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

Gene ID: 139231, updated on 5-Mar-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
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Genomic context

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Location:
Xq22.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (104157066..104195902)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102588277..102627100)
105.20220307 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
  • 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 (19) 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_2023_10

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

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