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

Gene ID: 253959, updated on 8-Nov-2020

Summary

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
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

Genomic context

See RALGAPA1 in Genome Data Viewer
Location:
14q13.2
Exon count:
49
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (35538356..35809295, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (36007558..36278432, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene keratin 18 pseudogene 6 Neighboring gene VISTA enhancer hs348 Neighboring gene INSM transcriptional repressor 2 Neighboring gene small nucleolar RNA, H/ACA box 101B Neighboring gene QRSL1 pseudogene 3 Neighboring gene nuclear transport factor 2 pseudogene 2 Neighboring gene BRMS1 like transcriptional repressor

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0884, DKFZp566D133, DKFZp667F074

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

General protein information

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)

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_001283043.3NP_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:18392015
    Rap_GAP; Rap/ran-GAP
  2. NM_001283044.3NP_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:18732049
    Rap_GAP; Rap/ran-GAP
  3. NM_001330075.3NP_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/Swiss-Prot
    Q6GYQ0
    UniProtKB/TrEMBL
    A0A1B0GUI1
    Related
    ENSP00000490119.1, ENST00000637992.1
  4. NM_001346243.2NP_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
    Q6GYQ0
  5. NM_001346245.2NP_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_001346246.2NP_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_001346247.2NP_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
    UniProtKB/Swiss-Prot
    Q6GYQ0
  8. NM_001346248.2NP_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/Swiss-Prot
    Q6GYQ0
    UniProtKB/TrEMBL
    A0A1B0GUI1
  9. NM_001346249.2NP_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
    UniProtKB/Swiss-Prot
    Q6GYQ0
  10. NM_014990.3NP_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
    Q6GYQ0
    Related
    ENSP00000374348.3, ENST00000389698.7
    Conserved Domains (1) summary
    pfam02145
    Location:18262002
    Rap_GAP; Rap/ran-GAP
  11. NM_194301.4NP_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:18262002
    Rap_GAP; Rap/ran-GAP

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005267492.4XP_005267549.1  ral GTPase-activating protein subunit alpha-1 isoform X6

    Conserved Domains (1) summary
    pfam02145
    Location:18732049
    Rap_GAP; Rap/ran-GAP
  2. XM_006720099.3XP_006720162.1  ral GTPase-activating protein subunit alpha-1 isoform X2

    Conserved Domains (1) summary
    pfam02145
    Location:23322508
    Rap_GAP; Rap/ran-GAP
  3. XM_006720098.3XP_006720161.1  ral GTPase-activating protein subunit alpha-1 isoform X1

    Conserved Domains (1) summary
    pfam02145
    Location:23322508
    Rap_GAP; Rap/ran-GAP
  4. XM_006720101.3XP_006720164.1  ral GTPase-activating protein subunit alpha-1 isoform X4

    See identical proteins and their annotated locations for XP_006720164.1

    Conserved Domains (1) summary
    pfam02145
    Location:23322508
    Rap_GAP; Rap/ran-GAP
  5. XM_017021147.1XP_016876636.1  ral GTPase-activating protein subunit alpha-1 isoform X11

  6. XM_006720100.4XP_006720163.1  ral GTPase-activating protein subunit alpha-1 isoform X3

    Conserved Domains (1) summary
    pfam02145
    Location:22852461
    Rap_GAP; Rap/ran-GAP
  7. XM_005267498.4XP_005267555.1  ral GTPase-activating protein subunit alpha-1 isoform X12

    Conserved Domains (1) summary
    pfam02145
    Location:10671243
    Rap_GAP; Rap/ran-GAP
  8. XM_024449523.1XP_024305291.1  ral GTPase-activating protein subunit alpha-1 isoform X10

    Conserved Domains (1) summary
    pfam02145
    Location:13161492
    Rap_GAP; Rap/ran-GAP
  9. XM_017021146.1XP_016876635.1  ral GTPase-activating protein subunit alpha-1 isoform X7

  10. XM_011536615.3XP_011534917.1  ral GTPase-activating protein subunit alpha-1 isoform X4

    See identical proteins and their annotated locations for XP_011534917.1

    Conserved Domains (1) summary
    pfam02145
    Location:23322508
    Rap_GAP; Rap/ran-GAP
  11. XM_017021143.2XP_016876632.1  ral GTPase-activating protein subunit alpha-1 isoform X5

  12. XM_011536616.3XP_011534918.1  ral GTPase-activating protein subunit alpha-1 isoform X8

  13. XM_006720104.4XP_006720167.1  ral GTPase-activating protein subunit alpha-1 isoform X9

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