LRP5L_HUMAN
ID LRP5L_HUMAN Reviewed; 252 AA.
AC A4QPB2; B0QYF3; B0QYF4; B2RPI5;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 10-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Low-density lipoprotein receptor-related protein 5-like protein;
DE Short=LRP-5-like;
GN Name=LRP5L;
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] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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 Name=1;
CC IsoId=A4QPB2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A4QPB2-2; Sequence=VSP_026667, VSP_026668;
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DR EMBL; AL137651; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL022324; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC137460; AAI37461.1; -; mRNA.
DR EMBL; BC137463; AAI37464.1; -; mRNA.
DR EMBL; BC139736; AAI39737.1; -; mRNA.
DR RefSeq; NP_001129244.1; NM_001135772.1. [A4QPB2-1]
DR RefSeq; NP_872298.1; NM_182492.2. [A4QPB2-1]
DR RefSeq; XP_006724435.1; XM_006724372.3. [A4QPB2-2]
DR RefSeq; XP_016884572.1; XM_017029083.1. [A4QPB2-1]
DR RefSeq; XP_016884573.1; XM_017029084.1. [A4QPB2-1]
DR RefSeq; XP_016884574.1; XM_017029085.1.
DR RefSeq; XP_016884575.1; XM_017029086.1. [A4QPB2-1]
DR RefSeq; XP_016884576.1; XM_017029087.1. [A4QPB2-1]
DR RefSeq; XP_016884577.1; XM_017029088.1. [A4QPB2-2]
DR AlphaFoldDB; A4QPB2; -.
DR SMR; A4QPB2; -.
DR BioGRID; 124819; 3.
DR IntAct; A4QPB2; 2.
DR MINT; A4QPB2; -.
DR STRING; 9606.ENSP00000482378; -.
DR BioMuta; LRP5L; -.
DR jPOST; A4QPB2; -.
DR MassIVE; A4QPB2; -.
DR MaxQB; A4QPB2; -.
DR PaxDb; A4QPB2; -.
DR PeptideAtlas; A4QPB2; -.
DR PRIDE; A4QPB2; -.
DR ProteomicsDB; 689; -. [A4QPB2-1]
DR ProteomicsDB; 690; -. [A4QPB2-2]
DR DNASU; 91355; -.
DR GeneID; 91355; -.
DR UCSC; uc010guw.2; human. [A4QPB2-1]
DR CTD; 91355; -.
DR DisGeNET; 91355; -.
DR GeneCards; LRP5L; -.
DR HGNC; HGNC:25323; LRP5L.
DR neXtProt; NX_A4QPB2; -.
DR PharmGKB; PA142671533; -.
DR VEuPathDB; HostDB:ENSG00000100068; -.
DR eggNOG; KOG1215; Eukaryota.
DR HOGENOM; CLU_008163_5_0_1; -.
DR InParanoid; A4QPB2; -.
DR OMA; HMGTEHI; -.
DR OrthoDB; 121310at2759; -.
DR PhylomeDB; A4QPB2; -.
DR PathwayCommons; A4QPB2; -.
DR SignaLink; A4QPB2; -.
DR BioGRID-ORCS; 91355; 11 hits in 1079 CRISPR screens.
DR ChiTaRS; LRP5L; human.
DR GenomeRNAi; 91355; -.
DR Pharos; A4QPB2; Tdark.
DR PRO; PR:A4QPB2; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; A4QPB2; protein.
DR Genevisible; A4QPB2; HS.
DR GO; GO:0015026; F:coreceptor activity; IBA:GO_Central.
DR GO; GO:0060612; P:adipose tissue development; IBA:GO_Central.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0048539; P:bone marrow development; IBA:GO_Central.
DR GO; GO:0060349; P:bone morphogenesis; IBA:GO_Central.
DR GO; GO:0046849; P:bone remodeling; IBA:GO_Central.
DR GO; GO:0060444; P:branching involved in mammary gland duct morphogenesis; IBA:GO_Central.
DR GO; GO:0042632; P:cholesterol homeostasis; IBA:GO_Central.
DR GO; GO:0001702; P:gastrulation with mouth forming second; IBA:GO_Central.
DR GO; GO:0002076; P:osteoblast development; IBA:GO_Central.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0061178; P:regulation of insulin secretion involved in cellular response to glucose stimulus; IBA:GO_Central.
DR GO; GO:0061304; P:retinal blood vessel morphogenesis; IBA:GO_Central.
DR Gene3D; 2.120.10.30; -; 1.
DR InterPro; IPR011042; 6-blade_b-propeller_TolB-like.
DR InterPro; IPR000033; LDLR_classB_rpt.
DR Pfam; PF00058; Ldl_recept_b; 2.
DR SMART; SM00135; LY; 4.
DR PROSITE; PS51120; LDLRB; 5.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Repeat.
FT CHAIN 1..252
FT /note="Low-density lipoprotein receptor-related protein 5-
FT like protein"
FT /id="PRO_0000294474"
FT REPEAT 3..45
FT /note="LDL-receptor class B 1"
FT REPEAT 46..88
FT /note="LDL-receptor class B 2"
FT REPEAT 89..132
FT /note="LDL-receptor class B 3"
FT REPEAT 133..175
FT /note="LDL-receptor class B 4"
FT REPEAT 176..218
FT /note="LDL-receptor class B 5"
FT REGION 223..247
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 220..224
FT /note="TNPHA -> PGTAE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026667"
FT VAR_SEQ 225..252
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026668"
FT VARIANT 61
FT /note="T -> M (in dbSNP:rs17616994)"
FT /id="VAR_033191"
SQ SEQUENCE 252 AA; 28483 MW; 20ACE726A1FF7C5A CRC64;
MEGHVYWTDD EVWAIRRAYL DGSGAQTLIN TKINDPDDIA VNWVARSLYW THTGTEHIEV
TCLNSTSHKI LVSEDMDEPR AIALHPEMGL TYWIDWGENP EIKRANLDRQ ELRVLVNASL
GWPNGLALDL QEGKLYWGDA KTDKIEAISV DETKRQTLLK DKLPHIFRFT LLGDFIYWTA
WQHHSIKRVH KVKANRDVII DQLPDLMGLK AVNVDKVVGT NPHADRNGGA ATCASSRPTQ
PGLAAPSRAW NC