LEU7_HUMAN
ID LEU7_HUMAN Reviewed; 221 AA.
AC Q6UYE1; Q2M2E4; Q6ZT82;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 110.
DE RecName: Full=Leukemia-associated protein 7;
DE AltName: Full=Deleted in lymphocytic leukemia 7;
GN Name=DLEU7; Synonyms=LEU7;
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 [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RX PubMed=14706829; DOI=10.1016/s0014-5793(03)01371-1;
RA Hammarsund M., Corcoran M.M., Wilson W., Zhu C., Einhorn S., Sangfelt O.,
RA Grander D.;
RT "Characterization of a novel B-CLL candidate gene -- DLEU7 -- located in
RT the 13q14 tumor suppressor locus.";
RL FEBS Lett. 556:75-80(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT VAL-83.
RC TISSUE=Amygdala;
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] (ISOFORM 2), AND VARIANT VAL-83.
RC TISSUE=Brain;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Comment=Additional isoforms seem to exist.;
CC Name=1;
CC IsoId=Q6UYE1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UYE1-2; Sequence=VSP_024027;
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:14706829}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the fetal brain, liver and kidney.
CC {ECO:0000269|PubMed:14706829}.
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DR EMBL; AY357595; AAR11480.1; -; mRNA.
DR EMBL; AY357590; AAR11481.1; -; Genomic_DNA.
DR EMBL; AY357589; AAR11481.1; JOINED; Genomic_DNA.
DR EMBL; AK126830; BAC86712.1; -; mRNA.
DR EMBL; BC104892; AAI04893.1; -; mRNA.
DR EMBL; BC112009; AAI12010.1; -; mRNA.
DR CCDS; CCDS53869.1; -. [Q6UYE1-2]
DR CCDS; CCDS76635.1; -. [Q6UYE1-1]
DR RefSeq; NP_001293064.1; NM_001306135.1. [Q6UYE1-1]
DR RefSeq; NP_945340.2; NM_198989.3. [Q6UYE1-2]
DR AlphaFoldDB; Q6UYE1; -.
DR SMR; Q6UYE1; -.
DR BioGRID; 128628; 5.
DR STRING; 9606.ENSP00000420976; -.
DR iPTMnet; Q6UYE1; -.
DR PhosphoSitePlus; Q6UYE1; -.
DR BioMuta; DLEU7; -.
DR DMDM; 74710280; -.
DR EPD; Q6UYE1; -.
DR jPOST; Q6UYE1; -.
DR PaxDb; Q6UYE1; -.
DR PeptideAtlas; Q6UYE1; -.
DR PRIDE; Q6UYE1; -.
DR ProteomicsDB; 67699; -. [Q6UYE1-1]
DR ProteomicsDB; 67700; -. [Q6UYE1-2]
DR TopDownProteomics; Q6UYE1-1; -. [Q6UYE1-1]
DR Antibodypedia; 65682; 25 antibodies from 13 providers.
DR DNASU; 220107; -.
DR Ensembl; ENST00000400393.3; ENSP00000420976.1; ENSG00000186047.11. [Q6UYE1-2]
DR Ensembl; ENST00000504404.2; ENSP00000427177.1; ENSG00000186047.11. [Q6UYE1-1]
DR GeneID; 220107; -.
DR KEGG; hsa:220107; -.
DR MANE-Select; ENST00000504404.2; ENSP00000427177.1; NM_001306135.2; NP_001293064.1.
DR UCSC; uc001vex.3; human. [Q6UYE1-1]
DR CTD; 220107; -.
DR DisGeNET; 220107; -.
DR GeneCards; DLEU7; -.
DR HGNC; HGNC:17567; DLEU7.
DR HPA; ENSG00000186047; Group enriched (brain, choroid plexus).
DR MIM; 618634; gene.
DR neXtProt; NX_Q6UYE1; -.
DR OpenTargets; ENSG00000186047; -.
DR PharmGKB; PA142671974; -.
DR VEuPathDB; HostDB:ENSG00000186047; -.
DR eggNOG; ENOG502SA9N; Eukaryota.
DR GeneTree; ENSGT00390000011737; -.
DR HOGENOM; CLU_112947_0_0_1; -.
DR InParanoid; Q6UYE1; -.
DR OMA; PCSLARM; -.
DR OrthoDB; 1601384at2759; -.
DR PhylomeDB; Q6UYE1; -.
DR TreeFam; TF335748; -.
DR PathwayCommons; Q6UYE1; -.
DR BioGRID-ORCS; 220107; 6 hits in 1059 CRISPR screens.
DR ChiTaRS; DLEU7; human.
DR GenomeRNAi; 220107; -.
DR Pharos; Q6UYE1; Tdark.
DR PRO; PR:Q6UYE1; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q6UYE1; protein.
DR Bgee; ENSG00000186047; Expressed in prefrontal cortex and 100 other tissues.
DR InterPro; IPR031510; DLEU7.
DR PANTHER; PTHR36961; PTHR36961; 1.
DR Pfam; PF15760; DLEU7; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..221
FT /note="Leukemia-associated protein 7"
FT /id="PRO_0000281767"
FT REGION 31..92
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 59..73
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 154..221
FT /note="DSVEFRNICSHLALQIEGQQFDRDLNAAHQCLKTIVKKLIQSLANFPSDAHM
FT VACASLRQILQNLPDI -> LQLLANE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_024027"
FT VARIANT 83
FT /note="A -> V (in dbSNP:rs898861)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_031280"
SQ SEQUENCE 221 AA; 23924 MW; 7993F9A3A460D78C CRC64;
MASPAPLVAS ISHQMVALQT LQLLQQEWGW GDGPVAPGNP RDPDHVSTAP ARRSGPPRAR
PGPGREERGG GVGTRSRRTA ARANSPEEEV VRGAEGGAEL LPFPRDRGPC TLAQMAMRSA
LARVVDSTSE LVSVEQTLLG PLQQERSFPI HLKDSVEFRN ICSHLALQIE GQQFDRDLNA
AHQCLKTIVK KLIQSLANFP SDAHMVACAS LRQILQNLPD I
