UniProtKB - Q4ZIN3 (MBRL_HUMAN)
Membralin
TMEM259
Functioni
May have a role in the ERAD pathway required for clearance of misfolded proteins in the endoplasmic reticulum (ER). Promotes survival of motor neurons, probably by protecting against ER stress.
By similarityGO - Biological processi
- negative regulation of neuron death Source: Ensembl
- positive regulation of ERAD pathway Source: GO_Central
- response to endoplasmic reticulum stress Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q4ZIN3 |
SignaLinki | Q4ZIN3 |
Names & Taxonomyi
Protein namesi | Recommended name: MembralinAlternative name(s): Transmembrane protein 259 |
Gene namesi | Name:TMEM259 Synonyms:C19orf6 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17039, TMEM259 |
MIMi | 611011, gene |
neXtProti | NX_Q4ZIN3 |
VEuPathDBi | HostDB:ENSG00000182087 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein Sequence analysis
Endoplasmic reticulum
- endoplasmic reticulum Source: GO_Central
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 70 – 90 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 302 – 322 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 346 – 366 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 426 – 446 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 91304 |
OpenTargetsi | ENSG00000182087 |
PharmGKBi | PA134936083 |
Miscellaneous databases
Pharosi | Q4ZIN3, Tbio |
Genetic variation databases
BioMutai | TMEM259 |
DMDMi | 68565394 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000096273 | 2 – 620 | MembralinAdd BLAST | 619 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserineCombined sources | 1 | |
Modified residuei | 29 | PhosphothreonineCombined sources | 1 | |
Glycosylationi | 189 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Keywords - PTMi
Acetylation, Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q4ZIN3 |
jPOSTi | Q4ZIN3 |
MassIVEi | Q4ZIN3 |
MaxQBi | Q4ZIN3 |
PaxDbi | Q4ZIN3 |
PeptideAtlasi | Q4ZIN3 |
PRIDEi | Q4ZIN3 |
ProteomicsDBi | 62384 [Q4ZIN3-1] 62385 [Q4ZIN3-2] |
PTM databases
GlyGeni | Q4ZIN3, 1 site |
iPTMneti | Q4ZIN3 |
PhosphoSitePlusi | Q4ZIN3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000182087, Expressed in left lobe of thyroid gland and 213 other tissues |
ExpressionAtlasi | Q4ZIN3, baseline and differential |
Genevisiblei | Q4ZIN3, HS |
Organism-specific databases
HPAi | ENSG00000182087, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with ERLIN2.
By similarityProtein-protein interaction databases
BioGRIDi | 124814, 94 interactors |
IntActi | Q4ZIN3, 20 interactors |
MINTi | Q4ZIN3 |
STRINGi | 9606.ENSP00000349087 |
Miscellaneous databases
RNActi | Q4ZIN3, protein |
Structurei
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 33 | DisorderedSequence analysisAdd BLAST | 33 | |
Regioni | 474 – 517 | DisorderedSequence analysisAdd BLAST | 44 | |
Regioni | 568 – 620 | DisorderedSequence analysisAdd BLAST | 53 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 478 – 492 | Polar residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2092, Eukaryota |
GeneTreei | ENSGT00390000013329 |
HOGENOMi | CLU_019069_2_1_1 |
InParanoidi | Q4ZIN3 |
OMAi | MTVDMFE |
OrthoDBi | 426985at2759 |
PhylomeDBi | Q4ZIN3 |
TreeFami | TF313323 |
Family and domain databases
InterProi | View protein in InterPro IPR019144, Membralin |
PANTHERi | PTHR21650:SF4, PTHR21650:SF4, 1 hit |
Pfami | View protein in Pfam PF09746, Membralin, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSEHVEPAAP GPGPNGGGGG PAPARGPRTP NLNPNPLINV RDRLFHALFF
60 70 80 90 100
KMAVTYSRLF PPAFRRLFEF FVLLKALFVL FVLAYIHIVF SRSPINCLEH
110 120 130 140 150
VRDKWPREGI LRVEVRHNSS RAPVFLQFCD SGGRGSFPGL AVEPGSNLDM
160 170 180 190 200
EDEEEEELTM EMFGNSSIKF ELDIEPKVFK PPSSTEALND SQEFPFPETP
210 220 230 240 250
TKVWPQDEYI VEYSLEYGFL RLSQATRQRL SIPVMVVTLD PTRDQCFGDR
260 270 280 290 300
FSRLLLDEFL GYDDILMSSV KGLAENEENK GFLRNVVSGE HYRFVSMWMA
310 320 330 340 350
RTSYLAAFAI MVIFTLSVSM LLRYSHHQIF VFIVDLLQML EMNMAIAFPA
360 370 380 390 400
APLLTVILAL VGMEAIMSEF FNDTTTAFYI ILIVWLADQY DAICCHTSTS
410 420 430 440 450
KRHWLRFFYL YHFAFYAYHY RFNGQYSSLA LVTSWLFIQH SMIYFFHHYE
460 470 480 490 500
LPAILQQVRI QEMLLQAPPL GPGTPTALPD DMNNNSGAPA TAPDSAGQPP
510 520 530 540 550
ALGPVSPGAS GSPGPVAAAP SSLVAAAASV AAAAGGDLGW MAETAAIITD
