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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
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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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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

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