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TMEM259 transmembrane protein 259 [ Homo sapiens (human) ]

Gene ID: 91304, updated on 10-Dec-2024

Summary

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 active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Dec 2024]
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

See TMEM259 in Genome Data Viewer
Location:
19p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1009653..1021123, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (972322..983792, complement)
RS_2024_09 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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

General gene information

Clone Names

  • MGC4022

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in positive regulation of ERAD pathway  
involved_in response to endoplasmic reticulum stress  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum  
located_in endoplasmic reticulum membrane  

General protein information

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_001033026.2NP_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:35402
    Membralin; Tumour-associated protein
  2. NM_033420.4NP_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:35402
    Membralin; Tumour-associated 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_000019.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024451773.2XP_024307541.1  membralin isoform X7

    Conserved Domains (2) summary
    pfam09746
    Location:36385
    Membralin; tumor-associated protein
    cl26247
    Location:458603
    DNA_pol3_delta2; DNA polymerase III, delta subunit
  2. XM_047439660.1XP_047295616.1  membralin isoform X4

  3. XM_005259676.4XP_005259733.1  membralin isoform X2

    Conserved Domains (1) summary
    pfam09746
    Location:35402
    Membralin; Tumour-associated protein
  4. XM_017027457.3XP_016882946.1  membralin isoform X6

  5. XM_005259677.4XP_005259734.1  membralin isoform X3

    Conserved Domains (1) summary
    pfam09746
    Location:35391
    Membralin; Tumour-associated protein
  6. XM_005259678.4XP_005259735.1  membralin isoform X5

    Conserved Domains (1) summary
    pfam09746
    Location:35408
    Membralin; Tumour-associated protein
  7. XM_005259675.4XP_005259732.1  membralin isoform X1

    Conserved Domains (1) summary
    pfam09746
    Location:35408
    Membralin; Tumour-associated protein
  8. XM_047439661.1XP_047295617.1  membralin isoform X8

    UniProtKB/TrEMBL
    A0A0A0MTU3

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_054322574.1XP_054178549.1  membralin isoform X7

  2. XM_054322571.1XP_054178546.1  membralin isoform X4

  3. XM_054322569.1XP_054178544.1  membralin isoform X2

  4. XM_054322573.1XP_054178548.1  membralin isoform X6

  5. XM_054322570.1XP_054178545.1  membralin isoform X3

  6. XM_054322572.1XP_054178547.1  membralin isoform X5

  7. XM_054322568.1XP_054178543.1  membralin isoform X1

  8. XM_054322575.1XP_054178550.1  membralin isoform X8

    UniProtKB/TrEMBL
    A0A0A0MTU3
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