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

    Gene ID: 10244, updated on 3-Dec-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001174152.2NP_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: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_001174153.2NP_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: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
      A8K403, O00568, Q69YR2, Q6FHA4, Q6IBG7, Q6P092, Q7Z6M1, Q86Y76, Q9BWB1
      UniProtKB/TrEMBL
      A0A024R8A0
      Related
      ENSP00000362639.3, ENST00000373538.8
      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

    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_017014177.2XP_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: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. XM_005251644.5XP_005251701.1  rab9 effector protein with kelch motifs isoform X6

      UniProtKB/TrEMBL
      A0A0S2Z4Z1
      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
    3. XM_005251642.5XP_005251699.1  rab9 effector protein with kelch motifs isoform X4

      UniProtKB/TrEMBL
      A0A0S2Z4Z1
      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
    4. XM_005251641.5XP_005251698.1  rab9 effector protein with kelch motifs isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4Z1
      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
    5. XM_005251640.6XP_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
    6. XM_017014179.2XP_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_054361699.1XP_054217674.1  rab9 effector protein with kelch motifs isoform X6

      UniProtKB/TrEMBL
      A0A0S2Z4Z1
    2. XM_054361697.1XP_054217672.1  rab9 effector protein with kelch motifs isoform X4

      UniProtKB/TrEMBL
      A0A0S2Z4Z1
    3. XM_054361696.1XP_054217671.1  rab9 effector protein with kelch motifs isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4Z1
    4. XM_054361695.1XP_054217670.1  rab9 effector protein with kelch motifs isoform X1

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