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Protein

ES1 protein homolog, mitochondrial

Gene

C21orf33

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

HGNCiHGNC:1273. C21orf33.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25828.

Polymorphism and mutation databases

BioMutaiC21orf33.
DMDMi116241354.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4141MitochondrionCombined sources1 PublicationAdd
BLAST
Chaini42 – 268227ES1 protein homolog, mitochondrialPRO_0000008544Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei151 – 1511N6-acetyllysineBy similarity
Modified residuei157 – 1571N6-acetyllysineBy similarity
Modified residuei164 – 1641N6-acetyllysineBy similarity
Modified residuei203 – 2031N6-acetyllysine; alternateBy similarity
Modified residuei203 – 2031N6-succinyllysine; alternateBy similarity
Modified residuei219 – 2191N6-acetyllysineBy similarity
Modified residuei223 – 2231N6-acetyllysine; alternateBy similarity
Modified residuei223 – 2231N6-succinyllysine; alternateBy similarity
Modified residuei233 – 2331N6-acetyllysine; alternateBy similarity
Modified residuei233 – 2331N6-succinyllysine; alternateBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP30042.
MaxQBiP30042.
PaxDbiP30042.
PRIDEiP30042.
TopDownProteomicsiP30042-1. [P30042-1]
P30042-2. [P30042-2]

2D gel databases

OGPiP30042.
REPRODUCTION-2DPAGEIPI00024913.
SWISS-2DPAGEP30042.
UCD-2DPAGEP30042.

PTM databases

iPTMnetiP30042.
PhosphoSiteiP30042.
SwissPalmiP30042.

Expressioni

Tissue specificityi

Ubiquitous, but strongly expressed in heart and skeletal muscle.

Gene expression databases

BgeeiP30042.
CleanExiHS_HES1.
ExpressionAtlasiP30042. baseline and differential.
GenevisibleiP30042. HS.

Organism-specific databases

HPAiHPA018517.

Interactioni

Protein-protein interaction databases

BioGridi113847. 4 interactions.
IntActiP30042. 3 interactions.
MINTiMINT-1423060.
STRINGi9606.ENSP00000291577.

Structurei

3D structure databases

ProteinModelPortaliP30042.
SMRiP30042. Positions 44-265.
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.
OrthoDBiEOG77M8PJ.
PhylomeDBiP30042.
TreeFamiTF329408.

Family and domain databases

Gene3Di3.40.50.880. 1 hit.
InterProiIPR029062. Class_I_gatase-like.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti213 – 2131I → M in CAA68857 (PubMed:9150728).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61V → A.4 Publications
Corresponds to variant rs968714 [ dbSNP | Ensembl ].
VAR_027920
Natural varianti148 – 1481V → M.
Corresponds to variant rs17264865 [ dbSNP | Ensembl ].
VAR_027921
Natural varianti248 – 2481L → V.
Corresponds to variant rs2838497 [ dbSNP | Ensembl ].
VAR_020441

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei144 – 17431Missing in isoform Short. CuratedVSP_001454Add
BLAST

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.
NP_937798.4. NM_198155.4.
XP_006723964.1. XM_006723901.2.
XP_006723966.1. XM_006723903.2.
XP_011507206.1. XM_011508904.1.
XP_011507208.1. XM_011508906.1.
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

Cross-referencesi

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.
NP_937798.4. NM_198155.4.
XP_006723964.1. XM_006723901.2.
XP_006723966.1. XM_006723903.2.
XP_011507206.1. XM_011508904.1.
XP_011507208.1. XM_011508906.1.
UniGeneiHs.413482.

3D structure databases

ProteinModelPortaliP30042.
SMRiP30042. Positions 44-265.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113847. 4 interactions.
IntActiP30042. 3 interactions.
MINTiMINT-1423060.
STRINGi9606.ENSP00000291577.

Protein family/group databases

MEROPSiC56.975.

PTM databases

iPTMnetiP30042.
PhosphoSiteiP30042.
SwissPalmiP30042.

Polymorphism and mutation databases

BioMutaiC21orf33.
DMDMi116241354.

2D gel databases

OGPiP30042.
REPRODUCTION-2DPAGEIPI00024913.
SWISS-2DPAGEP30042.
UCD-2DPAGEP30042.

Proteomic databases

EPDiP30042.
MaxQBiP30042.
PaxDbiP30042.
PRIDEiP30042.
TopDownProteomicsiP30042-1. [P30042-1]
P30042-2. [P30042-2]

Protocols and materials databases

DNASUi8209.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi8209.
GeneCardsiC21orf33.
H-InvDBHIX0016163.
HGNCiHGNC:1273. C21orf33.
HPAiHPA018517.
MIMi601659. gene.
neXtProtiNX_P30042.
PharmGKBiPA25828.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH62. Eukaryota.
COG3155. LUCA.
GeneTreeiENSGT00390000003706.
HOVERGENiHBG001844.
InParanoidiP30042.
OrthoDBiEOG77M8PJ.
PhylomeDBiP30042.
TreeFamiTF329408.

Miscellaneous databases

ChiTaRSiC21orf33. human.
GeneWikiiC21orf33.
NextBioi30923.
PROiP30042.
SOURCEiSearch...

Gene expression databases

BgeeiP30042.
CleanExiHS_HES1.
ExpressionAtlasiP30042. baseline and differential.
GenevisibleiP30042. HS.

Family and domain databases

Gene3Di3.40.50.880. 1 hit.
InterProiIPR029062. Class_I_gatase-like.
[Graphical view]
SUPFAMiSSF52317. SSF52317. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3."
    Nagamine K., Kudoh J., Minoshima S., Kawasaki K., Asakawa S., Ito F., Shimizu N.
    Biochem. Biophys. Res. Commun. 225:608-616(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-6.
    Tissue: Brain.
  2. "Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3."
    Lafreniere R.G., Rochefort D.L., Kibar Z., Fon E.A., Han F.-Y., Cochius J., Kang X., Baird S., Korneluk R.G., Andermann E., Rommens J.M., Rouleau G.A.
    Genomics 38:264-272(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-6.
  3. "Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3."
    Scott H.S., Chen H., Rossier C., Lalioti M.D., Antonarakis S.E.
    Hum. Genet. 99:616-623(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-6.
  4. "The DNA sequence of human chromosome 21."
    Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
    , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
    Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-6.
    Tissue: Lung.
  6. "Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21."
    Nagamine K., Kudoh J., Minoshima S., Kawasaki K., Asakawa S., Ito F., Shimizu N.
    Genomics 42:528-531(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-226.
  7. Lubec G., Vishwanath V.
    Submitted (MAR-2007) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 117-141, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Brain and Cajal-Retzius cell.
  8. Shimizu N.
    Submitted (JUN-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 144-174.
  9. "Human liver protein map: a reference database established by microsequencing and gel comparison."
    Hochstrasser D.F., Frutiger S., Paquet N., Bairoch A., Ravier F., Pasquali C., Sanchez J.-C., Tissot J.-D., Bjellqvist B., Vargas R., Appel R.D., Hughes G.J.
    Electrophoresis 13:992-1001(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 42-54.
    Tissue: Liver.
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  11. Cited for: CLEAVAGE OF TRANSIT PEPTIDE [LARGE SCALE ANALYSIS] AFTER PRO-41, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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 historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: October 17, 2006
Last modified: April 13, 2016
This is version 150 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.