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    FAM117A family with sequence similarity 117 member A [ Homo sapiens (human) ]

    Gene ID: 81558, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM117Aprovided by HGNC
    Official Full Name
    family with sequence similarity 117 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:24179
    See related
    Ensembl:ENSG00000121104 AllianceGenome:HGNC:24179
    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 bone marrow (RPKM 19.5), spleen (RPKM 14.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM117A in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49710332..49789110, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50573432..50652200, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47787694..47841493, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984999 Neighboring gene NANOG hESC enhancer GRCh37_chr17:47695165-47695679 Neighboring gene speckle type BTB/POZ protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47784629-47785262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47785263-47785896 Neighboring gene solute carrier family 35 member B1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47796530-47797090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8675 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47865191-47865964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12372 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47879701-47880202 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47880203-47880702 Neighboring gene SRP14 pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:47893039-47894031 Neighboring gene lysine acetyltransferase 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:47911219-47911431 Neighboring gene uncharacterized LOC729220 Neighboring gene tachykinin precursor 4

    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
    • 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. FAM117A Is a New Prognostic Marker of Lung Adenocarcinoma and Predicts Sensitivity to PD0332991. Wu C, et al. Evid Based Complement Alternat Med, 2022. PMID 35280504, Free PMC Article
    2. DYRK1A regulates the recruitment of 53BP1 to the sites of DNA damage in part through interaction with RNF169. Menon VR, et al. Cell Cycle, 2019 Mar. PMID 30773093, Free PMC Article
    3. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568
    4. A central chaperone-like role for 14-3-3 proteins in human cells. Segal D, et al. Mol Cell, 2023 Mar 16. PMID 36931259
    5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Boldt K, et al. Nat Commun, 2016 May 13. PMID 27173435, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    protein FAM117A
    Names
    C/EBP-induced 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.

    mRNA and Protein(s)

    1. NM_001411126.1 → NP_001398055.1  protein FAM117A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC015795
      Consensus CDS
      CCDS92358.1
      Related
      ENSP00000465808.1, ENST00000513602.5

    2. NM_030802.4 → NP_110429.1  protein FAM117A isoform 1

      See identical proteins and their annotated locations for NP_110429.1

      Status: VALIDATED

      Source sequence(s)
      BC037572
      Consensus CDS
      CCDS11553.1
      UniProtKB/Swiss-Prot
      B7Z7Q3, Q9C073
      Related
      ENSP00000240364.2, ENST00000240364.7
      Conserved Domains (1) summary
      pfam15388
      Location:86 → 398
      FAM117; Protein Family FAM117

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      49710332..49789110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436858.1 → XP_047292814.1  protein FAM117A isoform X3

    2. XM_017025182.2 → XP_016880671.1  protein FAM117A isoform X1

    3. XM_047436857.1 → XP_047292813.1  protein FAM117A isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      50573432..50652200 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317444.1 → XP_054173419.1  protein FAM117A isoform X3

    2. XM_054317442.1 → XP_054173417.1  protein FAM117A isoform X1

    3. XM_054317443.1 → XP_054173418.1  protein FAM117A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C073.1 GenPept UniProtKB/Swiss-Prot:Q9C073

    Gene LinkOut

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