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

Gene ID: 81558, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49710332..49789110, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50573432..50652200, complement)
105.20220307 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)

Genotypes

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_2023_10

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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