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RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 [ Homo sapiens (human) ]

Gene ID: 9649, updated on 7-Jun-2020

Summary

Official Symbol
RALGPS1provided by HGNC
Official Full Name
Ral GEF with PH domain and SH3 binding motif 1provided by HGNC
Primary source
HGNC:HGNC:16851
See related
Ensembl:ENSG00000136828 MIM:614444
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
RALGEF2; RALGPS1A
Expression
Broad expression in small intestine (RPKM 6.1), duodenum (RPKM 5.9) and 24 other tissues See more
Orthologs

Genomic context

See RALGPS1 in Genome Data Viewer
Location:
9q33.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (126914774..127223166)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (129677053..129985445)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 43 Neighboring gene zinc finger and BTB domain containing 34 Neighboring gene uncharacterized LOC105376279 Neighboring gene angiopoietin like 2 Neighboring gene uncharacterized LOC105376278 Neighboring gene GTPase activating Rap/RanGAP domain like 3 Neighboring gene density regulated re-initiation and release factor pseudogene Neighboring gene uncharacterized LOC112268056 Neighboring gene solute carrier family 2 member 8

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

  • FLJ13401, KIAA0351

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ral guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
guanyl-nucleotide exchange factor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
regulation of Ral protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ras-specific guanine nucleotide-releasing factor RalGPS1
Names
Ral guanine nucleotide exchange factor RalGPS1A
ral guanine nucleotide exchange factor 2
ralA exchange factor RalGPS1

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.

mRNA and Protein(s)

  1. NM_001190728.1NP_001177657.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 3

    See identical proteins and their annotated locations for NP_001177657.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks a portion of the 5' UTR and has multiple differences in the 3' end, compared to variant 1. The resulting protein (isoform 3) has a distinct and shorter C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AF221098, CB162049, DB521440
    Consensus CDS
    CCDS55346.1
    UniProtKB/Swiss-Prot
    Q5JS13
    Related
    ENSP00000362533.1, ENST00000373434.5
    Conserved Domains (3) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:391498
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:390493
    PH; PH domain
  2. NM_001190729.1NP_001177658.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 2

    See identical proteins and their annotated locations for NP_001177658.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different splice in the first exon and has multiple differences in the 3' end, compared to variant 1. The resulting protein (isoform 2) has a distinct and shorter C-terminus when it is compared to isoform 1. Variants 2 and 5 both encode the same isoform (2).
    Source sequence(s)
    AB002349, AK299149, CB162049
    Consensus CDS
    CCDS55345.1
    UniProtKB/Swiss-Prot
    Q5JS13
    Related
    ENSP00000415630.2, ENST00000424082.6
    Conserved Domains (3) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:391506
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:390501
    PH; PH domain
  3. NM_001190730.2NP_001177659.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 4

    See identical proteins and their annotated locations for NP_001177659.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses a different splice in the first exon and has a different segment for its 3' end compared to variant 1. The resulting protein (isoform 4) has a distinct and shorter C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AB002349, BC032372, BY797926, DB332662, DR001330
    Consensus CDS
    CCDS55344.1
    UniProtKB/Swiss-Prot
    Q5JS13
    Related
    ENSP00000362535.1, ENST00000373436.5
    Conserved Domains (1) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  4. NM_001322320.2NP_001309249.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) and variant 2 both encode the same isoform (2).
    Source sequence(s)
    AL160169, AL356862, AL357623, AL450263
    Consensus CDS
    CCDS55345.1
    UniProtKB/Swiss-Prot
    Q5JS13
    Conserved Domains (3) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:391506
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:390501
    PH; PH domain
  5. NM_001322321.2NP_001309250.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL160169, AL356862, AL357623, AL450263
    Conserved Domains (2) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:460575
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
  6. NM_001322322.2NP_001309251.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL160169, AL356862, AL357623, AL450263
    Conserved Domains (2) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:460567
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
  7. NM_001322323.2NP_001309252.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL160169, AL356862, AL357623, AL450263
    Conserved Domains (3) summary
    smart00147
    Location:46258
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:361476
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:360471
    PH; PH domain
  8. NM_001322324.2NP_001309253.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL160169, AL356862, AL357623, AL450263
    Conserved Domains (2) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:390505
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
  9. NM_001322325.2NP_001309254.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AL160169, AL356862, AL357623, AL450263
    Conserved Domains (3) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:461576
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:460571
    PH; PH domain
  10. NM_001366399.1NP_001353328.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AB002349, BC019329
    Related
    ENSP00000377579.3, ENST00000394011.7
    Conserved Domains (1) summary
    cl02485
    Location:4671
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
  11. NM_001366400.1NP_001353329.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL160169, AL356862, AL357623, AL450263
    Conserved Domains (2) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:433548
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
  12. NM_001366401.1NP_001353330.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AL160169, AL356862, AL357623, AL450263
    Conserved Domains (2) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:391506
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
  13. NM_014636.3NP_055451.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 1

    See identical proteins and their annotated locations for NP_055451.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB002349, CN266562
    Consensus CDS
    CCDS35143.1
    UniProtKB/Swiss-Prot
    Q5JS13
    Related
    ENSP00000259351.5, ENST00000259351.10
    Conserved Domains (2) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:433548
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    126914774..127223166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015348.1XP_016870837.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X16

  2. XM_011519235.2XP_011517537.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X6

    See identical proteins and their annotated locations for XP_011517537.1

    Conserved Domains (3) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:515630
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:514625
    PH; PH domain
  3. XM_011519234.2XP_011517536.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X8

    Conserved Domains (3) summary
    smart00147
    Location:46312
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:485600
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:484595
    PH; PH domain
  4. XM_011519230.2XP_011517532.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X6

    See identical proteins and their annotated locations for XP_011517532.1

    Conserved Domains (3) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:515630
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:514625
    PH; PH domain
  5. XM_017015343.1XP_016870832.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X6

    Conserved Domains (3) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:515630
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:514625
    PH; PH domain
  6. XM_006717328.3XP_006717391.2  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X6

    See identical proteins and their annotated locations for XP_006717391.2

    Conserved Domains (3) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:515630
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:514625
    PH; PH domain
  7. XM_011519229.1XP_011517531.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X6

    See identical proteins and their annotated locations for XP_011517531.1

    Conserved Domains (3) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:515630
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:514625
    PH; PH domain
  8. XM_011519228.1XP_011517530.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X4

    Conserved Domains (3) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:515630
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:514625
    PH; PH domain
  9. XM_011519226.1XP_011517528.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X2

    Conserved Domains (3) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:515622
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:514617
    PH; PH domain
  10. XM_011519225.1XP_011517527.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X1

    Conserved Domains (3) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:514629
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:513624
    PH; PH domain
  11. XM_017015342.1XP_016870831.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X5

  12. XM_011519231.1XP_011517533.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X9

    Conserved Domains (3) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:445560
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:444555
    PH; PH domain
  13. XM_017015345.1XP_016870834.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X12

  14. XM_011519232.1XP_011517534.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X10

    Conserved Domains (3) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:444559
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:443554
    PH; PH domain
  15. XM_011519233.1XP_011517535.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X11

    See identical proteins and their annotated locations for XP_011517535.1

    Conserved Domains (2) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:461576
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
  16. XM_017015346.1XP_016870835.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X13

  17. XM_017015344.1XP_016870833.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X7

  18. XM_011519227.1XP_011517529.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X3

    Conserved Domains (3) summary
    smart00147
    Location:38325
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:498613
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:497608
    PH; PH domain
  19. XM_011519238.2XP_011517540.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X18

    Conserved Domains (1) summary
    smart00147
    Location:46342
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  20. XM_017015350.1XP_016870839.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X19

    UniProtKB/Swiss-Prot
    Q5JS13
    Related
    ENSP00000377590.3, ENST00000394022.7
    Conserved Domains (1) summary
    smart00147
    Location:46288
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  21. XM_017015349.1XP_016870838.1  ras-specific guanine nucleotide-releasing factor RalGPS1 isoform X17

    Conserved Domains (3) summary
    cd13310
    Location:374489
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:373484
    PH; PH domain
    cl02485
    Location:1201
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

RNA

  1. XR_001746426.1 RNA Sequence

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