AVL9_HUMAN
ID AVL9_HUMAN Reviewed; 648 AA.
AC Q8NBF6; Q92573;
DT 25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Late secretory pathway protein AVL9 homolog;
GN Name=AVL9; Synonyms=KIAA0241;
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 [LARGE SCALE MRNA] (ISOFORM 1).
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 70-648 (ISOFORM 2).
RC TISSUE=Bone marrow;
RX PubMed=9039502; DOI=10.1093/dnares/3.5.321;
RA Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O.,
RA Tanaka A., Kotani H., Miyajima N., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. VI. The
RT coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of
RT cDNA clones from cell line KG-1 and brain.";
RL DNA Res. 3:321-329(1996).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [6]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=22595670; DOI=10.1016/j.devcel.2012.04.010;
RA Linford A., Yoshimura S., Nunes Bastos R., Langemeyer L., Gerondopoulos A.,
RA Rigden D.J., Barr F.A.;
RT "Rab14 and its exchange factor FAM116 link endocytic recycling and adherens
RT junction stability in migrating cells.";
RL Dev. Cell 22:952-966(2012).
RN [7]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-588, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Colon carcinoma;
RX PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
CC -!- FUNCTION: Functions in cell migration. {ECO:0000269|PubMed:22595670}.
CC -!- SUBCELLULAR LOCATION: Recycling endosome {ECO:0000269|PubMed:22595670}.
CC Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NBF6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NBF6-2; Sequence=VSP_019943;
CC -!- SIMILARITY: Belongs to the AVL9 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK090619; BAC03489.1; -; mRNA.
DR EMBL; AACC02000087; EAL24439.1; -; Genomic_DNA.
DR EMBL; D87682; BAA13435.1; -; mRNA.
DR CCDS; CCDS34613.1; -. [Q8NBF6-1]
DR RefSeq; NP_055875.1; NM_015060.2. [Q8NBF6-1]
DR AlphaFoldDB; Q8NBF6; -.
DR BioGRID; 116711; 19.
DR IntAct; Q8NBF6; 10.
DR STRING; 9606.ENSP00000315568; -.
DR GlyGen; Q8NBF6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NBF6; -.
DR MetOSite; Q8NBF6; -.
DR PhosphoSitePlus; Q8NBF6; -.
DR BioMuta; AVL9; -.
DR DMDM; 74730135; -.
DR EPD; Q8NBF6; -.
DR jPOST; Q8NBF6; -.
DR MassIVE; Q8NBF6; -.
DR MaxQB; Q8NBF6; -.
DR PaxDb; Q8NBF6; -.
DR PeptideAtlas; Q8NBF6; -.
DR PRIDE; Q8NBF6; -.
DR ProteomicsDB; 72764; -. [Q8NBF6-1]
DR ProteomicsDB; 72765; -. [Q8NBF6-2]
DR Antibodypedia; 53032; 83 antibodies from 15 providers.
DR DNASU; 23080; -.
DR Ensembl; ENST00000318709.9; ENSP00000315568.4; ENSG00000105778.20. [Q8NBF6-1]
DR GeneID; 23080; -.
DR KEGG; hsa:23080; -.
DR MANE-Select; ENST00000318709.9; ENSP00000315568.4; NM_015060.3; NP_055875.1.
DR UCSC; uc003tcv.2; human. [Q8NBF6-1]
DR CTD; 23080; -.
DR DisGeNET; 23080; -.
DR GeneCards; AVL9; -.
DR HGNC; HGNC:28994; AVL9.
DR HPA; ENSG00000105778; Low tissue specificity.
DR MIM; 612927; gene.
DR neXtProt; NX_Q8NBF6; -.
DR OpenTargets; ENSG00000105778; -.
DR PharmGKB; PA164716408; -.
DR VEuPathDB; HostDB:ENSG00000105778; -.
DR eggNOG; KOG3823; Eukaryota.
