PHAF1_HUMAN
ID PHAF1_HUMAN Reviewed; 422 AA.
AC Q9BSU1; Q9HA86;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Phagosome assembly factor 1 {ECO:0000305};
GN Name=PHAF1 {ECO:0000312|HGNC:HGNC:29564}; Synonyms=C16orf6, C16orf70;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Lee Y.M., Kim W.;
RT "Identification of human homolog of rat lin-10.";
RL Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Embryo;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP FUNCTION, INTERACTION WITH BCAS3, AND SUBCELLULAR LOCATION.
RX PubMed=33499712; DOI=10.1080/15548627.2021.1874133;
RA Kojima W., Yamano K., Kosako H., Imai K., Kikuchi R., Tanaka K.,
RA Matsuda N.;
RT "Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site
RT in response to selective and non-selective autophagy.";
RL Autophagy 1:1-26(2021).
CC -!- FUNCTION: Plays a regulatory role in autophagic activity. In complex
CC with BCAS3, associates with the autophagosome formation site during
CC both non-selective and selective autophagy.
CC {ECO:0000269|PubMed:33499712}.
CC -!- SUBUNIT: Interacts with BCAS3; the interaction is requrired for the
CC association with the phagophore. {ECO:0000269|PubMed:33499712}.
CC -!- INTERACTION:
CC Q9BSU1; P54252: ATXN3; NbExp=4; IntAct=EBI-946080, EBI-946046;
CC Q9BSU1; Q9H6U6-2: BCAS3; NbExp=3; IntAct=EBI-946080, EBI-10307911;
CC Q9BSU1; O43439-4: CBFA2T2; NbExp=3; IntAct=EBI-946080, EBI-11954144;
CC Q9BSU1; Q68D86: CCDC102B; NbExp=5; IntAct=EBI-946080, EBI-10171570;
CC Q9BSU1; O15442-2: MPPED1; NbExp=3; IntAct=EBI-946080, EBI-12183511;
CC Q9BSU1; P48146: NPBWR2; NbExp=3; IntAct=EBI-946080, EBI-10210114;
CC Q9BSU1; Q6MZQ0: PRR5L; NbExp=3; IntAct=EBI-946080, EBI-1567866;
CC Q9BSU1; Q9H0E2: TOLLIP; NbExp=5; IntAct=EBI-946080, EBI-74615;
CC Q9BSU1; Q9NRE2: TSHZ2; NbExp=3; IntAct=EBI-946080, EBI-10687282;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:33499712}.
CC Preautophagosomal structure {ECO:0000269|PubMed:33499712}. Note=The
CC BCAS3:PHAF1 complex is recruited to the preautophagosomal structures
CC adjacent to the damaged mitochondria upon mitophagy in a PRKN-PINK1
CC dependent manner. {ECO:0000269|PubMed:33499712}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BSU1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BSU1-2; Sequence=VSP_026623, VSP_026624, VSP_026625;
CC -!- SIMILARITY: Belongs to the PHAF1 family. {ECO:0000305}.
CC -!- CAUTION: Was originally (Ref.1) thought to be a lin-10 homolog.
CC {ECO:0000305}.
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DR EMBL; AF176088; AAK96888.1; -; mRNA.
DR EMBL; AK022138; BAB13968.1; -; mRNA.
DR EMBL; BC004556; AAH04556.1; -; mRNA.
DR CCDS; CCDS10828.1; -. [Q9BSU1-1]
DR RefSeq; NP_001307469.1; NM_001320540.1. [Q9BSU1-1]
DR RefSeq; NP_001307470.1; NM_001320541.1. [Q9BSU1-1]
DR RefSeq; NP_001307471.1; NM_001320542.1. [Q9BSU1-1]
DR RefSeq; NP_001307472.1; NM_001320543.1.
DR RefSeq; NP_079463.2; NM_025187.4. [Q9BSU1-1]
DR AlphaFoldDB; Q9BSU1; -.
DR BioGRID; 123204; 45.
DR IntAct; Q9BSU1; 34.
DR STRING; 9606.ENSP00000219139; -.
DR iPTMnet; Q9BSU1; -.
DR PhosphoSitePlus; Q9BSU1; -.
DR BioMuta; C16orf70; -.
DR EPD; Q9BSU1; -.
DR jPOST; Q9BSU1; -.
DR MassIVE; Q9BSU1; -.
DR MaxQB; Q9BSU1; -.
DR PaxDb; Q9BSU1; -.
DR PeptideAtlas; Q9BSU1; -.
DR PRIDE; Q9BSU1; -.
