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Protein

Autophagy-related protein 9B

Gene

ATG9B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Autophagy

Enzyme and pathway databases

ReactomeiR-HSA-1632852. Macroautophagy.

Names & Taxonomyi

Protein namesi
Recommended name:
Autophagy-related protein 9B
Alternative name(s):
APG9-like 2
Nitric oxide synthase 3-overlapping antisense gene protein
Short name:
Protein sONE
Gene namesi
Name:ATG9B
Synonyms:APG9L2, NOS3AS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:21899. ATG9B.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 207CytoplasmicBy similarityAdd BLAST207
Transmembranei208 – 228HelicalSequence analysisAdd BLAST21
Topological domaini229 – 276LumenalBy similarityAdd BLAST48
Transmembranei277 – 297HelicalSequence analysisAdd BLAST21
Topological domaini298 – 438CytoplasmicBy similarityAdd BLAST141
Transmembranei439 – 459HelicalSequence analysisAdd BLAST21
Topological domaini460 – 526LumenalBy similarityAdd BLAST67
Transmembranei527 – 547HelicalSequence analysisAdd BLAST21
Topological domaini548 – 551CytoplasmicBy similarity4
Transmembranei552 – 572HelicalSequence analysisAdd BLAST21
Topological domaini573 – 624LumenalBy similarityAdd BLAST52
Transmembranei625 – 645HelicalSequence analysisAdd BLAST21
Topological domaini646 – 924CytoplasmicBy similarityAdd BLAST279

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi285973.
OpenTargetsiENSG00000181652.
PharmGKBiPA134883165.

Polymorphism and mutation databases

BioMutaiATG9B.
DMDMi74708555.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003148671 – 924Autophagy-related protein 9BAdd BLAST924

Proteomic databases

EPDiQ674R7.
MaxQBiQ674R7.
PeptideAtlasiQ674R7.
PRIDEiQ674R7.

PTM databases

iPTMnetiQ674R7.
PhosphoSitePlusiQ674R7.

Expressioni

Tissue specificityi

Highly expressed in placenta (trophoblast cells) and pituitary gland. Not expressed in vascular endothelial.1 Publication

Inductioni

By hypoxia, leading to inhibit NOS3 expression.1 Publication

Gene expression databases

BgeeiENSG00000181652.
CleanExiHS_ATG9B.
GenevisibleiQ674R7. HS.

Interactioni

Protein-protein interaction databases

BioGridi130263. 3 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ674R7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi22 – 147Pro-richAdd BLAST126

Sequence similaritiesi

Belongs to the ATG9 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00390000014839.
HOVERGENiHBG050539.
InParanoidiQ674R7.
KOiK17907.
OMAiGQFIFIV.
OrthoDBiEOG091G01WQ.
PhylomeDBiQ674R7.

