Reviewed, UniProtKB/Swiss-Prot P30042 (ES1_HUMAN)

Names and origin

Protein names

Recommended name:
    ES1 protein homolog, mitochondrial
Alternative name(s):
    Protein KNP-I
    Protein GT335

Gene names

Name:	C21orf33
Synonyms:	HES1, KNPI

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	268 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subcellular location	Mitochondrion Potential.
Tissue specificity	Ubiquitous, but strongly expressed in heart and skeletal muscle.
Sequence similarities	Belongs to the ES1 family.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
PTM	Acetylation
Technical term	Direct protein sequencing
Gene Ontology (GO)
Cellular component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: P30042-1)

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.

Isoform Short (identifier: P30042-2)

Also known as: KNP-IB;

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 41	41	Mitochondrion Ref.9
	Chain	42 – 268	227	ES1 protein homolog, mitochondrial		PRO_0000008544
Amino acid modifications
	Modified residue	219	1	N6-acetyllysine By similarity
Natural variations
	Alternative sequence	144 – 174	31	Missing in isoform Short.		VSP_001454
	Natural variant	6	1	V → A: dbSNP rs968714. Ref.1 Ref.2 Ref.3 Ref.5		VAR_027920
	Natural variant	148	1	V → M: dbSNP rs17264865.		VAR_027921
	Natural variant	248	1	L → V: dbSNP rs2838497.		VAR_020441
Experimental info
	Sequence conflict	213	1	I → M in CAA68857. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified October 17, 2006. Version 3. Checksum: FCDE084D43173330	FASTA	268	28,170
	10 20 30 40 50 60 MAAVRVLVAS RLAAASAFTS LSPGGRTPSQ RAALHLSVPR PAARVALVLS GCGVYDGTEI 70 80 90 100 110 120 HEASAILVHL SRGGAEVQIF APDVPQMHVI DHTKGQPSEG ESRNVLTESA RIARGKITDL 130 140 150 160 170 180 ANLSAANHDA AIFPGGFGAA KNLSTFAVDG KDCKVNKEVE RVLKEFHQAG KPIGLCCIAP 190 200 210 220 230 240 VLAAKVLRGV EVTVGHEQEE GGKWPYAGTA EAIKALGAKH CVKEVVEAHV DQKNKVVTTP 250 260 AFMCETALHY IHDGIGAMVR KVLELTGK
	Isoform Short (KNP-IB). Checksum: E86ADBAE4C96425E	FASTA	237	24,758
	10 20 30 40 50 60 MAAVRVLVAS RLAAASAFTS LSPGGRTPSQ RAALHLSVPR PAARVALVLS GCGVYDGTEI 70 80 90 100 110 120 HEASAILVHL SRGGAEVQIF APDVPQMHVI DHTKGQPSEG ESRNVLTESA RIARGKITDL 130 140 150 160 170 180 ANLSAANHDA AIFPGGFGAA KNLLCCIAPV LAAKVLRGVE VTVGHEQEEG GKWPYAGTAE 190 200 210 220 230 AIKALGAKHC VKEVVEAHVD QKNKVVTTPA FMCETALHYI HDGIGAMVRK VLELTGK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 8753807] [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: 8975701] [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: 9150728] [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: 10830953] [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: 15489334] [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: 9205129] [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, 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: 1286669] [Abstract] Cited for: PROTEIN SEQUENCE OF 42-54. Tissue: Liver.
[10]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00024913. IPI00218482.
PIR	JC4913. JC4914.
RefSeq	NP_004640.2. NP_937798.2.
UniGene	Hs.413482
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P30042. 1 interaction.
PTM databases
PhosphoSite	P30042.
2-D gel databases
SWISS-2DPAGE	P30042.
OGP	P30042.
REPRODUCTION-2DPAGE	IPI00024913.
Siena-2DPAGE	P30042.
Proteomic databases
PRIDE	P30042.
Genome annotation databases
Ensembl	ENSG00000160221. Homo sapiens. [Contig view]
GeneID	8209.
KEGG	hsa:8209.
Organism-specific databases
GeneCards	GC21P044377.
H-InvDB	HIX0016163.
HGNC	HGNC:1273. C21orf33.
MIM	601659. gene.
PharmGKB	PA25828.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P30042.
OMA	P30042. QCFAPDI.
Gene expression databases
ArrayExpress	P30042.
Bgee	P30042.
CleanEx	HS_HES1.
GermOnline	ENSG00000160221. Homo sapiens.
Family and domain databases
InterPro	IPR002818. ThiJ/PfpI. [Graphical view]
Pfam	PF01965. DJ-1_PfpI. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	30923.
SOURCE	Search...

Entry information

Entry name

ES1_HUMAN

Accession

Primary (citable) accession number: P30042
Secondary accession number(s): A6NFJ6 , A6NJY7, O00650, O00660, O15011, O15012, P55346, P78474, Q92505, Q92507

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1993
Last sequence update:	October 17, 2006
Last modified:	June 16, 2009
This is version 90 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)