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Protein

Cell death regulator Aven

Gene

AVEN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Protects against apoptosis mediated by Apaf-1.

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • negative regulation of apoptotic process Source: UniProtKB

Keywordsi

Biological processApoptosis

Names & Taxonomyi

Protein namesi
Recommended name:
Cell death regulator Aven
Gene namesi
Name:AVEN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000169857.7
HGNCiHGNC:13509 AVEN
MIMi605265 gene
neXtProtiNX_Q9NQS1

Subcellular locationi

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi57099
OpenTargetsiENSG00000169857
PharmGKBiPA134874337

Polymorphism and mutation databases

BioMutaiAVEN
DMDMi20454834

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000647681 – 362Cell death regulator AvenAdd BLAST362

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei94PhosphoserineCombined sources1
Modified residuei230N6-methyllysineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ9NQS1
MaxQBiQ9NQS1
PaxDbiQ9NQS1
PeptideAtlasiQ9NQS1
PRIDEiQ9NQS1
ProteomicsDBi82177

PTM databases

iPTMnetiQ9NQS1
PhosphoSitePlusiQ9NQS1

Miscellaneous databases

PMAP-CutDBiQ9NQS1

Expressioni

Tissue specificityi

Highly expressed in testis, ovary, thymus, prostate, spleen, small intestine, colon, heart, skeletal muscle, liver, kidney and pancreas.

Gene expression databases

BgeeiENSG00000169857 Expressed in 197 organ(s), highest expression level in heart left ventricle
CleanExiHS_AVEN
ExpressionAtlasiQ9NQS1 baseline and differential
GenevisibleiQ9NQS1 HS

Organism-specific databases

HPAiHPA020863

Interactioni

Subunit structurei

Binds Apaf-1, BCL-2 and BAD (Bcl-xl).

Protein-protein interaction databases

BioGridi121366, 10 interactors
IntActiQ9NQS1, 5 interactors
MINTiQ9NQS1
STRINGi9606.ENSP00000306822

Structurei

3D structure databases

ProteinModelPortaliQ9NQS1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi5 – 85Ala/Gly-richAdd BLAST81

Phylogenomic databases

eggNOGiENOG410IKTA Eukaryota
ENOG4111U7Z LUCA
GeneTreeiENSGT00390000003299
HOGENOMiHOG000231429
HOVERGENiHBG024370
InParanoidiQ9NQS1
OMAiCPKQNSA
OrthoDBiEOG091G0N3H
PhylomeDBiQ9NQS1
TreeFamiTF332067

Family and domain databases

InterProiView protein in InterPro
IPR026187 Aven
PANTHERiPTHR16524 PTHR16524, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9NQS1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQAERGARGG RGRRPGRGRP GGDRHSERPG AAAAVARGGG GGGGGDGGGR
60 70 80 90 100
RGRGRGRGFR GARGGRGGGG APRGSRREPG GWGAGASAPV EDDSDAETYG
110 120 130 140 150
EENDEQGNYS KRKIVSNWDR YQDIEKEVNN ESGESQRGTD FSVLLSSAGD
160 170 180 190 200
SFSQFRFAEE KEWDSEASCP KQNSAFYVDS ELLVRALQEL PLCLRLNVAA
210 220 230 240 250
ELVQGTVPLE VPQVKPKRTD DGKGLGMQLK GPLGPGGRGP IFELKSVAAG
260 270 280 290 300
CPVLLGKDNP SPGPSRDSQK PTSPLQSAGD HLEEELDLLL NLDAPIKEGD
310 320 330 340 350
NILPDQTSQD LKSKEDGEVV QEEEVCAKPS VTEEKNMEPE QPSTSKNVTE
360
EELEDWLDSM IS
Length:362
Mass (Da):38,506
Last modified:October 1, 2000 - v1
Checksum:iD86517BA087232D4
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YKR0H0YKR0_HUMAN
Cell death regulator Aven
AVEN
59Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020144228Q → R. Corresponds to variant dbSNP:rs2241647Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF283508 mRNA Translation: AAF91470.1
BC010488 mRNA Translation: AAH10488.1
BC063533 mRNA Translation: AAH63533.1
CCDSiCCDS10030.1
RefSeqiNP_065104.1, NM_020371.2
UniGeneiHs.555966

Genome annotation databases

EnsembliENST00000306730; ENSP00000306822; ENSG00000169857
GeneIDi57099
KEGGihsa:57099
UCSCiuc001zhj.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF283508 mRNA Translation: AAF91470.1
BC010488 mRNA Translation: AAH10488.1
BC063533 mRNA Translation: AAH63533.1
CCDSiCCDS10030.1
RefSeqiNP_065104.1, NM_020371.2
UniGeneiHs.555966

3D structure databases

ProteinModelPortaliQ9NQS1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121366, 10 interactors
IntActiQ9NQS1, 5 interactors
MINTiQ9NQS1
STRINGi9606.ENSP00000306822

PTM databases

iPTMnetiQ9NQS1
PhosphoSitePlusiQ9NQS1

Polymorphism and mutation databases

BioMutaiAVEN
DMDMi20454834

Proteomic databases

EPDiQ9NQS1
MaxQBiQ9NQS1
PaxDbiQ9NQS1
PeptideAtlasiQ9NQS1
PRIDEiQ9NQS1
ProteomicsDBi82177

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306730; ENSP00000306822; ENSG00000169857
GeneIDi57099
KEGGihsa:57099
UCSCiuc001zhj.4 human

Organism-specific databases

CTDi57099
DisGeNETi57099
EuPathDBiHostDB:ENSG00000169857.7
GeneCardsiAVEN
HGNCiHGNC:13509 AVEN
HPAiHPA020863
MIMi605265 gene
neXtProtiNX_Q9NQS1
OpenTargetsiENSG00000169857
PharmGKBiPA134874337
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKTA Eukaryota
ENOG4111U7Z LUCA
GeneTreeiENSGT00390000003299
HOGENOMiHOG000231429
HOVERGENiHBG024370
InParanoidiQ9NQS1
OMAiCPKQNSA
OrthoDBiEOG091G0N3H
PhylomeDBiQ9NQS1
TreeFamiTF332067

Miscellaneous databases

ChiTaRSiAVEN human
GenomeRNAii57099
PMAP-CutDBiQ9NQS1
PROiPR:Q9NQS1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169857 Expressed in 197 organ(s), highest expression level in heart left ventricle
CleanExiHS_AVEN
ExpressionAtlasiQ9NQS1 baseline and differential
GenevisibleiQ9NQS1 HS

Family and domain databases

InterProiView protein in InterPro
IPR026187 Aven
PANTHERiPTHR16524 PTHR16524, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAVEN_HUMAN
AccessioniPrimary (citable) accession number: Q9NQS1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: October 1, 2000
Last modified: September 12, 2018
This is version 131 of the entry and version 1 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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