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    RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 [ Homo sapiens (human) ]

    Gene ID: 253959, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RALGAPA1provided by HGNC
    Official Full Name
    Ral GTPase activating protein catalytic subunit alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:17770
    See related
    Ensembl:ENSG00000174373 MIM:608884; AllianceGenome:HGNC:17770
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p240; GRIPE; GARNL1; TULIP1; NEDHRIT; RalGAPalpha1
    Summary
    This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in brain (RPKM 5.4), thyroid (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q13.2
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (35538356..35809295, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (29726082..29997030, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (36007562..36278501, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36002164-36002988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:36002989-36003812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:36003813-36004636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:36004637-36005459 Neighboring gene keratin 18 pseudogene 6 Neighboring gene VISTA enhancer hs348 Neighboring gene INSM transcriptional repressor 2 Neighboring gene uncharacterized LOC124900348 Neighboring gene small nucleolar RNA, H/ACA box 101B Neighboring gene small nucleolar RNA U13 Neighboring gene QRSL1 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:36278151-36278711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36288541-36289042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5681 Neighboring gene nuclear transport factor 2 pseudogene 2 Neighboring gene BRMS1 like transcriptional repressor

    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. Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. Wagner M, et al. Am J Hum Genet, 2020 Feb 6. PMID 32004447, Free PMC Article
    2. GARNL1, a major RalGAP α subunit in skeletal muscle, regulates insulin-stimulated RalA activation and GLUT4 trafficking via interaction with 14-3-3 proteins. Chen Q, et al. Cell Signal, 2014 Aug. PMID 24768767
    3. TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Shimojima K, et al. Genomics, 2009 Dec. PMID 19733229
    4. Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue. Schwarzbraun T, et al. Genomics, 2004 Sep. PMID 15498464
    5. Tuberous sclerosis tumor suppressor complex-like complexes act as GTPase-activating proteins for Ral GTPases. Shirakawa R, et al. J Biol Chem, 2009 Aug 7. PMID 19520869, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Toxoplasma gondii mitochondrial association factor 1b interactome reveals novel binding partners including Ral GTPase accelerating protein alpha1.
      Title: Toxoplasma gondii mitochondrial association factor 1b interactome reveals novel binding partners including Ral GTPase accelerating protein α1.
    2. Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
      Title: Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
    3. GARNL1/RalGAPalpha1 is amajor RalGAPalphasubunit in skeletal muscle, and is regulated by protein phosphorylation and 14-3-3 binding upon stimulation with insulin or muscle contraction.
      Title: GARNL1, a major RalGAP α subunit in skeletal muscle, regulates insulin-stimulated RalA activation and GLUT4 trafficking via interaction with 14-3-3 proteins.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Reduced TULIP1 was found in lymphocytes from a developmentally delayed epileptic patient with a microdeletion of 14q13.1q13.3 and in cell lysates from other patients with a missense P297 mutation.
      Title: TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.
    6. RanGAP1 remains associated with RanBP2/Nup358 and the SUMO E2-conjugating enzyme Ubc9 in mitosis.
      Title: RanGAP1*SUMO1 is phosphorylated at the onset of mitosis and remains associated with RanBP2 upon NPC disassembly.
    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

    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

    • KIAA0884, DKFZp566D133, DKFZp667F074

    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 heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ral GTPase-activating protein subunit alpha-1
    Names
    GAP-related interacting protein to E12
    GTPase activating Rap/RanGAP domain-like 1
    Ral GTPase activating protein catalytic alpha subunit 1
    Ral GTPase activating protein, alpha subunit 1 (catalytic)
    tuberin-like protein 1

    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.

    Genomic

    1. NG_051667.1 RefSeqGene

      Range
      5029..275968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001283043.3 → NP_001269972.1  ral GTPase-activating protein subunit alpha-1 isoform 3

      See identical proteins and their annotated locations for NP_001269972.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
      Source sequence(s)
      AL162311, AY596970, BC150596
      Consensus CDS
      CCDS61439.1
      UniProtKB/Swiss-Prot
      Q6GYQ0
      Related
      ENSP00000371803.3, ENST00000382366.7
      Conserved Domains (1) summary
      pfam02145
      Location:1839 → 2015
      Rap_GAP; Rap/ran-GAP

    2. NM_001283044.3 → NP_001269973.1  ral GTPase-activating protein subunit alpha-1 isoform 4

      See identical proteins and their annotated locations for NP_001269973.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is longer than isoform 1. Variants 4 and 7 encode the same isoform (4). Isoforms 2 and 4 are the same length, but have distinct protein sequences.
      Source sequence(s)
      AB511280, AL137818, AL162311, AY596970, BC042045, BC150596
      Consensus CDS
      CCDS61440.1
      UniProtKB/Swiss-Prot
      Q6GYQ0
      Related
      ENSP00000451877.1, ENST00000553892.2
      Conserved Domains (1) summary
      pfam02145
      Location:1873 → 2049
      Rap_GAP; Rap/ran-GAP