Family and domain databases

InterProiIPR007241. Autophagy-rel_prot_9.
[Graphical view]
PANTHERiPTHR13038. PTHR13038. 1 hit.
PfamiPF04109. APG9. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q674R7-1) [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
MVSRMGWGGR RRRLGRWGDL GPGSVPLLPM PLPPPPPPSC RGPGGGRISI
60 70 80 90 100
FSLSPAPHTR SSPSSFSPPT AGPPCSVLQG TGASQSCHSA LPIPATPPTQ
110 120 130 140 150
AQPAMTPASA SPSWGSHSTP PLAPATPTPS QQCPQDSPGL RVGPLIPEQD
160 170 180 190 200
YERLEDCDPE GSQDSPIHGE EQQPLLHVPE GLRGSWHHIQ NLDSFFTKIY
210 220 230 240 250
SYHQRNGFAC ILLEDVFQLG QFIFIVTFTT FLLRCVDYNV LFANQPSNHT
260 270 280 290 300
RPGPFHSKVT LSDAILPSAQ CAERIRSSPL LVLLLVLAAG FWLVQLLRSV
310 320 330 340 350
CNLFSYWDIQ VFYREALHIP PEELSSVPWA EVQSRLLALQ RSGGLCVQPR
360 370 380 390 400
PLTELDIHHR ILRYTNYQVA LANKGLLPAR CPLPWGGSAA FLSRGLALNV
410 420 430 440 450
DLLLFRGPFS LFRGGWELPH AYKRSDQRGA LAARWGRTVL LLAALNLALS
460 470 480 490 500
PLVLAWQVLH VFYSHVELLR REPGALGARG WSRLARLQLR HFNELPHELR
510 520 530 540 550
ARLARAYRPA AAFLRTAAPP APLRTLLARQ LVFFAGALFA ALLVLTVYDE
560 570 580 590 600
DVLAVEHVLT AMTALGVTAT VARSFIPEEQ CQGRAPQLLL QTALAHMHYL
610 620 630 640 650
PEEPGPGGRD RAYRQMAQLL QYRAVSLLEE LLSPLLTPLF LLFWFRPRAL
660 670 680 690 700
EIIDFFHHFT VDVAGVGDIC SFALMDVKRH GHPQWLSAGQ TEASLSQRAE
710 720 730 740 750
DGKTELSLMR FSLAHPLWRP PGHSSKFLGH LWGRVQQDAA AWGATSARGP
760 770 780 790 800
STPGVLSNCT SPLPEAFLAN LFVHPLLPPR DLSPTAPCPA AATASLLASI
810 820 830 840 850
SRIAQDPSSV SPGGTGGQKL AQLPELASAE MSLHVIYLHQ LHQQQQQQEP
860 870 880 890 900
WGEAAASILS RPCSSPSQPP SPDEEKPSWS SDGSSPASSP RQQWGTQKAR
910 920
NLFPGGFQVT TDTQKEPDRA SCTD
Length:924
Mass (Da):101,019
Last modified:October 11, 2004 - v1
Checksum:i80C242069DF3D91E
GO
Isoform 2 (identifier: Q674R7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-514: Missing.
     515-572: RTAAPPAPLR...TALGVTATVA → MPSYPQPSVL...CFTGRPCTSP

Note: No experimental confirmation available.
Show »
Length:410
Mass (Da):44,503
Checksum:iAFE1C6C1A626DE02
GO
Isoform 3 (identifier: Q674R7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     322-340: EELSSVPWAEVQSRLLALQ → GKGREDTGMYWRGQPGGLD
     341-924: Missing.

Note: No experimental confirmation available.
Show »
Length:340
Mass (Da):36,989
Checksum:iF0658A43335CB06E
GO

Sequence cautioni

The sequence AAQ86941 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AC010973 differs from that shown. Reason: Frameshift at position 766.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti12R → K in BAC04853 (PubMed:14702039).Curated1
Sequence conflicti751S → P in AAQ86941 (PubMed:15234981).Curated1
Sequence conflicti752T → P in AAQ86941 (PubMed:15234981).Curated1
Sequence conflicti760T → A in AAQ86941 (PubMed:15234981).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061030166P → L.Corresponds to variant rs61078191dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0304101 – 514Missing in isoform 2. 1 PublicationAdd BLAST514
Alternative sequenceiVSP_030411322 – 340EELSS…LLALQ → GKGREDTGMYWRGQPGGLD in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_030412341 – 924Missing in isoform 3. 1 PublicationAdd BLAST584
Alternative sequenceiVSP_030413515 – 572RTAAP…TATVA → MPSYPQPSVLRGSAPARCWS SSWSWLPASGWSNCFAQSAT SSATGTSRCFTGRPCTSP in isoform 2. 1 PublicationAdd BLAST58

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY515311 mRNA. Translation: AAS87212.1.
AY316116 mRNA. Translation: AAQ86941.1. Different initiation.
AK096734 mRNA. Translation: BAC04853.1.
AC010973 Genomic DNA. No translation available.
BC128587 mRNA. Translation: AAI28588.1.
BK004019 mRNA. Translation: DAA05200.1.
CCDSiCCDS83242.1. [Q674R7-1]
RefSeqiNP_001303985.1. NM_001317056.1. [Q674R7-1]
XP_011514367.1. XM_011516065.1. [Q674R7-1]
XP_011514368.1. XM_011516066.2. [Q674R7-1]
UniGeneiHs.707300.
Hs.716846.

