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

Gene ID: 10244, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:16896
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
Summary
Predicted to be involved in receptor-mediated endocytosis and vesicle docking involved in exocytosis. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in liver (RPKM 12.3), testis (RPKM 5.8) and 25 other tissues See more
Orthologs
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Genomic context

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See RABEPK in Genome Data Viewer
Location:
9q33.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (125200542..125234161)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (137398878..137432478)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (127962821..127996440)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 76 Neighboring gene uncharacterized LOC105376271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29000 Neighboring gene heat shock protein family A (Hsp70) member 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:128003252-128003756 and GRCh37_chr9:128003757-128004261 Neighboring gene HSPA5 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 12295

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. p40 interaction with PIKfyve p40 os demonstrated; PIKfyve interaction and the subsequent PIKfyve-catalyzed p40 phosphorylation anchor p40 to discrete membranes facilitating late endosome-to-TGN transport.
    Title: Active PIKfyve associates with and promotes the membrane attachment of the late endosome-to-trans-Golgi network transport factor Rab9 effector p40.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686P1077

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 PubMed 
involved_in vesicle docking involved in exocytosis TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endosome TAS
Traceable Author Statement
more info
 PubMed 
located_in endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in trans-Golgi network membrane TAS
Traceable Author Statement
more info
  
located_in transport vesicle TAS
Traceable Author Statement
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001174152.2 → NP_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)
    AL354710, BC053541, BC065725
    Consensus CDS
    CCDS6862.1
    UniProtKB/Swiss-Prot
    A8K403, O00568, Q69YR2, Q6FHA4, Q6IBG7, Q6P092, Q7Z6M1, Q86Y76, Q9BWB1
    UniProtKB/TrEMBL
    A0A024R8A0
    Related
    ENSP00000377683.4, ENST00000394125.8
    Conserved Domains (4) summary
    sd00038
    Location:139 → 189
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:243 → 283
    Kelch_1; Kelch motif
    pfam07646
    Location:31 → 76
    Kelch_2; Kelch motif
    pfam13415
    Location:99 → 147
    Kelch_3; Galactose oxidase, central domain

  2. NM_001174153.2 → NP_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)
    AL354710, BC047023, BC053541, BC065725
    Consensus CDS
    CCDS55341.1
    UniProtKB/TrEMBL
    A0A0S2Z4Z1, A0A0S2Z4Z5
    Related
    ENSP00000259460.8, ENST00000259460.12
    Conserved Domains (3) summary
    sd00038
    Location:88 → 138
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:192 → 232
    Kelch_1; Kelch motif
    pfam13415
    Location:47 → 96
    Kelch_3; Galactose oxidase, central domain

  3. NM_005833.4 → NP_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
    A8K403, O00568, Q69YR2, Q6FHA4, Q6IBG7, Q6P092, Q7Z6M1, Q86Y76, Q9BWB1
    UniProtKB/TrEMBL
    A0A024R8A0
    Related
    ENSP00000362639.3, ENST00000373538.8
    Conserved Domains (4) summary
    sd00038
    Location:139 → 189
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:243 → 283
    Kelch_1; Kelch motif
    pfam07646
    Location:31 → 76
    Kelch_2; Kelch motif
    pfam13415
    Location:99 → 147
    Kelch_3; Galactose oxidase, central domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    125200542..125234161
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014177.2 → XP_016869666.1  rab9 effector protein with kelch motifs isoform X2

    UniProtKB/Swiss-Prot
    A8K403, O00568, Q69YR2, Q6FHA4, Q6IBG7, Q6P092, Q7Z6M1, Q86Y76, Q9BWB1
    UniProtKB/TrEMBL
    A0A024R8A0
    Conserved Domains (4) summary
    sd00038
    Location:139 → 189
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:243 → 283
    Kelch_1; Kelch motif
    pfam07646
    Location:31 → 76
    Kelch_2; Kelch motif
    pfam13415
    Location:99 → 147
    Kelch_3; Galactose oxidase, central domain

  2. XM_005251644.5 → XP_005251701.1  rab9 effector protein with kelch motifs isoform X6

    UniProtKB/TrEMBL
    A0A0S2Z4Z1
    Conserved Domains (3) summary
    sd00038
    Location:39 → 92
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:146 → 186
    Kelch_1; Kelch motif
    pfam13415
    Location:55 → 104
    Kelch_3; Galactose oxidase, central domain

  3. XM_005251642.5 → XP_005251699.1  rab9 effector protein with kelch motifs isoform X4

    UniProtKB/TrEMBL
    A0A0S2Z4Z1
    Conserved Domains (4) summary
    sd00038
    Location:94 → 143
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:197 → 237
    Kelch_1; Kelch motif
    pfam07646
    Location:39 → 84
    Kelch_2; Kelch motif
    pfam13415
    Location:107 → 155
    Kelch_3; Galactose oxidase, central domain

  4. XM_005251641.5 → XP_005251698.1  rab9 effector protein with kelch motifs isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4Z1
    Conserved Domains (3) summary
    sd00038
    Location:96 → 146
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:200 → 240
    Kelch_1; Kelch motif
    pfam13415
    Location:55 → 104
    Kelch_3; Galactose oxidase, central domain

  5. XM_005251640.6 → XP_005251697.1  rab9 effector protein with kelch motifs isoform X1

    Conserved Domains (4) summary
    sd00038
    Location:147 → 197
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:251 → 291
    Kelch_1; Kelch motif
    pfam07646
    Location:39 → 84
    Kelch_2; Kelch motif
    pfam13415
    Location:107 → 155
    Kelch_3; Galactose oxidase, central domain

  6. XM_017014179.2 → XP_016869668.1  rab9 effector protein with kelch motifs isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    137398878..137432478
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361699.1 → XP_054217674.1  rab9 effector protein with kelch motifs isoform X6

  2. XM_054361697.1 → XP_054217672.1  rab9 effector protein with kelch motifs isoform X4

  3. XM_054361696.1 → XP_054217671.1  rab9 effector protein with kelch motifs isoform X3

  4. XM_054361695.1 → XP_054217670.1  rab9 effector protein with kelch motifs isoform X1

  5. XM_054361698.1 → XP_054217673.1  rab9 effector protein with kelch motifs isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z6M1.1 GenPept UniProtKB/Swiss-Prot:Q7Z6M1

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