    3. NM_001330075.3 → NP_001317004.1  ral GTPase-activating protein subunit alpha-1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (5) is longer than isoform 1. Variants 5 and 10 encode the same isoform
      Source sequence(s)
      AL137818, AL160231, AL162311, AY596970
      Consensus CDS
      CCDS81797.1
      UniProtKB/TrEMBL
      A0A1B0GUI1
      Related
      ENSP00000490119.1, ENST00000637992.1

    4. NM_001346243.2 → NP_001333172.1  ral GTPase-activating protein subunit alpha-1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 3' UTR compared to variant 1. Variants 1 and 6 encode the same isoform (1)
      Source sequence(s)
      AL137818, AL160231, AL162311, AY596970
      Consensus CDS
      CCDS32065.1
      UniProtKB/Swiss-Prot
      A6NMA4, B9EK38, C5NU19, O94960, Q6GYP9, Q6GYQ0, Q6ZT23, Q86YF3, Q86YF5, Q8ND69

    5. NM_001346245.2 → NP_001333174.1  ral GTPase-activating protein subunit alpha-1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 3' UTR and contains an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is longer than isoform 1. Variants 4 and 7 encode the same isoform (4). Isoforms 2 and 4 are the same length, but have distinct protein sequences.
      Source sequence(s)
      AL137818, AL160231, AL162311, AY596970
      Consensus CDS
      CCDS61440.1
      UniProtKB/Swiss-Prot
      Q6GYQ0

    6. NM_001346246.2 → NP_001333175.1  ral GTPase-activating protein subunit alpha-1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 3' structure, which results in a frameshift, compared to variant 1. The encoded isoform (6) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL137818, AL160231, AL162311, AY596970
      UniProtKB/Swiss-Prot
      Q6GYQ0

    7. NM_001346247.2 → NP_001333176.1  ral GTPase-activating protein subunit alpha-1 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has multiple differences compared to variant 1. These differences result in a novel 3' UTR and 3' coding region compared to variant 1. The encoded isoform (7) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL137818, AL160231, AL162311, AY596970
      Consensus CDS
      CCDS91865.1
      UniProtKB/TrEMBL
      H0YJB5
      Related
      ENSP00000451133.2, ENST00000554259.6

    8. NM_001346248.2 → NP_001333177.1  ral GTPase-activating protein subunit alpha-1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 3' UTR, and uses an alternate splice site in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (5) is longer than isoform 1. Variants 5 and 10 encode the same isoform.
      Source sequence(s)
      AL137818, AL160231, AL162311, AY596970
      Consensus CDS
      CCDS81797.1
      UniProtKB/TrEMBL
      A0A1B0GUI1

    9. NM_001346249.2 → NP_001333178.1  ral GTPase-activating protein subunit alpha-1 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) contains an alternate exon in the coding region, and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (8) is longer than isoform 1.
      Source sequence(s)
      AL137818, AL160231, AL162311, AY596970
      Consensus CDS
      CCDS91864.1
      UniProtKB/TrEMBL
      A0A7P0TAR5
      Related
      ENSP00000506280.1, ENST00000680220.1

    10. NM_014990.3 → NP_055805.1  ral GTPase-activating protein subunit alpha-1 isoform 1

      See identical proteins and their annotated locations for NP_055805.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shortest isoform (1). Variants 1 and 6 encode the same isoform.
      Source sequence(s)
      AL162311, AY596970
      Consensus CDS
      CCDS32065.1
      UniProtKB/Swiss-Prot
      A6NMA4, B9EK38, C5NU19, O94960, Q6GYP9, Q6GYQ0, Q6ZT23, Q86YF3, Q86YF5, Q8ND69
      Related
      ENSP00000374348.3, ENST00000389698.7
      Conserved Domains (1) summary
      pfam02145
      Location:1826 → 2002
      Rap_GAP; Rap/ran-GAP

    11. NM_194301.4 → NP_919277.2  ral GTPase-activating protein subunit alpha-1 isoform 2

      See identical proteins and their annotated locations for NP_919277.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 1. Isoforms 2 and 4 are the same length, but have distinct protein sequences.
      Source sequence(s)
      AL162311, AY596971
      Consensus CDS
      CCDS32064.1
      UniProtKB/Swiss-Prot
      Q6GYQ0
      Related
      ENSP00000302647.6, ENST00000307138.10
      Conserved Domains (1) summary
      pfam02145
      Location:1826 → 2002
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      35538356..35809295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431182.1 → XP_047287138.1  ral GTPase-activating protein subunit alpha-1 isoform X4

