RABEK_HUMAN
ID RABEK_HUMAN Reviewed; 372 AA.
AC Q7Z6M1; A8K403; O00568; Q69YR2; Q6FHA4; Q6IBG7; Q6P092; Q86Y76; Q9BWB1;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Rab9 effector protein with kelch motifs {ECO:0000305};
DE AltName: Full=40 kDa Rab9 effector protein;
DE AltName: Full=p40;
GN Name=RABEPK {ECO:0000312|HGNC:HGNC:16896}; Synonyms=RAB9P40;
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), FUNCTION, SUBCELLULAR LOCATION, AND
RP INTERACTION WITH RAB9.
RX PubMed=9230071; DOI=10.1083/jcb.138.2.283;
RA Diaz E., Schimmoller F., Pfeffer S.R.;
RT "A novel Rab9 effector required for endosome-to-TGN transport.";
RL J. Cell Biol. 138:283-290(1997).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT TYR-73.
RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P.,
RA Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y.,
RA LaBaer J.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP GLY-60; TYR-73 AND GLY-313.
RC TISSUE=Bone marrow, Lung, and Mammary gland;
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-121.
RC TISSUE=Endometrial tumor;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [8]
RP INTERACTION WITH PIKFYVE, SUBCELLULAR LOCATION, AND PHOSPHORYLATION.
RX PubMed=14530284; DOI=10.1074/jbc.m307260200;
RA Ikonomov O.C., Sbrissa D., Mlak K., Deeb R., Fligger J., Soans A.,
RA Finley R.L. Jr., Shisheva A.;
RT "Active PIKfyve associates with and promotes the membrane attachment of the
RT late endosome-to-trans-Golgi network transport factor Rab9 effector p40.";
RL J. Biol. Chem. 278:50863-50871(2003).
RN [9]
RP INTERACTION WITH RAB9, AND SUBCELLULAR LOCATION.
RX PubMed=16769818; DOI=10.1083/jcb.200510010;
RA Aivazian D., Serrano R.L., Pfeffer S.;
RT "TIP47 is a key effector for Rab9 localization.";
RL J. Cell Biol. 173:917-926(2006).
RN [10]
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 [11]
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 [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-133, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and 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).
CC -!- FUNCTION: Rab9 effector required for endosome to trans-Golgi network
CC (TGN) transport. {ECO:0000269|PubMed:9230071}.
CC -!- SUBUNIT: Interacts with PIKFYVE; the interaction recruits RABEPK to the
CC endosomal membrane (PubMed:14530284). Interacts with RAB9 in its GTP-
CC bound conformation (PubMed:16769818, PubMed:9230071).
CC {ECO:0000269|PubMed:14530284, ECO:0000269|PubMed:16769818,
CC ECO:0000269|PubMed:9230071}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane
CC {ECO:0000269|PubMed:14530284}. Note=Interaction with PIKFYVE and
CC subsequent phosphorylation recruits it to the endosomal membrane.
CC {ECO:0000269|PubMed:14530284}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q7Z6M1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z6M1-2; Sequence=VSP_023828;
CC -!- PTM: Phosphorylated on Ser residues by PIKFYVE.
CC {ECO:0000269|PubMed:14530284}.
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DR EMBL; Z97074; CAB09808.1; -; mRNA.
DR EMBL; AK290768; BAF83457.1; -; mRNA.
DR EMBL; CR456837; CAG33118.1; -; mRNA.
DR EMBL; CR541851; CAG46649.1; -; mRNA.
DR EMBL; AL354710; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL445930; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW87616.1; -; Genomic_DNA.
DR EMBL; BC000503; AAH00503.1; -; mRNA.
DR EMBL; BC047023; AAH47023.1; -; mRNA.
DR EMBL; BC053541; AAH53541.1; -; mRNA.
DR EMBL; BC065725; AAH65725.1; -; mRNA.
DR EMBL; AL832249; CAH10393.1; -; mRNA.
DR CCDS; CCDS55341.1; -. [Q7Z6M1-2]
DR CCDS; CCDS6862.1; -. [Q7Z6M1-1]
DR RefSeq; NP_001167623.1; NM_001174152.1. [Q7Z6M1-1]
DR RefSeq; NP_001167624.1; NM_001174153.1. [Q7Z6M1-2]
DR RefSeq; NP_005824.2; NM_005833.3. [Q7Z6M1-1]
DR RefSeq; XP_016869666.1; XM_017014177.1. [Q7Z6M1-1]
DR AlphaFoldDB; Q7Z6M1; -.
DR SMR; Q7Z6M1; -.
DR BioGRID; 115538; 48.
DR IntAct; Q7Z6M1; 12.
DR MINT; Q7Z6M1; -.
DR STRING; 9606.ENSP00000362639; -.
DR iPTMnet; Q7Z6M1; -.
DR PhosphoSitePlus; Q7Z6M1; -.
DR BioMuta; RABEPK; -.
DR DMDM; 74750172; -.
DR EPD; Q7Z6M1; -.
DR jPOST; Q7Z6M1; -.
DR MassIVE; Q7Z6M1; -.
DR MaxQB; Q7Z6M1; -.
DR PaxDb; Q7Z6M1; -.
DR PeptideAtlas; Q7Z6M1; -.
DR PRIDE; Q7Z6M1; -.
DR ProteomicsDB; 69444; -. [Q7Z6M1-1]
DR ProteomicsDB; 69445; -. [Q7Z6M1-2]
DR Antibodypedia; 16386; 229 antibodies from 27 providers.
DR DNASU; 10244; -.
