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

Gene ID: 57148, updated on 2-Mar-2021

Summary

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
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
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

See RALGAPB in Genome Data Viewer
Location:
20q11.23
Exon count:
33
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (38472820..38578861)
105.20201022 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 microRNA 548o-2 Neighboring gene ribosomal protein S3 pseudogene 2 Neighboring gene adipogenin Neighboring gene Rho GTPase activating protein 40 Neighboring gene GINS complex subunit 2 (Psf2 homolog) pseudogene

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

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

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

General protein information

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_001282917.2NP_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
    Q86X10
    UniProtKB/TrEMBL
    Q6MZJ2
    Related
    ENSP00000380233.1, ENST00000397040.5
    Conserved Domains (1) summary
    pfam02145
    Location:11781213
    Rap_GAP; Rap/ran-GAP
  2. NM_001282918.2NP_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/Swiss-Prot
    Q86X10
    UniProtKB/TrEMBL
    Q6MZJ2
    Related
    ENSP00000380235.3, ENST00000397042.7
    Conserved Domains (1) summary
    pfam02145
    Location:11741209
    Rap_GAP; Rap/ran-GAP
  3. NM_020336.4NP_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
    Q86X10
    UniProtKB/TrEMBL
    Q6MZJ2
    Related
    ENSP00000262879.6, ENST00000262879.11
    Conserved Domains (1) summary
    pfam02145
    Location:11781213
    Rap_GAP; Rap/ran-GAP

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    38472820..38578861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260462.3XP_005260519.1  ral GTPase-activating protein subunit beta isoform X1

    Conserved Domains (1) summary
    pfam02145
    Location:11901225
    Rap_GAP; Rap/ran-GAP
  2. XM_005260463.3XP_005260520.1  ral GTPase-activating protein subunit beta isoform X2

    Conserved Domains (1) summary
    pfam02145
    Location:11901225
    Rap_GAP; Rap/ran-GAP
  3. XM_005260464.3XP_005260521.1  ral GTPase-activating protein subunit beta isoform X3

    Conserved Domains (1) summary
    pfam02145
    Location:11861221
    Rap_GAP; Rap/ran-GAP
  4. XM_017027966.2XP_016883455.1  ral GTPase-activating protein subunit beta isoform X4

  5. XM_005260465.3XP_005260522.1  ral GTPase-activating protein subunit beta isoform X5

    See identical proteins and their annotated locations for XP_005260522.1

    Conserved Domains (1) summary
    pfam02145
    Location:11781213
    Rap_GAP; Rap/ran-GAP
  6. XM_017027967.2XP_016883456.1  ral GTPase-activating protein subunit beta isoform X6

  7. XM_017027969.2XP_016883458.1  ral GTPase-activating protein subunit beta isoform X8

  8. XM_017027968.2XP_016883457.1  ral GTPase-activating protein subunit beta isoform X7

    Related
    ENSP00000416646.1, ENST00000438490.2
  9. XM_017027970.2XP_016883459.1  ral GTPase-activating protein subunit beta isoform X9

RNA

  1. XR_001754350.2 RNA Sequence

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