Reviewed, UniProtKB/Swiss-Prot Q7Z3C6 (ATG9A_HUMAN)

Names and origin

Protein names

Recommended name:
    Autophagy-related protein 9A
Alternative name(s):
    APG9-like 1

Gene names

Name:	ATG9A
Synonyms:	APG9L1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	839 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Plays a role in autophagy By similarity.
Subcellular location	Cytoplasmic vesicle › autophagosome membrane; Multi-pass membrane proteinBy similarity.
Sequence similarities	Belongs to the ATG9 family.

Ontologies

Keywords
Biological process	Autophagy Protein transport Transport
Cellular component	Cytoplasmic vesicle Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	autophagosome formation Inferred from mutant phenotype. Source: MGI protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasmic vesicle Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q7Z3C6-1)

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.

Isoform 2 (identifier: Q7Z3C6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.

Isoform 3 (identifier: Q7Z3C6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     455-528: NAHRSQTRDE...CSFAQMDVRQ → VHFGRVAEPH...ADRGLSVPAS
     529-839: Missing.

Notes: Probable target of nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 839	839	Autophagy-related protein 9A		PRO_0000119820
Regions
	Topological domain	1 – 66	66	Cytoplasmic By similarity
	Transmembrane	67 – 87	21	Potential
	Topological domain	88 – 131	44	Lumenal By similarity
	Transmembrane	132 – 152	21	Potential
	Topological domain	153 – 289	137	Cytoplasmic By similarity
	Transmembrane	290 – 310	21	Potential
	Topological domain	311 – 371	61	Lumenal By similarity
	Transmembrane	372 – 392	21	Potential
	Topological domain	393 – 400	8	Cytoplasmic By similarity
	Transmembrane	401 – 421	21	Potential
	Topological domain	422 – 473	52	Lumenal By similarity
	Transmembrane	474 – 494	21	Potential
	Topological domain	495 – 839	345	Cytoplasmic By similarity
Amino acid modifications
	Modified residue	14	1	Phosphoserine
	Modified residue	18	1	Phosphoserine
	Modified residue	656	1	Phosphoserine
	Modified residue	735	1	Phosphoserine
	Modified residue	738	1	Phosphoserine
	Modified residue	741	1	Phosphoserine
	Modified residue	828	1	Phosphoserine
Natural variations
	Alternative sequence	1 – 61	61	Missing in isoform 2.		VSP_013396
	Alternative sequence	455 – 528	74	NAHRS…MDVRQ → VHFGRVAEPHCHTPHPHLLP APTGPGDYRLLPKLHRGGRW CGRYLLLCSDGCSPAWSSPV AICWADRGLSVPAS in isoform 3.		VSP_013397
	Alternative sequence	529 – 839	311	Missing in isoform 3.		VSP_013398
	Natural variant	592	1	S → G: dbSNP rs2276635.		VAR_021835
Experimental info
	Sequence conflict	39	1	R → H in CAD98061. Ref.1
	Sequence conflict	39	1	R → H in AAH65534. Ref.2
	Sequence conflict	300	1	L → P in CAD97944. Ref.1
	Sequence conflict	381	1	A → T in AAH65534. Ref.2
	Sequence conflict	519	1	C → R in CAD98061. Ref.1
	Sequence conflict	567	1	W → R in CAD98061. Ref.1
	Sequence conflict	669	1	H → N in BAB15246. Ref.3
	Sequence conflict	765	1	A → V in CAD97944. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 12, 2005. Version 2. Checksum: AD60A34B1765DED8	FASTA	839	94,466
