D42E1_HUMAN
ID D42E1_HUMAN Reviewed; 393 AA.
AC Q8WUS8; B2RDS1; Q9P0D1;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 29-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Short-chain dehydrogenase/reductase family 42E member 1 {ECO:0000303|PubMed:19027726};
DE EC=1.1.1.-;
GN Name=SDR42E1; ORFNames=HSPC105;
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 GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-383.
RC TISSUE=Mammary gland;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-383.
RC TISSUE=Urinary bladder;
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).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 295-393.
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [5]
RP NOMENCLATURE.
RX PubMed=19027726; DOI=10.1016/j.cbi.2008.10.040;
RA Persson B., Kallberg Y., Bray J.E., Bruford E., Dellaporta S.L.,
RA Favia A.D., Duarte R.G., Joernvall H., Kavanagh K.L., Kedishvili N.,
RA Kisiela M., Maser E., Mindnich R., Orchard S., Penning T.M., Thornton J.M.,
RA Adamski J., Oppermann U.;
RT "The SDR (short-chain dehydrogenase/reductase and related enzymes)
RT nomenclature initiative.";
RL Chem. Biol. Interact. 178:94-98(2009).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the 3-beta-HSD family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=EAW95521.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; CH471114; EAW95521.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AK315652; BAG38018.1; -; mRNA.
DR EMBL; BC019670; AAH19670.1; -; mRNA.
DR EMBL; AF161368; AAF28928.1; -; mRNA.
DR CCDS; CCDS42205.1; -.
DR RefSeq; NP_660151.2; NM_145168.2.
DR RefSeq; XP_005256314.1; XM_005256257.3.
DR AlphaFoldDB; Q8WUS8; -.
DR SMR; Q8WUS8; -.
DR BioGRID; 125032; 1.
DR IntAct; Q8WUS8; 1.
DR STRING; 9606.ENSP00000332407; -.
DR iPTMnet; Q8WUS8; -.
DR PhosphoSitePlus; Q8WUS8; -.
DR BioMuta; SDR42E1; -.
DR DMDM; 187661956; -.
DR MassIVE; Q8WUS8; -.
DR PaxDb; Q8WUS8; -.
DR PeptideAtlas; Q8WUS8; -.
DR PRIDE; Q8WUS8; -.
DR ProteomicsDB; 74705; -.
DR Antibodypedia; 3063; 22 antibodies from 13 providers.
DR DNASU; 93517; -.
DR Ensembl; ENST00000328945.7; ENSP00000332407.4; ENSG00000184860.10.
DR GeneID; 93517; -.
DR KEGG; hsa:93517; -.
DR MANE-Select; ENST00000328945.7; ENSP00000332407.4; NM_145168.3; NP_660151.2.
DR UCSC; uc002fgu.4; human.
DR CTD; 93517; -.
DR DisGeNET; 93517; -.
DR GeneCards; SDR42E1; -.
DR HGNC; HGNC:29834; SDR42E1.
DR HPA; ENSG00000184860; Tissue enhanced (skin).
DR MIM; 616164; gene.
DR neXtProt; NX_Q8WUS8; -.
DR OpenTargets; ENSG00000184860; -.
DR PharmGKB; PA164725636; -.
DR VEuPathDB; HostDB:ENSG00000184860; -.
DR eggNOG; KOG1430; Eukaryota.
DR GeneTree; ENSGT00940000158070; -.
DR InParanoid; Q8WUS8; -.
DR OMA; GAYKRSK; -.
DR OrthoDB; 992332at2759; -.
DR PhylomeDB; Q8WUS8; -.
DR TreeFam; TF313574; -.
DR PathwayCommons; Q8WUS8; -.
DR SignaLink; Q8WUS8; -.
DR BioGRID-ORCS; 93517; 4 hits in 1064 CRISPR screens.
DR GenomeRNAi; 93517; -.
DR Pharos; Q8WUS8; Tdark.
DR PRO; PR:Q8WUS8; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q8WUS8; protein.
DR Bgee; ENSG00000184860; Expressed in upper leg skin and 98 other tissues.
DR ExpressionAtlas; Q8WUS8; baseline and differential.
DR Genevisible; Q8WUS8; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0003854; F:3-beta-hydroxy-delta5-steroid dehydrogenase activity; IEA:InterPro.
DR GO; GO:0016616; F:oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor; IBA:GO_Central.
DR GO; GO:0006694; P:steroid biosynthetic process; IEA:InterPro.
DR InterPro; IPR002225; 3Beta_OHSteriod_DH/Estase.
DR InterPro; IPR036291; NAD(P)-bd_dom_sf.
DR Pfam; PF01073; 3Beta_HSD; 1.
DR SUPFAM; SSF51735; SSF51735; 1.
PE 2: Evidence at transcript level;
KW Membrane; NAD; Oxidoreductase; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..393
FT /note="Short-chain dehydrogenase/reductase family 42E
FT member 1"
FT /id="PRO_0000331754"
FT TRANSMEM 282..302
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 371..391
FT /note="Helical"
FT /evidence="ECO:0000255"
FT ACT_SITE 152
FT /note="Proton acceptor"
FT /evidence="ECO:0000250"
FT BINDING 156
FT /ligand="NAD(+)"
FT /ligand_id="ChEBI:CHEBI:57540"
FT /evidence="ECO:0000250"
FT VARIANT 10
FT /note="S -> T (in dbSNP:rs6564956)"
FT /id="VAR_055344"
FT VARIANT 96
FT /note="K -> E (in dbSNP:rs16956174)"
FT /id="VAR_055345"
FT VARIANT 320
FT /note="G -> D (in dbSNP:rs3813012)"
FT /id="VAR_055346"
FT CONFLICT 380
FT /note="A -> E (in Ref. 4; AAF28928)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 393 AA; 44284 MW; A559F1F04C9A5355 CRC64;
MDPKRSQKES VLITGGSGYF GFRLGCALNQ NGVHVILFDI SSPAQTIPEG IKFIQGDIRH
LSDVEKAFQD ADVTCVFHIA SYGMSGREQL NRNLIKEVNV RGTDNILQVC QRRRVPRLVY
TSTFNVIFGG QVIRNGDESL PYLPLHLHPD HYSRTKSIAE QKVLEANATP LDRGDGVLRT
CALRPAGIYG PGEQRHLPRI VSYIEKGLFK FVYGDPRSLV EFVHVDNLVQ AHILASEALR
ADKGHIASGQ PYFISDGRPV NNFEFFRPLV EGLGYTFPST RLPLTLVYCF AFLTEMVHFI
LGRLYNFQPF LTRTEVYKTG VTHYFSLEKA KKELGYKAQP FDLQEAVEWF KAHGHGRSSG
SRDSECFVWD GLLVFLLIIA VLMWLPSSVI LSL
