Reviewed, UniProtKB/Swiss-Prot Q5RF11 (HOT_PONAB)

Names and origin

Protein names

Recommended name:
    Hydroxyacid-oxoacid transhydrogenase, mitochondrial
      Short name=HOT
    EC=1.1.99.24
Alternative name(s):
    Alcohol dehydrogenase iron-containing protein 1

Gene names

Name:

ADHFE1

Organism

Pongo abelii (Sumatran orangutan)

Taxonomic identifier

9601 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	467 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)

Function	Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). L-3-hydroxybutyrate (L-3-OHB) is also a substrate for HOT when using 2-KG as hydrogen acceptor, resulting in the formation of D-2-HG By similarity.
Catalytic activity	(S)-3-hydroxybutanoate + 2-oxoglutarate = acetoacetate + (R)-2-hydroxyglutarate. 2-oxoglutaric acid + 4-hydroxybutanoic acid = (R)-2-hydroxyglutaric acid + succinic semialdehyde.
Subcellular location	MitochondrionBy similarity.
Sequence similarities	Belongs to the iron-containing alcohol dehydrogenase family. Hydroxyacid-oxoacid transhydrogenase subfamily.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing
Domain	Transit peptide
Molecular function	Oxidoreductase
Gene Ontology (GO)
Biological process	molecular hydrogen transport Inferred from sequence or structural similarity. Source: UniProtKB oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrion Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	hydroxyacid-oxoacid transhydrogenase activity Inferred from sequence or structural similarity. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q5RF11-1)

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: Q5RF11-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – ?		Mitochondrion Potential
	Chain	? – 467		Hydroxyacid-oxoacid transhydrogenase, mitochondrial		PRO_0000322998
Natural variations
	Alternative sequence	1 – 48	48	Missing in isoform 2.		VSP_031988
Experimental info
	Sequence conflict	60	1	V → A in CAH91375. Ref.1
	Sequence conflict	147	1	M → K in CAH93025 and CAH91375. Ref.1
	Sequence conflict	163	1	Y → H in CAH93025. Ref.1
	Sequence conflict	254	1	L → P in CAH91375. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 21, 2004. Version 1. Checksum: CFC3D34BF6F65B6C	FASTA	467	50,260
	10 20 30 40 50 60 MAAASRARVA YLLRQLQRAA CQCPTHSHTY SQAPGLSPSG KTTDYAFEMA VSNIRYGAGV 70 80 90 100 110 120 TKEVGMDLQN MGAKNVCLMT DKNLSKLPPV QVAMDSLVKN GIPFTVYDNV RVEPTDASFM 130 140 150 160 170 180 EAIEFAQKGA FDAYVAVGGG STMDTCMAAN LYASSPHSDF LDYVSAPIGK GKPVSVPLKP 190 200 210 220 230 240 LIAVPTTSGT GSETTGVAIF DYEHLKVKIG IASRAIKPTL GLIDPLHTLH MPARVVANSG 250 260 270 280 290 300 FDVLCHALES YTTLPYHLRS PCPSNPITRP AYQGSNPISD IWAIHALRIV AKYLKRAVRN 310 320 330 340 350 360 PDDLEARSHM HLASAFAGIG FGNAGVHLCH GMSYPISGLV KTYKAKDYNV DHPLVPHGLS 370 380 390 400 410 420 VVLTSPAVFT FTAQMFPERH LETAEILGAD TRTARIQDAG LVLADTLRKF LFDLDVDDGL 430 440 450 460 AAVGYSKADI PALVKGTLPQ ERVTKLAPRP QSEEDLAALF EASMKLY
	Isoform 2 [UniParc]. Checksum: 758E9643446872B6		419	45,065
	10 20 30 40 50 60 MAVSNIRYGA GVTKEVGMDL QNMGAKNVCL MTDKNLSKLP PVQVAMDSLV KNGIPFTVYD 70 80 90 100 110 120 NVRVEPTDAS FMEAIEFAQK GAFDAYVAVG GGSTMDTCMA ANLYASSPHS DFLDYVSAPI 130 140 150 160 170 180 GKGKPVSVPL KPLIAVPTTS GTGSETTGVA IFDYEHLKVK IGIASRAIKP TLGLIDPLHT 190 200 210 220 230 240 LHMPARVVAN SGFDVLCHAL ESYTTLPYHL RSPCPSNPIT RPAYQGSNPI SDIWAIHALR 250 260 270 280 290 300 IVAKYLKRAV RNPDDLEARS HMHLASAFAG IGFGNAGVHL CHGMSYPISG LVKTYKAKDY 310 320 330 340 350 360 NVDHPLVPHG LSVVLTSPAV FTFTAQMFPE RHLETAEILG ADTRTARIQD AGLVLADTLR 370 380 390 400 410 KFLFDLDVDD GLAAVGYSKA DIPALVKGTL PQERVTKLAP RPQSEEDLAA LFEASMKLY

References

[1]	The German cDNA consortium Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Kidney.

Cross-references

Sequence databases
EMBLGenBankDDBJ	CR857350 mRNA. Translation: CAH89646.1. CR859187 mRNA. Translation: CAH91375.1. CR860920 mRNA. Translation: CAH93025.1.
RefSeq	NP_001127410.1.
3D structure databases
ModBase	Search...
Genome annotation databases
GeneID	100174480.
Phylogenomic databases
HOVERGEN	Q5RF11.
Family and domain databases
InterPro	IPR001670. Fe_AlcDHase. [Graphical view]
Pfam	PF00465. Fe-ADH. 1 hit. [Graphical view]
PROSITE	PS00913. ADH_IRON_1. False negative. PS00060. ADH_IRON_2. False negative. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

HOT_PONAB

Accession

Primary (citable) accession number: Q5RF11
Secondary accession number(s): Q5R5E1, Q5RA35

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 18, 2008
Last sequence update:	December 21, 2004
Last modified:	November 25, 2008
This is version 18 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)