DR Ensembl; ENST00000259460.12; ENSP00000259460.8; ENSG00000136933.17. [Q7Z6M1-2]
DR Ensembl; ENST00000373538.8; ENSP00000362639.3; ENSG00000136933.17. [Q7Z6M1-1]
DR Ensembl; ENST00000394125.8; ENSP00000377683.4; ENSG00000136933.17. [Q7Z6M1-1]
DR GeneID; 10244; -.
DR KEGG; hsa:10244; -.
DR MANE-Select; ENST00000373538.8; ENSP00000362639.3; NM_005833.4; NP_005824.2.
DR UCSC; uc004bpi.4; human. [Q7Z6M1-1]
DR CTD; 10244; -.
DR DisGeNET; 10244; -.
DR GeneCards; RABEPK; -.
DR HGNC; HGNC:16896; RABEPK.
DR HPA; ENSG00000136933; Low tissue specificity.
DR MIM; 605962; gene.
DR neXtProt; NX_Q7Z6M1; -.
DR OpenTargets; ENSG00000136933; -.
DR PharmGKB; PA142671100; -.
DR VEuPathDB; HostDB:ENSG00000136933; -.
DR eggNOG; KOG0379; Eukaryota.
DR GeneTree; ENSGT00940000158763; -.
DR HOGENOM; CLU_045313_0_0_1; -.
DR InParanoid; Q7Z6M1; -.
DR OMA; HEWDIPE; -.
DR OrthoDB; 933937at2759; -.
DR PhylomeDB; Q7Z6M1; -.
DR TreeFam; TF329153; -.
DR PathwayCommons; Q7Z6M1; -.
DR Reactome; R-HSA-6811440; Retrograde transport at the Trans-Golgi-Network.
DR SignaLink; Q7Z6M1; -.
DR SIGNOR; Q7Z6M1; -.
DR BioGRID-ORCS; 10244; 13 hits in 1082 CRISPR screens.
DR ChiTaRS; RABEPK; human.
DR GeneWiki; RABEPK; -.
DR GenomeRNAi; 10244; -.
DR Pharos; Q7Z6M1; Tdark.
DR PRO; PR:Q7Z6M1; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q7Z6M1; protein.
DR Bgee; ENSG00000136933; Expressed in right lobe of liver and 201 other tissues.
DR ExpressionAtlas; Q7Z6M1; baseline and differential.
DR Genevisible; Q7Z6M1; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005768; C:endosome; TAS:ProtInc.
DR GO; GO:0010008; C:endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0032588; C:trans-Golgi network membrane; TAS:Reactome.
DR GO; GO:0030133; C:transport vesicle; TAS:Reactome.
DR GO; GO:0006898; P:receptor-mediated endocytosis; TAS:ProtInc.
DR GO; GO:0006904; P:vesicle docking involved in exocytosis; TAS:ProtInc.
DR Gene3D; 2.120.10.80; -; 2.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR InterPro; IPR011498; Kelch_2.
DR Pfam; PF01344; Kelch_1; 1.
DR Pfam; PF07646; Kelch_2; 1.
DR SUPFAM; SSF117281; SSF117281; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Endosome; Kelch repeat; Membrane;
KW Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..372
FT /note="Rab9 effector protein with kelch motifs"
FT /id="PRO_0000280616"
FT REPEAT 49..95
FT /note="Kelch 1"
FT REPEAT 100..146
FT /note="Kelch 2"
FT REPEAT 151..200
FT /note="Kelch 3"
FT REPEAT 204..250
FT /note="Kelch 4"
FT REPEAT 254..303
FT /note="Kelch 5"
FT REGION 314..340
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 315..338
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 133
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 71..121
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023828"
FT VARIANT 58
FT /note="P -> A (in dbSNP:rs13302059)"
FT /id="VAR_050058"
FT VARIANT 60
FT /note="R -> G (in dbSNP:rs17855990)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031175"
FT VARIANT 67
FT /note="T -> P (in dbSNP:rs13302050)"
FT /id="VAR_031176"
FT VARIANT 73
FT /note="H -> Y (in dbSNP:rs1128362)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_031177"
FT VARIANT 95
FT /note="S -> C (in dbSNP:rs34991596)"
FT /id="VAR_050059"
FT VARIANT 313
FT /note="D -> G (in dbSNP:rs17849326)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031178"
FT VARIANT 333
FT /note="M -> I (in dbSNP:rs15233)"
FT /id="VAR_031179"
FT CONFLICT 8
FT /note="E -> K (in Ref. 3; CAG46649)"
FT /evidence="ECO:0000305"
FT CONFLICT 329
FT /note="A -> V (in Ref. 1; CAB09808)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 372 AA; 40565 MW; FBB17B9C6260C62E CRC64;
MKQLPVLEPG DKPRKATWYT LTVPGDSPCA RVGHSCSYLP PVGNAKRGKV FIVGGANPNR
SFSDVHTMDL GKHQWDLDTC KGLLPRYEHA SFIPSCTPDR IWVFGGANQS GNRNCLQVLN
PETRTWTTPE VTSPPPSPRT FHTSSAAIGN QLYVFGGGER GAQPVQDTKL HVFDANTLTW
SQPETLGNPP SPRHGHVMVA AGTKLFIHGG LAGDRFYDDL HCIDISDMKW QKLNPTGAAP
AGCAAHSAVA MGKHVYIFGG MTPAGALDTM YQYHTEEQHW TLLKFDTLLP PGRLDHSMCI
IPWPVTCASE KEDSNSLTLN HEAEKEDSAD KVMSHSGDSH EESQTATLLC LVFGGMNTEG
EIYDDCIVTV VD
