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Entry version 138 (02 Dec 2020)
Sequence version 2 (27 Jun 2006)
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Protein

BEN domain-containing protein 7

Gene

BEND7

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N7W2

<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%5Fand%5Ftaxonomy%5Fsection">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:
BEN domain-containing protein 7
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:BEND7
Synonyms:C10orf30
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 10

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

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EuPathDBi
HostDB:ENSG00000165626.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23514, BEND7

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N7W2

<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>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

Organism-specific databases

DisGeNET

More...
DisGeNETi
222389

Open Targets

More...
OpenTargetsi
ENSG00000165626

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164716578

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N7W2, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BEND7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
109820782

<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 describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002440801 – 519BEN domain-containing protein 7Add BLAST519

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki16Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki56Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki85Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki243Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei324PhosphothreonineCombined sources1
Modified residuei328PhosphoserineCombined sources1

<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 - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N7W2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N7W2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8N7W2

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

More...
PaxDbi
Q8N7W2

PeptideAtlas

More...
PeptideAtlasi
Q8N7W2

PRoteomics IDEntifications database

More...
PRIDEi
Q8N7W2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
72335 [Q8N7W2-1]
72336 [Q8N7W2-2]
72337 [Q8N7W2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N7W2

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

More...
PhosphoSitePlusi
Q8N7W2

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165626, Expressed in kidney epithelium and 197 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N7W2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N7W2, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000165626, Low tissue specificity

<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%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q8N7W2
With#Exp.IntAct
NIF3L1 [Q9GZT8]3EBI-743382,EBI-740897
Isoform 2 [Q8N7W2-2]
With#Exp.IntAct
ANP32B [Q92688]3EBI-10181188,EBI-762428
BANF2 - isoform 2 [Q9H503-2]3EBI-10181188,EBI-11977289
BYSL [Q13895]8EBI-10181188,EBI-358049
C14orf119 [Q9NWQ9]3EBI-10181188,EBI-725606
CDC37 [Q16543]3EBI-10181188,EBI-295634
CDCA7L [Q96GN5]3EBI-10181188,EBI-5278764
CEP44 [Q9C0F1]3EBI-10181188,EBI-744115
CHD2 [O14647]3EBI-10181188,EBI-1210503
CIB3 [Q96Q77]3EBI-10181188,EBI-10292696
CSNK2A1 [P68400]3EBI-10181188,EBI-347804
DDX6 [P26196]3EBI-10181188,EBI-351257
DVL3 [Q92997]5EBI-10181188,EBI-739789
EAF1 [Q96JC9]3EBI-10181188,EBI-769261
EAF2 [Q96CJ1]5EBI-10181188,EBI-1245604
EIF1AD [Q8N9N8]6EBI-10181188,EBI-750700
EMD [P50402]9EBI-10181188,EBI-489887
FAM133A [Q8N9E0]3EBI-10181188,EBI-10268158
GADD45G [O95257]3EBI-10181188,EBI-448202
GEMIN2 [O14893]3EBI-10181188,EBI-443648
GTPBP3 [Q969Y2]3EBI-10181188,EBI-740290
GYS1 [P13807]3EBI-10181188,EBI-740553
HMBOX1 [Q6NT76]3EBI-10181188,EBI-2549423
HSF2BP [O75031]5EBI-10181188,EBI-7116203
KANK2 [Q63ZY3]3EBI-10181188,EBI-2556193
L3MBTL2 [Q969R5]8EBI-10181188,EBI-739909
LMO3 - isoform 4 [Q8TAP4-4]7EBI-10181188,EBI-11742507
LNX1 [Q8TBB1]3EBI-10181188,EBI-739832
LYAR [Q9NX58]3EBI-10181188,EBI-713507
MAGOHB [Q96A72]3EBI-10181188,EBI-746778
MFAP1 [P55081]6EBI-10181188,EBI-1048159
MLX - isoform Beta [Q9UH92-3]3EBI-10181188,EBI-8852072
MORF4L1 [Q9UBU8]3EBI-10181188,EBI-399246
MORF4L2 [Q15014]3EBI-10181188,EBI-399257
NEK6 - isoform 4 [Q9HC98-4]3EBI-10181188,EBI-11750983
NKAPD1 [Q6ZUT1]6EBI-10181188,EBI-3920396
NKAPD1 - isoform 2 [Q6ZUT1-2]3EBI-10181188,EBI-10180231
NOL12 [Q9UGY1]3EBI-10181188,EBI-716098
NUTF2 [P61970]3EBI-10181188,EBI-591778
OSGIN1 [Q9UJX0]3EBI-10181188,EBI-9057006
PBLD [P30039]3EBI-10181188,EBI-750589
PIM1 [P11309]3EBI-10181188,EBI-696621
POLR3GL [Q9BT43]3EBI-10181188,EBI-2855862
PPIG [Q13427]3EBI-10181188,EBI-396072
PPP1R37 [O75864]3EBI-10181188,EBI-5235692
PRMT3 [O60678]3EBI-10181188,EBI-2809009
PRPF40A - isoform 2 [O75400-2]3EBI-10181188,EBI-5280197
PSMB1 [P20618]3EBI-10181188,EBI-372273
RAB7L1 [Q6FGU7]3EBI-10181188,EBI-10249635
RBM10 [P98175]3EBI-10181188,EBI-721525
RIPPLY1 [Q0D2K3]3EBI-10181188,EBI-10226430
RPL22 [P35268]5EBI-10181188,EBI-354533
SCNM1 [Q9BWG6]3EBI-10181188,EBI-748391
SDCBP [O00560]3EBI-10181188,EBI-727004
SMARCA2 - isoform Short [P51531-2]3EBI-10181188,EBI-10212306
SPANXN2 [Q5MJ10]3EBI-10181188,EBI-12023934
THAP1 [Q9NVV9]3EBI-10181188,EBI-741515
TLK1 [Q9UKI8]3EBI-10181188,EBI-740492
TNPO2 - isoform 2 [O14787-2]3EBI-10181188,EBI-12076664
TRIM26 [Q12899]3EBI-10181188,EBI-2341136
UBL5 [Q9BZL1]3EBI-10181188,EBI-607755
USP20 [A0A024R8A9]5EBI-10181188,EBI-14096082
USP20 [Q9Y2K6]3EBI-10181188,EBI-2511991
VCX2 [Q3SXR9]5EBI-10181188,EBI-11983741
WHRN [Q9P202]3EBI-10181188,EBI-310886
ZCCHC10 [Q8TBK6]3EBI-10181188,EBI-597063
ZNF622 [Q969S3]3EBI-10181188,EBI-2687480

