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Entry version 134 (08 May 2019)
Sequence version 3 (17 Oct 2006)
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Protein

BMP-binding endothelial regulator protein

Gene

BMPER

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BMPER
Synonyms:KIAA1965
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24154 BMPER

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608699 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N8U9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Diaphanospondylodysostosis (DSD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065823370P → L in DSD. 1 PublicationCorresponds to variant dbSNP:rs387906993EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
168667

MalaCards human disease database

More...
MalaCardsi
BMPER
MIMi608022 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164619

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
66637 Diaphanospondylodysostosis
85200 Ischiovertebral syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672557

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BMPER

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116241270

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 39Sequence analysisAdd BLAST39
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002082040 – 685BMP-binding endothelial regulator proteinAdd BLAST646

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi116N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi247N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi255N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi318N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi441N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N8U9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8N8U9

PeptideAtlas

More...
PeptideAtlasi
Q8N8U9

PRoteomics IDEntifications database

More...
PRIDEi
Q8N8U9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
72462

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N8U9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N8U9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164619 Expressed in 108 organ(s), highest expression level in lung

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N8U9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N8U9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA018083

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with BMP4.

By similarity

Protein-protein interaction databases

Database of interacting proteins

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DIPi
DIP-47327N

Protein interaction database and analysis system

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IntActi
Q8N8U9, 1 interactor

Molecular INTeraction database

More...
MINTi
Q8N8U9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000297161

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8N8U9

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini50 – 105VWFC 1PROSITE-ProRule annotationAdd BLAST56
Domaini108 – 163VWFC 2PROSITE-ProRule annotationAdd BLAST56
Domaini164 – 225VWFC 3PROSITE-ProRule annotationAdd BLAST62
Domaini238 – 289VWFC 4PROSITE-ProRule annotationAdd BLAST52
Domaini299 – 358VWFC 5PROSITE-ProRule annotationAdd BLAST60
Domaini363 – 574VWFDPROSITE-ProRule annotationAdd BLAST212
Domaini629 – 682TILAdd BLAST54

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR8G Eukaryota
ENOG410XW0S LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156485

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000234284

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N8U9

Identification of Orthologs from Complete Genome Data

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OMAi
WHFANSW

Database of Orthologous Groups

More...
OrthoDBi
1104860at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N8U9

TreeFam database of animal gene trees

More...
TreeFami
TF343473

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036084 Ser_inhib-like_sf
IPR002919 TIL_dom
IPR014853 Unchr_dom_Cys-rich
IPR001007 VWF_dom
IPR001846 VWF_type-D

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08742 C8, 1 hit
PF01826 TIL, 1 hit
PF00093 VWC, 2 hits
PF00094 VWD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00832 C8, 1 hit
SM00214 VWC, 5 hits
SM00216 VWD, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57567 SSF57567, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01208 VWFC_1, 3 hits
PS50184 VWFC_2, 2 hits
PS51233 VWFD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 18 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA5048AADEBF04AB0
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 18 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ITW7A0A3B3ITW7_HUMAN
BMP-binding endothelial regulator p...
BMPER
575Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WDG9F8WDG9_HUMAN
BMP-binding endothelial regulator p...
BMPER
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITY4A0A3B3ITY4_HUMAN
BMP-binding endothelial regulator p...
BMPER
650Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITZ8A0A3B3ITZ8_HUMAN
BMP-binding endothelial regulator p...
BMPER
627Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISL7A0A3B3ISL7_HUMAN
BMP-binding endothelial regulator p...
BMPER
592Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRP7A0A3B3IRP7_HUMAN
BMP-binding endothelial regulator p...
BMPER
291Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISN0A0A3B3ISN0_HUMAN
BMP-binding endothelial regulator p...
BMPER
222Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IUD9A0A3B3IUD9_HUMAN
BMP-binding endothelial regulator p...
BMPER
291Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRQ4A0A3B3IRQ4_HUMAN
BMP-binding endothelial regulator p...
BMPER
165Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITU0A0A3B3ITU0_HUMAN
BMP-binding endothelial regulator p...
BMPER
145Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti79C → R in BAC04712 (PubMed:14702039).Curated1
Sequence conflicti79C → R in AAH60868 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065823370P → L in DSD. 1 PublicationCorresponds to variant dbSNP:rs387906993EnsemblClinVar.1
Natural variantiVAR_028166555R → W. Corresponds to variant dbSNP:rs10249320EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5442.1

NCBI Reference Sequences

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RefSeqi
NP_597725.1, NM_133468.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000297161; ENSP00000297161; ENSG00000164619
ENST00000649409; ENSP00000497748; ENSG00000164619

Database of genes from NCBI RefSeq genomes

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GeneIDi
168667

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:168667

UCSC genome browser

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UCSCi
uc011kap.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

SMRiQ8N8U9
ModBaseiSearch...

Protein-protein interaction databases

DIPiDIP-47327N
IntActiQ8N8U9, 1 interactor
MINTiQ8N8U9
STRINGi9606.ENSP00000297161

PTM databases

iPTMnetiQ8N8U9
PhosphoSitePlusiQ8N8U9

Polymorphism and mutation databases

BioMutaiBMPER
DMDMi116241270

Proteomic databases

jPOSTiQ8N8U9
PaxDbiQ8N8U9
PeptideAtlasiQ8N8U9
PRIDEiQ8N8U9
ProteomicsDBi72462

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297161; ENSP00000297161; ENSG00000164619
ENST00000649409; ENSP00000497748; ENSG00000164619
GeneIDi168667
KEGGihsa:168667
UCSCiuc011kap.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
168667
DisGeNETi168667

GeneCards: human genes, protein and diseases

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GeneCardsi
BMPER
HGNCiHGNC:24154 BMPER
HPAiHPA018083
MalaCardsiBMPER
MIMi608022 phenotype
608699 gene
neXtProtiNX_Q8N8U9
OpenTargetsiENSG00000164619
Orphaneti66637 Diaphanospondylodysostosis
85200 Ischiovertebral syndrome
PharmGKBiPA142672557

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR8G Eukaryota
ENOG410XW0S LUCA
GeneTreeiENSGT00940000156485
HOGENOMiHOG000234284
InParanoidiQ8N8U9
OMAiWHFANSW
OrthoDBi1104860at2759
PhylomeDBiQ8N8U9
TreeFamiTF343473

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
BMPER human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BMPER

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
168667

Protein Ontology

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PROi
PR:Q8N8U9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164619 Expressed in 108 organ(s), highest expression level in lung
ExpressionAtlasiQ8N8U9 baseline and differential
GenevisibleiQ8N8U9 HS

Family and domain databases

InterProiView protein in InterPro
IPR036084 Ser_inhib-like_sf
IPR002919 TIL_dom
IPR014853 Unchr_dom_Cys-rich
IPR001007 VWF_dom
IPR001846 VWF_type-D
PfamiView protein in Pfam
PF08742 C8, 1 hit
PF01826 TIL, 1 hit
PF00093 VWC, 2 hits
PF00094 VWD, 1 hit
SMARTiView protein in SMART
SM00832 C8, 1 hit
SM00214 VWC, 5 hits
SM00216 VWD, 1 hit
SUPFAMiSSF57567 SSF57567, 1 hit
PROSITEiView protein in PROSITE
PS01208 VWFC_1, 3 hits
PS50184 VWFC_2, 2 hits
PS51233 VWFD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBMPER_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N8U9
Secondary accession number(s): A8K1P8, Q8TF36
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: October 17, 2006
Last modified: May 8, 2019
This is version 134 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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