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    TMEM259 transmembrane protein 259 [ Homo sapiens (human) ]

    Gene ID: 91304, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TMEM259provided by HGNC
    Official Full Name
    transmembrane protein 259provided by HGNC
    Primary source
    HGNC:HGNC:17039
    See related
    Ensembl:ENSG00000182087 MIM:611011; AllianceGenome:HGNC:17039
    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
    MBRL; ASBABP1; C19orf6; R32184_3; MEMBRALIN
    Summary
    Predicted to be involved in positive regulation of ERAD pathway and response to endoplasmic reticulum stress. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in spleen (RPKM 49.2), fat (RPKM 38.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1009653..1021123, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (972322..983792, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1009652..1021122, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9636 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:926209-926969 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:932426-932957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:932958-933488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:934552-935082 Neighboring gene AT-rich interaction domain 3A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:947299-947798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:952365-953066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:953067-953768 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:953750-953958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:955173-955874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:956577-957278 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:957654-957846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:962809-963327 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:965021-965198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:980065-980655 Neighboring gene HNF4 motif-containing MPRA enhancer 174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9644 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:983939-984880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:990841-991786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:993929-994462 Neighboring gene WD repeat domain 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:994463-994995 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:996475-997094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9648 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1009528-1009718 Neighboring gene glutamate ionotropic receptor NMDA type subunit 3B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1014734-1015267 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1018406-1018625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1019009-1019608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9651 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:1025533-1026264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9652 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1028384-1028559 Neighboring gene RNA, U6 small nuclear 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1038259-1038760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1038761-1039260 Neighboring gene calponin 2

    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. Identification and characterization of membralin, a novel tumor-associated gene, in ovarian carcinoma. Chen YC, et al. Biochim Biophys Acta, 2005 Aug 15. PMID 16084606
    2. Characterization and expression of the gene encoding membralin, an evolutionary conserved protein expressed in the central nervous system. Andersson O, et al. Brain Res Gene Expr Patterns, 2002 Oct. PMID 12638133
    3. TMUB1 is an endoplasmic reticulum-resident escortase that promotes the p97-mediated extraction of membrane proteins for degradation. Wang L, et al. Mol Cell, 2022 Sep 15. PMID 35961308
    4. Quality Control of ER Membrane Proteins by the RNF185/Membralin Ubiquitin Ligase Complex. van de Weijer ML, et al. Mol Cell, 2020 Sep 3. PMID 32738194, Free PMC Article
    5. Systematic Affinity Purification Coupled to Mass Spectrometry Identified p62 as Part of the Cannabinoid Receptor CB2 Interactome. Sharaf A, et al. Front Mol Neurosci, 2019. PMID 31616248, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study provides first characterization of human membralin and suggests that membralin is a novel tumor-associated marker in ovarian serous carcinomas.
      Title: Identification and characterization of membralin, a novel tumor-associated gene, in ovarian carcinoma.
    2. genomic organization and expression (membralin)
      Title: Characterization and expression of the gene encoding membralin, an evolutionary conserved protein expressed in the central nervous system.
    Submit: New GeneRIF Correction

    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

    Clone Names

    • MGC4022

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in positive regulation of ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to endoplasmic reticulum stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    membralin
    Names
    aspecific BCL2 ARE-binding protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001033026.2 → NP_001028198.1  membralin isoform 1

      See identical proteins and their annotated locations for NP_001028198.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK090400, AK095756, BQ895919, DQ005958
      Consensus CDS
      CCDS32862.1
      UniProtKB/Swiss-Prot
      O60392, Q4ZIN3, Q8NF79, Q96H30
      Related
      ENSP00000349087.2, ENST00000356663.8
      Conserved Domains (1) summary
      pfam09746
      Location:35 → 402
      Membralin; Tumour-associated protein

    2. NM_033420.4 → NP_219488.1  membralin isoform 2

      See identical proteins and their annotated locations for NP_219488.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK090400, AK095756, BC008957, BQ895919
      Consensus CDS
      CCDS12052.1
      UniProtKB/TrEMBL
      A0A0A0MTU3
      Related
      ENSP00000331423.4, ENST00000333175.9
      Conserved Domains (1) summary
      pfam09746
      Location:35 → 402
      Membralin; Tumour-associated 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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1009653..1021123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451773.2 → XP_024307541.1  membralin isoform X7

      Conserved Domains (2) summary
      pfam09746
      Location:36 → 385
      Membralin; tumor-associated protein
      cl26247
      Location:458 → 603
      DNA_pol3_delta2; DNA polymerase III, delta subunit

    2. XM_047439660.1 → XP_047295616.1  membralin isoform X4

    3. XM_005259676.4 → XP_005259733.1  membralin isoform X2

      Conserved Domains (1) summary
      pfam09746
      Location:35 → 402
      Membralin; Tumour-associated protein

    4. XM_017027457.3 → XP_016882946.1  membralin isoform X6

    5. XM_005259677.4 → XP_005259734.1  membralin isoform X3

      Conserved Domains (1) summary
      pfam09746
      Location:35 → 391
      Membralin; Tumour-associated protein

    6. XM_005259678.4 → XP_005259735.1  membralin isoform X5

      Conserved Domains (1) summary
      pfam09746
      Location:35 → 408
      Membralin; Tumour-associated protein

    7. XM_005259675.4 → XP_005259732.1  membralin isoform X1

      Conserved Domains (1) summary
      pfam09746
      Location:35 → 408
      Membralin; Tumour-associated protein

    8. XM_047439661.1 → XP_047295617.1  membralin isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      972322..983792 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322574.1 → XP_054178549.1  membralin isoform X7

    2. XM_054322571.1 → XP_054178546.1  membralin isoform X4

    3. XM_054322569.1 → XP_054178544.1  membralin isoform X2

    4. XM_054322573.1 → XP_054178548.1  membralin isoform X6

    5. XM_054322570.1 → XP_054178545.1  membralin isoform X3

    6. XM_054322572.1 → XP_054178547.1  membralin isoform X5

    7. XM_054322568.1 → XP_054178543.1  membralin isoform X1

    8. XM_054322575.1 → XP_054178550.1  membralin isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4ZIN3.1 GenPept UniProtKB/Swiss-Prot:Q4ZIN3

    Gene LinkOut

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

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