Q86YB7 (ECHD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Enoyl-CoA hydratase domain-containing protein 2, mitochondrial

Gene names

Name:

ECHDC2

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

General annotation (Comments)

Subcellular location	Mitochondrion Potential.
Sequence similarities	Belongs to the enoyl-CoA hydratase/isomerase family.

Ontologies

Keywords
Biological process	Fatty acid metabolism Lipid metabolism
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
Molecular function	Lyase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	fatty acid metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	lyase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q86YB7-1)

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 2 (identifier: Q86YB7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     122-152: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 35	35	Mitochondrion Potential
	Chain	36 – 292	257	Enoyl-CoA hydratase domain-containing protein 2, mitochondrial		PRO_0000309459
Sites
	Site	142	1	Important for catalytic activity By similarity
	Site	162	1	Important for catalytic activity By similarity
Natural variations
	Alternative sequence	122 – 152	31	Missing in isoform 2.		VSP_029177
	Natural variant	119	1	N → D. Ref.3 Corresponds to variant rs17854314 [ dbSNP | Ensembl ].		VAR_036951
Experimental info
	Sequence conflict	89	1	V → A in BAA91922. Ref.1
	Sequence conflict	247	1	D → N in BAA91922. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 13, 2007. Version 2. Checksum: 23D76881378D5CDD	FASTA	292	31,126
	10 20 30 40 50 60 MLRVLCLLRP WRPLRARGCA SDGAAGGSEI QVRALAGPDQ GITEILMNRP SARNALGNVF 70 80 90 100 110 120 VSELLETLAQ LREDRQVRVL LFRSGVKGVF CAGADLKERE QMSEAEVGVF VQRLRGLMND 130 140 150 160 170 180 IAAFPAPTIA AMDGFALGGG LELALACDLR VAASSAVMGL IETTRGLLPG AGGTQRLPRC 190 200 210 220 230 240 LGVALAKELI FTGRRLSGTE AHVLGLVNHA VAQNEEGDAA YQRARALAQE ILPQAPIAVR 250 260 270 280 290 LGKVAIDRGT EVDIASGMAI EGMCYAQNIP TRDRLEGMAA FREKRTPKFV GK
	Isoform 2 [UniParc]. Checksum: AC33433401F087F3	FASTA	261	28,141
	10 20 30 40 50 60 MLRVLCLLRP WRPLRARGCA SDGAAGGSEI QVRALAGPDQ GITEILMNRP SARNALGNVF 70 80 90 100 110 120 VSELLETLAQ LREDRQVRVL LFRSGVKGVF CAGADLKERE QMSEAEVGVF VQRLRGLMND 130 140 150 160 170 180 IASSAVMGLI ETTRGLLPGA GGTQRLPRCL GVALAKELIF TGRRLSGTEA HVLGLVNHAV 190 200 210 220 230 240 AQNEEGDAAY QRARALAQEI LPQAPIAVRL GKVAIDRGTE VDIASGMAIE GMCYAQNIPT 250 260 RDRLEGMAAF REKRTPKFVG K

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Placenta.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] (ISOFORM 1), VARIANT ASP-119. Tissue: Brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK001810 mRNA. Translation: BAA91922.1. CH471059 Genomic DNA. Translation: EAX06763.1. CH471059 Genomic DNA. Translation: EAX06768.1. BC044574 mRNA. Translation: AAH44574.1.
IPI	IPI00019485. IPI00384676.
RefSeq	NP_001185890.1. NM_001198961.1. NP_060751.2. NM_018281.3.
UniGene	Hs.476319.
3D structure databases
HSSP	HSSP built from PDB template 1HZD based on UniProtKB Q13825.
ProteinModelPortal	Q86YB7.
SMR	Q86YB7. Positions 28-292.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q86YB7. 2 interactions.
STRING	Q86YB7.
PTM databases
PhosphoSite	Q86YB7.
Polymorphism databases
DMDM	160380686.
Proteomic databases
PRIDE	Q86YB7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000371522; ENSP00000360577; ENSG00000121310.
GeneID	55268.
KEGG	hsa:55268.
NMPDR	fig|9606.3.peg.1179.
UCSC	uc001cup.2. human.
Organism-specific databases
CTD	55268.
GeneCards	GC01M053361.
HGNC	HGNC:23408. ECHDC2.
HPA	HPA026731. HPA026768.
neXtProt	NX_Q86YB7.
PharmGKB	PA134913726.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG748731.
HOVERGEN	HBG106714.
InParanoid	Q86YB7.
OMA	RPPKFVG.
OrthoDB	EOG48D0W4.
PhylomeDB	Q86YB7.
Gene expression databases
ArrayExpress	Q86YB7.
Bgee	Q86YB7.
CleanEx	HS_ECHDC2.
Genevestigator	Q86YB7.
Family and domain databases
InterPro	IPR014748. Crontonase_C. IPR001753. Crotonase_core. IPR018376. Enoyl-CoA_hyd/isom_CS. [Graphical view]
Gene3D	G3DSA:1.10.12.10. Crontonase_C. 1 hit.
Pfam	PF00378. ECH. 1 hit. [Graphical view]
PROSITE	PS00166. ENOYL_COA_HYDRATASE. 1 hit. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

ECHD2_HUMAN

Accession

Primary (citable) accession number: Q86YB7
Secondary accession number(s): D3DQ36, Q9NV38

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 13, 2007
Last sequence update:	November 13, 2007
Last modified:	January 25, 2012
This is version 62 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.