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Q96JD6

- AKCL2_HUMAN

UniProt

Q96JD6 - AKCL2_HUMAN

Protein

1,5-anhydro-D-fructose reductase

Gene

AKR1E2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (24 Nov 2009)
      Previous versions | rss
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    Functioni

    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).By similarity

    Catalytic activityi

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

    Kineticsi

    1. KM=6.1 µM for 9,10-phenanthrenequinone with NADPH as cofactor1 Publication

    Vmax=0.42 nmol/min/mg enzyme towards 9,10-phenanthrenequinone with NADPH as cofactor1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei35 – 351NADPBy similarity
    Active sitei40 – 401Proton donorBy similarity
    Sitei69 – 691Lowers pKa of active site TyrBy similarity
    Binding sitei102 – 1021SubstrateBy similarity
    Binding sitei193 – 1931NADPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi269 – 2779NADPBy similarity

    GO - Molecular functioni

    1. 1,5-anhydro-D-fructose reductase activity Source: UniProtKB-EC

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    NADP

    Enzyme and pathway databases

    BioCyciMetaCyc:MONOMER-17140.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    1,5-anhydro-D-fructose reductase (EC:1.1.1.263)
    Short name:
    AF reductase
    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 namesi
    Name:AKR1E2
    Synonyms:AKR1CL2, AKRDC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23437. AKR1E2.

    Subcellular locationi

    Cytoplasm Curated

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165548224.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 3203201,5-anhydro-D-fructose reductasePRO_0000287880Add
    BLAST

    Proteomic databases

    PaxDbiQ96JD6.
    PRIDEiQ96JD6.

    PTM databases

    PhosphoSiteiQ96JD6.

    Expressioni

    Tissue specificityi

    Testis-specific.1 Publication

    Gene expression databases

    ArrayExpressiQ96JD6.
    BgeeiQ96JD6.
    CleanExiHS_AKR1CL2.
    GenevestigatoriQ96JD6.

    Organism-specific databases

    HPAiHPA037822.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96JD6.
    SMRiQ96JD6. Positions 4-317.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the aldo/keto reductase family.Curated

    Phylogenomic databases

    eggNOGiCOG0656.
    HOGENOMiHOG000250272.
    HOVERGENiHBG000020.
    InParanoidiQ96JD6.
    KOiK13981.
    OMAiMGDIPAV.
    PhylomeDBiQ96JD6.
    TreeFamiTF106492.

    Family and domain databases

    Gene3Di3.20.20.100. 1 hit.
    InterProiIPR001395. Aldo/ket_red.
    IPR018170. Aldo/ket_reductase_CS.
    IPR020471. Aldo/keto_reductase_subgr.
    IPR023210. NADP_OxRdtase_dom.
    [Graphical view]
    PANTHERiPTHR11732. PTHR11732. 1 hit.
    PfamiPF00248. Aldo_ket_red. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000097. AKR. 1 hit.
    PRINTSiPR00069. ALDKETRDTASE.
    SUPFAMiSSF51430. SSF51430. 1 hit.
    PROSITEiPS00798. ALDOKETO_REDUCTASE_1. 1 hit.
    PS00062. ALDOKETO_REDUCTASE_2. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96JD6-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MGDIPAVGLS SWKASPGKVT EAVKEAIDAG YRHFDCAYFY HNEREVGAGI    50
    RCKIKEGAVR REDLFIATKL WCTCHKKSLV ETACRKSLKA LKLNYLDLYL 100
    IHWPMGFKPP HPEWIMSCSE LSFCLSHPRV QDLPLDESNM VIPSDTDFLD 150
    TWEAMEDLVI TGLVKNIGVS NFNHEQLERL LNKPGLRFKP LTNQIECHPY 200
    LTQKNLISFC QSRDVSVTAY RPLGGSCEGV DLIDNPVIKR IAKEHGKSPA 250
    QILIRFQIQR NVIVIPGSIT PSHIKENIQV FDFELTQHDM DNILSLNRNL 300
    RLAMFPITKN HKDYPFHIEY 320
    Length:320
    Mass (Da):36,589
    Last modified:November 24, 2009 - v2
    Checksum:iA73E06225E7F15DD
    GO
    Isoform 2 (identifier: Q96JD6-2) [UniParc]FASTAAdd to Basket

    Also known as: HTSP2

    The sequence of this isoform differs from the canonical sequence as follows:
         194-250: Missing.

    Show »
    Length:263
    Mass (Da):30,323
    Checksum:i024E146FABDEBA9F
    GO
    Isoform 3 (identifier: Q96JD6-3) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:250
    Mass (Da):28,667
    Checksum:i241A3E8125FDE258
    GO
    Isoform 4 (identifier: Q96JD6-4) [UniParc]FASTAAdd to Basket

    Also known as: HTSP4

    The sequence of this isoform differs from the canonical sequence as follows:
         307-307: I → M
         308-320: Missing.

