Q7Z6M1 (RABEK_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Rab9 effector protein with kelch motifs

Alternative name(s):
40 kDa Rab9 effector protein
p40

Gene names

Name:	RABEPK
Synonyms:	RAB9P40

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	372 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Cytoplasm Endosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Kelch repeat Repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	receptor-mediated endocytosis Traceable author statement Ref.1. Source: ProtInc vesicle docking involved in exocytosis Traceable author statement Ref.1. Source: ProtInc
Cellular_component	endosome Traceable author statement Ref.1. Source: ProtInc endosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membrane Inferred from direct assay. Source: HPA
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 372	372	Rab9 effector protein with kelch motifs		PRO_0000280616
Regions
	Repeat	49 – 95	47	Kelch 1
	Repeat	100 – 146	47	Kelch 2
	Repeat	151 – 200	50	Kelch 3
	Repeat	204 – 250	47	Kelch 4
	Repeat	254 – 303	50	Kelch 5
Natural variations
	Alternative sequence	71 – 121	51	Missing in isoform 2.		VSP_023828
	Natural variant	58	1	P → A. Corresponds to variant rs13302059 [ dbSNP | Ensembl ].		VAR_050058
	Natural variant	60	1	R → G. Ref.6 Corresponds to variant rs17855990 [ dbSNP | Ensembl ].		VAR_031175
	Natural variant	67	1	T → P. Corresponds to variant rs13302050 [ dbSNP | Ensembl ].		VAR_031176
	Natural variant	73	1	H → Y. Ref.3 Ref.6 Corresponds to variant rs16927965 [ dbSNP | Ensembl ].		VAR_031177
	Natural variant	95	1	S → C. Corresponds to variant rs34991596 [ dbSNP | Ensembl ].		VAR_050059
	Natural variant	313	1	D → G. Ref.6 Corresponds to variant rs17849326 [ dbSNP | Ensembl ].		VAR_031178
	Natural variant	333	1	M → I. Corresponds to variant rs15233 [ dbSNP | Ensembl ].		VAR_031179
Experimental info
	Sequence conflict	8	1	E → K in CAG46649. Ref.3
	Sequence conflict	329	1	A → V in CAB09808. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2003. Version 1. Checksum: FBB17B9C6260C62E	FASTA	372	40,565
	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
	Isoform 2 [UniParc]. Checksum: 92ACDAAD554F818F	FASTA	321	34,841
	10 20 30 40 50 60 MKQLPVLEPG DKPRKATWYT LTVPGDSPCA RVGHSCSYLP PVGNAKRGKV FIVGGANPNR 70 80 90 100 110 120 SFSDVHTMDL ETRTWTTPEV TSPPPSPRTF HTSSAAIGNQ LYVFGGGERG AQPVQDTKLH 130 140 150 160 170 180 VFDANTLTWS QPETLGNPPS PRHGHVMVAA GTKLFIHGGL AGDRFYDDLH CIDISDMKWQ 190 200 210 220 230 240 KLNPTGAAPA GCAAHSAVAM GKHVYIFGGM TPAGALDTMY QYHTEEQHWT LLKFDTLLPP 250 260 270 280 290 300 GRLDHSMCII PWPVTCASEK EDSNSLTLNH EAEKEDSADK VMSHSGDSHE ESQTATLLCL 310 320 VFGGMNTEGE IYDDCIVTVV D

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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].
+	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.
IPI	IPI00384623. IPI00639811.
RefSeq	NP_001167623.1. NM_001174152.1. NP_001167624.1. NM_001174153.1. NP_005824.2. NM_005833.3.
UniGene	Hs.19012.
3D structure databases
ProteinModelPortal	Q7Z6M1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z6M1. 1 interaction.
STRING	9606.ENSP00000362639.
PTM databases
PhosphoSite	Q7Z6M1.
Polymorphism databases
DMDM	74750172.
Proteomic databases
PaxDb	Q7Z6M1.
PRIDE	Q7Z6M1.
Protocols and materials databases
DNASU	10244.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000259460; ENSP00000259460; ENSG00000136933. ENST00000373538; ENSP00000362639; ENSG00000136933. ENST00000394125; ENSP00000377683; ENSG00000136933.
GeneID	10244.
KEGG	hsa:10244.
UCSC	uc004bpi.3. human. uc004bpj.3. human.
Organism-specific databases
CTD	10244.
GeneCards	GC09P127962.
HGNC	HGNC:16896. RABEPK.
HPA	HPA023920.
MIM	605962. gene.
neXtProt	NX_Q7Z6M1.
PharmGKB	PA142671100.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG305067.
HOVERGEN	HBG080504.
InParanoid	Q7Z6M1.
OMA	CTPHSIW.
PhylomeDB	Q7Z6M1.
Gene expression databases
ArrayExpress	Q7Z6M1.
Bgee	Q7Z6M1.
CleanEx	HS_RABEPK.
Genevestigator	Q7Z6M1.
Family and domain databases
Gene3D	2.120.10.80. 1 hit.
InterPro	IPR015915. Kelch-typ_b-propeller. IPR006652. Kelch_1. IPR011498. Kelch_2. [Graphical view]
Pfam	PF01344. Kelch_1. 1 hit. PF07646. Kelch_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10244.
NextBio	38812.
SOURCE	Search...

Entry information

Entry name

RABEK_HUMAN

Accession

Primary (citable) accession number: Q7Z6M1
Secondary accession number(s): A8K403 , 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:	May 1, 2013
This is version 85 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.