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
128797, 91 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N7W2, 86 interactors

Molecular INTeraction database

More...
MINTi
Q8N7W2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000345773

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N7W2, protein

<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
Q8N7W2

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%5Fand%5Fdomains%5Fsection">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>Domaini287 – 392BENPROSITE-ProRule annotationAdd BLAST106

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi217 – 220Poly-Lys4

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QQVD, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162606

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_043816_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N7W2

Identification of Orthologs from Complete Genome Data

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OMAi
SVGPNCC

Database of Orthologous Groups

More...
OrthoDBi
652532at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N7W2

TreeFam database of animal gene trees

More...
TreeFami
TF332993

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR018379, BEN_domain

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10523, BEN, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01025, BEN, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51457, BEN, 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%5Flength">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>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N7W2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEFSERKRSR KSQSFKLVSR DYHHEVYKIP EFSNDVNGEA KETQPIFLGD
60 70 80 90 100
ESMEIKKQIT GMRRLLNDST GRIYQRVGKE GEKLKEEPQD LDLVWPPRLN
110 120 130 140 150
SSAEAPQSLH PSSRGVWNEL PPQSGQFSGQ YGTRSRTFQS QPHPTTSSNG
160 170 180 190 200
ELPVVNSSAG SNCCTCNCQS TLQAILQELK TMRKLMQIQA VGTQNRQQPP
210 220 230 240 250
ISLICSQRTA VSRKRNKKKK VPPKTVEPLT VKQKPSGSEM EKKSVVASEL
260 270 280 290 300
SALQAAEHTS PEESRVLGFG IVLESPSSDP EVQLAEGFDV FMPKSQLDSI
310 320 330 340 350
LSNYTRSGSL LFRKLVCAFF DDKTLANSLP NGKRKRGLND NRKGLDQNIV
360 370 380 390 400
GAIKVFTEKY CTANHVDKLP GPRDWVQILQ DQIKLARRRL KRGSEIADSD
410 420 430 440 450
ERLDGIALPP TGACGGPCTV LPGGSAAVTL VLQSSPQTMS QEKGQMAEPW
460 470 480 490 500
EEQHLVLLNN LTRDRAETGA LSQTSQDFKH HSFLITQVSA TLHHQRGIRN
510
FPTPGSAKSL TLHISCLSL
Length:519
Mass (Da):57,549
Last modified:June 27, 2006 - v2
<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:i28DCC0E7A21FADA8
GO
Isoform 2 (identifier: Q8N7W2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.
     149-149: N → NGMVVNKHSEGSHG
     412-413: GA → VV
     414-519: Missing.

