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    FAM199X family with sequence similarity 199, X-linked [ Homo sapiens (human) ]

    Gene ID: 139231, updated on 19-Sep-2024

    Summary

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    Official Symbol
    FAM199Xprovided by HGNC
    Official Full Name
    family with sequence similarity 199, X-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:25195
    See related
    Ensembl:ENSG00000123575 AllianceGenome:HGNC:25195
    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
    Also known as
    CXorf39
    Expression
    Ubiquitous expression in brain (RPKM 16.8), fat (RPKM 14.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM199X in Genome Data Viewer
    Location:
    Xq22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (104157066..104195902)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102588277..102627100)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103411134..103440583)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29826 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103410976-103411476 Neighboring gene solute carrier family 25 member 53 Neighboring gene uncharacterized LOC286437 Neighboring gene zinc finger CCHC-type containing 18 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:103481389-103481600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103498244-103499059 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:103502018-103502809 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:103515830-103516014 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103587712-103588212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103611071-103611570 Neighboring gene ESX homeobox 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103811957-103812714 Neighboring gene interleukin 1 receptor accessory protein like 2 Neighboring gene PHB1 pseudogene 10

    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. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    2. Loss of TRIM31 promotes breast cancer progression through regulating K48- and K63-linked ubiquitination of p53. Guo Y, et al. Cell Death Dis, 2021 Oct 14. PMID 34650049, Free PMC Article
    3. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. Varjosalo M, et al. Nat Methods, 2013 Apr. PMID 23455922
    4. A High-Density Map for Navigating the Human Polycomb Complexome. Hauri S, et al. Cell Rep, 2016 Oct 4. PMID 27705803
    5. Mutual regulation between OGT and XIAP to control colon cancer cell growth and invasion. Seo HG, et al. Cell Death Dis, 2020 Sep 29. PMID 32994395, Free PMC Article

    See all (21) 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM199X

    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_207318.4 → NP_997201.1  protein FAM199X

      See identical proteins and their annotated locations for NP_997201.1

      Status: VALIDATED

      Source sequence(s)
      AI571005, AL049631, AL135959, BC057847
      Consensus CDS
      CCDS35364.1
      UniProtKB/Swiss-Prot
      Q6PEV8, Q8WVP6, Q96AV3
      UniProtKB/TrEMBL
      B0QYU2
      Related
      ENSP00000417581.1, ENST00000493442.2
      Conserved Domains (1) summary
      pfam15814
      Location:66 → 388
      FAM199X; Protein family FAM199X

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      104157066..104195902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441826.1 → XP_047297782.1  protein FAM199X isoform X2

    2. XM_005262079.4 → XP_005262136.1  protein FAM199X isoform X1

      See identical proteins and their annotated locations for XP_005262136.1

      UniProtKB/Swiss-Prot
      Q6PEV8
      Conserved Domains (1) summary
      pfam15814
      Location:66 → 345
      FAM199X; Protein family FAM199X

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      102588277..102627100
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326468.1 → XP_054182443.1  protein FAM199X isoform X2

    2. XM_054326467.1 → XP_054182442.1  protein FAM199X isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PEV8.1 GenPept UniProtKB/Swiss-Prot:Q6PEV8

    Gene LinkOut

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

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