DR GeneTree; ENSGT00390000010255; -.
DR HOGENOM; CLU_009066_2_1_1; -.
DR InParanoid; Q8NBF6; -.
DR OMA; NDHFNAH; -.
DR OrthoDB; 1184841at2759; -.
DR PhylomeDB; Q8NBF6; -.
DR TreeFam; TF105998; -.
DR PathwayCommons; Q8NBF6; -.
DR SignaLink; Q8NBF6; -.
DR BioGRID-ORCS; 23080; 11 hits in 1070 CRISPR screens.
DR ChiTaRS; AVL9; human.
DR GenomeRNAi; 23080; -.
DR Pharos; Q8NBF6; Tbio.
DR PRO; PR:Q8NBF6; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8NBF6; protein.
DR Bgee; ENSG00000105778; Expressed in choroid plexus epithelium and 198 other tissues.
DR ExpressionAtlas; Q8NBF6; baseline and differential.
DR Genevisible; Q8NBF6; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0055037; C:recycling endosome; IDA:UniProtKB.
DR GO; GO:0016477; P:cell migration; IDA:UniProtKB.
DR InterPro; IPR018307; ABL9/DENND6_dom.
DR InterPro; IPR037516; Tripartite_DENN.
DR Pfam; PF09794; Avl9; 1.
DR PROSITE; PS50211; DENN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Endosome; Membrane; Methylation; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..648
FT /note="Late secretory pathway protein AVL9 homolog"
FT /id="PRO_0000247178"
FT TRANSMEM 214..230
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 17..161
FT /note="uDENN"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00304"
FT DOMAIN 173..340
FT /note="cDENN"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00304"
FT DOMAIN 342..593
FT /note="dDENN"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00304"
FT REGION 299..336
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 349..372
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 303..333
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 244
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80U56"
FT MOD_RES 588
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT VAR_SEQ 524..589
FT /note="DNEKILSDYGTTFVTAWKNTHNYRVWNSNKHPALAEINPNHPFQGQYSVSDM
FT KLRFSHSVQNSERG -> VLFRIVNVA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9039502"
FT /id="VSP_019943"
FT VARIANT 257
FT /note="C -> S (in dbSNP:rs2290213)"
FT /id="VAR_027083"
SQ SEQUENCE 648 AA; 71947 MW; 3F59F3CA68596009 CRC64;
MEKARRGGDG VPRGPVLHIV VVGFHHKKGC QVEFSYPPLI PGDGHDSHTL PEEWKYLPFL
ALPDGAHNYQ EDTVFFHLPP RNGNGATVFG ISCYRQIEAK ALKVRQADIT RETVQKSVCV
LSKLPLYGLL QAKLQLITHA YFEEKDFSQI SILKELYEHM NSSLGGASLE GSQVYLGLSP
RDLVLHFRHK VLILFKLILL EKKVLFYISP VNKLVGALMT VLSLFPGMIE HGLSDCSQYR
PRKSMSEDGG LQESNPCADD FVSASTADVS HTNLGTIRKV MAGNHGEDAA MKTEEPLFQV
EDSSKGQEPN DTNQYLKPPS RPSPDSSESD WETLDPSVLE DPNLKEREQL GSDQTNLFPK
DSVPSESLPI TVQPQANTGQ VVLIPGLISG LEEDQYGMPL AIFTKGYLCL PYMALQQHHL
LSDVTVRGFV AGATNILFRQ QKHLSDAIVE VEEALIQIHD PELRKLLNPT TADLRFADYL
VRHVTENRDD VFLDGTGWEG GDEWIRAQFA VYIHALLAAT LQLDNEKILS DYGTTFVTAW
KNTHNYRVWN SNKHPALAEI NPNHPFQGQY SVSDMKLRFS HSVQNSERGK KIGNVMVTTS
RNVVQTGKAV GQSVGGAFSS AKTAMSSWLS TFTTSTSQSL TEPPDEKP
