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Q8N8U9

- BMPER_HUMAN

UniProt

Q8N8U9 - BMPER_HUMAN

Protein

BMP-binding endothelial regulator protein

Gene

BMPER

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes.1 Publication

    GO - Biological processi

    1. blood vessel endothelial cell proliferation involved in sprouting angiogenesis Source: BHF-UCL
    2. endothelial cell activation Source: BHF-UCL
    3. inner ear development Source: Ensembl
    4. negative regulation of BMP signaling pathway Source: BHF-UCL
    5. positive regulation of ERK1 and ERK2 cascade Source: BHF-UCL
    6. regulation of endothelial cell migration Source: BHF-UCL
    7. regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
    8. ureteric bud development Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    BMP-binding endothelial regulator protein
    Alternative name(s):
    Bone morphogenetic protein-binding endothelial cell precursor-derived regulator
    Protein crossveinless-2
    Short name:
    hCV2
    Gene namesi
    Name:BMPER
    Synonyms:KIAA1965
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:24154. BMPER.

    Subcellular locationi

    Secreted 1 Publication

    GO - Cellular componenti

    1. extracellular space Source: BHF-UCL

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Diaphanospondylodysostosis (DSD) [MIM:608022]: A rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti370 – 3701P → L in DSD. 1 Publication
    VAR_065823

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi608022. phenotype.
    Orphaneti66637. Diaphanospondylodysostosis.
    PharmGKBiPA142672557.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3939Sequence AnalysisAdd
    BLAST
    Chaini40 – 685646BMP-binding endothelial regulator proteinPRO_0000020820Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi30 – 301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi116 – 1161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi247 – 2471N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi255 – 2551N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi318 – 3181N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi441 – 4411N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ8N8U9.
    PRIDEiQ8N8U9.

    PTM databases

    PhosphoSiteiQ8N8U9.

    Expressioni

    Tissue specificityi

    Highly expressed in lung, and brain and also in primary chondrocytes.1 Publication

    Gene expression databases

    ArrayExpressiQ8N8U9.
    BgeeiQ8N8U9.
    CleanExiHS_BMPER.
    GenevestigatoriQ8N8U9.

    Organism-specific databases

    HPAiHPA018083.

    Interactioni

    Subunit structurei

    Interacts with BMP4.By similarity

    Protein-protein interaction databases

    DIPiDIP-47327N.
    IntActiQ8N8U9. 1 interaction.
    STRINGi9606.ENSP00000297161.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N8U9.
    SMRiQ8N8U9. Positions 42-107.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini50 – 10556VWFC 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini108 – 16356VWFC 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini164 – 22562VWFC 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini238 – 28952VWFC 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini299 – 35860VWFC 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini363 – 574212VWFDPROSITE-ProRule annotationAdd
    BLAST
    Domaini629 – 68254TILAdd
    BLAST

    Sequence similaritiesi

    Contains 5 VWFC domains.PROSITE-ProRule annotation
    Contains 1 VWFD domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG283828.
    HOGENOMiHOG000234284.
    HOVERGENiHBG050704.
    InParanoidiQ8N8U9.
    OMAiEFCNRPQ.
    OrthoDBiEOG7G7KNN.
    PhylomeDBiQ8N8U9.
    TreeFamiTF343473.

    Family and domain databases

    InterProiIPR002919. TIL_dom.
    IPR014853. Unchr_dom_Cys-rich.
    IPR001007. VWF_C.
    IPR001846. VWF_type-D.
    [Graphical view]
    PfamiPF08742. C8. 1 hit.
    PF01826. TIL. 1 hit.
    PF00093. VWC. 2 hits.
    PF00094. VWD. 1 hit.
    [Graphical view]
    SMARTiSM00832. C8. 1 hit.
    SM00214. VWC. 5 hits.
    SM00216. VWD. 1 hit.
    [Graphical view]
    SUPFAMiSSF57567. SSF57567. 1 hit.
    PROSITEiPS01208. VWFC_1. 3 hits.
    PS50184. VWFC_2. 2 hits.
    PS51233. VWFD. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q8N8U9-1 [UniParc]FASTAAdd to Basket

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    MLWFSGVGAL AERYCRRSPG ITCCVLLLLN CSGVPMSLAS SFLTGSVAKC    50
    ENEGEVLQIP FITDNPCIMC VCLNKEVTCK REKCPVLSRD CALAIKQRGA 100
    CCEQCKGCTY EGNTYNSSFK WQSPAEPCVL RQCQEGVVTE SGVRCVVHCK 150
    NPLEHLGMCC PTCPGCVFEG VQYQEGEEFQ PEGSKCTKCS CTGGRTQCVR 200
    EVCPILSCPQ HLSHIPPGQC CPKCLGQRKV FDLPFGSCLF RSDVYDNGSS 250
    FLYDNCTACT CRDSTVVCKR KCSHPGGCDQ GQEGCCEECL LRVPPEDIKV 300
    CKFGNKIFQD GEMWSSINCT ICACVKGRTE CRNKQCIPIS SCPQGKILNR 350
    KGCCPICTEK PGVCTVFGDP HYNTFDGRTF NFQGTCQYVL TKDCSSPASP 400
    FQVLVKNDAR RTRSFSWTKS VELVLGESRV SLQQHLTVRW NGSRIALPCR 450
    APHFHIDLDG YLLKVTTKAG LEISWDGDSF VEVMAAPHLK GKLCGLCGNY 500
    NGHKRDDLIG GDGNFKFDVD DFAESWRVES NEFCNRPQRK PVPELCQGTV 550
    KVKLRAHREC QKLKSWEFQT CHSTVDYATF YRSCVTDMCE CPVHKNCYCE 600
    SFLAYTRACQ REGIKVHWEP QQNCAATQCK HGAVYDTCGP GCIKTCDNWN 650
    EIGPCNKPCV AGCHCPANLV LHKGRCIKPV LCPQR 685
    Length:685
    Mass (Da):75,997
    Last modified:October 17, 2006 - v3
    Checksum:iA5048AADEBF04AB0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti79 – 791C → R in BAC04712. (PubMed:14702039)Curated
    Sequence conflicti79 – 791C → R in AAH60868. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti370 – 3701P → L in DSD. 1 Publication
    VAR_065823
    Natural varianti555 – 5551R → W.
    Corresponds to variant rs10249320 [ dbSNP | Ensembl ].
    VAR_028166