    Show »
    Length:307
    Mass (Da):34,933
    Checksum:i4DEEDE07568D2F03
    GO
    Isoform 5 (identifier: Q96JD6-5) [UniParc]FASTAAdd to Basket

    Also known as: HTSP3

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

    Show »
    Length:222
    Mass (Da):25,693
    Checksum:i388A3D53CEA44BE4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti312 – 3121K → N in AAK58523. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti52 – 521C → G.
    Corresponds to variant rs35429729 [ dbSNP | Ensembl ].
    VAR_032356
    Natural varianti86 – 861K → R.
    Corresponds to variant rs17133693 [ dbSNP | Ensembl ].
    VAR_032357

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei154 – 25198Missing in isoform 5. 1 PublicationVSP_025614Add
    BLAST
    Alternative sequencei194 – 25057Missing in isoform 2 and isoform 3. 1 PublicationVSP_025615Add
    BLAST
    Alternative sequencei307 – 3071I → M in isoform 3 and isoform 4. 2 PublicationsVSP_025616
    Alternative sequencei308 – 32013Missing in isoform 3 and isoform 4. 2 PublicationsVSP_025617Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS31134.1. [Q96JD6-1]
    CCDS59209.1. [Q96JD6-2]
    CCDS59210.1. [Q96JD6-5]
    RefSeqiNP_001035267.1. NM_001040177.2. [Q96JD6-1]
    NP_001257950.1. NM_001271021.1. [Q96JD6-2]
    NP_001257954.1. NM_001271025.1. [Q96JD6-5]
    UniGeneiHs.657944.

    Genome annotation databases

    EnsembliENST00000298375; ENSP00000298375; ENSG00000165568. [Q96JD6-1]
    ENST00000334019; ENSP00000335034; ENSG00000165568. [Q96JD6-2]
    ENST00000345253; ENSP00000335603; ENSG00000165568. [Q96JD6-5]
    ENST00000463345; ENSP00000436794; ENSG00000165568. [Q96JD6-4]
    ENST00000532248; ENSP00000432947; ENSG00000165568. [Q96JD6-3]
    GeneIDi83592.
    KEGGihsa:83592.
    UCSCiuc001ihi.4. human. [Q96JD6-1]
    uc001ihk.4. human. [Q96JD6-2]
    uc009xhw.4. human. [Q96JD6-5]

    Polymorphism databases

    DMDMi269849539.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS31134.1. [Q96JD6-1 ]
    CCDS59209.1. [Q96JD6-2 ]
    CCDS59210.1. [Q96JD6-5 ]
    RefSeqi NP_001035267.1. NM_001040177.2. [Q96JD6-1 ]
    NP_001257950.1. NM_001271021.1. [Q96JD6-2 ]
    NP_001257954.1. NM_001271025.1. [Q96JD6-5 ]
    UniGenei Hs.657944.

    3D structure databases

    ProteinModelPortali Q96JD6.
    SMRi Q96JD6. Positions 4-317.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q96JD6.

    Polymorphism databases

    DMDMi 269849539.

    Proteomic databases

    PaxDbi Q96JD6.
    PRIDEi Q96JD6.

    Protocols and materials databases

    DNASUi 83592.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298375 ; ENSP00000298375 ; ENSG00000165568 . [Q96JD6-1 ]
    ENST00000334019 ; ENSP00000335034 ; ENSG00000165568 . [Q96JD6-2 ]
    ENST00000345253 ; ENSP00000335603 ; ENSG00000165568 . [Q96JD6-5 ]
    ENST00000463345 ; ENSP00000436794 ; ENSG00000165568 . [Q96JD6-4 ]
    ENST00000532248 ; ENSP00000432947 ; ENSG00000165568 . [Q96JD6-3 ]
    GeneIDi 83592.
    KEGGi hsa:83592.
    UCSCi uc001ihi.4. human. [Q96JD6-1 ]
    uc001ihk.4. human. [Q96JD6-2 ]
    uc009xhw.4. human. [Q96JD6-5 ]

    Organism-specific databases

    CTDi 83592.
    GeneCardsi GC10P004829.
    H-InvDB HIX0008606.
    HGNCi HGNC:23437. AKR1E2.
    HPAi HPA037822.
    neXtProti NX_Q96JD6.
    PharmGKBi PA165548224.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0656.
    HOGENOMi HOG000250272.
    HOVERGENi HBG000020.
    InParanoidi Q96JD6.
    KOi K13981.
    OMAi MGDIPAV.
    PhylomeDBi Q96JD6.
    TreeFami TF106492.

    Enzyme and pathway databases

    BioCyci MetaCyc:MONOMER-17140.

    Miscellaneous databases

    GenomeRNAii 83592.
    NextBioi 72513.
    PROi Q96JD6.

    Gene expression databases

    ArrayExpressi Q96JD6.
    Bgeei Q96JD6.
    CleanExi HS_AKR1CL2.
    Genevestigatori Q96JD6.

    Family and domain databases

    Gene3Di 3.20.20.100. 1 hit.
    InterProi IPR001395. Aldo/ket_red.
    IPR018170. Aldo/ket_reductase_CS.
    IPR020471. Aldo/keto_reductase_subgr.
    IPR023210. NADP_OxRdtase_dom.
    [Graphical view ]
    PANTHERi PTHR11732. PTHR11732. 1 hit.
    Pfami PF00248. Aldo_ket_red. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000097. AKR. 1 hit.
    PRINTSi PR00069. ALDKETRDTASE.
    SUPFAMi SSF51430. SSF51430. 1 hit.
    PROSITEi PS00798. ALDOKETO_REDUCTASE_1. 1 hit.
    PS00062. ALDOKETO_REDUCTASE_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.

    Entry informationi

    Entry nameiAKCL2_HUMAN
    AccessioniPrimary (citable) accession number: Q96JD6
    Secondary accession number(s): Q86Z16
    , Q86Z17, Q86Z18, Q9BU71
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: November 24, 2009
    Last modified: October 1, 2014
    This is version 95 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3