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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
    mouse all
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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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    Related articles in PubMed

    1. Active PIKfyve associates with and promotes the membrane attachment of the late endosome-to-trans-Golgi network transport factor Rab9 effector p40. Ikonomov OC, et al. J Biol Chem, 2003 Dec 19. PMID 14530284
    2. TIP47 is a key effector for Rab9 localization. Aivazian D, et al. J Cell Biol, 2006 Jun 19. PMID 16769818, Free PMC Article
    3. A novel Rab9 effector required for endosome-to-TGN transport. Díaz E, et al. J Cell Biol, 1997 Jul 28. PMID 9230071, Free PMC Article
    4. Identification of host proteins required for HIV infection through a functional genomic screen. Brass AL, et al. Science, 2008 Feb 15. PMID 18187620
    5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242

    See all (22) citations in PubMed

    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)

    Genotypes

    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

    Gene LinkOut

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