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    FAM53C family with sequence similarity 53 member C [ Homo sapiens (human) ]

    Gene ID: 51307, updated on 15-Jun-2019

    Summary

    Official Symbol
    FAM53Cprovided by HGNC
    Official Full Name
    family with sequence similarity 53 member Cprovided by HGNC
    Primary source
    HGNC:HGNC:1336
    See related
    Ensembl:ENSG00000120709 MIM:609372
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C5orf6
    Summary
    The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
    Expression
    Broad expression in bone marrow (RPKM 31.2), testis (RPKM 25.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See FAM53C in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (138337535..138349729)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137673224..137685418)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GDNF family receptor alpha 3 Neighboring gene ribosomal protein S27a pseudogene 18 Neighboring gene cell division cycle 25C Neighboring gene uncharacterized LOC100128966 Neighboring gene lysine demethylase 3B Neighboring gene receptor accessory protein 2

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    protein FAM53C
    Names
    putative nuclear protein

    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.

    Genomic

    1. NG_053107.1 RefSeqGene

      Range
      5025..17219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135647.2NP_001129119.1  protein FAM53C isoform 1

      See identical proteins and their annotated locations for NP_001129119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC104116, BC052993, DB035183
      Consensus CDS
      CCDS4204.1
      UniProtKB/Swiss-Prot
      Q9NYF3
      Related
      ENSP00000403705.2, ENST00000434981.6
      Conserved Domains (1) summary
      pfam15242
      Location:1307
      FAM53; Family of FAM53
    2. NM_001350194.2NP_001337123.1  protein FAM53C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC104116
      Conserved Domains (1) summary
      pfam15242
      Location:4696
      FAM53; Family of FAM53
    3. NM_001350195.2NP_001337124.1  protein FAM53C isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC104116
      Conserved Domains (1) summary
      pfam15242
      Location:10297
      FAM53; Family of FAM53
    4. NM_016605.3NP_057689.1  protein FAM53C isoform 1

      See identical proteins and their annotated locations for NP_057689.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC104116, AK315567
      Consensus CDS
      CCDS4204.1
      UniProtKB/Swiss-Prot
      Q9NYF3
      Related
      ENSP00000239906.5, ENST00000239906.10
      Conserved Domains (1) summary
      pfam15242
      Location:1307
      FAM53; Family of FAM53

    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_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      138337557..138349729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446108.1XP_024301876.1  protein FAM53C isoform X1

      Conserved Domains (1) summary
      pfam15242
      Location:52313
      FAM53; Family of FAM53
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