Q8N8U9 (BMPER_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	BMPER
Synonyms:	KIAA1965

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	685 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Repeat Signal
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	blood vessel endothelial cell proliferation involved in sprouting angiogenesis Inferred from direct assay PubMed 18787191. Source: BHF-UCL endothelial cell activation Inferred from direct assay PubMed 18787191. Source: BHF-UCL inner ear development Inferred from electronic annotation. Source: Compara negative regulation of BMP signaling pathway Traceable author statement PubMed 18787191. Source: BHF-UCL positive regulation of ERK1 and ERK2 cascade Inferred from direct assay PubMed 18787191. Source: BHF-UCL regulation of endothelial cell migration Inferred from direct assay PubMed 18787191. Source: BHF-UCL regulation of pathway-restricted SMAD protein phosphorylation Inferred from direct assay PubMed 18787191. Source: BHF-UCL ureteric bud development Inferred from electronic annotation. Source: Compara
Cellular_component	extracellular space Inferred from direct assay PubMed 18787191. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 39	39	Potential
	Chain	40 – 685	646	BMP-binding endothelial regulator protein		PRO_0000020820
Regions
	Domain	50 – 105	56	VWFC 1
	Domain	108 – 163	56	VWFC 2
	Domain	164 – 225	62	VWFC 3
	Domain	238 – 289	52	VWFC 4
	Domain	299 – 358	60	VWFC 5
	Domain	363 – 574	212	VWFD
	Domain	629 – 682	54	TIL
Amino acid modifications
	Glycosylation	30	1	N-linked (GlcNAc...) Potential
	Glycosylation	116	1	N-linked (GlcNAc...) Potential
	Glycosylation	247	1	N-linked (GlcNAc...) Potential
	Glycosylation	255	1	N-linked (GlcNAc...) Potential
	Glycosylation	318	1	N-linked (GlcNAc...) Potential
	Glycosylation	441	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	370	1	P → L in DSD. Ref.5		VAR_065823
	Natural variant	555	1	R → W. Corresponds to variant rs10249320 [ dbSNP | Ensembl ].		VAR_028166
Experimental info
	Sequence conflict	79	1	C → R in BAC04712. Ref.2
	Sequence conflict	79	1	C → R in AAH60868. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q8N8U9 [UniParc]. Last modified October 17, 2006. Version 3. Checksum: A5048AADEBF04AB0	FASTA	685	75,997
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00152835.
RefSeq	NP_597725.1. NM_133468.4.
UniGene	Hs.660998. Hs.735847.
3D structure databases
ProteinModelPortal	Q8N8U9.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-47327N.
STRING	9606.ENSP00000297161.
PTM databases
PhosphoSite	Q8N8U9.
Polymorphism databases
DMDM	116241270.
Proteomic databases
PaxDb	Q8N8U9.
PRIDE	Q8N8U9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000297161; ENSP00000297161; ENSG00000164619. ENST00000426693; ENSP00000393950; ENSG00000164619.
GeneID	168667.
KEGG	hsa:168667.
UCSC	uc011kap.2. human.
Organism-specific databases
CTD	168667.
GeneCards	GC07P033944.
HGNC	HGNC:24154. BMPER.
HPA	HPA018083.
MIM	608022. phenotype. 608699. gene.
neXtProt	NX_Q8N8U9.
Orphanet	66637. Diaphanospondylodysostosis.
PharmGKB	PA142672557.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG283828.
HOGENOM	HOG000234284.
HOVERGEN	HBG050704.
InParanoid	Q8N8U9.
OMA	EFCNRPQ.
OrthoDB	EOG4V9TQ6.
Gene expression databases
ArrayExpress	Q8N8U9.
Bgee	Q8N8U9.
CleanEx	HS_BMPER.
Genevestigator	Q8N8U9.
GermOnline	ENSG00000164619. Homo sapiens.
Family and domain databases
InterPro	IPR002919. TIL_dom. IPR014853. Unchr_dom_Cys-rich. IPR001007. VWF_C. IPR001846. VWF_type-D. [Graphical view]
Pfam	PF08742. C8. 1 hit. PF01826. TIL. 1 hit. PF00093. VWC. 2 hits. PF00094. VWD. 1 hit. [Graphical view]
SMART	SM00832. C8. 1 hit. SM00214. VWC. 5 hits. SM00216. VWD. 1 hit. [Graphical view]
SUPFAM	SSF57567. Cysrich_TIL. 1 hit.
PROSITE	PS01208. VWFC_1. 3 hits. PS50184. VWFC_2. 2 hits. PS51233. VWFD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	BMPER. human.
GenomeRNAi	168667.
NextBio	88766.
SOURCE	Search...

Entry information

Entry name

BMPER_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 90 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.