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Q7Z6M1

- RABEK_HUMAN

UniProt

Q7Z6M1 - RABEK_HUMAN

Protein

Rab9 effector protein with kelch motifs

Gene

RABEPK

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      Previous versions | rss
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    Functioni

    Rab9 effector required for endosome to trans-Golgi network (TGN) transport.1 Publication

    GO - Biological processi

    1. receptor-mediated endocytosis Source: ProtInc
    2. vesicle docking involved in exocytosis Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Rab9 effector protein with kelch motifs
    Alternative name(s):
    40 kDa Rab9 effector protein
    p40
    Gene namesi
    Name:RABEPK
    Synonyms:RAB9P40
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:16896. RABEPK.

    Subcellular locationi

    Cytoplasm. Endosome membrane
    Note: Interaction with PIP5K3 and subsequent phosphorylation recruits it to the endosomal membrane.

    GO - Cellular componenti

    1. endosome Source: ProtInc
    2. endosome membrane Source: UniProtKB-SubCell
    3. intracellular membrane-bounded organelle Source: HPA
    4. plasma membrane Source: HPA

    Keywords - Cellular componenti

    Cytoplasm, Endosome, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671100.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 372372Rab9 effector protein with kelch motifsPRO_0000280616Add
    BLAST

    Post-translational modificationi

    Phosphorylated on Ser residues most probably by PIP5K3.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ7Z6M1.
    PaxDbiQ7Z6M1.
    PRIDEiQ7Z6M1.

    PTM databases

    PhosphoSiteiQ7Z6M1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ7Z6M1.
    BgeeiQ7Z6M1.
    CleanExiHS_RABEPK.
    GenevestigatoriQ7Z6M1.

    Organism-specific databases

    HPAiHPA023920.

    Interactioni

    Subunit structurei

    Interacts with PIP5K3. Interacts with RAB9 in its GTP-bound conformation.3 Publications

    Protein-protein interaction databases

    BioGridi115538. 10 interactions.
    IntActiQ7Z6M1. 6 interactions.
    MINTiMINT-3034780.
    STRINGi9606.ENSP00000362639.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z6M1.
    SMRiQ7Z6M1. Positions 13-281.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati49 – 9547Kelch 1Add
    BLAST
    Repeati100 – 14647Kelch 2Add
    BLAST
    Repeati151 – 20050Kelch 3Add
    BLAST
    Repeati204 – 25047Kelch 4Add
    BLAST
    Repeati254 – 30350Kelch 5Add
    BLAST

    Sequence similaritiesi

    Contains 5 Kelch repeats.Curated

    Keywords - Domaini

    Kelch repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG305067.
    HOVERGENiHBG080504.
    InParanoidiQ7Z6M1.
    OMAiDANTLTW.
    OrthoDBiEOG77Q4XT.
    PhylomeDBiQ7Z6M1.
    TreeFamiTF329153.

    Family and domain databases

    Gene3Di2.120.10.80. 1 hit.
    InterProiIPR015915. Kelch-typ_b-propeller.
    IPR006652. Kelch_1.
    IPR011498. Kelch_2.
    [Graphical view]
    PfamiPF01344. Kelch_1. 1 hit.
    PF07646. Kelch_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q7Z6M1-1) [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

    MKQLPVLEPG DKPRKATWYT LTVPGDSPCA RVGHSCSYLP PVGNAKRGKV    50
    FIVGGANPNR SFSDVHTMDL GKHQWDLDTC KGLLPRYEHA SFIPSCTPDR 100
    IWVFGGANQS GNRNCLQVLN PETRTWTTPE VTSPPPSPRT FHTSSAAIGN 150
    QLYVFGGGER GAQPVQDTKL HVFDANTLTW SQPETLGNPP SPRHGHVMVA 200
    AGTKLFIHGG LAGDRFYDDL HCIDISDMKW QKLNPTGAAP AGCAAHSAVA 250
    MGKHVYIFGG MTPAGALDTM YQYHTEEQHW TLLKFDTLLP PGRLDHSMCI 300
    IPWPVTCASE KEDSNSLTLN HEAEKEDSAD KVMSHSGDSH EESQTATLLC 350
    LVFGGMNTEG EIYDDCIVTV VD 372
    Length:372
    Mass (Da):40,565
    Last modified:October 1, 2003 - v1
    Checksum:iFBB17B9C6260C62E
    GO
    Isoform 2 (identifier: Q7Z6M1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         71-121: Missing.

