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

    Gene ID: 51307, updated on 28-Oct-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

    Bibliography

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    Related articles in PubMed

    1. Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A. Miyata Y, et al. Life Sci Alliance, 2023 Dec. PMID 37802655, Free PMC Article
    2. cDNA cloning and genomic structure of three genes localized to human chromosome band 5q31 encoding potential nuclear proteins. Lai F, et al. Genomics, 2000 Nov 15. PMID 11087669
    3. Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q). Lai F, et al. Genomics, 2001 Jan 15. PMID 11161817
    4. Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders. Pintacuda G, et al. Cell Genom, 2023 Mar 8. PMID 36950384, Free PMC Article
    5. A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes. Gloeckner CJ, et al. Proteomics, 2007 Dec. PMID 17979178

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A.
      Title: Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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    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_001135647.2 → NP_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:1 → 307
      FAM53; Family of FAM53

    2. NM_001350194.2 → NP_001337123.1  protein FAM53C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC104116
      Conserved Domains (1) summary
      pfam15242
      Location:46 → 96
      FAM53; Family of FAM53

    3. NM_001350195.2 → NP_001337124.1  protein FAM53C isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC104116
      Conserved Domains (1) summary
      pfam15242
      Location:10 → 297
      FAM53; Family of FAM53

    4. NM_016605.3 → NP_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:1 → 307
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYF3.1 GenPept UniProtKB/Swiss-Prot:Q9NYF3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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