	10 20 30 40 50 60 MAQFDTEYQR LEASYSDSPP GEEDLLVHVA EGSKSPWHRI ENLDLFFSRV YNLHQKNGFT 70 80 90 100 110 120 CMLIGEIFEL MQFLFVVAFT TFLVSCVDYD ILFANKMVNH SLHPTEPVKV TLPDAFLPAQ 130 140 150 160 170 180 VCSARIQENG SLITILVIAG VFWIHRLIKF IYNICCYWEI HSFYLHALRI PMSALPYCTW 190 200 210 220 230 240 QEVQARIVQT QKEHQICIHK RELTELDIYH RILRFQNYMV ALVNKSLLPL RFRLPGLGEA 250 260 270 280 290 300 VFFTRGLKYN FELILFWGPG SLFLNEWSLK AEYKRGGQRL ELAQRLSNRI LWIGIANFLL 310 320 330 340 350 360 CPLILIWQIL YAFFSYAEVL KREPGALGAR CWSLYGRCYL RHFNELEHEL QSRLNRGYKP 370 380 390 400 410 420 ASKYMNCFLS PLLTLLAKNG AFFAGSILAV LIALTIYDED VLAVEHVLTT VTLLGVTVTV 430 440 450 460 470 480 CRSFIPDQHM VFCPEQLLRV ILAHIHYMPD HWQGNAHRSQ TRDEFAQLFQ YKAVFILEEL 490 500 510 520 530 540 LSPIVTPLIL IFCLRPRALE IIDFFRNFTV EVVGVGDTCS FAQMDVRQHG HPQWLSAGQT 550 560 570 580 590 600 EASVYQQAED GKTELSLMHF AITNPGWQPP RESTAFLGFL KEQVQRDGAA ASLAQGGLLP 610 620 630 640 650 660 ENALFTSIQS LQSESEPLSL IANVVAGSSC RGPPLPRDLQ GSRHRAEVAS ALRSFSPLQP 670 680 690 700 710 720 GQAPTGRAHS TMTGSGVDAR TASSGSSVWE GQLQSLVLSE YASTEMSLHA LYMHQLHKQQ 730 740 750 760 770 780 AQAEPERHVW HRRESDESGE SAPDEGGEGA RAPQSIPRSA SYPCAAPRPG APETTALHGG 790 800 810 820 830 FQRRYGGITD PGTVPRVPSH FSRLPLGGWA EDGQSASRHP EPVPEEGSED ELPPQVHKV
	Isoform 2 [UniParc]. Checksum: DBF1B239460D7250		778	87,379
	10 20 30 40 50 60 MLIGEIFELM QFLFVVAFTT FLVSCVDYDI LFANKMVNHS LHPTEPVKVT LPDAFLPAQV 70 80 90 100 110 120 CSARIQENGS LITILVIAGV FWIHRLIKFI YNICCYWEIH SFYLHALRIP MSALPYCTWQ 130 140 150 160 170 180 EVQARIVQTQ KEHQICIHKR ELTELDIYHR ILRFQNYMVA LVNKSLLPLR FRLPGLGEAV 190 200 210 220 230 240 FFTRGLKYNF ELILFWGPGS LFLNEWSLKA EYKRGGQRLE LAQRLSNRIL WIGIANFLLC 250 260 270 280 290 300 PLILIWQILY AFFSYAEVLK REPGALGARC WSLYGRCYLR HFNELEHELQ SRLNRGYKPA 310 320 330 340 350 360 SKYMNCFLSP LLTLLAKNGA FFAGSILAVL IALTIYDEDV LAVEHVLTTV TLLGVTVTVC 370 380 390 400 410 420 RSFIPDQHMV FCPEQLLRVI LAHIHYMPDH WQGNAHRSQT RDEFAQLFQY KAVFILEELL 430 440 450 460 470 480 SPIVTPLILI FCLRPRALEI IDFFRNFTVE VVGVGDTCSF AQMDVRQHGH PQWLSAGQTE 490 500 510 520 530 540 ASVYQQAEDG KTELSLMHFA ITNPGWQPPR ESTAFLGFLK EQVQRDGAAA SLAQGGLLPE 550 560 570 580 590 600 NALFTSIQSL QSESEPLSLI ANVVAGSSCR GPPLPRDLQG SRHRAEVASA LRSFSPLQPG 610 620 630 640 650 660 QAPTGRAHST MTGSGVDART ASSGSSVWEG QLQSLVLSEY ASTEMSLHAL YMHQLHKQQA 670 680 690 700 710 720 QAEPERHVWH RRESDESGES APDEGGEGAR APQSIPRSAS YPCAAPRPGA PETTALHGGF 730 740 750 760 770 QRRYGGITDP GTVPRVPSHF SRLPLGGWAE DGQSASRHPE PVPEEGSEDE LPPQVHKV
	Isoform 3 [UniParc]. Checksum: 3C826EB6D703BA22		528	60,713
	10 20 30 40 50 60 MAQFDTEYQR LEASYSDSPP GEEDLLVHVA EGSKSPWHRI ENLDLFFSRV YNLHQKNGFT 70 80 90 100 110 120 CMLIGEIFEL MQFLFVVAFT TFLVSCVDYD ILFANKMVNH SLHPTEPVKV TLPDAFLPAQ 130 140 150 160 170 180 VCSARIQENG SLITILVIAG VFWIHRLIKF IYNICCYWEI HSFYLHALRI PMSALPYCTW 190 200 210 220 230 240 QEVQARIVQT QKEHQICIHK RELTELDIYH RILRFQNYMV ALVNKSLLPL RFRLPGLGEA 250 260 270 280 290 300 VFFTRGLKYN FELILFWGPG SLFLNEWSLK AEYKRGGQRL ELAQRLSNRI LWIGIANFLL 310 320 330 340 350 360 CPLILIWQIL YAFFSYAEVL KREPGALGAR CWSLYGRCYL RHFNELEHEL QSRLNRGYKP 370 380 390 400 410 420 ASKYMNCFLS PLLTLLAKNG AFFAGSILAV LIALTIYDED VLAVEHVLTT VTLLGVTVTV 430 440 450 460 470 480 CRSFIPDQHM VFCPEQLLRV ILAHIHYMPD HWQGVHFGRV AEPHCHTPHP HLLPAPTGPG 490 500 510 520 DYRLLPKLHR GGRWCGRYLL LCSDGCSPAW SSPVAICWAD RGLSVPAS

