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RABEPK Rab9 effector protein with kelch motifs [ Homo sapiens (human) ]

Gene ID: 10244, updated on 17-Jun-2019

Summary

Official Symbol
RABEPKprovided by HGNC
Official Full Name
Rab9 effector protein with kelch motifsprovided by HGNC
Primary source
HGNC:HGNC:16896
See related
Ensembl:ENSG00000136933 MIM:605962
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p40; RAB9P40; bA65N13.1
Expression
Ubiquitous expression in liver (RPKM 12.3), testis (RPKM 5.8) and 25 other tissues See more
Orthologs

Genomic context

See RABEPK in Genome Data Viewer
Location:
9q33.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (125200493..125234161)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (127962821..127996438)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 76 Neighboring gene uncharacterized LOC105376271 Neighboring gene heat shock protein family A (Hsp70) member 5 Neighboring gene Sharpr-MPRA regulatory region 7891 Neighboring gene uncharacterized LOC107987127

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of Rab9 effector protein with kelch motifs (RABEPK) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Retrograde transport at the Trans-Golgi-Network, organism-specific biosystem (from REACTOME)
    Retrograde transport at the Trans-Golgi-Network, organism-specific biosystemThe trans-Golgi network is the docking site for retrograde cargo from the endolysosomal system and the plasma membrane. Typical cargo includes recycling resident TGN proteins such as TGOLN2 (also kn...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686P1077

Gene Ontology Provided by GOA

Process Evidence Code Pubs
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
PubMed 
vesicle docking involved in exocytosis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
endosome TAS
Traceable Author Statement
more info
PubMed 
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 
transport vesicle TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
rab9 effector protein with kelch motifs
Names
40 kDa Rab9 effector protein
Rab9 effector p40

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001174152.1NP_001167623.1  rab9 effector protein with kelch motifs isoform a

    See identical proteins and their annotated locations for NP_001167623.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    BC053541, BC065725
    Consensus CDS
    CCDS6862.1
    UniProtKB/Swiss-Prot
    Q7Z6M1
    UniProtKB/TrEMBL
    A0A024R8A0
    Related
    ENSP00000377683.4, ENST00000394125.8
    Conserved Domains (4) summary
    sd00038
    Location:139189
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:243283
    Kelch_1; Kelch motif
    pfam07646
    Location:3176
    Kelch_2; Kelch motif
    pfam13415
    Location:99147
    Kelch_3; Galactose oxidase, central domain
  2. NM_001174153.1NP_001167624.1  rab9 effector protein with kelch motifs isoform b

    See identical proteins and their annotated locations for NP_001167624.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BC047023, BC053541, BC065725
    Consensus CDS
    CCDS55341.1
    UniProtKB/Swiss-Prot
    Q7Z6M1
    UniProtKB/TrEMBL
    A0A0S2Z4Z5
    Related
    ENSP00000259460.8, ENST00000259460.12
    Conserved Domains (3) summary
    sd00038
    Location:88138
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:192232
    Kelch_1; Kelch motif
    pfam13415
    Location:4796
    Kelch_3; Galactose oxidase, central domain
  3. NM_005833.4NP_005824.2  rab9 effector protein with kelch motifs isoform a

    See identical proteins and their annotated locations for NP_005824.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AL354710, AL445930, BC053541, CX758286
    Consensus CDS
    CCDS6862.1
    UniProtKB/Swiss-Prot
    Q7Z6M1
    UniProtKB/TrEMBL
    A0A024R8A0
    Related
    ENSP00000362639.3, ENST00000373538.7
    Conserved Domains (4) summary
    sd00038
    Location:139189
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:243283
    Kelch_1; Kelch motif
    pfam07646
    Location:3176
    Kelch_2; Kelch motif
    pfam13415
    Location:99147
    Kelch_3; Galactose oxidase, central domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    125200493..125234161
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447373.1XP_024303141.1  rab9 effector protein with kelch motifs isoform X8

    Conserved Domains (3) summary
    sd00038
    Location:86135
    Kelch; KELCH repeat [structural motif]
    cl26060
    Location:5218
    NanM; N-acetylneuraminic acid mutarotase [Cell wall/membrane/envelope biogenesis]
    cl26061
    Location:126274
    PLN02193; nitrile-specifier protein
  2. XM_024447375.1XP_024303143.1  rab9 effector protein with kelch motifs isoform X12

    Conserved Domains (2) summary
    sd00038
    Location:86135
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:50223
    PLN02193; nitrile-specifier protein
  3. XM_017014178.1XP_016869667.1  rab9 effector protein with kelch motifs isoform X5