560 570 580 590 600
ASFLSGLSAS LLERRPASPL GPAGGLPHAP QDSVPPSDSA ASDTTPLGAA
610 620
VGGPSPASMA PTEAPSEVGS
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketU3KPY4 | U3KPY4_HUMAN | Membralin | TMEM259 | 421 | Annotation score: | ||
U3KPU1 | U3KPU1_HUMAN | Membralin | TMEM259 | 209 | Annotation score: | ||
A0A0A0MTU3 | A0A0A0MTU3_HUMAN | Membralin | TMEM259 | 406 | Annotation score: | ||
U3KQQ5 | U3KQQ5_HUMAN | Membralin | TMEM259 | 139 | Annotation score: |
Sequence cautioni
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_014377 | 407 – 408 | FF → IP in isoform 2. 3 Publications | 2 | |
Alternative sequenceiVSP_014378 | 409 – 620 | Missing in isoform 2. 3 PublicationsAdd BLAST | 212 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ005958 mRNA Translation: AAY27747.1 AC004528 Genomic DNA Translation: AAC12681.1 Sequence problems. BC008957 mRNA Translation: AAH08957.1 AK090400 mRNA Translation: BAC03381.1 |
CCDSi | CCDS12052.1 [Q4ZIN3-2] CCDS32862.1 [Q4ZIN3-1] |
RefSeqi | NP_001028198.1, NM_001033026.1 [Q4ZIN3-1] NP_219488.1, NM_033420.3 [Q4ZIN3-2] |
Genome annotation databases
Ensembli | ENST00000333175; ENSP00000331423; ENSG00000182087 [Q4ZIN3-2] ENST00000356663; ENSP00000349087; ENSG00000182087 |
GeneIDi | 91304 |
KEGGi | hsa:91304 |
MANE-Selecti | ENST00000356663.8; ENSP00000349087.2; NM_001033026.2; NP_001028198.1 |
UCSCi | uc002lqr.2, human [Q4ZIN3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ005958 mRNA Translation: AAY27747.1 AC004528 Genomic DNA Translation: AAC12681.1 Sequence problems. BC008957 mRNA Translation: AAH08957.1 AK090400 mRNA Translation: BAC03381.1 |
CCDSi | CCDS12052.1 [Q4ZIN3-2] CCDS32862.1 [Q4ZIN3-1] |
RefSeqi | NP_001028198.1, NM_001033026.1 [Q4ZIN3-1] NP_219488.1, NM_033420.3 [Q4ZIN3-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124814, 94 interactors |
IntActi | Q4ZIN3, 20 interactors |
MINTi | Q4ZIN3 |
STRINGi | 9606.ENSP00000349087 |
PTM databases
GlyGeni | Q4ZIN3, 1 site |
iPTMneti | Q4ZIN3 |
PhosphoSitePlusi | Q4ZIN3 |
Genetic variation databases
BioMutai | TMEM259 |
DMDMi | 68565394 |
Proteomic databases
EPDi | Q4ZIN3 |
jPOSTi | Q4ZIN3 |
MassIVEi | Q4ZIN3 |
MaxQBi | Q4ZIN3 |
PaxDbi | Q4ZIN3 |
PeptideAtlasi | Q4ZIN3 |
PRIDEi | Q4ZIN3 |
ProteomicsDBi | 62384 [Q4ZIN3-1] 62385 [Q4ZIN3-2] |
Protocols and materials databases
Antibodypediai | 10308, 74 antibodies from 17 providers |
DNASUi | 91304 |
Genome annotation databases
Ensembli | ENST00000333175; ENSP00000331423; ENSG00000182087 [Q4ZIN3-2] ENST00000356663; ENSP00000349087; ENSG00000182087 |
GeneIDi | 91304 |
KEGGi | hsa:91304 |
MANE-Selecti | ENST00000356663.8; ENSP00000349087.2; NM_001033026.2; NP_001028198.1 |
UCSCi | uc002lqr.2, human [Q4ZIN3-1] |
Organism-specific databases
CTDi | 91304 |
DisGeNETi | 91304 |
GeneCardsi | TMEM259 |
HGNCi | HGNC:17039, TMEM259 |
HPAi | ENSG00000182087, Low tissue specificity |
MIMi | 611011, gene |
neXtProti | NX_Q4ZIN3 |
OpenTargetsi | ENSG00000182087 |
PharmGKBi | PA134936083 |
VEuPathDBi | HostDB:ENSG00000182087 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2092, Eukaryota |
GeneTreei | ENSGT00390000013329 |
HOGENOMi | CLU_019069_2_1_1 |
InParanoidi | Q4ZIN3 |
OMAi | MTVDMFE |
OrthoDBi | 426985at2759 |
PhylomeDBi | Q4ZIN3 |
TreeFami | TF313323 |
Enzyme and pathway databases
PathwayCommonsi | Q4ZIN3 |
SignaLinki | Q4ZIN3 |
Miscellaneous databases
BioGRID-ORCSi | 91304, 22 hits in 1048 CRISPR screens |
ChiTaRSi | TMEM259, human |
GenomeRNAii | 91304 |
Pharosi | Q4ZIN3, Tbio |
PROi | PR:Q4ZIN3 |
RNActi | Q4ZIN3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000182087, Expressed in left lobe of thyroid gland and 213 other tissues |
ExpressionAtlasi | Q4ZIN3, baseline and differential |
Genevisiblei | Q4ZIN3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019144, Membralin |
PANTHERi | PTHR21650:SF4, PTHR21650:SF4, 1 hit |
Pfami | View protein in Pfam PF09746, Membralin, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | MBRL_HUMAN | |
Accessioni | Q4ZIN3Primary (citable) accession number: Q4ZIN3 Secondary accession number(s): O60392, Q8NF79, Q96H30 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 5, 2005 |
Last sequence update: | June 7, 2005 | |
Last modified: | February 23, 2022 | |
This is version 132 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families