References

[1]	The German cDNA consortium Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT GLY-592. Tissue: Fetal brain, Lung endothelial cell, Rectum tumor and Testis.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain and Lymph.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 156-839, VARIANT GLY-592. Tissue: Embryo.
[4]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-828, MASS SPECTROMETRY. Tissue: Epithelium.
[5]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-656, MASS SPECTROMETRY.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14; SER-18; SER-656; SER-735; SER-738; SER-741 AND SER-828, MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AL833865 mRNA. Translation: CAD38723.1. BX537984 mRNA. Translation: CAD97944.1. BX538192 mRNA. Translation: CAD98061.1. BX538198 mRNA. Translation: CAD98064.1. BC001098 mRNA. Translation: AAH01098.2. BC021202 mRNA. Translation: AAH21202.2. BC065534 mRNA. Translation: AAH65534.1. AK021732 mRNA. Translation: BAB13882.1. Different initiation. AK027448 mRNA. Translation: BAB55119.1. Different initiation. AK025822 mRNA. Translation: BAB15246.1. Different initiation.
RefSeq	NP_076990.4.
UniGene	Hs.323363
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z3C6.
PTM databases
PhosphoSite	Q7Z3C6.
Genome annotation databases
Ensembl	ENSG00000198925. Homo sapiens. [Contig view]
GeneID	79065.
Organism-specific databases
HGNC	HGNC:22408. ATG9A.
PharmGKB	PA134931318.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q7Z3C6.
Gene expression databases
ArrayExpress	Q7Z3C6.
CleanEx	HS_ATG9A.
GermOnline	ENSG00000198925. Homo sapiens.
Family and domain databases
InterPro	IPR007241. Autophagy_prot_9. [Graphical view]
PANTHER	PTHR13038. APG9. 1 hit.
Pfam	PF04109. APG9. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
LinkHub	Q7Z3C6.
NextBio	67835.

Entry information

Entry name

ATG9A_HUMAN

Accession

Primary (citable) accession number: Q7Z3C6
Secondary accession number(s): Q6P0N7 , Q7Z317, Q7Z320, Q8NDK6, Q8WU65, Q9BVL5, Q9H6L1, Q9HAG7

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 12, 2005
Last sequence update:	April 12, 2005
Last modified:	November 25, 2008
This is version 50 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)