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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
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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

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