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Q7Z6M1 (RABEK_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Rab9 effector protein with kelch motifs
Alternative name(s):
40 kDa Rab9 effector protein
p40
Gene names
Name:RABEPK
Synonyms:RAB9P40
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length372 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with PIP5K3. Interacts with RAB9 in its GTP-bound conformation. Ref.1 Ref.8 Ref.9

Subcellular location

Cytoplasm. Endosome membrane. Note: Interaction with PIP5K3 and subsequent phosphorylation recruits it to the endosomal membrane. Ref.1 Ref.8 Ref.9

Post-translational modification

Phosphorylated on Ser residues most probably by PIP5K3. Ref.8

Sequence similarities

Contains 5 Kelch repeats.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z6M1-1)

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.
Isoform 2 (identifier: Q7Z6M1-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 372372Rab9 effector protein with kelch motifs
PRO_0000280616

Regions

Repeat49 – 9547Kelch 1
Repeat100 – 14647Kelch 2
Repeat151 – 20050Kelch 3
Repeat204 – 25047Kelch 4
Repeat254 – 30350Kelch 5

Natural variations

Alternative sequence71 – 12151Missing in isoform 2.
VSP_023828
Natural variant581P → A.
Corresponds to variant rs13302059 [ dbSNP | Ensembl ].
VAR_050058
Natural variant601R → G. Ref.6
Corresponds to variant rs17855990 [ dbSNP | Ensembl ].
VAR_031175
Natural variant671T → P.
Corresponds to variant rs13302050 [ dbSNP | Ensembl ].
VAR_031176
Natural variant731H → Y. Ref.3 Ref.6
Corresponds to variant rs16927965 [ dbSNP | Ensembl ].
VAR_031177
Natural variant951S → C.
Corresponds to variant rs34991596 [ dbSNP | Ensembl ].
VAR_050059
Natural variant3131D → G. Ref.6
Corresponds to variant rs17849326 [ dbSNP | Ensembl ].
VAR_031178
Natural variant3331M → I.
Corresponds to variant rs15233 [ dbSNP | Ensembl ].
VAR_031179

Experimental info

Sequence conflict81E → K in CAG46649. Ref.3
Sequence conflict3291A → V in CAB09808. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: FBB17B9C6260C62E

FASTA37240,565
        10         20         30         40         50         60 
MKQLPVLEPG DKPRKATWYT LTVPGDSPCA RVGHSCSYLP PVGNAKRGKV FIVGGANPNR 

        70         80         90        100        110        120 
SFSDVHTMDL GKHQWDLDTC KGLLPRYEHA SFIPSCTPDR IWVFGGANQS GNRNCLQVLN 

       130        140        150        160        170        180 
PETRTWTTPE VTSPPPSPRT FHTSSAAIGN QLYVFGGGER GAQPVQDTKL HVFDANTLTW 

       190        200        210        220        230        240 
SQPETLGNPP SPRHGHVMVA AGTKLFIHGG LAGDRFYDDL HCIDISDMKW QKLNPTGAAP 

       250        260        270        280        290        300 
AGCAAHSAVA MGKHVYIFGG MTPAGALDTM YQYHTEEQHW TLLKFDTLLP PGRLDHSMCI 

       310        320        330        340        350        360 
IPWPVTCASE KEDSNSLTLN HEAEKEDSAD KVMSHSGDSH EESQTATLLC LVFGGMNTEG 

       370 
EIYDDCIVTV VD 

« Hide

Isoform 2 [UniParc].

Checksum: 92ACDAAD554F818F
Show »

FASTA32134,841

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS55341.1. [Q7Z6M1-2]
CCDS6862.1. [Q7Z6M1-1]
RefSeqNP_001167623.1. NM_001174152.1. [Q7Z6M1-1]
NP_001167624.1. NM_001174153.1. [Q7Z6M1-2]
NP_005824.2. NM_005833.3. [Q7Z6M1-1]
UniGeneHs.19012.

3D structure databases

ProteinModelPortalQ7Z6M1.
SMRQ7Z6M1. Positions 13-281.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115538. 8 interactions.
IntActQ7Z6M1. 6 interactions.
MINTMINT-3034780.
STRING9606.ENSP00000362639.

PTM databases

PhosphoSiteQ7Z6M1.

Polymorphism databases

DMDM74750172.

Proteomic databases

MaxQBQ7Z6M1.
PaxDbQ7Z6M1.
PRIDEQ7Z6M1.

Protocols and materials databases

DNASU10244.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000259460; ENSP00000259460; ENSG00000136933. [Q7Z6M1-2]
ENST00000373538; ENSP00000362639; ENSG00000136933. [Q7Z6M1-1]
ENST00000394125; ENSP00000377683; ENSG00000136933. [Q7Z6M1-1]
GeneID10244.
KEGGhsa:10244.
UCSCuc004bpi.3. human. [Q7Z6M1-1]
uc004bpj.3. human. [Q7Z6M1-2]

Organism-specific databases

CTD10244.
GeneCardsGC09P127962.
HGNCHGNC:16896. RABEPK.
HPAHPA023920.
MIM605962. gene.
neXtProtNX_Q7Z6M1.
PharmGKBPA142671100.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG305067.
HOVERGENHBG080504.
InParanoidQ7Z6M1.
OMADANTLTW.
OrthoDBEOG77Q4XT.
PhylomeDBQ7Z6M1.
TreeFamTF329153.

Gene expression databases

ArrayExpressQ7Z6M1.
BgeeQ7Z6M1.
CleanExHS_RABEPK.
GenevestigatorQ7Z6M1.

Family and domain databases

Gene3D2.120.10.80. 1 hit.
InterProIPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011498. Kelch_2.
[Graphical view]
PfamPF01344. Kelch_1. 1 hit.
PF07646. Kelch_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRABEPK.
GenomeRNAi10244.
NextBio38812.
PROQ7Z6M1.
SOURCESearch...

Entry information

Entry nameRABEK_HUMAN
AccessionPrimary (citable) accession number: Q7Z6M1
Secondary accession number(s): A8K403 expand/collapse secondary AC list , O00568, Q69YR2, Q6FHA4, Q6IBG7, Q6P092, Q86Y76, Q9BWB1
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 1, 2003
Last modified: July 9, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM