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

Gene ID: 55026, updated on 3-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in ovary (RPKM 8.6), brain (RPKM 2.6) and 15 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (120251433..120311461, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118626490..118686494, complement)
105.20220307 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)

Genotypes

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_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
    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

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