UniProtKB - O00258 (GET1_HUMAN)
Protein
Guided entry of tail-anchored proteins factor 1
Gene
GET1
Organism
Homo sapiens (Human)
Status
Functioni
Receptor for GET3/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane.1 Publication
GO - Biological processi
- otic vesicle development Source: Ensembl
- posttranslational protein targeting to endoplasmic reticulum membrane Source: Ensembl
- sensory perception of sound Source: Ensembl
- synapse organization Source: Ensembl
- tail-anchored membrane protein insertion into ER membrane Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | O00258 |
Reactomei | R-HSA-9609523, Insertion of tail-anchored proteins into the endoplasmic reticulum membrane |
Protein family/group databases
TCDBi | 3.A.19.1.1, the tms recognition/insertion complex (trc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Guided entry of tail-anchored proteins factor 1ImportedAlternative name(s): Congenital heart disease 5 protein Tail-anchored protein insertion receptor WRB Tryptophan-rich basic protein |
Gene namesi | |
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
EuPathDBi | HostDB:ENSG00000182093.14 |
HGNCi | HGNC:12790, GET1 |
MIMi | 602915, gene |
neXtProti | NX_O00258 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Endoplasmic reticulum
- endoplasmic reticulum Source: GO_Central
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Nucleus
- nucleus Source: ProtInc
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 8 | LumenalSequence analysis | 8 | |
Transmembranei | 9 – 29 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 30 – 99 | CytoplasmicSequence analysisAdd BLAST | 70 | |
Transmembranei | 100 – 120 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 121 – 148 | LumenalSequence analysisAdd BLAST | 28 | |
Transmembranei | 149 – 169 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 170 – 174 | CytoplasmicSequence analysis | 5 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 7485 |
OpenTargetsi | ENSG00000182093 |
PharmGKBi | PA37391 |
Miscellaneous databases
Pharosi | O00258, Tbio |
Polymorphism and mutation databases
BioMutai | WRB |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000065979 | 1 – 174 | Guided entry of tail-anchored proteins factor 1Add BLAST | 174 |
Proteomic databases
EPDi | O00258 |
jPOSTi | O00258 |
MassIVEi | O00258 |
MaxQBi | O00258 |
PaxDbi | O00258 |
PeptideAtlasi | O00258 |
PRIDEi | O00258 |
ProteomicsDBi | 47813 [O00258-1] 47814 [O00258-2] |
PTM databases
iPTMneti | O00258 |
PhosphoSitePlusi | O00258 |
Expressioni
Gene expression databases
Bgeei | ENSG00000182093, Expressed in bronchial epithelial cell and 248 other tissues |
ExpressionAtlasi | O00258, baseline and differential |
Genevisiblei | O00258, HS |
Organism-specific databases
HPAi | ENSG00000182093, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with GET3/TRC40.
1 PublicationBinary interactionsi
Hide detailsO00258
Protein-protein interaction databases
BioGRIDi | 113322, 48 interactors |
IntActi | O00258, 35 interactors |
STRINGi | 9606.ENSP00000327716 |
Miscellaneous databases
RNActi | O00258, protein |
Structurei
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 39 – 97 | Interaction with GET3/TRC40Add BLAST | 59 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 39 – 94 | Sequence analysisAdd BLAST | 56 |
Sequence similaritiesi
Belongs to the WRB/GET1 family.Curated
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4253, Eukaryota |
GeneTreei | ENSGT00390000008610 |
InParanoidi | O00258 |
OMAi | MACRRVI |
OrthoDBi | 1508713at2759 |
PhylomeDBi | O00258 |
TreeFami | TF314708 |
Family and domain databases
InterProi | View protein in InterPro IPR028945, Get1 |
Pfami | View protein in Pfam PF04420, CHD5, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O00258-1) [UniParc]FASTAAdd to basket
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
MSSAAADHWA WLLVLSFVFG CNVLRILLPS FSSFMSRVLQ KDAEQESQMR
60 70 80 90 100
AEIQDMKQEL STVNMMDEFA RYARLERKIN KMTDKLKTHV KARTAQLAKI
110 120 130 140 150
KWVISVAFYV LQAALMISLI WKYYSVPVAV VPSKWITPLD RLVAFPTRVA
160 170
GGVGITCWIL VCNKVVAIVL HPFS
Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB4DLW3 | B4DLW3_HUMAN | Guided entry of tail-anchored prote... | GET1 WRB, hCG_401226 | 103 | Annotation score: | ||
H7BYE5 | H7BYE5_HUMAN | Guided entry of tail-anchored prote... | GET1 | 116 | Annotation score: | ||
H7C384 | H7C384_HUMAN | Guided entry of tail-anchored prote... | GET1 | 139 | Annotation score: | ||
B7Z1T1 | B7Z1T1_HUMAN | Guided entry of tail-anchored prote... | GET1 | 172 | Annotation score: | ||
A0A096LNT6 | A0A096LNT6_HUMAN | Guided entry of tail-anchored prote... | GET1 | 69 | Annotation score: | ||
A0A3B3ISE5 | A0A3B3ISE5_HUMAN | Guided entry of tail-anchored prote... | GET1 | 59 | Annotation score: | ||
A0A3B3ISA8 | A0A3B3ISA8_HUMAN | Guided entry of tail-anchored prote... | GET1 | 135 | Annotation score: | ||
A0A3B3IT79 | A0A3B3IT79_HUMAN | Guided entry of tail-anchored prote... | GET1 | 96 | Annotation score: | ||
