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Q9Y561

- LRP12_HUMAN

UniProt

Q9Y561 - LRP12_HUMAN

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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

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

GO - Biological processi

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

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: Unplaced

Organism-specific databases

HGNCiHGNC:31708. LRP12.

Subcellular locationi

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini33 – 492460ExtracellularSequence AnalysisAdd
BLAST
Transmembranei493 – 51321HelicalSequence AnalysisAdd
BLAST
Topological domaini514 – 859346CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. coated pit Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB
  3. integral component of plasma membrane Source: UniProtKB
Complete GO annotation...

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

BgeeiQ9Y561.
CleanExiHS_LRP12.
HS_ST7.
ExpressionAtlasiQ9Y561. baseline and differential.
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. 4 interactions.
IntActiQ9Y561. 6 interactions.
STRINGi9606.ENSP00000276654.

Structurei

3D structure databases

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

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.
GeneTreeiENSGT00760000119194.
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

        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
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:
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.
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

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:
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 ]
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. 4 interactions.
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

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.
GeneTreei ENSGT00760000119194.
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

Bgeei Q9Y561.
CleanExi HS_LRP12.
HS_ST7.
ExpressionAtlasi Q9Y561. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 132 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