AKCL1_HUMAN
ID AKCL1_HUMAN Reviewed; 129 AA.
AC Q5T2L2; A6NF66; Q6ZN81;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 22-SEP-2009, sequence version 2.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Putative aldo-keto reductase family 1 member C8 {ECO:0000305};
DE AltName: Full=Aldo-keto reductase family 1 member C-like protein 1;
DE EC=1.1.1.-;
GN Name=AKR1C8 {ECO:0000312|HGNC:HGNC:23469}; Synonyms=AKR1C8P, AKR1CL1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC Q5T2L2; P55212: CASP6; NbExp=3; IntAct=EBI-22006248, EBI-718729;
CC Q5T2L2; Q8NI60: COQ8A; NbExp=3; IntAct=EBI-22006248, EBI-745535;
CC Q5T2L2; P13473-2: LAMP2; NbExp=3; IntAct=EBI-22006248, EBI-21591415;
CC Q5T2L2; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-22006248, EBI-5280197;
CC Q5T2L2; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-22006248, EBI-2623095;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the aldo/keto reductase family. {ECO:0000305}.
CC -!- CAUTION: Could be the product of a pseudogene. Much shorter than
CC related proteins. {ECO:0000305}.
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DR EMBL; AK131335; BAD18494.1; -; mRNA.
DR EMBL; AL355303; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL391427; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC101204; AAI01205.1; -; mRNA.
DR EMBL; BC101205; AAI01206.1; -; mRNA.
DR AlphaFoldDB; Q5T2L2; -.
DR SMR; Q5T2L2; -.
DR IntAct; Q5T2L2; 6.
DR BioMuta; HGNC:23469; -.
DR MassIVE; Q5T2L2; -.
DR PaxDb; Q5T2L2; -.
DR PeptideAtlas; Q5T2L2; -.
DR PRIDE; Q5T2L2; -.
DR Antibodypedia; 82341; 27 antibodies from 11 providers.
DR Ensembl; ENST00000584929.7; ENSP00000496857.1; ENSG00000264006.8.
DR Ensembl; ENST00000650030.1; ENSP00000497014.1; ENSG00000264006.8.
DR GeneCards; AKR1C8P; -.
DR HGNC; HGNC:23469; AKR1C8.
DR HPA; ENSG00000264006; Group enriched (choroid plexus, epididymis, liver).
DR neXtProt; NX_Q5T2L2; -.
DR OpenTargets; ENSG00000264006; -.
DR VEuPathDB; HostDB:ENSG00000264006; -.
DR GeneTree; ENSGT00940000163184; -.
DR InParanoid; Q5T2L2; -.
DR PhylomeDB; Q5T2L2; -.
DR PathwayCommons; Q5T2L2; -.
DR Pharos; Q5T2L2; Tdark.
DR PRO; PR:Q5T2L2; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5T2L2; protein.
DR Bgee; ENSG00000264006; Expressed in right lobe of liver and 42 other tissues.
DR ExpressionAtlas; Q5T2L2; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0016491; F:oxidoreductase activity; IEA:UniProtKB-KW.
DR Gene3D; 3.20.20.100; -; 1.
DR InterPro; IPR020471; AKR.
DR InterPro; IPR018170; Aldo/ket_reductase_CS.
DR InterPro; IPR023210; NADP_OxRdtase_dom.
DR InterPro; IPR036812; NADP_OxRdtase_dom_sf.
DR Pfam; PF00248; Aldo_ket_red; 1.
DR PRINTS; PR00069; ALDKETRDTASE.
DR SUPFAM; SSF51430; SSF51430; 1.
DR PROSITE; PS00798; ALDOKETO_REDUCTASE_1; 1.
PE 5: Uncertain;
KW Cytoplasm; NADP; Oxidoreductase; Reference proteome.
FT CHAIN 1..129
FT /note="Putative aldo-keto reductase family 1 member C8"
FT /id="PRO_0000287879"
FT ACT_SITE 58
FT /note="Proton donor"
FT /evidence="ECO:0000250"
FT BINDING 16..25
FT /ligand="NADP(+)"
FT /ligand_id="ChEBI:CHEBI:58349"
FT /evidence="ECO:0000250"
FT BINDING 120
FT /ligand="substrate"
FT /evidence="ECO:0000250"
FT SITE 57
FT /note="Important for substrate specificity"
FT /evidence="ECO:0000250"
FT SITE 87
FT /note="Lowers pKa of active site Tyr"
FT /evidence="ECO:0000250"
FT VARIANT 50
FT /note="R -> H (in dbSNP:rs7097295)"
FT /id="VAR_032355"
SQ SEQUENCE 129 AA; 14588 MW; EE42253565182210 CRC64;
MMTDLKQSHS VRLNDGPFMP VLGFGTYAPD HTPKSQAAEA TKVAIDVGFR HIDSAYLYQN
EEEVGQAIWE KIADGTVKRE EIFYTIKLWA TFFRAELVHP ALERSLKKLG PDYVDLFIIH
VPFAMKGSS