    Conserved Domains (4) summary
    sd00038
    Location:86135
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:189229
    Kelch_1; Kelch motif
    pfam07646
    Location:3176
    Kelch_2; Kelch motif
    pfam13415
    Location:99147
    Kelch_3; Galactose oxidase, central domain
  4. XM_017014180.1XP_016869669.1  rab9 effector protein with kelch motifs isoform X10

    UniProtKB/TrEMBL
    A0A0S2Z4Z1
    Conserved Domains (3) summary
    sd00038
    Location:3184
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:138178
    Kelch_1; Kelch motif
    pfam13415
    Location:4796
    Kelch_3; Galactose oxidase, central domain
  5. XM_017014177.1XP_016869666.1  rab9 effector protein with kelch motifs isoform X2

    UniProtKB/Swiss-Prot
    Q7Z6M1
    UniProtKB/TrEMBL
    A0A024R8A0
    Conserved Domains (4) summary
    sd00038
    Location:139189
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:243283
    Kelch_1; Kelch motif
    pfam07646
    Location:3176
    Kelch_2; Kelch motif
    pfam13415
    Location:99147
    Kelch_3; Galactose oxidase, central domain
  6. XM_017014182.1XP_016869671.1  rab9 effector protein with kelch motifs isoform X10

    UniProtKB/TrEMBL
    A0A0S2Z4Z1
    Conserved Domains (3) summary
    sd00038
    Location:3184
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:138178
    Kelch_1; Kelch motif
    pfam13415
    Location:4796
    Kelch_3; Galactose oxidase, central domain
  7. XM_017014181.1XP_016869670.1  rab9 effector protein with kelch motifs isoform X10

    UniProtKB/TrEMBL
    A0A0S2Z4Z1
    Conserved Domains (3) summary
    sd00038
    Location:3184
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:138178
    Kelch_1; Kelch motif
    pfam13415
    Location:4796
    Kelch_3; Galactose oxidase, central domain
  8. XM_024447374.1XP_024303142.1  rab9 effector protein with kelch motifs isoform X8

    Conserved Domains (3) summary
    sd00038
    Location:86135
    Kelch; KELCH repeat [structural motif]
    cl26060
    Location:5218
    NanM; N-acetylneuraminic acid mutarotase [Cell wall/membrane/envelope biogenesis]
    cl26061
    Location:126274
    PLN02193; nitrile-specifier protein
  9. XM_017014183.1XP_016869672.1  rab9 effector protein with kelch motifs isoform X11

  10. XM_005251644.4XP_005251701.1  rab9 effector protein with kelch motifs isoform X9

    Conserved Domains (3) summary
    sd00038
    Location:3992
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:146186
    Kelch_1; Kelch motif
    pfam13415
    Location:55104
    Kelch_3; Galactose oxidase, central domain
  11. XM_005251642.4XP_005251699.1  rab9 effector protein with kelch motifs isoform X4

    Conserved Domains (4) summary
    sd00038
    Location:94143
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:197237
    Kelch_1; Kelch motif
    pfam07646
    Location:3984
    Kelch_2; Kelch motif
    pfam13415
    Location:107155
    Kelch_3; Galactose oxidase, central domain
  12. XM_005251641.4XP_005251698.1  rab9 effector protein with kelch motifs isoform X3

    Conserved Domains (3) summary
    sd00038
    Location:96146
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:200240
    Kelch_1; Kelch motif
    pfam13415
    Location:55104
    Kelch_3; Galactose oxidase, central domain
  13. XM_011518120.2XP_011516422.1  rab9 effector protein with kelch motifs isoform X7

    Conserved Domains (4) summary
    sd00038
    Location:94143
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:200243
    Kelch_1; Kelch motif
    pfam07646
    Location:3984
    Kelch_2; Kelch motif
    pfam13415
    Location:107155
    Kelch_3; Galactose oxidase, central domain
  14. XM_005251640.5XP_005251697.1  rab9 effector protein with kelch motifs isoform X1

    Conserved Domains (4) summary
    sd00038
    Location:147197
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:251291
    Kelch_1; Kelch motif
    pfam07646
    Location:3984
    Kelch_2; Kelch motif
    pfam13415
    Location:107155
    Kelch_3; Galactose oxidase, central domain
  15. XM_017014179.1XP_016869668.1  rab9 effector protein with kelch motifs isoform X6

RNA

  1. XR_002956742.1 RNA Sequence

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