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Protein

ES1 protein homolog, mitochondrial

Gene

C21orf33

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

Functioni

Protein family/group databases

MEROPSiC56.975

Names & Taxonomyi

Protein namesi
Recommended name:
ES1 protein homolog, mitochondrial
Alternative name(s):
Protein GT335
Protein KNP-I
Gene namesi
Name:C21orf33
Synonyms:HES1, KNPI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000160221.16
HGNCiHGNC:1273 C21orf33
MIMi601659 gene
neXtProtiNX_P30042

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi102724023
8209
OpenTargetsiENSG00000160221
PharmGKBiPA25828

Polymorphism and mutation databases

BioMutaiC21orf33
DMDMi116241354

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 41MitochondrionCombined sources1 PublicationAdd BLAST41
ChainiPRO_000000854442 – 268ES1 protein homolog, mitochondrialAdd BLAST227

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei151N6-acetyllysineBy similarity1
Modified residuei157N6-acetyllysineBy similarity1
Modified residuei164N6-acetyllysineBy similarity1
Modified residuei203N6-acetyllysine; alternateBy similarity1
Modified residuei203N6-succinyllysine; alternateBy similarity1
Modified residuei219N6-acetyllysineBy similarity1
Modified residuei223N6-acetyllysine; alternateBy similarity1
Modified residuei223N6-succinyllysine; alternateBy similarity1
Modified residuei233N6-acetyllysine; alternateBy similarity1
Modified residuei233N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP30042
MaxQBiP30042
PaxDbiP30042
PeptideAtlasiP30042
PRIDEiP30042
ProteomicsDBi54621
54622 [P30042-2]
TopDownProteomicsiP30042-1 [P30042-1]
P30042-2 [P30042-2]

2D gel databases

OGPiP30042
REPRODUCTION-2DPAGEiIPI00024913
SWISS-2DPAGEiP30042
UCD-2DPAGEiP30042

PTM databases

iPTMnetiP30042
PhosphoSitePlusiP30042
SwissPalmiP30042

Expressioni

Tissue specificityi

Ubiquitous, but strongly expressed in heart and skeletal muscle.

Gene expression databases

BgeeiENSG00000160221
CleanExiHS_HES1
ExpressionAtlasiP30042 baseline and differential
GenevisibleiP30042 HS

Organism-specific databases

HPAiHPA018517

Interactioni

Protein-protein interaction databases

BioGridi113847, 14 interactors
3195145, 4 interactors
IntActiP30042, 6 interactors
STRINGi9606.ENSP00000291577

Structurei

3D structure databases

ProteinModelPortaliP30042
SMRiP30042
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ES1 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IH62 Eukaryota
COG3155 LUCA
GeneTreeiENSGT00390000003706
HOVERGENiHBG001844
InParanoidiP30042
OrthoDBiEOG091G0KUH
PhylomeDBiP30042
TreeFamiTF329408

Family and domain databases

Gene3Di3.40.50.880, 1 hit
InterProiView protein in InterPro
IPR029062 Class_I_gatase-like
SUPFAMiSSF52317 SSF52317, 1 hit

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 Long (identifier: P30042-1) [UniParc]FASTAAdd to basket

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
MAAVRVLVAS RLAAASAFTS LSPGGRTPSQ RAALHLSVPR PAARVALVLS
60 70 80 90 100
GCGVYDGTEI HEASAILVHL SRGGAEVQIF APDVPQMHVI DHTKGQPSEG
110 120 130 140 150
ESRNVLTESA RIARGKITDL ANLSAANHDA AIFPGGFGAA KNLSTFAVDG
160 170 180 190 200
KDCKVNKEVE RVLKEFHQAG KPIGLCCIAP VLAAKVLRGV EVTVGHEQEE
210 220 230 240 250
GGKWPYAGTA EAIKALGAKH CVKEVVEAHV DQKNKVVTTP AFMCETALHY
260
IHDGIGAMVR KVLELTGK
Length:268
Mass (Da):28,170
Last modified:October 17, 2006 - v3
Checksum:iFCDE084D43173330
GO
Isoform Short (identifier: P30042-2) [UniParc]FASTAAdd to basket
Also known as: KNP-IB

The sequence of this isoform differs from the canonical sequence as follows:
     144-174: Missing.

Show »
Length:237
Mass (Da):24,758
Checksum:iE86ADBAE4C96425E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti213I → M in CAA68857 (PubMed:9150728).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0279206V → A4 PublicationsCorresponds to variant dbSNP:rs968714Ensembl.1
Natural variantiVAR_027921148V → M. Corresponds to variant dbSNP:rs17264865Ensembl.1
Natural variantiVAR_020441248L → V. Corresponds to variant dbSNP:rs2838497Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001454144 – 174Missing in isoform Short. CuratedAdd BLAST31

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D86061 mRNA Translation: BAA12984.1
D86062 mRNA Translation: BAA12985.1
U53003 mRNA Translation: AAC50937.1
U53007
, U53004, U53005, U53006 Genomic DNA Translation: AAC50938.1
Y07572 mRNA Translation: CAA68857.1
BC002370 mRNA Translation: AAH02370.1
BC003587 mRNA Translation: AAH03587.1
AP001753 Genomic DNA Translation: BAA95554.1
AB001517 Genomic DNA Translation: BAA21138.1
AB001517 Genomic DNA Translation: BAA21139.1
D86060 Genomic DNA Translation: BAA20888.1
CCDSiCCDS33580.1 [P30042-1]
CCDS33581.1 [P30042-2]
PIRiJC4913
JC4914
RefSeqiNP_004640.4, NM_004649.7 [P30042-1]
NP_937798.4, NM_198155.4 [P30042-2]
XP_006723964.1, XM_006723901.3
XP_006723966.1, XM_006723903.3
XP_011507206.1, XM_011508904.2
XP_011507208.1, XM_011508906.2
UniGeneiHs.413482

Genome annotation databases

EnsembliENST00000291577; ENSP00000291577; ENSG00000160221 [P30042-1]
ENST00000348499; ENSP00000344901; ENSG00000160221 [P30042-2]
GeneIDi102724023
8209
KEGGihsa:102724023
hsa:8209
UCSCiuc002zec.5 human [P30042-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiES1_HUMAN
AccessioniPrimary (citable) accession number: P30042
Secondary accession number(s): A6NFJ6
, A6NJY7, O00650, O00660, O15011, O15012, P55346, P78474, Q92505, Q92507
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: October 17, 2006
Last modified: June 20, 2018
This is version 162 of the entry and version 3 of the sequence. See 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, Direct protein sequencing, Reference proteome

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