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    RALGAPB Ral GTPase activating protein non-catalytic subunit beta [ Homo sapiens (human) ]

    Gene ID: 57148, updated on 3-Apr-2024

    Summary

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    Official Symbol
    RALGAPBprovided by HGNC
    Official Full Name
    Ral GTPase activating protein non-catalytic subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:29221
    See related
    Ensembl:ENSG00000170471 MIM:618833; AllianceGenome:HGNC:29221
    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
    KIAA1219; RalGAPbeta
    Summary
    Enables protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.6), testis (RPKM 11.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q11.23
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (38472843..38578858)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (40202515..40308510)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (37101486..37207501)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, H/ACA box 71E Neighboring gene small nucleolar RNA host gene 11 Neighboring gene small nucleolar RNA, H/ACA box 60 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12899 Neighboring gene microRNA 548o-2 Neighboring gene ribosomal protein S3 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37189333-37189849 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:37193517-37194017 Neighboring gene MPRA-validated peak4208 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:37229033-37229574 Neighboring gene adipogenin Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:37236926-37237426 Neighboring gene Rho GTPase activating protein 40 Neighboring gene GINS complex subunit 2 (Psf2 homolog) pseudogene

    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. A role for Ral GTPase-activating protein subunit β in mitotic regulation. Personnic N, et al. FEBS J, 2014 Jul. PMID 24814574
    2. Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. Guo H, et al. Mol Autism, 2018. PMID 30564305, Free PMC Article
    3. De novo mutations in epileptic encephalopathies. Epi4K Consortium, et al. Nature, 2013 Sep 12. PMID 23934111, Free PMC Article
    4. Ral GTPase-activating protein regulates the malignancy of pancreatic ductal adenocarcinoma. Yoshimachi S, et al. Cancer Sci, 2021 Aug. PMID 34009715, Free PMC Article
    5. Adipocytes contain a novel complex similar to the tuberous sclerosis complex. Gridley S, et al. Cell Signal, 2006 Oct. PMID 16490346

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ral GTPase-activating protein regulates the malignancy of pancreatic ductal adenocarcinoma.
      Title: Ral GTPase-activating protein regulates the malignancy of pancreatic ductal adenocarcinoma.
    2. Deregulation of RalGAPbeta might cause genomic instability, leading to human carcinogenesis.
      Title: A role for Ral GTPase-activating protein subunit β in mitotic regulation.
    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-02-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2019-02-27)

    ClinGen Genome Curation PagePubMed

    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

    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

    • FLJ43270, FLJ43928, KIAA1219, dJ1100H13.1, DKFZp781M2411, RP5-1100H13.1, DKFZp686N19168

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in activation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ral GTPase-activating protein subunit beta
    Names
    Ral GTPase activating protein non-catalytic beta subunit
    Ral GTPase activating protein, beta subunit (non-catalytic)

    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_001282917.2 → NP_001269846.1  ral GTPase-activating protein subunit beta isoform 1

      See identical proteins and their annotated locations for NP_001269846.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AL035419, AL049868
      Consensus CDS
      CCDS13305.1
      UniProtKB/Swiss-Prot
      A2A2E8, A2A2E9, Q5TG31, Q86X10, Q8N3D1, Q8WWC0, Q9H3X8, Q9UJR1, Q9ULK1, Q9Y3G9
      UniProtKB/TrEMBL
      A2A2F0
      Related
      ENSP00000380233.1, ENST00000397040.5
      Conserved Domains (1) summary
      pfam02145
      Location:1178 → 1213
      Rap_GAP; Rap/ran-GAP

    2. NM_001282918.2 → NP_001269847.1  ral GTPase-activating protein subunit beta isoform 2

      See identical proteins and their annotated locations for NP_001269847.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AL035419, AL049868
      Consensus CDS
      CCDS63272.1
      UniProtKB/TrEMBL
      A2A2F0
      Related
      ENSP00000380235.3, ENST00000397042.7
      Conserved Domains (1) summary
      pfam02145
      Location:1174 → 1209
      Rap_GAP; Rap/ran-GAP