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY324650 mRNA. Translation: AAP89012.1.
    AK096150 mRNA. Translation: BAC04712.1.
    AK289963 mRNA. Translation: BAF82652.1.
    BC060868 mRNA. Translation: AAH60868.1.
    AB075845 mRNA. Translation: BAB85551.1.
    CCDSiCCDS5442.1.
    RefSeqiNP_597725.1. NM_133468.4.
    UniGeneiHs.660998.

    Genome annotation databases

    EnsembliENST00000297161; ENSP00000297161; ENSG00000164619.
    GeneIDi168667.
    KEGGihsa:168667.
    UCSCiuc011kap.2. human.

    Polymorphism databases

    DMDMi116241270.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY324650 mRNA. Translation: AAP89012.1 .
    AK096150 mRNA. Translation: BAC04712.1 .
    AK289963 mRNA. Translation: BAF82652.1 .
    BC060868 mRNA. Translation: AAH60868.1 .
    AB075845 mRNA. Translation: BAB85551.1 .
    CCDSi CCDS5442.1.
    RefSeqi NP_597725.1. NM_133468.4.
    UniGenei Hs.660998.

    3D structure databases

    ProteinModelPortali Q8N8U9.
    SMRi Q8N8U9. Positions 42-107.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-47327N.
    IntActi Q8N8U9. 1 interaction.
    STRINGi 9606.ENSP00000297161.

    PTM databases

    PhosphoSitei Q8N8U9.

    Polymorphism databases

    DMDMi 116241270.

    Proteomic databases

    PaxDbi Q8N8U9.
    PRIDEi Q8N8U9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297161 ; ENSP00000297161 ; ENSG00000164619 .
    GeneIDi 168667.
    KEGGi hsa:168667.
    UCSCi uc011kap.2. human.

    Organism-specific databases

    CTDi 168667.
    GeneCardsi GC07P033944.
    HGNCi HGNC:24154. BMPER.
    HPAi HPA018083.
    MIMi 608022. phenotype.
    608699. gene.
    neXtProti NX_Q8N8U9.
    Orphaneti 66637. Diaphanospondylodysostosis.
    PharmGKBi PA142672557.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG283828.
    HOGENOMi HOG000234284.
    HOVERGENi HBG050704.
    InParanoidi Q8N8U9.
    OMAi EFCNRPQ.
    OrthoDBi EOG7G7KNN.
    PhylomeDBi Q8N8U9.
    TreeFami TF343473.

    Miscellaneous databases

    ChiTaRSi BMPER. human.
    GeneWikii BMPER.
    GenomeRNAii 168667.
    NextBioi 88766.
    PROi Q8N8U9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N8U9.
    Bgeei Q8N8U9.
    CleanExi HS_BMPER.
    Genevestigatori Q8N8U9.

    Family and domain databases

    InterProi IPR002919. TIL_dom.
    IPR014853. Unchr_dom_Cys-rich.
    IPR001007. VWF_C.
    IPR001846. VWF_type-D.
    [Graphical view ]
    Pfami PF08742. C8. 1 hit.
    PF01826. TIL. 1 hit.
    PF00093. VWC. 2 hits.
    PF00094. VWD. 1 hit.
    [Graphical view ]
    SMARTi SM00832. C8. 1 hit.
    SM00214. VWC. 5 hits.
    SM00216. VWD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57567. SSF57567. 1 hit.
    PROSITEi PS01208. VWFC_1. 3 hits.
    PS50184. VWFC_2. 2 hits.
    PS51233. VWFD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, 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].
      Tissue: Hippocampus.
    3. "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].
      Tissue: Placenta.
    4. "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
      Nagase T., Kikuno R., Ohara O.
      DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 121-685.
      Tissue: Brain.
    5. "BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing."
      Funari V.A., Krakow D., Nevarez L., Chen Z., Funari T.L., Vatanavicharn N., Wilcox W.R., Rimoin D.L., Nelson S.F., Cohn D.H.
      Am. J. Hum. Genet. 87:532-537(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DSD LEU-370.

    Entry informationi

    Entry nameiBMPER_HUMAN
    AccessioniPrimary (citable) accession number: Q8N8U9
    Secondary accession number(s): A8K1P8, Q8TF36
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2004
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 101 of the entry and version 3 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 7
      Human chromosome 7: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3