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Q7Z6M1

- RABEK_HUMAN

UniProt

Q7Z6M1 - RABEK_HUMAN

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Protein

Rab9 effector protein with kelch motifs

Gene
RABEPK, RAB9P40
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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.3 Publications

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
Complete GO annotation...

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.

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.

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

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. VSP_023828Add
BLAST

Sequence conflict

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

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 97 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

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