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Q96JD6 (AKCL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
1,5-anhydro-D-fructose reductase

Short name=AF reductase
EC=1.1.1.263
Alternative name(s):
Aldo-keto reductase family 1 member C-like protein 2
Aldo-keto reductase family 1 member E2
LoopADR
Testis-specific protein
Short name=hTSP
Gene names
Name:AKR1E2
Synonyms:AKR1CL2, AKRDC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length320 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol. Can also catalyze the reduction of various aldehydes and quinones By similarity. Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro).

Catalytic activity

1,5-anhydro-D-glucitol + NADP+ = 1,5-anhydro-D-fructose + NADPH.

Subcellular location

Cytoplasm Potential.

Tissue specificity

Testis-specific. Ref.1

Sequence similarities

Belongs to the aldo/keto reductase family.

Biophysicochemical properties

Kinetic parameters:

KM=6.1 µM for 9,10-phenanthrenequinone with NADPH as cofactor Ref.1

Vmax=0.42 nmol/min/mg enzyme towards 9,10-phenanthrenequinone with NADPH as cofactor

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   LigandNADP
   Molecular functionOxidoreductase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_function1,5-anhydro-D-fructose reductase activity

Inferred from electronic annotation. Source: UniProtKB-EC

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96JD6-1)

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: Q96JD6-2)

Also known as: HTSP2;

The sequence of this isoform differs from the canonical sequence as follows:
     194-250: Missing.
Isoform 3 (identifier: Q96JD6-3)

Also known as: HTSP1;

The sequence of this isoform differs from the canonical sequence as follows:
     194-250: Missing.
     307-307: I → M
     308-320: Missing.
Isoform 4 (identifier: Q96JD6-4)

Also known as: HTSP4;

The sequence of this isoform differs from the canonical sequence as follows:
     307-307: I → M
     308-320: Missing.
Isoform 5 (identifier: Q96JD6-5)

Also known as: HTSP3;

The sequence of this isoform differs from the canonical sequence as follows:
     154-251: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 3203201,5-anhydro-D-fructose reductase
PRO_0000287880

Regions

Nucleotide binding269 – 2779NADP By similarity

Sites

Active site401Proton donor By similarity
Binding site351NADP By similarity
Binding site1021Substrate By similarity
Binding site1931NADP By similarity
Site691Lowers pKa of active site Tyr By similarity

Natural variations

Alternative sequence154 – 25198Missing in isoform 5.
VSP_025614
Alternative sequence194 – 25057Missing in isoform 2 and isoform 3.
VSP_025615
Alternative sequence3071I → M in isoform 3 and isoform 4.
VSP_025616
Alternative sequence308 – 32013Missing in isoform 3 and isoform 4.
VSP_025617
Natural variant521C → G.
Corresponds to variant rs35429729 [ dbSNP | Ensembl ].
VAR_032356
Natural variant861K → R.
Corresponds to variant rs17133693 [ dbSNP | Ensembl ].
VAR_032357

Experimental info

Sequence conflict3121K → N in AAK58523. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 24, 2009. Version 2.
Checksum: A73E06225E7F15DD

FASTA32036,589
        10         20         30         40         50         60 
MGDIPAVGLS SWKASPGKVT EAVKEAIDAG YRHFDCAYFY HNEREVGAGI RCKIKEGAVR 

        70         80         90        100        110        120 
REDLFIATKL WCTCHKKSLV ETACRKSLKA LKLNYLDLYL IHWPMGFKPP HPEWIMSCSE 

       130        140        150        160        170        180 
LSFCLSHPRV QDLPLDESNM VIPSDTDFLD TWEAMEDLVI TGLVKNIGVS NFNHEQLERL 

       190        200        210        220        230        240 
LNKPGLRFKP LTNQIECHPY LTQKNLISFC QSRDVSVTAY RPLGGSCEGV DLIDNPVIKR 

       250        260        270        280        290        300 
IAKEHGKSPA QILIRFQIQR NVIVIPGSIT PSHIKENIQV FDFELTQHDM DNILSLNRNL 

       310        320 
RLAMFPITKN HKDYPFHIEY 

« Hide

Isoform 2 (HTSP2) [UniParc].

Checksum: 024E146FABDEBA9F
Show »

FASTA26330,323
Isoform 3 (HTSP1) [UniParc].

Checksum: 241A3E8125FDE258
Show »

FASTA25028,667
Isoform 4 (HTSP4) [UniParc].

