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    TMEM255A transmembrane protein 255A [ Homo sapiens (human) ]

    Gene ID: 55026, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM255Aprovided by HGNC
    Official Full Name
    transmembrane protein 255Aprovided by HGNC
    Primary source
    HGNC:HGNC:26086
    See related
    Ensembl:ENSG00000125355 AllianceGenome:HGNC:26086
    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
    FAM70A
    Summary
    Predicted to act upstream of or within response to bacterium. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in ovary (RPKM 8.6), brain (RPKM 2.6) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM255A in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (120251433..120311461, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118626490..118686494, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119392505..119445316, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 30 Neighboring gene Sharpr-MPRA regulatory region 12959 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:119384374-119385212 Neighboring gene NFKB activating protein pseudogene 1 Neighboring gene prefoldin subunit 4-like Neighboring gene zinc finger and BTB domain containing 33 Neighboring gene NANOG hESC enhancer GRCh37_chrX:119408635-119409312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29903 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:119466056-119466798 Neighboring gene NANOG hESC enhancer GRCh37_chrX:119474477-119474999 Neighboring gene ATPase Na+/K+ transporting family member beta 4 Neighboring gene lysosomal associated membrane protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:119603089-119603353

    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. Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. Majer F, et al. Am J Med Genet A, 2020 Jan. PMID 31729179
    2. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    3. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    4. A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape. Hubel P, et al. Nat Immunol, 2019 Apr. PMID 30833792
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    Clone Names

    • FLJ20716

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 255A
    Names
    family with sequence similarity 70, member A
    protein FAM70A

    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_001104544.3 → NP_001098014.1  transmembrane protein 255A isoform 2

      See identical proteins and their annotated locations for NP_001098014.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC002086, AL512286
      Consensus CDS
      CCDS43986.1
      UniProtKB/TrEMBL
      Q7Z4S8
      Related
      ENSP00000360420.4, ENST00000371369.9
      Conserved Domains (1) summary
      pfam14967
      Location:8 → 324
      FAM70; FAM70 protein

    2. NM_001104545.2 → NP_001098015.1  transmembrane protein 255A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks three alternate in-frame exons in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC002086, AL512286
      Consensus CDS
      CCDS48157.1
      UniProtKB/Swiss-Prot
      Q5JRV8
      UniProtKB/TrEMBL
      Q7Z4S8
      Related
      ENSP00000405781.1, ENST00000440464.5
      Conserved Domains (1) summary
      pfam14967
      Location:9 → 240
      FAM70; FAM70 protein

    3. NM_017938.4 → NP_060408.3  transmembrane protein 255A isoform 1

      See identical proteins and their annotated locations for NP_060408.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC002086, AL512286
      Consensus CDS
      CCDS14597.1
      UniProtKB/Swiss-Prot
      A8K0W9, B1APR4, B3KPI6, E9PAR3, Q5JRV8, Q86Y72, Q9NWN8
      UniProtKB/TrEMBL
      Q7Z4S8
      Related
      ENSP00000310110.5, ENST00000309720.9
      Conserved Domains (1) summary
      pfam14967
      Location:9 → 348
      FAM70; FAM70 protein

    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
      120251433..120311461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029619.3 → XP_016885108.1  transmembrane protein 255A isoform X1

      UniProtKB/TrEMBL
      Q7Z4S8

    2. XM_047442232.1 → XP_047298188.1  transmembrane protein 255A isoform X3

      Related
      ENSP00000428013.1, ENST00000519908.1

    3. XM_047442231.1 → XP_047298187.1  transmembrane protein 255A isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      118626490..118686494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327342.1 → XP_054183317.1  transmembrane protein 255A isoform X1

    2. XM_054327344.1 → XP_054183319.1  transmembrane protein 255A isoform X3

    3. XM_054327343.1 → XP_054183318.1  transmembrane protein 255A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JRV8.1 GenPept UniProtKB/Swiss-Prot:Q5JRV8

    Gene LinkOut

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

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