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

    Gene ID: 51307, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:1336
    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
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    Genomic context

    See FAM53C in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138337557..138349729)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138863774..138875947)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137673246..137685418)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GDNF family receptor alpha 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16388 Neighboring gene RPS27A pseudogene 18 Neighboring gene cell division cycle 25C Neighboring gene ReSE screen-validated silencer GRCh37_chr5:137642973-137643148 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:137666651-137667604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16389 Neighboring gene uncharacterized LOC100128966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137706464-137706964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137706965-137707465 Neighboring gene lysine demethylase 3B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137775379-137775912 Neighboring gene receptor accessory protein 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (8 hits/1272 screens)

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in protein import into nucleus  
    Component Evidence Code Pubs
    is_active_in nucleus  

    General protein information

    Preferred Names
    protein FAM53C
    Names
    putative nuclear protein

    NCBI Reference Sequences (RefSeq)

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    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
      5756..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
      B2RDJ5, D3DQB9, 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
      B2RDJ5, D3DQB9, Q9NYF3
      Related
      ENSP00000239906.5, ENST00000239906.10
      Conserved Domains (1) summary
      pfam15242
      Location:1307
      FAM53; Family of FAM53

    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_000005.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      138863774..138875947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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