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Protein

Membralin

Gene

TMEM259

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

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 similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Membralin
Alternative name(s):
Transmembrane protein 259
Gene namesi
Name:TMEM259
Synonyms:C19orf6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:17039. TMEM259.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei70 – 90HelicalSequence analysisAdd BLAST21
Transmembranei302 – 322HelicalSequence analysisAdd BLAST21
Transmembranei346 – 366HelicalSequence analysisAdd BLAST21
Transmembranei426 – 446HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000182087.
PharmGKBiPA134936083.

Polymorphism and mutation databases

BioMutaiTMEM259.
DMDMi68565394.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000962732 – 620MembralinAdd BLAST619

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei29PhosphothreonineCombined sources1
Glycosylationi189N-linked (GlcNAc...)1 Publication1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ4ZIN3.
MaxQBiQ4ZIN3.
PaxDbiQ4ZIN3.
PeptideAtlasiQ4ZIN3.
PRIDEiQ4ZIN3.

PTM databases

iPTMnetiQ4ZIN3.
PhosphoSitePlusiQ4ZIN3.

Expressioni

Gene expression databases

BgeeiENSG00000182087.
CleanExiHS_C19orf6.
ExpressionAtlasiQ4ZIN3. baseline and differential.
GenevisibleiQ4ZIN3. HS.

Organism-specific databases

HPAiHPA042669.
HPA054801.

Interactioni

Subunit structurei

Interacts with ERLIN2.By similarity

Protein-protein interaction databases

BioGridi124814. 20 interactors.
IntActiQ4ZIN3. 5 interactors.
STRINGi9606.ENSP00000349087.

Structurei

3D structure databases

ProteinModelPortaliQ4ZIN3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the membralin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2092. Eukaryota.
ENOG410XNPC. LUCA.
GeneTreeiENSGT00390000013329.
HOGENOMiHOG000113494.
HOVERGENiHBG053033.
InParanoidiQ4ZIN3.
OMAiPIFLQFC.
OrthoDBiEOG091G0KJ0.
PhylomeDBiQ4ZIN3.
TreeFamiTF313323.

Family and domain databases

InterProiIPR019144. Membralin.
[Graphical view]
PfamiPF09746. Membralin. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q4ZIN3-1) [UniParc]FASTAAdd to basket
Also known as: Long, Membralin-1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:620
Mass (Da):67,889
Last modified:June 7, 2005 - v1
Checksum:i7403EBF121ACD8A4
GO
Isoform 2 (identifier: Q4ZIN3-2) [UniParc]FASTAAdd to basket
Also known as: Short, Membralin-2, Membralin-3

The sequence of this isoform differs from the canonical sequence as follows:
     407-408: FF → IP
     409-620: Missing.

Show »
Length:408
Mass (Da):46,431
Checksum:iE57802391CF26F39
GO

Sequence cautioni

The sequence AAC12681 differs from that shown. Reason: Erroneous gene model prediction.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014377407 – 408FF → IP in isoform 2. 3 Publications2
Alternative sequenceiVSP_014378409 – 620Missing in isoform 2. 3 PublicationsAdd BLAST212

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.
CCDSiCCDS12052.1. [Q4ZIN3-2]
CCDS32862.1. [Q4ZIN3-1]
RefSeqiNP_001028198.1. NM_001033026.1. [Q4ZIN3-1]
NP_219488.1. NM_033420.3. [Q4ZIN3-2]
UniGeneiHs.515003.

Genome annotation databases

EnsembliENST00000333175; ENSP00000331423; ENSG00000182087. [Q4ZIN3-2]
ENST00000356663; ENSP00000349087; ENSG00000182087. [Q4ZIN3-1]
GeneIDi91304.
KEGGihsa:91304.
UCSCiuc002lqr.2. human. [Q4ZIN3-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS12052.1. [Q4ZIN3-2]
CCDS32862.1. [Q4ZIN3-1]
RefSeqiNP_001028198.1. NM_001033026.1. [Q4ZIN3-1]
NP_219488.1. NM_033420.3. [Q4ZIN3-2]
UniGeneiHs.515003.

3D structure databases

ProteinModelPortaliQ4ZIN3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124814. 20 interactors.
IntActiQ4ZIN3. 5 interactors.
STRINGi9606.ENSP00000349087.

PTM databases

iPTMnetiQ4ZIN3.
PhosphoSitePlusiQ4ZIN3.

Polymorphism and mutation databases

BioMutaiTMEM259.
DMDMi68565394.

Proteomic databases

EPDiQ4ZIN3.
MaxQBiQ4ZIN3.
PaxDbiQ4ZIN3.
PeptideAtlasiQ4ZIN3.
PRIDEiQ4ZIN3.

Protocols and materials databases

DNASUi91304.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333175; ENSP00000331423; ENSG00000182087. [Q4ZIN3-2]
ENST00000356663; ENSP00000349087; ENSG00000182087. [Q4ZIN3-1]
GeneIDi91304.
KEGGihsa:91304.
UCSCiuc002lqr.2. human. [Q4ZIN3-1]

Organism-specific databases

CTDi91304.
GeneCardsiTMEM259.
HGNCiHGNC:17039. TMEM259.
HPAiHPA042669.
HPA054801.
MIMi611011. gene.
neXtProtiNX_Q4ZIN3.
OpenTargetsiENSG00000182087.
PharmGKBiPA134936083.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2092. Eukaryota.
ENOG410XNPC. LUCA.
GeneTreeiENSGT00390000013329.
HOGENOMiHOG000113494.
HOVERGENiHBG053033.
InParanoidiQ4ZIN3.
OMAiPIFLQFC.
OrthoDBiEOG091G0KJ0.
PhylomeDBiQ4ZIN3.
TreeFamiTF313323.

Miscellaneous databases

GenomeRNAii91304.
PROiQ4ZIN3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182087.
CleanExiHS_C19orf6.
ExpressionAtlasiQ4ZIN3. baseline and differential.
GenevisibleiQ4ZIN3. HS.

Family and domain databases

InterProiIPR019144. Membralin.
[Graphical view]
PfamiPF09746. Membralin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMBRL_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.