Genome annotation databases

EnsembliENST00000469530; ENSP00000479879; ENSG00000181652. [Q674R7-1]
ENST00000605952; ENSP00000475737; ENSG00000181652. [Q674R7-1]
GeneIDi285973.
KEGGihsa:285973.
UCSCiuc064jfi.1. human. [Q674R7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY515311 mRNA. Translation: AAS87212.1.
AY316116 mRNA. Translation: AAQ86941.1. Different initiation.
AK096734 mRNA. Translation: BAC04853.1.
AC010973 Genomic DNA. No translation available.
BC128587 mRNA. Translation: AAI28588.1.
BK004019 mRNA. Translation: DAA05200.1.
CCDSiCCDS83242.1. [Q674R7-1]
RefSeqiNP_001303985.1. NM_001317056.1. [Q674R7-1]
XP_011514367.1. XM_011516065.1. [Q674R7-1]
XP_011514368.1. XM_011516066.2. [Q674R7-1]
UniGeneiHs.707300.
Hs.716846.

3D structure databases

ProteinModelPortaliQ674R7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130263. 3 interactors.

PTM databases

iPTMnetiQ674R7.
PhosphoSitePlusiQ674R7.

Polymorphism and mutation databases

BioMutaiATG9B.
DMDMi74708555.

Proteomic databases

EPDiQ674R7.
MaxQBiQ674R7.
PeptideAtlasiQ674R7.
PRIDEiQ674R7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000469530; ENSP00000479879; ENSG00000181652. [Q674R7-1]
ENST00000605952; ENSP00000475737; ENSG00000181652. [Q674R7-1]
GeneIDi285973.
KEGGihsa:285973.
UCSCiuc064jfi.1. human. [Q674R7-1]

Organism-specific databases

CTDi285973.
DisGeNETi285973.
GeneCardsiATG9B.
H-InvDBHIX0007219.
HGNCiHGNC:21899. ATG9B.
MIMi612205. gene.
neXtProtiNX_Q674R7.
OpenTargetsiENSG00000181652.
PharmGKBiPA134883165.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000014839.
HOVERGENiHBG050539.
InParanoidiQ674R7.
KOiK17907.
OMAiGQFIFIV.
OrthoDBiEOG091G01WQ.
PhylomeDBiQ674R7.

Enzyme and pathway databases

ReactomeiR-HSA-1632852. Macroautophagy.

Miscellaneous databases

GenomeRNAii285973.
PROiQ674R7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181652.
CleanExiHS_ATG9B.
GenevisibleiQ674R7. HS.

Family and domain databases

InterProiIPR007241. Autophagy-rel_prot_9.
[Graphical view]
PANTHERiPTHR13038. PTHR13038. 1 hit.
PfamiPF04109. APG9. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiATG9B_HUMAN
AccessioniPrimary (citable) accession number: Q674R7
Secondary accession number(s): A1A5D3, Q6JRW5, Q8N8I8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 11, 2004
Last modified: November 2, 2016
This is version 95 of the entry and version 1 of the sequence. [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

Miscellaneous

ATG9B gene is located on the opposite DNA strand of the NOS3 gene at chromosome 7q36. The genes are oriented in a tail-to-tail configuration and the mRNAs encoding ATG9B and NOS3 are complementary for 662 nucleotides. ATG9B transcription may a role in NOS3 transcription regulation.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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.