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Q8N8U9

- BMPER_HUMAN

UniProt

Q8N8U9 - BMPER_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ8N8U9.
CleanExiHS_BMPER.
ExpressionAtlasiQ8N8U9. baseline and differential.
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, 237-273, 297-336, 620-685.
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.
GeneTreeiENSGT00760000118896.
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

« Hide

        10         20         30         40         50
MLWFSGVGAL AERYCRRSPG ITCCVLLLLN CSGVPMSLAS SFLTGSVAKC
60 70 80 90 100
ENEGEVLQIP FITDNPCIMC VCLNKEVTCK REKCPVLSRD CALAIKQRGA
110 120 130 140 150
CCEQCKGCTY EGNTYNSSFK WQSPAEPCVL RQCQEGVVTE SGVRCVVHCK
160 170 180 190 200
NPLEHLGMCC PTCPGCVFEG VQYQEGEEFQ PEGSKCTKCS CTGGRTQCVR
210 220 230 240 250
EVCPILSCPQ HLSHIPPGQC CPKCLGQRKV FDLPFGSCLF RSDVYDNGSS
260 270 280 290 300
FLYDNCTACT CRDSTVVCKR KCSHPGGCDQ GQEGCCEECL LRVPPEDIKV
310 320 330 340 350
CKFGNKIFQD GEMWSSINCT ICACVKGRTE CRNKQCIPIS SCPQGKILNR
360 370 380 390 400
KGCCPICTEK PGVCTVFGDP HYNTFDGRTF NFQGTCQYVL TKDCSSPASP
410 420 430 440 450
FQVLVKNDAR RTRSFSWTKS VELVLGESRV SLQQHLTVRW NGSRIALPCR
460 470 480 490 500
APHFHIDLDG YLLKVTTKAG LEISWDGDSF VEVMAAPHLK GKLCGLCGNY
510 520 530 540 550
NGHKRDDLIG GDGNFKFDVD DFAESWRVES NEFCNRPQRK PVPELCQGTV
560 570 580 590 600
KVKLRAHREC QKLKSWEFQT CHSTVDYATF YRSCVTDMCE CPVHKNCYCE
610 620 630 640 650
SFLAYTRACQ REGIKVHWEP QQNCAATQCK HGAVYDTCGP GCIKTCDNWN
660 670 680
EIGPCNKPCV AGCHCPANLV LHKGRCIKPV LCPQR
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, 237-273, 297-336, 620-685.
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.
GeneTreei ENSGT00760000118896.
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

Bgeei Q8N8U9.
CleanExi HS_BMPER.
ExpressionAtlasi Q8N8U9. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 102 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