    2. XM_006720100.5 → XP_006720163.1  ral GTPase-activating protein subunit alpha-1 isoform X3

      Conserved Domains (1) summary
      pfam02145
      Location:2285 → 2461
      Rap_GAP; Rap/ran-GAP

    3. XM_005267492.5 → XP_005267549.1  ral GTPase-activating protein subunit alpha-1 isoform X7

      Conserved Domains (1) summary
      pfam02145
      Location:1873 → 2049
      Rap_GAP; Rap/ran-GAP

    4. XM_006720099.4 → XP_006720162.1  ral GTPase-activating protein subunit alpha-1 isoform X2

      Conserved Domains (1) summary
      pfam02145
      Location:2332 → 2508
      Rap_GAP; Rap/ran-GAP

    5. XM_006720098.4 → XP_006720161.1  ral GTPase-activating protein subunit alpha-1 isoform X1

      Conserved Domains (1) summary
      pfam02145
      Location:2332 → 2508
      Rap_GAP; Rap/ran-GAP

    6. XM_006720101.4 → XP_006720164.1  ral GTPase-activating protein subunit alpha-1 isoform X5

      See identical proteins and their annotated locations for XP_006720164.1

      UniProtKB/TrEMBL
      A0A7P0TAR5
      Conserved Domains (1) summary
      pfam02145
      Location:2332 → 2508
      Rap_GAP; Rap/ran-GAP

    7. XM_017021146.2 → XP_016876635.1  ral GTPase-activating protein subunit alpha-1 isoform X8

    8. XM_024449523.2 → XP_024305291.1  ral GTPase-activating protein subunit alpha-1 isoform X10

      Conserved Domains (1) summary
      pfam02145
      Location:1316 → 1492
      Rap_GAP; Rap/ran-GAP

    9. XM_005267498.5 → XP_005267555.1  ral GTPase-activating protein subunit alpha-1 isoform X11

      Conserved Domains (1) summary
      pfam02145
      Location:1067 → 1243
      Rap_GAP; Rap/ran-GAP

    10. XM_011536615.4 → XP_011534917.1  ral GTPase-activating protein subunit alpha-1 isoform X5

      See identical proteins and their annotated locations for XP_011534917.1

      UniProtKB/TrEMBL
      A0A7P0TAR5
      Conserved Domains (1) summary
      pfam02145
      Location:2332 → 2508
      Rap_GAP; Rap/ran-GAP

    11. XM_017021143.3 → XP_016876632.1  ral GTPase-activating protein subunit alpha-1 isoform X6

    12. XM_006720104.5 → XP_006720167.1  ral GTPase-activating protein subunit alpha-1 isoform X9

    RNA

    1. XR_007063998.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      29726082..29997030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375740.1 → XP_054231715.1  ral GTPase-activating protein subunit alpha-1 isoform X4

    2. XM_054375739.1 → XP_054231714.1  ral GTPase-activating protein subunit alpha-1 isoform X3

    3. XM_054375745.1 → XP_054231720.1  ral GTPase-activating protein subunit alpha-1 isoform X7

    4. XM_054375738.1 → XP_054231713.1  ral GTPase-activating protein subunit alpha-1 isoform X2

    5. XM_054375737.1 → XP_054231712.1  ral GTPase-activating protein subunit alpha-1 isoform X1

    6. XM_054375742.1 → XP_054231717.1  ral GTPase-activating protein subunit alpha-1 isoform X5

      UniProtKB/TrEMBL
      A0A7P0TAR5

    7. XM_054375744.1 → XP_054231719.1  ral GTPase-activating protein subunit alpha-1 isoform X12

    8. XM_054375746.1 → XP_054231721.1  ral GTPase-activating protein subunit alpha-1 isoform X8

    9. XM_054375748.1 → XP_054231723.1  ral GTPase-activating protein subunit alpha-1 isoform X10

    10. XM_054375749.1 → XP_054231724.1  ral GTPase-activating protein subunit alpha-1 isoform X11

    11. XM_054375741.1 → XP_054231716.1  ral GTPase-activating protein subunit alpha-1 isoform X5

      UniProtKB/TrEMBL
      A0A7P0TAR5

    12. XM_054375743.1 → XP_054231718.1  ral GTPase-activating protein subunit alpha-1 isoform X6

    13. XM_054375747.1 → XP_054231722.1  ral GTPase-activating protein subunit alpha-1 isoform X9

    RNA

    1. XR_008488847.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6GYQ0.1 GenPept UniProtKB/Swiss-Prot:Q6GYQ0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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