DR ProteomicsDB; 78926; -. [Q9BSU1-1]
DR ProteomicsDB; 78927; -. [Q9BSU1-2]
DR Antibodypedia; 29405; 46 antibodies from 19 providers.
DR DNASU; 80262; -.
DR Ensembl; ENST00000219139.8; ENSP00000219139.3; ENSG00000125149.12. [Q9BSU1-1]
DR Ensembl; ENST00000569600.5; ENSP00000455182.1; ENSG00000125149.12. [Q9BSU1-1]
DR GeneID; 80262; -.
DR KEGG; hsa:80262; -.
DR MANE-Select; ENST00000219139.8; ENSP00000219139.3; NM_025187.5; NP_079463.2.
DR UCSC; uc002erc.4; human. [Q9BSU1-1]
DR CTD; 80262; -.
DR DisGeNET; 80262; -.
DR GeneCards; PHAF1; -.
DR HGNC; HGNC:29564; PHAF1.
DR HPA; ENSG00000125149; Tissue enhanced (liver).
DR neXtProt; NX_Q9BSU1; -.
DR OpenTargets; ENSG00000125149; -.
DR VEuPathDB; HostDB:ENSG00000125149; -.
DR eggNOG; KOG2819; Eukaryota.
DR GeneTree; ENSGT00940000153528; -.
DR InParanoid; Q9BSU1; -.
DR OMA; GCEQWEF; -.
DR OrthoDB; 709631at2759; -.
DR PhylomeDB; Q9BSU1; -.
DR TreeFam; TF313669; -.
DR PathwayCommons; Q9BSU1; -.
DR SignaLink; Q9BSU1; -.
DR BioGRID-ORCS; 80262; 12 hits in 1052 CRISPR screens.
DR ChiTaRS; C16orf70; human.
DR GenomeRNAi; 80262; -.
DR Pharos; Q9BSU1; Tdark.
DR PRO; PR:Q9BSU1; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9BSU1; protein.
DR Bgee; ENSG00000125149; Expressed in right lobe of liver and 172 other tissues.
DR ExpressionAtlas; Q9BSU1; baseline and differential.
DR Genevisible; Q9BSU1; HS.
DR GO; GO:0030425; C:dendrite; IBA:GO_Central.
DR GO; GO:0000407; C:phagophore assembly site; IDA:UniProtKB.
DR GO; GO:0030672; C:synaptic vesicle membrane; IBA:GO_Central.
DR GO; GO:0005802; C:trans-Golgi network; IBA:GO_Central.
DR GO; GO:0043001; P:Golgi to plasma membrane protein transport; IBA:GO_Central.
DR InterPro; IPR005373; PHAF1.
DR InterPro; IPR039156; PHAF1/BROMI.
DR PANTHER; PTHR13465; PTHR13465; 1.
DR PANTHER; PTHR13465:SF2; PTHR13465:SF2; 1.
DR Pfam; PF03676; UPF0183; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Reference proteome.
FT CHAIN 1..422
FT /note="Phagosome assembly factor 1"
FT /id="PRO_0000221083"
FT VAR_SEQ 1..22
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026623"
FT VAR_SEQ 118
FT /note="G -> GGKPSPSDSSGHQWQFIAINLPGSAIPPHFLESGSHRIVGLVLGCEG
FT NILPLVFNLVGQFRNKPQGRCCQSLLPARLVYVSHFRCQSTMLFSSPPPPT (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026624"
FT VAR_SEQ 184..422
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026625"
SQ SEQUENCE 422 AA; 47524 MW; CEA42442E45A7E35 CRC64;
MLDLEVVPER SLGNEQWEFT LGMPLAQAVA ILQKHCRIIK NVQVLYSEQS PLSHDLILNL
TQDGIKLMFD AFNQRLKVIE VCDLTKVKLK YCGVHFNSQA IAPTIEQIDQ SFGATHPGVY
NSAEQLFHLN FRGLSFSFQL DSWTEAPKYE PNFAHGLASL QIPHGATVKR MYIYSGNSLQ
DTKAPMMPLS CFLGNVYAES VDVLRDGTGP AGLRLRLLAA GCGPGLLADA KMRVFERSVY
FGDSCQDVLS MLGSPHKVFY KSEDKMKIHS PSPHKQVPSK CNDYFFNYFT LGVDILFDAN
THKVKKFVLH TNYPGHYNFN IYHRCEFKIP LAIKKENADG QTETCTTYSK WDNIQELLGH
PVEKPVVLHR SSSPNNTNPF GSTFCFGLQR MIFEVMQNNH IASVTLYGPP RPGSHLRTAE
LP
