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UniProtKB/Swiss-Prot entry Q8IWW8


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name HOT_HUMAN
Primary accession number Q8IWW8
Secondary accession numbers Q49A19 Q68CI7 Q6P2B6 Q96MF9
Integrated into Swiss-Prot on March 18, 2008
Sequence was last modified on March 1, 2003 (Sequence version 1)
Annotations were last modified on    December 16, 2008 (Entry version 34)
Name and origin of the protein
Protein name Hydroxyacid-oxoacid transhydrogenase, mitochondrial [Precursor]
Synonyms HOT
EC 1.1.99.24
Fe-containing alcohol dehydrogenase
Alcohol dehydrogenase iron-containing protein 1
ADHFe1
Gene name
Name: ADHFE1
ORFNames: HMFT2263
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
TISSUE=Fetal brain;
DOI=10.1080/1042517021000011636; PubMed=12592711 [NCBI, ExPASy, EBI, Israel, Japan]
Deng Y., Wang Z., Gu S., Ji C., Ying K., Xie Y., Mao Y.;
"Cloning and characterization of a novel human alcohol dehydrogenase gene (ADHFe1).";
DNA Seq. 13:301-306(2002).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ARG-449.
TISSUE=Skeletal muscle;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
TISSUE=Brain, and Pancreas;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 415-467, AND VARIANT ARG-449.
TISSUE=Hepatoblastoma;
DOI=10.1038/sj.onc.1207782; PubMed=15221005 [NCBI, ExPASy, EBI, Israel, Japan]
Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.;
"Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.";
Oncogene 23:5901-5911(2004).
[6]
FUNCTION, SUBSTRATE SPECIFICITY, CATALYTIC ACTIVITY, AND BIOPHYSICOCHEMICAL PROPERTIES.
DOI=10.1007/s10545-005-0114-x; PubMed=16435184 [NCBI, ExPASy, EBI, Israel, Japan]
Struys E.A., Verhoeven N.M., Ten Brink H.J., Wickenhagen W.V., Gibson K.M., Jakobs C.;
"Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias.";
J. Inherit. Metab. Dis. 28:921-930(2005).
[7]
VARIANT [LARGE SCALE ANALYSIS] VAL-242.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AY033237; AAK44223.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK056992; BAB71335.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CH471068; EAW86902.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CH471068; EAW86907.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC047492; AAH47492.1; ALT_FRAME; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC064634; AAH64634.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB075879; BAD38661.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_653251.2; -.
UniGene Hs.268869
3D structure databases
ModBase Q8IWW8.
PTM databases
PhosphoSite Q8IWW8; -.
Organism-specific databases
GeneCards GC08P067507; -.
HGNC HGNC:16354; ADHFE1.
GenAtlas ADHFE1.
MIM 611083; gene. [NCBI / EBI]
PharmGKB PA134871493; -.
GeneCards Q8IWW8.
Gene expression databases
ArrayExpress Q8IWW8; -.
CleanEx HS_ADHFE1; -.
Ontologies
GO
GO:0005739; Cellular component: mitochondrion (inferred from sequence or structural similarity from UniProtKB).
GO:0047988; Molecular function: hydroxyacid-oxoacid transhydrogenase activity (inferred from direct assay from UniProtKB).
GO:0046872; Molecular function: metal ion binding (inferred from electronic annotation from InterPro).
GO:0015993; Biological process: molecular hydrogen transport (inferred from direct assay from UniProtKB).
GO:0055114; Biological process: oxidation reduction (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR001670; Fe_AlcDHase.
Graphical view of domain structure.
Pfam PF00465; Fe-ADH; 1.
Pfam graphical view of domain structure.
PROSITE PS00913; ADH_IRON_1; FALSE_NEG.
PS00060; ADH_IRON_2; FALSE_NEG.
Proteomics databases
PRIDE Q8IWW8; -.
Genome annotation databases
Ensembl ENSG00000147576; Homo sapiens. [Contig view]
GeneID 137872; -.
KEGG hsa:137872; -.
Phylogenomic databases
HOGENOM Q8IWW8; -.
HOVERGEN Q8IWW8; -.
Other
NextBio 83689; -.
SOURCE ADHFE1; Homo sapiens.
ProtoNet Q8IWW8.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Mitochondrion; Oxidoreductase; Polymorphism; Transit peptide.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
TRANSIT   1     ?        Mitochondrion (Potential). 
CHAIN   ?   467        Hydroxyacid-oxoacid transhydrogenase, mitochondrial. PRO_0000322996
VAR_SEQ   1    48        Missing (in isoform 2 and isoform 4). VSP_031984
VAR_SEQ   299   303        RNPDD -> NSTDK (in isoform 3 and isoform 4). VSP_031985
VAR_SEQ   304   467        Missing (in isoform 3 and isoform 4). VSP_031986
VARIANT   242   242  1     D -> V (in a breast cancer sample; somatic mutation). VAR_039470 
VARIANT   449   449  1     C -> R (in dbSNP:rs1060242 [NCBI]). VAR_054015 
CONFLICT   141   141        S -> C (in Ref. 4; AAH47492). 
Sequence information
Length: 467 AA [This is the length of the unprocessed precursor] Molecular weight: 50308 Da [This is the MW of the unprocessed precursor] CRC64: C66E0EB15610A0E3 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAAAARARVA YLLRQLQRAA CQCPTHSHTY SQAPGLSPSG KTTDYAFEMA VSNIRYGAAV 

        70         80         90        100        110        120 
TKEVGMDLKN MGAKNVCLMT DKNLSKLPPV QVAMDSLVKN GIPFTVYDNV RVEPTDSSFM 

       130        140        150        160        170        180 
EAIEFAQKGA FDAYVAVGGG STMDTCKAAN LYASSPHSDF LDYVSAPIGK GKPVSVPLKP 

       190        200        210        220        230        240 
LIAVPTTSGT GSETTGVAIF DYEHLKVKIG ITSRAIKPTL GLIDPLHTLH MPARVVANSG 

       250        260        270        280        290        300 
FDVLCHALES YTTLPYHLRS PCPSNPITRP AYQGSNPISD IWAIHALRIV AKYLKRAVRN 

       310        320        330        340        350        360 
PDDLEARSHM HLASAFAGIG FGNAGVHLCH GMSYPISGLV KMYKAKDYNV DHPLVPHGLS 

       370        380        390        400        410        420 
VVLTSPAVFT FTAQMFPERH LEMAEILGAD TRTARIQDAG LVLADTLRKF LFDLDVDDGL 

       430        440        450        460 
AAVGYSKADI PALVKGTLPQ ERVTKLAPCP QSEEDLAALF EASMKLY 

Q8IWW8 in FASTA format

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