GET1

Protein identityUniProt · HPA

UniProt accession

O00258

Gene

GET1

Ensembl

ENSG00000182093

Chromosome

21

Canonical length

174 aa

Protein class

Predicted intracellular proteins, Predicted membrane proteins, Transporters

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

174 residues, UniProt reviewed canonical sequence.

>O00258|GET1
     1  MSSAAADHWA WLLVLSFVFG CNVLRILLPS FSSFMSRVLQ KDAEQESQMR AEIQDMKQEL
    61  STVNMMDEFA RYARLERKIN KMTDKLKTHV KARTAQLAKI KWVISVAFYV LQAALMISLI
   121  WKYYSVPVAV VPSKWITPLD RLVAFPTRVA GGVGITCWIL VCNKVVAIVL HPFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GET1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

3

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

135 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.16

gnomAD pLI

1

DepMap mean gene effect

-0.29

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• establishment of localization in cell
• otic vesicle development
• post-translational protein targeting to endoplasmic reticulum membrane
• protein insertion into ER membrane
• protein stabilization
• sensory perception of sound
• synapse organization
• tail-anchored membrane protein insertion into ER membrane

Molecular functions

• protein-membrane adaptor activity

Cellular components

• endoplasmic reticulum membrane
• GET complex
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Helix hairpin bin domain superfamily
• Get1 family
• CHD5-like protein

KeywordsUniProt

• Coiled coil
• Endoplasmic reticulum
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of GET1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CAMLG