    Show »
    Length:321
    Mass (Da):34,841
    Checksum:i92ACDAAD554F818F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti8 – 81E → K in CAG46649. 1 PublicationCurated
    Sequence conflicti329 – 3291A → V in CAB09808. (PubMed:9230071)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti58 – 581P → A.
    Corresponds to variant rs13302059 [ dbSNP | Ensembl ].
    VAR_050058
    Natural varianti60 – 601R → G.1 Publication
    Corresponds to variant rs17855990 [ dbSNP | Ensembl ].
    VAR_031175
    Natural varianti67 – 671T → P.
    Corresponds to variant rs13302050 [ dbSNP | Ensembl ].
    VAR_031176
    Natural varianti73 – 731H → Y.2 Publications
    Corresponds to variant rs16927965 [ dbSNP | Ensembl ].
    VAR_031177
    Natural varianti95 – 951S → C.
    Corresponds to variant rs34991596 [ dbSNP | Ensembl ].
    VAR_050059
    Natural varianti313 – 3131D → G.1 Publication
    Corresponds to variant rs17849326 [ dbSNP | Ensembl ].
    VAR_031178
    Natural varianti333 – 3331M → I.
    Corresponds to variant rs15233 [ dbSNP | Ensembl ].
    VAR_031179

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei71 – 12151Missing in isoform 2. 1 PublicationVSP_023828Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z97074 mRNA. Translation: CAB09808.1.
    AK290768 mRNA. Translation: BAF83457.1.
    CR456837 mRNA. Translation: CAG33118.1.
    CR541851 mRNA. Translation: CAG46649.1.
    AL354710, AL445930 Genomic DNA. Translation: CAQ08743.1.
    AL445930, AL354710 Genomic DNA. Translation: CAI13681.1.
    CH471090 Genomic DNA. Translation: EAW87616.1.
    BC000503 mRNA. Translation: AAH00503.1.
    BC047023 mRNA. Translation: AAH47023.1.
    BC053541 mRNA. Translation: AAH53541.1.
    BC065725 mRNA. Translation: AAH65725.1.
    AL832249 mRNA. Translation: CAH10393.1.
    CCDSiCCDS55341.1. [Q7Z6M1-2]
    CCDS6862.1. [Q7Z6M1-1]
    RefSeqiNP_001167623.1. NM_001174152.1. [Q7Z6M1-1]
    NP_001167624.1. NM_001174153.1. [Q7Z6M1-2]
    NP_005824.2. NM_005833.3. [Q7Z6M1-1]
    UniGeneiHs.19012.

    Genome annotation databases

    EnsembliENST00000259460; ENSP00000259460; ENSG00000136933. [Q7Z6M1-2]
    ENST00000373538; ENSP00000362639; ENSG00000136933. [Q7Z6M1-1]
    ENST00000394125; ENSP00000377683; ENSG00000136933. [Q7Z6M1-1]
    GeneIDi10244.
    KEGGihsa:10244.
    UCSCiuc004bpi.3. human. [Q7Z6M1-1]
    uc004bpj.3. human. [Q7Z6M1-2]

    Polymorphism databases

    DMDMi74750172.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z97074 mRNA. Translation: CAB09808.1 .
    AK290768 mRNA. Translation: BAF83457.1 .
    CR456837 mRNA. Translation: CAG33118.1 .
    CR541851 mRNA. Translation: CAG46649.1 .
    AL354710 , AL445930 Genomic DNA. Translation: CAQ08743.1 .
    AL445930 , AL354710 Genomic DNA. Translation: CAI13681.1 .
    CH471090 Genomic DNA. Translation: EAW87616.1 .
    BC000503 mRNA. Translation: AAH00503.1 .
    BC047023 mRNA. Translation: AAH47023.1 .
    BC053541 mRNA. Translation: AAH53541.1 .
    BC065725 mRNA. Translation: AAH65725.1 .
    AL832249 mRNA. Translation: CAH10393.1 .
    CCDSi CCDS55341.1. [Q7Z6M1-2 ]
    CCDS6862.1. [Q7Z6M1-1 ]
    RefSeqi NP_001167623.1. NM_001174152.1. [Q7Z6M1-1 ]
    NP_001167624.1. NM_001174153.1. [Q7Z6M1-2 ]
    NP_005824.2. NM_005833.3. [Q7Z6M1-1 ]
    UniGenei Hs.19012.