A0A3B3IUG4 | A0A3B3IUG4_HUMAN | Guided entry of tail-anchored prote... | GET1 | 72 | Annotation score: | ||
C9JLV3 | C9JLV3_HUMAN | Guided entry of tail-anchored prote... | GET1 | 35 | Annotation score: | ||
There is more potential isoformShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 31 | F → I in CAA73081 (PubMed:9544840).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051491 | 110 | V → I. Corresponds to variant dbSNP:rs35946782Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043081 | 1 – 34 | Missing in isoform 2. 1 PublicationAdd BLAST | 34 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y12478 mRNA Translation: CAA73081.1 AK293113 mRNA Translation: BAF85802.1 AK299144 mRNA Translation: BAG61196.1 AF064861 Genomic DNA No translation available. AF121781 Genomic DNA No translation available. AL163279 Genomic DNA Translation: CAB90454.1 CH471079 Genomic DNA Translation: EAX09645.1 CH471079 Genomic DNA Translation: EAX09647.1 CH471079 Genomic DNA Translation: EAX09649.1 BC012415 mRNA Translation: AAH12415.1 |
CCDSi | CCDS13664.1 [O00258-1] CCDS54485.1 [O00258-2] |
RefSeqi | NP_001139690.1, NM_001146218.1 [O00258-2] NP_004618.2, NM_004627.4 [O00258-1] |
Genome annotation databases
Ensembli | ENST00000380708; ENSP00000370084; ENSG00000182093 [O00258-2] ENST00000398753; ENSP00000381737; ENSG00000182093 [O00258-2] ENST00000649170; ENSP00000496813; ENSG00000182093 [O00258-1] ENST00000650376; ENSP00000497103; ENSG00000182093 [O00258-2] |
GeneIDi | 7485 |
KEGGi | hsa:7485 |
UCSCi | uc002yxs.4, human [O00258-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y12478 mRNA Translation: CAA73081.1 AK293113 mRNA Translation: BAF85802.1 AK299144 mRNA Translation: BAG61196.1 AF064861 Genomic DNA No translation available. AF121781 Genomic DNA No translation available. AL163279 Genomic DNA Translation: CAB90454.1 CH471079 Genomic DNA Translation: EAX09645.1 CH471079 Genomic DNA Translation: EAX09647.1 CH471079 Genomic DNA Translation: EAX09649.1 BC012415 mRNA Translation: AAH12415.1 |
CCDSi | CCDS13664.1 [O00258-1] CCDS54485.1 [O00258-2] |
RefSeqi | NP_001139690.1, NM_001146218.1 [O00258-2] NP_004618.2, NM_004627.4 [O00258-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6SO5 | electron microscopy | 4.20 | C/D | 1-174 | [»] | |
ModBasei | Search... | |||||
SWISS-MODEL-Workspacei | Submit a new modelling project... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113322, 48 interactors |
IntActi | O00258, 35 interactors |
STRINGi | 9606.ENSP00000327716 |
Protein family/group databases
TCDBi | 3.A.19.1.1, the tms recognition/insertion complex (trc) family |
PTM databases
iPTMneti | O00258 |
PhosphoSitePlusi | O00258 |
Polymorphism and mutation databases
BioMutai | WRB |
Proteomic databases
EPDi | O00258 |
jPOSTi | O00258 |
MassIVEi | O00258 |
MaxQBi | O00258 |
PaxDbi | O00258 |
PeptideAtlasi | O00258 |
PRIDEi | O00258 |
ProteomicsDBi | 47813 [O00258-1] 47814 [O00258-2] |
Protocols and materials databases
Antibodypediai | 3116, 136 antibodies |
Genome annotation databases
Ensembli | ENST00000380708; ENSP00000370084; ENSG00000182093 [O00258-2] ENST00000398753; ENSP00000381737; ENSG00000182093 [O00258-2] ENST00000649170; ENSP00000496813; ENSG00000182093 [O00258-1] ENST00000650376; ENSP00000497103; ENSG00000182093 [O00258-2] |
GeneIDi | 7485 |
KEGGi | hsa:7485 |
UCSCi | uc002yxs.4, human [O00258-1] |
Organism-specific databases
CTDi | 7485 |
DisGeNETi | 7485 |
EuPathDBi | HostDB:ENSG00000182093.14 |
GeneCardsi | GET1 |
HGNCi | HGNC:12790, GET1 |
HPAi | ENSG00000182093, Low tissue specificity |
MIMi | 602915, gene |
neXtProti | NX_O00258 |
OpenTargetsi | ENSG00000182093 |
PharmGKBi | PA37391 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4253, Eukaryota |
GeneTreei | ENSGT00390000008610 |
InParanoidi | O00258 |
OMAi | MACRRVI |
OrthoDBi | 1508713at2759 |
PhylomeDBi | O00258 |
TreeFami | TF314708 |
Enzyme and pathway databases
PathwayCommonsi | O00258 |
Reactomei | R-HSA-9609523, Insertion of tail-anchored proteins into the endoplasmic reticulum membrane |
Miscellaneous databases
BioGRID-ORCSi | 7485, 355 hits in 853 CRISPR screens |
ChiTaRSi | WRB, human |
GenomeRNAii | 7485 |
Pharosi | O00258, Tbio |
PROi | PR:O00258 |
RNActi | O00258, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000182093, Expressed in bronchial epithelial cell and 248 other tissues |
ExpressionAtlasi | O00258, baseline and differential |
Genevisiblei | O00258, HS |
Family and domain databases
InterProi | View protein in InterPro IPR028945, Get1 |
Pfami | View protein in Pfam PF04420, CHD5, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GET1_HUMAN | |
Accessioni | O00258Primary (citable) accession number: O00258 Secondary accession number(s): A8KAP8 O60740 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | December 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 144 of the entry and version 2 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
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations