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Q9Y561

- LRP12_HUMAN

UniProt

Q9Y561 - LRP12_HUMAN

Protein

Low-density lipoprotein receptor-related protein 12

Gene

LRP12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    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

    1. low-density lipoprotein receptor activity Source: UniProtKB
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. endocytosis Source: UniProtKB
    2. receptor-mediated endocytosis Source: GOC
    3. regulation of growth Source: UniProtKB
    4. signal transduction Source: UniProtKB

    Keywords - Molecular functioni

    Receptor

    Keywords - Biological processi

    Endocytosis

    Enzyme and pathway databases

    ReactomeiREACT_24968. Retinoid metabolism and transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Low-density lipoprotein receptor-related protein 12
    Short name:
    LRP-12
    Alternative name(s):
    Suppressor of tumorigenicity 7 protein
    Gene namesi
    Name:LRP12
    Synonyms:ST7
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:31708. LRP12.

    Subcellular locationi

    Membrane 1 Publication; Single-pass type I membrane protein 1 Publication. Membranecoated pit 1 Publication

    GO - Cellular componenti

    1. coated pit Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB
    3. integral component of plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Coated pit, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134921850.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3232Sequence AnalysisAdd
    BLAST
    Chaini33 – 859827Low-density lipoprotein receptor-related protein 12PRO_0000017339Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi47 ↔ 76By similarity
    Glycosylationi75 – 751N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi103 ↔ 122By similarity
    Glycosylationi146 – 1461N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi166 ↔ 178By similarity
    Disulfide bondi173 ↔ 191By similarity
    Disulfide bondi185 ↔ 200By similarity
    Disulfide bondi215 ↔ 232By similarity
    Disulfide bondi222 ↔ 245By similarity
    Disulfide bondi239 ↔ 254By similarity
    Disulfide bondi259 ↔ 285By similarity
    Glycosylationi284 – 2841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi366 – 3661N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi375 ↔ 388By similarity
    Disulfide bondi382 ↔ 401By similarity
    Disulfide bondi395 ↔ 410By similarity
    Glycosylationi409 – 4091N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi413 ↔ 426By similarity
    Disulfide bondi420 ↔ 439By similarity
    Disulfide bondi433 ↔ 448By similarity
    Glycosylationi441 – 4411N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi451 ↔ 463By similarity
    Disulfide bondi458 ↔ 476By similarity
    Disulfide bondi470 ↔ 485By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ9Y561.
    PaxDbiQ9Y561.
    PRIDEiQ9Y561.

    PTM databases

    PhosphoSiteiQ9Y561.

    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

    ArrayExpressiQ9Y561.
    BgeeiQ9Y561.
    CleanExiHS_LRP12.
    HS_ST7.
    GenevestigatoriQ9Y561.

    Organism-specific databases

    HPAiHPA017245.

    Interactioni

    Subunit structurei

    May interact with GNB2L1, ZFYVE9 and NMRK2.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    GNB2L1P632442EBI-296693,EBI-296739
    NMRK2Q9NPI52EBI-296693,EBI-514059
    ZFYVE9O954052EBI-296693,EBI-296817

    Protein-protein interaction databases

    BioGridi119000. 1 interaction.
    IntActiQ9Y561. 6 interactions.
    STRINGi9606.ENSP00000276654.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y561.
    SMRiQ9Y561. Positions 58-156, 166-370, 413-488.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini33 – 492460ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini514 – 859346CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei493 – 51321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini47 – 159113CUB 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini165 – 20137LDL-receptor class A 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini214 – 25542LDL-receptor class A 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini259 – 372114CUB 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini374 – 41138LDL-receptor class A 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini412 – 44938LDL-receptor class A 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini450 – 48637LDL-receptor class A 5PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the LDLR family.Curated
    Contains 2 CUB domains.PROSITE-ProRule annotation
    Contains 5 LDL-receptor class A domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG242928.
    HOGENOMiHOG000013017.
    HOVERGENiHBG103190.
    InParanoidiQ9Y561.
    OMAiPTCGQWL.
    OrthoDBiEOG7PCJG4.
    PhylomeDBiQ9Y561.
    TreeFamiTF332149.

    Family and domain databases

    Gene3Di2.60.120.290. 2 hits.
    4.10.400.10. 5 hits.
    InterProiIPR000859. CUB_dom.
    IPR023415. LDLR_class-A_CS.
    IPR002172. LDrepeatLR_classA_rpt.
    [Graphical view]
    PfamiPF00431. CUB. 2 hits.
    PF00057. Ldl_recept_a. 3 hits.
    [Graphical view]
    PRINTSiPR00261. LDLRECEPTOR.
    SMARTiSM00042. CUB. 2 hits.
    SM00192. LDLa. 5 hits.
    [Graphical view]
    SUPFAMiSSF49854. SSF49854. 2 hits.
    SSF57424. SSF57424. 5 hits.
    PROSITEiPS01180. CUB. 2 hits.
    PS01209. LDLRA_1. 2 hits.
    PS50068. LDLRA_2. 5 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y561-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MACRWSTKES PRWRSALLLL FLAGVYGNGA LAEHSENVHI SGVSTACGET    50
    PEQIRAPSGI ITSPGWPSEY PAKINCSWFI RANPGEIITI SFQDFDIQGS 100
    RRCNLDWLTI ETYKNIESYR ACGSTIPPPY ISSQDHIWIR FHSDDNISRK 150
    GFRLAYFSGK SEEPNCACDQ FRCGNGKCIP EAWKCNNMDE CGDSSDEEIC 200
    AKEANPPTAA AFQPCAYNQF QCLSRFTKVY TCLPESLKCD GNIDCLDLGD 250
    EIDCDVPTCG QWLKYFYGTF NSPNYPDFYP PGSNCTWLID TGDHRKVILR 300
    FTDFKLDGTG YGDYVKIYDG LEENPHKLLR VLTAFDSHAP LTVVSSSGQI 350
    RVHFCADKVN AARGFNATYQ VDGFCLPWEI PCGGNWGCYT EQQRCDGYWH 400
    CPNGRDETNC TMCQKEEFPC SRNGVCYPRS DRCNYQNHCP NGSDEKNCFF 450
    CQPGNFHCKN NRCVFESWVC DSQDDCGDGS DEENCPVIVP TRVITAAVIG 500
    SLICGLLLVI ALGCTCKLYS LRMFERRSFE TQLSRVEAEL LRREAPPSYG 550
    QLIAQGLIPP VEDFPVCSPN QASVLENLRL AVRSQLGFTS VRLPMAGRSS 600
    NIWNRIFNFA RSRHSGSLAL VSADGDEVVP SQSTSREPER NHTHRSLFSV 650
    ESDDTDTENE RRDMAGASGG VAAPLPQKVP PTTAVEATVG ACASSSTQST 700
    RGGHADNGRD VTSVEPPSVS PARHQLTSAL SRMTQGLRWV RFTLGRSSSL 750
    SQNQSPLRQL DNGVSGREDD DDVEMLIPIS DGSSDFDVND CSRPLLDLAS 800
    DQGQGLRQPY NATNPGVRPS NRDGPCERCG IVHTAQIPDT CLEVTLKNET 850
    SDDEALLLC 859
    Length:859
    Mass (Da):94,984
    Last modified:November 1, 1999 - v1
    Checksum:i41A8FD8121E32A92
    GO
    Isoform 2 (identifier: Q9Y561-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         27-45: Missing.

    Show »
    Length:840
    Mass (Da):93,123
    Checksum:i6C6C3B315296D717
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti694 – 6941S → G.
    Corresponds to variant rs16871494 [ dbSNP | Ensembl ].
    VAR_049766

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei27 – 4519Missing in isoform 2. 1 PublicationVSP_040992Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSiCCDS47907.1. [Q9Y561-2]
    CCDS6303.1. [Q9Y561-1]
    RefSeqiNP_001129175.1. NM_001135703.2. [Q9Y561-2]
    NP_038465.1. NM_013437.4. [Q9Y561-1]
    UniGeneiHs.600630.
    Hs.715867.

    Genome annotation databases

    EnsembliENST00000276654; ENSP00000276654; ENSG00000147650. [Q9Y561-1]
    ENST00000424843; ENSP00000399148; ENSG00000147650. [Q9Y561-2]
    GeneIDi29967.
    KEGGihsa:29967.
    UCSCiuc003yma.3. human. [Q9Y561-1]
    uc003ymb.3. human. [Q9Y561-2]

    Polymorphism databases

    DMDMi25091287.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 ]
    UniGenei Hs.600630.
    Hs.715867.

    3D structure databases

    ProteinModelPortali Q9Y561.
    SMRi Q9Y561. Positions 58-156, 166-370, 413-488.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119000. 1 interaction.
    IntActi Q9Y561. 6 interactions.
    STRINGi 9606.ENSP00000276654.

    PTM databases

    PhosphoSitei Q9Y561.

    Polymorphism databases

    DMDMi 25091287.

    Proteomic databases

    MaxQBi Q9Y561.
    PaxDbi Q9Y561.
    PRIDEi Q9Y561.

    Protocols and materials databases

    DNASUi 29967.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000276654 ; ENSP00000276654 ; ENSG00000147650 . [Q9Y561-1 ]
    ENST00000424843 ; ENSP00000399148 ; ENSG00000147650 . [Q9Y561-2 ]
    GeneIDi 29967.
    KEGGi hsa:29967.
    UCSCi uc003yma.3. human. [Q9Y561-1 ]
    uc003ymb.3. human. [Q9Y561-2 ]

    Organism-specific databases

    CTDi 29967.
    GeneCardsi GC08M105501.
    HGNCi HGNC:31708. LRP12.
    HPAi HPA017245.
    neXtProti NX_Q9Y561.
    PharmGKBi PA134921850.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG242928.
    HOGENOMi HOG000013017.
    HOVERGENi HBG103190.
    InParanoidi Q9Y561.
    OMAi PTCGQWL.
    OrthoDBi EOG7PCJG4.
    PhylomeDBi Q9Y561.
    TreeFami TF332149.

    Enzyme and pathway databases

    Reactomei REACT_24968. Retinoid metabolism and transport.

    Miscellaneous databases

    GenomeRNAii 29967.
    NextBioi 52701.
    PROi Q9Y561.

    Gene expression databases

    ArrayExpressi Q9Y561.
    Bgeei Q9Y561.
    CleanExi HS_LRP12.
    HS_ST7.
    Genevestigatori Q9Y561.

    Family and domain databases

    Gene3Di 2.60.120.290. 2 hits.
    4.10.400.10. 5 hits.
    InterProi IPR000859. CUB_dom.
    IPR023415. LDLR_class-A_CS.
    IPR002172. LDrepeatLR_classA_rpt.
    [Graphical view ]
    Pfami PF00431. CUB. 2 hits.
    PF00057. Ldl_recept_a. 3 hits.
    [Graphical view ]
    PRINTSi PR00261. LDLRECEPTOR.
    SMARTi SM00042. CUB. 2 hits.
    SM00192. LDLa. 5 hits.
    [Graphical view ]
    SUPFAMi SSF49854. SSF49854. 2 hits.
    SSF57424. SSF57424. 5 hits.
    PROSITEi PS01180. CUB. 2 hits.
    PS01209. LDLRA_1. 2 hits.
    PS50068. LDLRA_2. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of a novel gene encoding a putative transmembrane protein with altered expression in some human transformed and tumor-derived cell lines."
      Qing J., Wei D., Maher V.M., McCormick J.J.
      Oncogene 18:335-342(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain.
    3. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Retinal pigment epithelium.
    6. "ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways."
      Battle M.A., Maher V.M., McCormick J.J.
      Biochemistry 42:7270-7282(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, POSSIBLE INTERACTION WITH GNB2L1; ZFYVE9 AND NMRK2.

    Entry informationi

    Entry nameiLRP12_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 130 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3