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Q96JD6

- AKCL2_HUMAN

UniProt

Q96JD6 - AKCL2_HUMAN

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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

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
Complete GO annotation...

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-KW
  2. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

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

BgeeiQ96JD6.
CleanExiHS_AKR1CL2.
ExpressionAtlasiQ96JD6. baseline and differential.
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.
GeneTreeiENSGT00760000119041.
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

        10         20         30         40         50
MGDIPAVGLS SWKASPGKVT EAVKEAIDAG YRHFDCAYFY HNEREVGAGI
60 70 80 90 100
RCKIKEGAVR REDLFIATKL WCTCHKKSLV ETACRKSLKA LKLNYLDLYL
110 120 130 140 150
IHWPMGFKPP HPEWIMSCSE LSFCLSHPRV QDLPLDESNM VIPSDTDFLD
160 170 180 190 200
TWEAMEDLVI TGLVKNIGVS NFNHEQLERL LNKPGLRFKP LTNQIECHPY
210 220 230 240 250
LTQKNLISFC QSRDVSVTAY RPLGGSCEGV DLIDNPVIKR IAKEHGKSPA
260 270 280 290 300
QILIRFQIQR NVIVIPGSIT PSHIKENIQV FDFELTQHDM DNILSLNRNL
310 320
RLAMFPITKN HKDYPFHIEY
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.
GeneTreei ENSGT00760000119041.
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

Bgeei Q96JD6.
CleanExi HS_AKR1CL2.
ExpressionAtlasi Q96JD6. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 96 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