Checksum: 4DEEDE07568D2F03
Show »

FASTA30734,933
Isoform 5 (HTSP3) [UniParc].

Checksum: 388A3D53CEA44BE4
Show »

FASTA22225,693

References

« Hide 'large scale' references
[1]"Human testis specific protein: a new member of aldo-keto reductase superfamily."
Nishinaka T., Azuma Y., Ushijima S., Miki T., Yabe-Nishimura C.
Chem. Biol. Interact. 143:299-305(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 5), BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY.
Tissue: Testis.
[2]"LoopADR: a novel human aldo-keto reductase."
Hyndman D.J., Li L., Flynn T.G.
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Small intestine.
[3]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORM 4).
Tissue: Lung.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB040820 mRNA. Translation: BAC54565.1.
AB040821 mRNA. Translation: BAC54566.1.
AB040822 mRNA. Translation: BAC54567.1.
AB055603 mRNA. Translation: BAC54568.1.
AF263242 mRNA. Translation: AAK58523.1.
AC091817 Genomic DNA. No translation available.
BC002862 mRNA. Translation: AAH02862.1.
CCDSCCDS31134.1. [Q96JD6-1]
CCDS59209.1. [Q96JD6-2]
CCDS59210.1. [Q96JD6-5]
RefSeqNP_001035267.1. NM_001040177.2. [Q96JD6-1]
NP_001257950.1. NM_001271021.1. [Q96JD6-2]
NP_001257954.1. NM_001271025.1. [Q96JD6-5]
UniGeneHs.657944.

3D structure databases

ProteinModelPortalQ96JD6.
SMRQ96JD6. Positions 4-317.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ96JD6.

Polymorphism databases

DMDM269849539.

Proteomic databases

PaxDbQ96JD6.
PRIDEQ96JD6.

Protocols and materials databases

DNASU83592.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000298375; ENSP00000298375; ENSG00000165568. [Q96JD6-1]
ENST00000334019; ENSP00000335034; ENSG00000165568. [Q96JD6-2]
ENST00000345253; ENSP00000335603; ENSG00000165568. [Q96JD6-5]
ENST00000463345; ENSP00000436794; ENSG00000165568. [Q96JD6-4]
ENST00000532248; ENSP00000432947; ENSG00000165568. [Q96JD6-3]
GeneID83592.
KEGGhsa:83592.
UCSCuc001ihi.4. human. [Q96JD6-1]
uc001ihk.4. human. [Q96JD6-2]
uc009xhw.4. human. [Q96JD6-5]

Organism-specific databases

CTD83592.
GeneCardsGC10P004829.
H-InvDBHIX0008606.
HGNCHGNC:23437. AKR1E2.
HPAHPA037822.
neXtProtNX_Q96JD6.
PharmGKBPA165548224.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0656.
HOGENOMHOG000250272.
HOVERGENHBG000020.
InParanoidQ96JD6.
KOK13981.
OMAMGDIPAV.
PhylomeDBQ96JD6.
TreeFamTF106492.

Enzyme and pathway databases

BioCycMetaCyc:MONOMER-17140.

Gene expression databases

ArrayExpressQ96JD6.
BgeeQ96JD6.
CleanExHS_AKR1CL2.
GenevestigatorQ96JD6.

Family and domain databases

Gene3D3.20.20.100. 1 hit.
InterProIPR001395. Aldo/ket_red.
IPR018170. Aldo/ket_reductase_CS.
IPR020471. Aldo/keto_reductase_subgr.
IPR023210. NADP_OxRdtase_dom.
[Graphical view]
PANTHERPTHR11732. PTHR11732. 1 hit.
PfamPF00248. Aldo_ket_red. 1 hit.
[Graphical view]
PIRSFPIRSF000097. AKR. 1 hit.
PRINTSPR00069. ALDKETRDTASE.
SUPFAMSSF51430. SSF51430. 1 hit.
PROSITEPS00798. ALDOKETO_REDUCTASE_1. 1 hit.
PS00062. ALDOKETO_REDUCTASE_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi83592.
NextBio72513.
PROQ96JD6.

Entry information

Entry nameAKCL2_HUMAN
AccessionPrimary (citable) accession number: Q96JD6
Secondary accession number(s): Q86Z16 expand/collapse secondary AC list , Q86Z17, Q86Z18, Q9BU71
Entry history
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: November 24, 2009
Last modified: July 9, 2014
This is version 93 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM