UniProtKB - Q9Y561 (LRP12_HUMAN)
Protein
Low-density lipoprotein receptor-related protein 12
Gene
LRP12
Organism
Homo sapiens (Human)
Status
Functioni
Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor.1 Publication
GO - Molecular functioni
- low-density lipoprotein particle receptor activity Source: UniProtKB
GO - Biological processi
- endocytosis Source: UniProtKB
- neuron migration Source: MGI
- neuron projection development Source: MGI
- regulation of growth Source: UniProtKB
- signal transduction Source: UniProtKB
Keywordsi
Molecular function | Receptor |
Biological process | Endocytosis |
Enzyme and pathway databases
PathwayCommonsi | Q9Y561 |
Reactomei | R-HSA-975634, Retinoid metabolism and transport |
Names & Taxonomyi
Protein namesi | Recommended name: Low-density lipoprotein receptor-related protein 12Short name: LDLR-related protein 12 Short name: LRP-12 Alternative name(s): Suppressor of tumorigenicity 7 protein |
Gene namesi | Name:LRP12 Synonyms:ST7 |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:31708, LRP12 |
MIMi | 618299, gene |
neXtProti | NX_Q9Y561 |
VEuPathDBi | HostDB:ENSG00000147650.11 |
Subcellular locationi
Other locations
- Membrane 1 Publication; Single-pass type I membrane protein 1 Publication
- coated pit 1 Publication
Plasma Membrane
- clathrin-coated pit Source: UniProtKB-SubCell
- integral component of plasma membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 33 – 492 | ExtracellularSequence analysisAdd BLAST | 460 | |
Transmembranei | 493 – 513 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 514 – 859 | CytoplasmicSequence analysisAdd BLAST | 346 |
Keywords - Cellular componenti
Coated pit, MembranePathology & Biotechi
Involvement in diseasei
Oculopharyngodistal myopathy 1 (OPDM1)1 Publication
The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the gene.1 Publication
Disease descriptionA form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM1 inheritance pattern is autosomal dominant.
Related information in OMIMOrganism-specific databases
DisGeNETi | 29967 |
MalaCardsi | LRP12 |
MIMi | 164310, phenotype |
OpenTargetsi | ENSG00000147650 |
PharmGKBi | PA134921850 |
Miscellaneous databases
Pharosi | Q9Y561, Tbio |
Genetic variation databases
BioMutai | LRP12 |
DMDMi | 25091287 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 32 | Sequence analysisAdd BLAST | 32 | |
ChainiPRO_0000017339 | 33 – 859 | Low-density lipoprotein receptor-related protein 12Add BLAST | 827 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 47 ↔ 76 | By similarity | ||
Glycosylationi | 75 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 103 ↔ 122 | By similarity | ||
Glycosylationi | 146 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 166 ↔ 178 | By similarity | ||
Disulfide bondi | 173 ↔ 191 | By similarity | ||
Disulfide bondi | 185 ↔ 200 | By similarity | ||
Disulfide bondi | 215 ↔ 232 | By similarity | ||
Disulfide bondi | 222 ↔ 245 | By similarity | ||
Disulfide bondi | 239 ↔ 254 | By similarity | ||
Disulfide bondi | 259 ↔ 285 | By similarity | ||
Glycosylationi | 284 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 366 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 375 ↔ 388 | By similarity | ||
Disulfide bondi | 382 ↔ 401 | By similarity | ||
Disulfide bondi | 395 ↔ 410 | By similarity | ||
Glycosylationi | 409 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 413 ↔ 426 | By similarity | ||
Disulfide bondi | 420 ↔ 439 | By similarity | ||
Disulfide bondi | 433 ↔ 448 | By similarity | ||
Glycosylationi | 441 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 451 ↔ 463 | By similarity | ||
Disulfide bondi | 458 ↔ 476 | By similarity | ||
Disulfide bondi | 470 ↔ 485 | By similarity |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | Q9Y561 |
MassIVEi | Q9Y561 |
PaxDbi | Q9Y561 |
PeptideAtlasi | Q9Y561 |
PRIDEi | Q9Y561 |
ProteomicsDBi | 86291 [Q9Y561-1] 86292 [Q9Y561-2] |
PTM databases
GlyGeni | Q9Y561, 6 sites |
iPTMneti | Q9Y561 |
PhosphoSitePlusi | Q9Y561 |
SwissPalmi | Q9Y561 |
Expressioni
Tissue specificityi
Widely expressed in heart, skeletal muscle, brain, lung, placenta and pancreas, but not in tissues consisting of a large number of epithelial cells, such as liver and kidney. Expressed at very low levels in a number of tumor-derived cell lines.1 Publication
Gene expression databases
Bgeei | ENSG00000147650, Expressed in cortical plate and 217 other tissues |
ExpressionAtlasi | Q9Y561, baseline and differential |
Genevisiblei | Q9Y561, HS |
Organism-specific databases
HPAi | ENSG00000147650, Low tissue specificity |
Interactioni
Subunit structurei
May interact with RACK1, ZFYVE9 and NMRK2.
Binary interactionsi
Hide detailsQ9Y561
With | #Exp. | IntAct |
---|---|---|
NMRK2 [Q9NPI5] | 2 | EBI-296693,EBI-514059 |
RACK1 [P63244] | 2 | EBI-296693,EBI-296739 |
ZFYVE9 [O95405] | 2 | EBI-296693,EBI-296817 |
Protein-protein interaction databases
BioGRIDi | 119000, 34 interactors |
IntActi | Q9Y561, 29 interactors |
MINTi | Q9Y561 |
STRINGi | 9606.ENSP00000276654 |
Miscellaneous databases
RNActi | Q9Y561, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 47 – 159 | CUB 1PROSITE-ProRule annotationAdd BLAST | 113 | |
Domaini | 165 – 201 | LDL-receptor class A 1PROSITE-ProRule annotationAdd BLAST | 37 | |
Domaini | 214 – 255 | LDL-receptor class A 2PROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 259 – 372 | CUB 2PROSITE-ProRule annotationAdd BLAST | 114 | |
Domaini | 374 – 411 | LDL-receptor class A 3PROSITE-ProRule annotationAdd BLAST | 38 | |
Domaini | 412 – 449 | LDL-receptor class A 4PROSITE-ProRule annotationAdd BLAST | 38 | |
Domaini | 450 – 486 | LDL-receptor class A 5PROSITE-ProRule annotationAdd BLAST | 37 |
Sequence similaritiesi
Belongs to the LDLR family.Curated
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1215, Eukaryota |
GeneTreei | ENSGT00940000158307 |
InParanoidi | Q9Y561 |
OMAi | PYSATHH |
PhylomeDBi | Q9Y561 |
TreeFami | TF332149 |
Family and domain databases
CDDi | cd00041, CUB, 2 hits cd00112, LDLa, 5 hits |
Gene3Di | 2.60.120.290, 2 hits 4.10.400.10, 5 hits |
InterProi | View protein in InterPro IPR000859, CUB_dom IPR036055, LDL_receptor-like_sf IPR023415, LDLR_class-A_CS IPR002172, LDrepeatLR_classA_rpt IPR035914, Sperma_CUB_dom_sf |
Pfami | View protein in Pfam PF00431, CUB, 2 hits PF00057, Ldl_recept_a, 4 hits |
PRINTSi | PR00261, LDLRECEPTOR |
SMARTi | View protein in SMART SM00042, CUB, 2 hits SM00192, LDLa, 5 hits |
SUPFAMi | SSF49854, SSF49854, 2 hits SSF57424, SSF57424, 5 hits |
PROSITEi | View protein in PROSITE PS01180, CUB, 2 hits PS01209, LDLRA_1, 2 hits PS50068, LDLRA_2, 5 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9Y561-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MACRWSTKES PRWRSALLLL FLAGVYGNGA LAEHSENVHI SGVSTACGET
60 70 80 90 100
PEQIRAPSGI ITSPGWPSEY PAKINCSWFI RANPGEIITI SFQDFDIQGS
110 120 130 140 150
RRCNLDWLTI ETYKNIESYR ACGSTIPPPY ISSQDHIWIR FHSDDNISRK
160 170 180 190 200
GFRLAYFSGK SEEPNCACDQ FRCGNGKCIP EAWKCNNMDE CGDSSDEEIC
210 220 230 240 250
AKEANPPTAA AFQPCAYNQF QCLSRFTKVY TCLPESLKCD GNIDCLDLGD
260 270 280 290 300
EIDCDVPTCG QWLKYFYGTF NSPNYPDFYP PGSNCTWLID TGDHRKVILR
310 320 330 340 350
FTDFKLDGTG YGDYVKIYDG LEENPHKLLR VLTAFDSHAP LTVVSSSGQI
360 370 380 390 400
RVHFCADKVN AARGFNATYQ VDGFCLPWEI PCGGNWGCYT EQQRCDGYWH
410 420 430 440 450
CPNGRDETNC TMCQKEEFPC SRNGVCYPRS DRCNYQNHCP NGSDEKNCFF
460 470 480 490 500
CQPGNFHCKN NRCVFESWVC DSQDDCGDGS DEENCPVIVP TRVITAAVIG
510 520 530 540 550
SLICGLLLVI ALGCTCKLYS LRMFERRSFE TQLSRVEAEL LRREAPPSYG
560 570 580 590 600
QLIAQGLIPP VEDFPVCSPN QASVLENLRL AVRSQLGFTS VRLPMAGRSS
610 620 630 640 650
NIWNRIFNFA RSRHSGSLAL VSADGDEVVP SQSTSREPER NHTHRSLFSV
660 670 680 690 700
ESDDTDTENE RRDMAGASGG VAAPLPQKVP PTTAVEATVG ACASSSTQST
710 720 730 740 750
RGGHADNGRD VTSVEPPSVS PARHQLTSAL SRMTQGLRWV RFTLGRSSSL
760 770 780 790 800
SQNQSPLRQL DNGVSGREDD DDVEMLIPIS DGSSDFDVND CSRPLLDLAS
810 820 830 840 850
DQGQGLRQPY NATNPGVRPS NRDGPCERCG IVHTAQIPDT CLEVTLKNET
SDDEALLLC
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE5RIW8 | E5RIW8_HUMAN | Low-density lipoprotein receptor-re... | LRP12 | 200 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049766 | 694 | S → G. Corresponds to variant dbSNP:rs16871494Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_040992 | 27 – 45 | Missing in isoform 2. 1 PublicationAdd BLAST | 19 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF166350 mRNA Translation: AAD44360.1 AK289752 mRNA Translation: BAF82441.1 AK299374 mRNA Translation: BAG61364.1 AC087370 Genomic DNA No translation available. AC090827 Genomic DNA No translation available. AP002847 Genomic DNA No translation available. CH471060 Genomic DNA Translation: EAW91897.1 BC032109 mRNA Translation: AAH32109.1 |
CCDSi | CCDS47907.1 [Q9Y561-2] CCDS6303.1 [Q9Y561-1] |
RefSeqi | NP_001129175.1, NM_001135703.2 [Q9Y561-2] NP_038465.1, NM_013437.4 [Q9Y561-1] |
Genome annotation databases
Ensembli | ENST00000276654; ENSP00000276654; ENSG00000147650 [Q9Y561-1] ENST00000424843; ENSP00000399148; ENSG00000147650 [Q9Y561-2] |
GeneIDi | 29967 |
KEGGi | hsa:29967 |
UCSCi | uc003yma.4, human [Q9Y561-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF166350 mRNA Translation: AAD44360.1 AK289752 mRNA Translation: BAF82441.1 AK299374 mRNA Translation: BAG61364.1 AC087370 Genomic DNA No translation available. AC090827 Genomic DNA No translation available. AP002847 Genomic DNA No translation available. CH471060 Genomic DNA Translation: EAW91897.1 BC032109 mRNA Translation: AAH32109.1 |
CCDSi | CCDS47907.1 [Q9Y561-2] CCDS6303.1 [Q9Y561-1] |
RefSeqi | NP_001129175.1, NM_001135703.2 [Q9Y561-2] NP_038465.1, NM_013437.4 [Q9Y561-1] |
3D structure databases
SMRi | Q9Y561 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119000, 34 interactors |
IntActi | Q9Y561, 29 interactors |
MINTi | Q9Y561 |
STRINGi | 9606.ENSP00000276654 |
PTM databases
GlyGeni | Q9Y561, 6 sites |
iPTMneti | Q9Y561 |
PhosphoSitePlusi | Q9Y561 |
SwissPalmi | Q9Y561 |
Genetic variation databases
BioMutai | LRP12 |
DMDMi | 25091287 |
Proteomic databases
jPOSTi | Q9Y561 |
MassIVEi | Q9Y561 |
PaxDbi | Q9Y561 |
PeptideAtlasi | Q9Y561 |
PRIDEi | Q9Y561 |
ProteomicsDBi | 86291 [Q9Y561-1] 86292 [Q9Y561-2] |
Protocols and materials databases
Antibodypediai | 2508, 184 antibodies |
DNASUi | 29967 |
Genome annotation databases
Ensembli | ENST00000276654; ENSP00000276654; ENSG00000147650 [Q9Y561-1] ENST00000424843; ENSP00000399148; ENSG00000147650 [Q9Y561-2] |
GeneIDi | 29967 |
KEGGi | hsa:29967 |
UCSCi | uc003yma.4, human [Q9Y561-1] |
Organism-specific databases
CTDi | 29967 |
DisGeNETi | 29967 |
GeneCardsi | LRP12 |
HGNCi | HGNC:31708, LRP12 |
HPAi | ENSG00000147650, Low tissue specificity |
MalaCardsi | LRP12 |
MIMi | 164310, phenotype 618299, gene |
neXtProti | NX_Q9Y561 |
OpenTargetsi | ENSG00000147650 |
PharmGKBi | PA134921850 |
VEuPathDBi | HostDB:ENSG00000147650.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1215, Eukaryota |
GeneTreei | ENSGT00940000158307 |
InParanoidi | Q9Y561 |
OMAi | PYSATHH |
PhylomeDBi | Q9Y561 |
TreeFami | TF332149 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y561 |
Reactomei | R-HSA-975634, Retinoid metabolism and transport |
Miscellaneous databases
BioGRID-ORCSi | 29967, 7 hits in 879 CRISPR screens |
ChiTaRSi | LRP12, human |
GenomeRNAii | 29967 |
Pharosi | Q9Y561, Tbio |
PROi | PR:Q9Y561 |
RNActi | Q9Y561, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000147650, Expressed in cortical plate and 217 other tissues |
ExpressionAtlasi | Q9Y561, baseline and differential |
Genevisiblei | Q9Y561, HS |
Family and domain databases
CDDi | cd00041, CUB, 2 hits cd00112, LDLa, 5 hits |
Gene3Di | 2.60.120.290, 2 hits 4.10.400.10, 5 hits |
InterProi | View protein in InterPro IPR000859, CUB_dom IPR036055, LDL_receptor-like_sf IPR023415, LDLR_class-A_CS IPR002172, LDrepeatLR_classA_rpt IPR035914, Sperma_CUB_dom_sf |
Pfami | View protein in Pfam PF00431, CUB, 2 hits PF00057, Ldl_recept_a, 4 hits |
PRINTSi | PR00261, LDLRECEPTOR |
SMARTi | View protein in SMART SM00042, CUB, 2 hits SM00192, LDLa, 5 hits |
SUPFAMi | SSF49854, SSF49854, 2 hits SSF57424, SSF57424, 5 hits |
PROSITEi | View protein in PROSITE PS01180, CUB, 2 hits PS01209, LDLRA_1, 2 hits PS50068, LDLRA_2, 5 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LRP12_HUMAN | |
Accessioni | Q9Y561Primary (citable) accession number: Q9Y561 Secondary accession number(s): A8K137, B4DRQ2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 15, 2002 |
Last sequence update: | November 1, 1999 | |
Last modified: | February 10, 2021 | |
This is version 181 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM