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RGPD6 RANBP2 like and GRIP domain containing 6 [ Homo sapiens (human) ]

Gene ID: 729540, updated on 3-Apr-2024

Summary

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Official Symbol
RGPD6provided by HGNC
Official Full Name
RANBP2 like and GRIP domain containing 6provided by HGNC
Primary source
HGNC:HGNC:32419
See related
Ensembl:ENSG00000183054 MIM:612709; AllianceGenome:HGNC:32419
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
RGP6; RGPD7; RanBP2L1; RanBP2L2
Summary
Predicted to contribute to GTPase activator activity. Predicted to be involved in NLS-bearing protein import into nucleus. Predicted to be part of nuclear pore. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 24.0), brain (RPKM 8.3) and 25 other tissues See more
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Genomic context

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Location:
2q13
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (110513802..110611056, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (110936277..111033955, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (111271379..111368633, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene LIM zinc finger domain containing 4 Neighboring gene uncharacterized LOC105373552 Neighboring gene uncharacterized LOC102724875 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:111339275-111339775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:111367745-111368317 Neighboring gene uncharacterized LOC105373553 Neighboring gene ribosomal protein L22 pseudogene 12

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
  • 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. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. Cantin GT, et al. J Proteome Res, 2008 Mar. PMID 18220336
  2. Identification of a novel Ran binding protein 2 related gene (RANBP2L1) and detection of a gene cluster on human chromosome 2q11-q12. Nothwang HG, et al. Genomics, 1998 Feb 1. PMID 9480752
  3. Complex genomic rearrangements lead to novel primate gene function. Ciccarelli FD, et al. Genome Res, 2005 Mar. PMID 15710750, Free PMC Article
  4. A quantitative atlas of mitotic phosphorylation. Dephoure N, et al. Proc Natl Acad Sci U S A, 2008 Aug 5. PMID 18669648, Free PMC Article
  5. Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human. Leparc GG, et al. Nucleic Acids Res, 2007. PMID 17452356, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC190070

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in NLS-bearing protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
RANBP2-like and GRIP domain-containing protein 5/6
Names
RANBP2-like and GRIP domain-containing protein 7
ran-binding protein 2-like 1/2
ranBP2-like 1/2

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_001037866.2 → NP_001032955.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 2

    See identical proteins and their annotated locations for NP_001032955.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a substantially shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC108938, AC226101
    Consensus CDS
    CCDS42729.1
    Related
    ENSP00000330023.5, ENST00000330331.9
    Conserved Domains (3) summary
    sd00006
    Location:59 → 89
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:60 → 92
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:59 → 126
    TPR_11; TPR repeat

  2. NM_001123363.4 → NP_001116835.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 1

    See identical proteins and their annotated locations for NP_001116835.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC108938, AC226101
    Consensus CDS
    CCDS46388.1
    UniProtKB/Swiss-Prot
    Q53QN2, Q53T03, Q59GM7, Q99666, Q9H0B2
    UniProtKB/TrEMBL
    A0A8Q3SIN4, V9HWE4
    Related
    ENSP00000330842.3, ENST00000329516.8
    Conserved Domains (8) summary
    COG5171
    Location:975 → 1167
    YRB1; Ran GTPase-activating protein (Ran-binding protein) [Intracellular trafficking and secretion]
    cd13177
    Location:1051 → 1167
    RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
    cd14685
    Location:1348 → 1464
    RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
    sd00006
    Location:59 → 89
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:60 → 92
    TPR_1; Tetratricopeptide repeat
    pfam01465
    Location:1707 → 1749
    GRIP; GRIP domain
    pfam13414
    Location:59 → 126
    TPR_11; TPR repeat
    pfam16704
    Location:1641 → 1705
    Rab_bind; Rab binding domain

  3. NM_001384362.1 → NP_001371291.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC108938, AC226101
    UniProtKB/TrEMBL
    J3KQ37
    Conserved Domains (4) summary
    cd13177
    Location:766 → 882
    RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
    cd14685
    Location:1063 → 1179
    RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
    pfam16704
    Location:1356 → 1420
    Rab_bind; Rab binding domain
    pfam01465
    Location:1422 → 1464
    GRIP; GRIP domain

  4. NM_001384363.1 → NP_001371292.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC108938, AC226101
    Consensus CDS
    CCDS92839.1
    UniProtKB/TrEMBL
    A0A8Q3SII4, A0A8Q3SIN4
    Related
    ENSP00000512635.1, ENST00000696448.1
    Conserved Domains (7) summary
    COG0457
    Location:13 → 109
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd13177
    Location:1034 → 1150
    RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
    cd14685
    Location:1331 → 1447
    RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
    sd00006
    Location:42 → 72
    TPR; TPR repeat [structural motif]
    pfam16704
    Location:1624 → 1688
    Rab_bind; Rab binding domain
    pfam00515
    Location:43 → 75
    TPR_1; Tetratricopeptide repeat
    pfam01465
    Location:1690 → 1732
    GRIP; GRIP domain

  5. NM_001384364.1 → NP_001371293.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC108938, AC226101
    UniProtKB/TrEMBL
    A0A8Q3SIN4
    Conserved Domains (7) summary
    COG0457
    Location:4 → 100
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd13177
    Location:1025 → 1141
    RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
    cd14685
    Location:1322 → 1438
    RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
    sd00006
    Location:33 → 63
    TPR; TPR repeat [structural motif]
    pfam16704
    Location:1615 → 1679
    Rab_bind; Rab binding domain
    pfam00515
    Location:34 → 66
    TPR_1; Tetratricopeptide repeat
    pfam01465
    Location:1681 → 1723
    GRIP; GRIP domain

  6. NM_001386141.1 → NP_001373070.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC108938, AC226101
    UniProtKB/TrEMBL
    J3KQ37
    Conserved Domains (4) summary
    cd13177
    Location:766 → 882
    RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
    cd14685
    Location:1063 → 1179
    RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
    pfam16704
    Location:1356 → 1420
    Rab_bind; Rab binding domain
    pfam01465
    Location:1422 → 1464
    GRIP; GRIP domain

  7. NM_001386145.1 → NP_001373074.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC108938, AC226101
    UniProtKB/TrEMBL
    A0A8Q3SIN4
    Conserved Domains (7) summary
    COG0457
    Location:29 → 125
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    cd13177
    Location:1050 → 1166
    RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
    cd14685
    Location:1347 → 1463
    RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
    sd00006
    Location:58 → 88
    TPR; TPR repeat [structural motif]
    pfam16704
    Location:1640 → 1704
    Rab_bind; Rab binding domain
    pfam00515
    Location:59 → 91
    TPR_1; Tetratricopeptide repeat
    pfam01465
    Location:1706 → 1748
    GRIP; GRIP domain

  8. NM_001386155.1 → NP_001373084.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC108938, AC226101
    UniProtKB/TrEMBL
    J3KQ37
    Conserved Domains (4) summary
    cd13177
    Location:766 → 882
    RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
    cd14685
    Location:1063 → 1179
    RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
    pfam16704
    Location:1356 → 1420
    Rab_bind; Rab binding domain
    pfam01465
    Location:1422 → 1464
    GRIP; GRIP domain

  9. NM_001386159.1 → NP_001373088.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC108938, AC226101
    UniProtKB/TrEMBL
    J3KQ37
    Conserved Domains (4) summary
    cd13177
    Location:766 → 882
    RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
    cd14685
    Location:1063 → 1179
    RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
    pfam16704
    Location:1356 → 1420
    Rab_bind; Rab binding domain
    pfam01465
    Location:1422 → 1464
    GRIP; GRIP domain

  10. NM_001386163.1 → NP_001373092.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC108938, AC226101
    UniProtKB/TrEMBL
    B4DTT2
    Conserved Domains (4) summary
    cd13177
    Location:396 → 512
    RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
    cd14685
    Location:693 → 809
    RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
    pfam16704
    Location:986 → 1050
    Rab_bind; Rab binding domain
    pfam01465
    Location:1052 → 1094
    GRIP; GRIP domain

  11. NM_001387273.1 → NP_001374202.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC108938, AC226101
    UniProtKB/TrEMBL
    J3KQ37
    Conserved Domains (4) summary
    cd13177
    Location:766 → 882
    RanBD2_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 2
    cd14685
    Location:1063 → 1179
    RanBD3_RanBP2-like; Ran-binding protein 2, Ran binding domain repeat 3
    pfam16704
    Location:1356 → 1420
    Rab_bind; Rab binding domain
    pfam01465
    Location:1422 → 1464
    GRIP; GRIP domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    110513802..110611056 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445731.1 → XP_047301687.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform X2

  2. XM_047445732.1 → XP_047301688.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform X3

  3. XM_017004839.2 → XP_016860328.2  RANBP2-like and GRIP domain-containing protein 5/6 isoform X1

  4. XM_047445733.1 → XP_047301689.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform X8

  5. XM_017004841.2 → XP_016860330.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform X4

    UniProtKB/TrEMBL
    A0A8Q3SIN4

  6. XM_011511770.3 → XP_011510072.2  RANBP2-like and GRIP domain-containing protein 5/6 isoform X7

    UniProtKB/TrEMBL
    A0A8Q3SII5
    Related
    ENSP00000512636.1, ENST00000696449.1

  7. XM_011511769.3 → XP_011510071.2  RANBP2-like and GRIP domain-containing protein 5/6 isoform X5

  8. XM_017004843.2 → XP_016860332.2  RANBP2-like and GRIP domain-containing protein 5/6 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    110936277..111033955 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343727.1 → XP_054199702.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform X1

  2. XM_054343732.1 → XP_054199707.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform X8

  3. XM_054343728.1 → XP_054199703.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform X4

  4. XM_054343731.1 → XP_054199706.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform X7

    UniProtKB/TrEMBL
    A0A8Q3SII5

  5. XM_054343729.1 → XP_054199704.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform X5

  6. XM_054343730.1 → XP_054199705.1  RANBP2-like and GRIP domain-containing protein 5/6 isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_169873.1: Suppressed sequence

    Description
    NR_169873.1: This RefSeq was removed because it is now thought that this transcript does encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99666.3 GenPept UniProtKB/Swiss-Prot:Q99666

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