensembl:ENSG00000125319 Vega:OTTHUMG00000181808
    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
    Broad expression in testis (RPKM 4.5), bone marrow (RPKM 2.8) and 14 other tissues See more
    Orthologs
    Location:
    17q21.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (44141902..44162477)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42219274..42239844)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene histone deacetylase 5 Neighboring gene uncharacterized LOC105371789 Neighboring gene RNA, U6 small nuclear 131, pseudogene Neighboring gene ASB16 antisense RNA 1 Neighboring gene ankyrin repeat and SOCS box containing 16 Neighboring gene transmembrane and ubiquitin like domain containing 2 Neighboring gene ataxin 7 like 3

    • 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 Jun 15 11:32:44 2016

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    NHGRI GWA Catalog
    New sequence variants associated with bone mineral density.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC3130, FLJ11594
    Preferred Names
    uncharacterized protein C17orf53

    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_001171251.2NP_001164722.1  uncharacterized protein C17orf53 isoform 2

      See identical proteins and their annotated locations for NP_001164722.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks one internal amino acid, compared to isoform 1.
      Source sequence(s)
      AK291924, AL834295, HY032119
      Consensus CDS
      CCDS59293.1
      UniProtKB/Swiss-Prot
      Q8N3J3
      Related
      ENSP00000466618.1, OTTHUMP00000267513, ENST00000585683.5, OTTHUMT00000457698
      Conserved Domains (2) summary
      pfam15072
      Location:492575
      DUF4539; Domain of unknown function (DUF4539)
      pfam15671
      Location:274432
      PRR18; Proline-rich protein family 18
    2. NM_001321310.1NP_001308239.1  uncharacterized protein C17orf53 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC004596, AL834295, BC000121, HY032119
      Consensus CDS
      CCDS82136.1
      UniProtKB/Swiss-Prot
      Q8N3J3
      Related
      ENSP00000245382.5, OTTHUMP00000267514, ENST00000245382.6, OTTHUMT00000457699
      Conserved Domains (2) summary
      pfam14857
      Location:236340
      TMEM151; TMEM151 family
      pfam15072
      Location:417500
      DUF4539; Domain of unknown function (DUF4539)
    3. NM_001321311.1NP_001308240.1  uncharacterized protein C17orf53 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC004596, AL834295, HY032119
      UniProtKB/Swiss-Prot
      Q8N3J3
      Conserved Domains (2) summary
      pfam14857
      Location:236340
      TMEM151; TMEM151 family
      pfam15072
      Location:491574
      DUF4539; Domain of unknown function (DUF4539)
    4. NM_024032.4NP_076937.2  uncharacterized protein C17orf53 isoform 1

      See identical proteins and their annotated locations for NP_076937.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL834295, HY032119
      Consensus CDS
      CCDS11477.1
      UniProtKB/Swiss-Prot
      Q8N3J3
      Related
      ENSP00000313500.4, OTTHUMP00000267512, ENST00000319977.8, OTTHUMT00000457697
      Conserved Domains (2) summary
      pfam15072
      Location:493576
      DUF4539; Domain of unknown function (DUF4539)
      pfam15671
      Location:274432
      PRR18; Proline-rich protein family 18

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      44141902..44162477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525192.2XP_011523494.1  uncharacterized protein C17orf53 isoform X6

      Conserved Domains (2) summary
      pfam15072
      Location:493521
      DUF4539; Domain of unknown function (DUF4539)
      pfam15671
      Location:274432
      PRR18; Proline-rich protein family 18
    2. XM_011525195.2XP_011523497.1  uncharacterized protein C17orf53 isoform X9

      Conserved Domains (1) summary
      pfam14857
      Location:236340
      TMEM151; TMEM151 family
    3. XM_011525189.2XP_011523491.1  uncharacterized protein C17orf53 isoform X3

      Conserved Domains (3) summary
      pfam14857
      Location:236340
      TMEM151; TMEM151 family
      pfam15072
      Location:446529
      DUF4539; Domain of unknown function (DUF4539)
      pfam15671
      Location:274432
      PRR18; Proline-rich protein family 18
    4. XM_011525190.2XP_011523492.1  uncharacterized protein C17orf53 isoform X4

      Conserved Domains (2) summary
      pfam15072
      Location:445528
      DUF4539; Domain of unknown function (DUF4539)
      pfam15671
      Location:274439
      PRR18; Proline-rich protein family 18
    5. XM_011525187.2XP_011523489.1  uncharacterized protein C17orf53 isoform X1

      Conserved Domains (2) summary
      pfam14857
      Location:236340
      TMEM151; TMEM151 family
      pfam15072
      Location:492575
      DUF4539; Domain of unknown function (DUF4539)
    6. XM_011525188.2XP_011523490.1  uncharacterized protein C17orf53 isoform X2

      Conserved Domains (2) summary
      pfam14857
      Location:236340
      TMEM151; TMEM151 family
      pfam15072
      Location:465548
      DUF4539; Domain of unknown function (DUF4539)
    7. XM_011525193.2XP_011523495.1  uncharacterized protein C17orf53 isoform X7

      Conserved Domains (2) summary
      pfam14857
      Location:236340
      TMEM151; TMEM151 family
      pfam15072
      Location:417500
      DUF4539; Domain of unknown function (DUF4539)
    8. XM_011525191.3XP_011523493.1  uncharacterized protein C17orf53 isoform X5

      Conserved Domains (2) summary
      pfam15072
      Location:493576
      DUF4539; Domain of unknown function (DUF4539)
      pfam15671
      Location:274432
      PRR18; Proline-rich protein family 18
    9. XM_011525194.2XP_011523496.1  uncharacterized protein C17orf53 isoform X8

      Conserved Domains (2) summary
      pfam14857
      Location:236340
      TMEM151; TMEM151 family
      pfam15072
      Location:493522
      DUF4539; Domain of unknown function (DUF4539)
    10. XM_011525197.2XP_011523499.1  uncharacterized protein C17orf53 isoform X10

      Conserved Domains (1) summary
      pfam15072
      Location:37120
      DUF4539; Domain of unknown function (DUF4539)

    RNA

    1. XR_934545.2 RNA Sequence

    2. XR_002958064.1 RNA Sequence

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