    3. NM_020336.4 → NP_065069.1  ral GTPase-activating protein subunit beta isoform 1

      See identical proteins and their annotated locations for NP_065069.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AL035419, AL049868
      Consensus CDS
      CCDS13305.1
      UniProtKB/Swiss-Prot
      A2A2E8, A2A2E9, Q5TG31, Q86X10, Q8N3D1, Q8WWC0, Q9H3X8, Q9UJR1, Q9ULK1, Q9Y3G9
      UniProtKB/TrEMBL
      A2A2F0
      Related
      ENSP00000262879.6, ENST00000262879.11
      Conserved Domains (1) summary
      pfam02145
      Location:1178 → 1213
      Rap_GAP; Rap/ran-GAP

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      38472843..38578858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260462.4 → XP_005260519.1  ral GTPase-activating protein subunit beta isoform X1

      UniProtKB/TrEMBL
      A2A2F0
      Conserved Domains (1) summary
      pfam02145
      Location:1190 → 1225
      Rap_GAP; Rap/ran-GAP

    2. XM_047440314.1 → XP_047296270.1  ral GTPase-activating protein subunit beta isoform X2

    3. XM_047440315.1 → XP_047296271.1  ral GTPase-activating protein subunit beta isoform X3

    4. XM_017027966.3 → XP_016883455.1  ral GTPase-activating protein subunit beta isoform X4

      UniProtKB/TrEMBL
      A2A2F0

    5. XM_005260465.4 → XP_005260522.1  ral GTPase-activating protein subunit beta isoform X5

      See identical proteins and their annotated locations for XP_005260522.1

      UniProtKB/TrEMBL
      A2A2F0
      Conserved Domains (1) summary
      pfam02145
      Location:1178 → 1213
      Rap_GAP; Rap/ran-GAP

    6. XM_017027967.3 → XP_016883456.1  ral GTPase-activating protein subunit beta isoform X6

      UniProtKB/TrEMBL
      A2A2F0

    7. XM_047440316.1 → XP_047296272.1  ral GTPase-activating protein subunit beta isoform X8

    8. XM_017027968.3 → XP_016883457.1  ral GTPase-activating protein subunit beta isoform X7

      UniProtKB/TrEMBL
      A2A2F0
      Related
      ENSP00000416646.1, ENST00000438490.2

    9. XM_017027970.3 → XP_016883459.1  ral GTPase-activating protein subunit beta isoform X9

      UniProtKB/TrEMBL
      B3KWL5

    10. XM_047440317.1 → XP_047296273.1  ral GTPase-activating protein subunit beta isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      40202515..40308510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323731.1 → XP_054179706.1  ral GTPase-activating protein subunit beta isoform X1

    2. XM_054323732.1 → XP_054179707.1  ral GTPase-activating protein subunit beta isoform X2

    3. XM_054323733.1 → XP_054179708.1  ral GTPase-activating protein subunit beta isoform X3

    4. XM_054323734.1 → XP_054179709.1  ral GTPase-activating protein subunit beta isoform X4

    5. XM_054323735.1 → XP_054179710.1  ral GTPase-activating protein subunit beta isoform X5

    6. XM_054323736.1 → XP_054179711.1  ral GTPase-activating protein subunit beta isoform X6

    7. XM_054323738.1 → XP_054179713.1  ral GTPase-activating protein subunit beta isoform X8

    8. XM_054323737.1 → XP_054179712.1  ral GTPase-activating protein subunit beta isoform X7

    9. XM_054323739.1 → XP_054179714.1  ral GTPase-activating protein subunit beta isoform X9

    10. XM_054323740.1 → XP_054179715.1  ral GTPase-activating protein subunit beta isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86X10.1 GenPept UniProtKB/Swiss-Prot:Q86X10

    Gene LinkOut

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