Show »
Length:374
Mass (Da):41,365
Checksum:i577A783B89AEA087
GO
Isoform 3 (identifier: Q8N7W2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.
     394-394: S → SA

Show »
Length:468
Mass (Da):51,461
Checksum:i6CB4D4728BA7575C
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IU36A0A3B3IU36_HUMAN
BEN domain-containing protein 7
BEND7
320Annotation 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>
A0A0A0MSS7A0A0A0MSS7_HUMAN
BEN domain-containing protein 7
BEND7
117Annotation 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>

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 conflicti503T → A in BAC05114 (PubMed:14702039).Curated1

Natural variant

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_035501313R → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_057830341N → S. Corresponds to variant dbSNP:rs12247033Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0398461 – 52Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST52
Alternative sequenceiVSP_019506149N → NGMVVNKHSEGSHG in isoform 2. 1 Publication1
Alternative sequenceiVSP_039847394S → SA in isoform 3. 1 Publication1
Alternative sequenceiVSP_019507412 – 413GA → VV in isoform 2. 1 Publication2
Alternative sequenceiVSP_019508414 – 519Missing in isoform 2. 1 PublicationAdd BLAST106

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK097602 mRNA Translation: BAC05114.1
AL359172 Genomic DNA No translation available.
AL590677 Genomic DNA No translation available.
BC031618 mRNA Translation: AAH31618.1
CD300572 mRNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS41490.1 [Q8N7W2-2]
CCDS7099.1 [Q8N7W2-3]

NCBI Reference Sequences

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RefSeqi
NP_001094382.1, NM_001100912.1 [Q8N7W2-2]
NP_689964.2, NM_152751.2 [Q8N7W2-3]
XP_011517694.1, XM_011519392.2 [Q8N7W2-1]
XP_011517713.1, XM_011519411.2 [Q8N7W2-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000341083; ENSP00000345773; ENSG00000165626 [Q8N7W2-3]
ENST00000378605; ENSP00000367868; ENSG00000165626 [Q8N7W2-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
222389

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:222389

UCSC genome browser

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UCSCi
uc001imm.3, human [Q8N7W2-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AK097602 mRNA Translation: BAC05114.1
AL359172 Genomic DNA No translation available.
AL590677 Genomic DNA No translation available.
BC031618 mRNA Translation: AAH31618.1
CD300572 mRNA No translation available.
CCDSiCCDS41490.1 [Q8N7W2-2]
CCDS7099.1 [Q8N7W2-3]
RefSeqiNP_001094382.1, NM_001100912.1 [Q8N7W2-2]
NP_689964.2, NM_152751.2 [Q8N7W2-3]
XP_011517694.1, XM_011519392.2 [Q8N7W2-1]
XP_011517713.1, XM_011519411.2 [Q8N7W2-2]

3D structure databases

SMRiQ8N7W2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi128797, 91 interactors
IntActiQ8N7W2, 86 interactors
MINTiQ8N7W2
STRINGi9606.ENSP00000345773

PTM databases

iPTMnetiQ8N7W2
PhosphoSitePlusiQ8N7W2

Polymorphism and mutation databases

BioMutaiBEND7
DMDMi109820782

Proteomic databases

EPDiQ8N7W2
jPOSTiQ8N7W2
MassIVEiQ8N7W2
PaxDbiQ8N7W2
PeptideAtlasiQ8N7W2
PRIDEiQ8N7W2
ProteomicsDBi72335 [Q8N7W2-1]
72336 [Q8N7W2-2]
72337 [Q8N7W2-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
44073, 127 antibodies

The DNASU plasmid repository

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DNASUi
222389

Genome annotation databases

EnsembliENST00000341083; ENSP00000345773; ENSG00000165626 [Q8N7W2-3]
ENST00000378605; ENSP00000367868; ENSG00000165626 [Q8N7W2-2]
GeneIDi222389
KEGGihsa:222389
UCSCiuc001imm.3, human [Q8N7W2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
222389
DisGeNETi222389
EuPathDBiHostDB:ENSG00000165626.16

GeneCards: human genes, protein and diseases

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GeneCardsi
BEND7
HGNCiHGNC:23514, BEND7
HPAiENSG00000165626, Low tissue specificity
neXtProtiNX_Q8N7W2
OpenTargetsiENSG00000165626
PharmGKBiPA164716578

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QQVD, Eukaryota
GeneTreeiENSGT00940000162606
HOGENOMiCLU_043816_1_0_1
InParanoidiQ8N7W2
OMAiSVGPNCC
OrthoDBi652532at2759
PhylomeDBiQ8N7W2
TreeFamiTF332993

Enzyme and pathway databases

PathwayCommonsiQ8N7W2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
222389, 4 hits in 841 CRISPR screens

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

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ChiTaRSi
BEND7, human

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

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GenomeRNAii
222389
PharosiQ8N7W2, Tdark

Protein Ontology

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PROi
PR:Q8N7W2
RNActiQ8N7W2, protein

Gene expression databases

BgeeiENSG00000165626, Expressed in kidney epithelium and 197 other tissues
ExpressionAtlasiQ8N7W2, baseline and differential
GenevisibleiQ8N7W2, HS

Family and domain databases

InterProiView protein in InterPro
IPR018379, BEN_domain
PfamiView protein in Pfam
PF10523, BEN, 1 hit
SMARTiView protein in SMART
SM01025, BEN, 1 hit
PROSITEiView protein in PROSITE
PS51457, BEN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiBEND7_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: Q8N7W2
Secondary accession number(s): Q5SYY7
, Q5SYY8, Q5SYY9, Q8N5T7
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: December 2, 2020
This is version 138 of the entry and version 2 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

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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