    3D structure databases

    ProteinModelPortali Q7Z6M1.
    SMRi Q7Z6M1. Positions 13-281.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115538. 10 interactions.
    IntActi Q7Z6M1. 6 interactions.
    MINTi MINT-3034780.
    STRINGi 9606.ENSP00000362639.

    PTM databases

    PhosphoSitei Q7Z6M1.

    Polymorphism databases

    DMDMi 74750172.

    Proteomic databases

    MaxQBi Q7Z6M1.
    PaxDbi Q7Z6M1.
    PRIDEi Q7Z6M1.

    Protocols and materials databases

    DNASUi 10244.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000259460 ; ENSP00000259460 ; ENSG00000136933 . [Q7Z6M1-2 ]
    ENST00000373538 ; ENSP00000362639 ; ENSG00000136933 . [Q7Z6M1-1 ]
    ENST00000394125 ; ENSP00000377683 ; ENSG00000136933 . [Q7Z6M1-1 ]
    GeneIDi 10244.
    KEGGi hsa:10244.
    UCSCi uc004bpi.3. human. [Q7Z6M1-1 ]
    uc004bpj.3. human. [Q7Z6M1-2 ]

    Organism-specific databases

    CTDi 10244.
    GeneCardsi GC09P127962.
    HGNCi HGNC:16896. RABEPK.
    HPAi HPA023920.
    MIMi 605962. gene.
    neXtProti NX_Q7Z6M1.
    PharmGKBi PA142671100.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG305067.
    HOVERGENi HBG080504.
    InParanoidi Q7Z6M1.
    OMAi DANTLTW.
    OrthoDBi EOG77Q4XT.
    PhylomeDBi Q7Z6M1.
    TreeFami TF329153.

    Miscellaneous databases

    GeneWikii RABEPK.
    GenomeRNAii 10244.
    NextBioi 38812.
    PROi Q7Z6M1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z6M1.
    Bgeei Q7Z6M1.
    CleanExi HS_RABEPK.
    Genevestigatori Q7Z6M1.

    Family and domain databases

    Gene3Di 2.120.10.80. 1 hit.
    InterProi IPR015915. Kelch-typ_b-propeller.
    IPR006652. Kelch_1.
    IPR011498. Kelch_2.
    [Graphical view ]
    Pfami PF01344. Kelch_1. 1 hit.
    PF07646. Kelch_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel Rab9 effector required for endosome-to-TGN transport."
      Diaz E., Schimmoller F., Pfeffer S.R.
      J. Cell Biol. 138:283-290(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH RAB9.
    2. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT TYR-73.
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS GLY-60; TYR-73 AND GLY-313.
      Tissue: Bone marrow, Lung and Mammary gland.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-121.
      Tissue: Endometrial tumor.
    8. "Active PIKfyve associates with and promotes the membrane attachment of the late endosome-to-trans-Golgi network transport factor Rab9 effector p40."
      Ikonomov O.C., Sbrissa D., Mlak K., Deeb R., Fligger J., Soans A., Finley R.L. Jr., Shisheva A.
      J. Biol. Chem. 278:50863-50871(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PIP5K3, SUBCELLULAR LOCATION, PHOSPHORYLATION.
    9. "TIP47 is a key effector for Rab9 localization."
      Aivazian D., Serrano R.L., Pfeffer S.
      J. Cell Biol. 173:917-926(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RAB9, SUBCELLULAR LOCATION.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiRABEK_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z6M1
    Secondary accession number(s): A8K403
    , O00568, Q69YR2, Q6FHA4, Q6IBG7, Q6P092, Q86Y76, Q9BWB1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: October 1, 2003
    Last modified: October 1, 2014
    This is version 98 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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

    External Data

    Dasty 3