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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-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
BEN domain-containing protein 7
Gene namesi
Name:BEND7
Synonyms:C10orf30
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23514. BEND7.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000165626.
PharmGKBiPA164716578.

Polymorphism and mutation databases

BioMutaiBEND7.
DMDMi109820782.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002440801 – 519BEN domain-containing protein 7Add BLAST519

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei324PhosphothreonineCombined sources1
Modified residuei328PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8N7W2.
PeptideAtlasiQ8N7W2.
PRIDEiQ8N7W2.

PTM databases

iPTMnetiQ8N7W2.
PhosphoSitePlusiQ8N7W2.

Expressioni

Gene expression databases

BgeeiENSG00000165626.
CleanExiHS_BEND7.
ExpressionAtlasiQ8N7W2. baseline and differential.
GenevisibleiQ8N7W2. HS.

Organism-specific databases

HPAiHPA037835.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi128797. 38 interactors.
IntActiQ8N7W2. 81 interactors.
MINTiMINT-7034572.
STRINGi9606.ENSP00000345773.

Structurei

3D structure databases

ProteinModelPortaliQ8N7W2.
SMRiQ8N7W2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini287 – 392BENPROSITE-ProRule annotationAdd BLAST106

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi217 – 220Poly-Lys4

Phylogenomic databases

eggNOGiENOG410IGCJ. Eukaryota.
ENOG410XQ7C. LUCA.
GeneTreeiENSGT00390000004595.
HOGENOMiHOG000231662.
HOVERGENiHBG080388.
InParanoidiQ8N7W2.
OMAiSKTFQNQ.
OrthoDBiEOG091G08TA.
PhylomeDBiQ8N7W2.
TreeFamiTF332993.

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.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

Sequence cautioni

The sequence CAI12222 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI12223 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI12660 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI12661 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti503T → A in BAC05114 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
EMBLi
GenBanki
DDBJi
Links Updated
AK097602 mRNA. Translation: BAC05114.1.
AL359172, AL590677 Genomic DNA. Translation: CAI12222.1. Sequence problems.
AL359172, AL590677 Genomic DNA. Translation: CAI12223.1. Sequence problems.
AL359172, AL590677 Genomic DNA. Translation: CAI12224.1.
AL590677, AL359172 Genomic DNA. Translation: CAI12660.1. Sequence problems.
AL590677, AL359172 Genomic DNA. Translation: CAI12661.1. Sequence problems.
AL590677, AL359172 Genomic DNA. Translation: CAI12662.1.
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]
UniGeneiHs.498740.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097602 mRNA. Translation: BAC05114.1.
AL359172, AL590677 Genomic DNA. Translation: CAI12222.1. Sequence problems.
AL359172, AL590677 Genomic DNA. Translation: CAI12223.1. Sequence problems.
AL359172, AL590677 Genomic DNA. Translation: CAI12224.1.
AL590677, AL359172 Genomic DNA. Translation: CAI12660.1. Sequence problems.
AL590677, AL359172 Genomic DNA. Translation: CAI12661.1. Sequence problems.
AL590677, AL359172 Genomic DNA. Translation: CAI12662.1.
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]
UniGeneiHs.498740.

3D structure databases

ProteinModelPortaliQ8N7W2.
SMRiQ8N7W2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128797. 38 interactors.
IntActiQ8N7W2. 81 interactors.
MINTiMINT-7034572.
STRINGi9606.ENSP00000345773.

PTM databases

iPTMnetiQ8N7W2.
PhosphoSitePlusiQ8N7W2.

Polymorphism and mutation databases

BioMutaiBEND7.
DMDMi109820782.

Proteomic databases

PaxDbiQ8N7W2.
PeptideAtlasiQ8N7W2.
PRIDEiQ8N7W2.

Protocols and materials databases

DNASUi222389.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi222389.
GeneCardsiBEND7.
H-InvDBiHIX0008656.
HGNCiHGNC:23514. BEND7.
HPAiHPA037835.
neXtProtiNX_Q8N7W2.
OpenTargetsiENSG00000165626.
PharmGKBiPA164716578.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGCJ. Eukaryota.
ENOG410XQ7C. LUCA.
GeneTreeiENSGT00390000004595.
HOGENOMiHOG000231662.
HOVERGENiHBG080388.
InParanoidiQ8N7W2.
OMAiSKTFQNQ.
OrthoDBiEOG091G08TA.
PhylomeDBiQ8N7W2.
TreeFamiTF332993.

Miscellaneous databases

GenomeRNAii222389.
PROiPR:Q8N7W2.

Gene expression databases

BgeeiENSG00000165626.
CleanExiHS_BEND7.
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.
ProtoNetiSearch...

Entry informationi

Entry nameiBEND7_HUMAN
AccessioniPrimary (citable) accession number: Q8N7W2
Secondary accession number(s): Q5SYY7
, Q5SYY8, Q5SYY9, Q8N5T7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: March 15, 2017
This is version 112 of the entry and version 2 of the sequence. See 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 10
    Human chromosome 10: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.