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Q8N8U9 (BMPER_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:BMPER
Synonyms:KIAA1965
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length685 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with BMP4 By similarity.

Subcellular location

Secreted Ref.1.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Contains 1 TIL (trypsin inhibitory-like) domain.

Contains 5 VWFC domains.

Contains 1 VWFD domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3939 Potential
Chain40 – 685646BMP-binding endothelial regulator protein
PRO_0000020820

Regions

Domain50 – 10556VWFC 1
Domain108 – 16356VWFC 2
Domain164 – 22562VWFC 3
Domain238 – 28952VWFC 4
Domain299 – 35860VWFC 5
Domain363 – 574212VWFD
Domain629 – 68254TIL

Amino acid modifications

Glycosylation301N-linked (GlcNAc...) Potential
Glycosylation1161N-linked (GlcNAc...) Potential
Glycosylation2471N-linked (GlcNAc...) Potential
Glycosylation2551N-linked (GlcNAc...) Potential
Glycosylation3181N-linked (GlcNAc...) Potential
Glycosylation4411N-linked (GlcNAc...) Potential

Natural variations

Natural variant3701P → L in DSD. Ref.5
VAR_065823
Natural variant5551R → W.
Corresponds to variant rs10249320 [ dbSNP | Ensembl ].
VAR_028166

Experimental info

Sequence conflict791C → R in BAC04712. Ref.2
Sequence conflict791C → R in AAH60868. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q8N8U9 [UniParc].

Last modified October 17, 2006. Version 3.
Checksum: A5048AADEBF04AB0

FASTA68575,997
        10         20         30         40         50         60 
MLWFSGVGAL AERYCRRSPG ITCCVLLLLN CSGVPMSLAS SFLTGSVAKC ENEGEVLQIP 

        70         80         90        100        110        120 
FITDNPCIMC VCLNKEVTCK REKCPVLSRD CALAIKQRGA CCEQCKGCTY EGNTYNSSFK 

       130        140        150        160        170        180 
WQSPAEPCVL RQCQEGVVTE SGVRCVVHCK NPLEHLGMCC PTCPGCVFEG VQYQEGEEFQ 

       190        200        210        220        230        240 
PEGSKCTKCS CTGGRTQCVR EVCPILSCPQ HLSHIPPGQC CPKCLGQRKV FDLPFGSCLF 

       250        260        270        280        290        300 
RSDVYDNGSS FLYDNCTACT CRDSTVVCKR KCSHPGGCDQ GQEGCCEECL LRVPPEDIKV 

       310        320        330        340        350        360 
CKFGNKIFQD GEMWSSINCT ICACVKGRTE CRNKQCIPIS SCPQGKILNR KGCCPICTEK 

       370        380        390        400        410        420 
PGVCTVFGDP HYNTFDGRTF NFQGTCQYVL TKDCSSPASP FQVLVKNDAR RTRSFSWTKS 

       430        440        450        460        470        480 
VELVLGESRV SLQQHLTVRW NGSRIALPCR APHFHIDLDG YLLKVTTKAG LEISWDGDSF 

       490        500        510        520        530        540 
VEVMAAPHLK GKLCGLCGNY NGHKRDDLIG GDGNFKFDVD DFAESWRVES NEFCNRPQRK 

       550        560        570        580        590        600 
PVPELCQGTV KVKLRAHREC QKLKSWEFQT CHSTVDYATF YRSCVTDMCE CPVHKNCYCE 

       610        620        630        640        650        660 
SFLAYTRACQ REGIKVHWEP QQNCAATQCK HGAVYDTCGP GCIKTCDNWN EIGPCNKPCV 

       670        680 
AGCHCPANLV LHKGRCIKPV LCPQR 

« Hide

References

« Hide 'large scale' references
[1]"Human Crossveinless-2 is a novel inhibitor of bone morphogenetic proteins."
Binnerts M.E., Wen X., Cante-Barrett K., Bright J., Chen H.-T., Asundi V., Sattari P., Tang T., Boyle B., Funk W., Rupp F.
Biochem. Biophys. Res. Commun. 315:272-280(2004) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS5442.1.
RefSeqNP_597725.1. NM_133468.4.
UniGeneHs.660998.

3D structure databases

ProteinModelPortalQ8N8U9.
SMRQ8N8U9. Positions 42-107.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

DIPDIP-47327N.
STRING9606.ENSP00000297161.

PTM databases

PhosphoSiteQ8N8U9.

Polymorphism databases

DMDM116241270.

Proteomic databases

PaxDbQ8N8U9.
PRIDEQ8N8U9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297161; ENSP00000297161; ENSG00000164619.
ENST00000426693; ENSP00000393950; ENSG00000164619.
GeneID168667.
KEGGhsa:168667.
UCSCuc011kap.2. human.

Organism-specific databases

CTD168667.
GeneCardsGC07P033944.
HGNCHGNC:24154. BMPER.
HPAHPA018083.
MIM608022. phenotype.
608699. gene.
neXtProtNX_Q8N8U9.
Orphanet66637. Diaphanospondylodysostosis.
PharmGKBPA142672557.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG283828.
HOGENOMHOG000234284.
HOVERGENHBG050704.
InParanoidQ8N8U9.
OMAEFCNRPQ.
OrthoDBEOG7G7KNN.
PhylomeDBQ8N8U9.
TreeFamTF343473.

Gene expression databases

ArrayExpressQ8N8U9.
BgeeQ8N8U9.
CleanExHS_BMPER.
GenevestigatorQ8N8U9.

Family and domain databases

InterProIPR002919. TIL_dom.
IPR014853. Unchr_dom_Cys-rich.
IPR001007. VWF_C.
IPR001846. VWF_type-D.
[Graphical view]
PfamPF08742. C8. 1 hit.
PF01826. TIL. 1 hit.
PF00093. VWC. 2 hits.
PF00094. VWD. 1 hit.
[Graphical view]
SMARTSM00832. C8. 1 hit.
SM00214. VWC. 5 hits.
SM00216. VWD. 1 hit.
[Graphical view]
SUPFAMSSF57567. SSF57567. 1 hit.
PROSITEPS01208. VWFC_1. 3 hits.
PS50184. VWFC_2. 2 hits.
PS51233. VWFD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBMPER. human.
GeneWikiBMPER.
GenomeRNAi168667.
NextBio88766.
PROQ8N8U9.
SOURCESearch...

Entry information

Entry nameBMPER_HUMAN
AccessionPrimary (citable) accession number: Q8N8U9
Secondary accession number(s): A8K1P8, Q8TF36
Entry history
Integrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 100 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM