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    RASAL1 RAS protein activator like 1 [ Homo sapiens (human) ]

    Gene ID: 8437, updated on 10-Dec-2024

    Summary

    Official Symbol
    RASAL1provided by HGNC
    Official Full Name
    RAS protein activator like 1provided by HGNC
    Primary source
    HGNC:HGNC:9873
    See related
    Ensembl:ENSG00000111344 MIM:604118; AllianceGenome:HGNC:9873
    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
    RASAL
    Summary
    The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]
    Expression
    Broad expression in brain (RPKM 6.0), lymph node (RPKM 5.1) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RASAL1 in Genome Data Viewer
    Location:
    12q24.13
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (113099278..113136756, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (113075920..113113399, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113537083..113574044, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113495773-113496561 Neighboring gene ribosomal protein S15a pseudogene 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113503073-113503631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113504873-113505373 Neighboring gene deltex E3 ubiquitin ligase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113535297-113535838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7061 Neighboring gene MPRA-validated peak1969 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113592609-113593108 Neighboring gene MPRA-validated peak1971 silencer Neighboring gene cilia and flagella associated protein 73 Neighboring gene microRNA 7106 Neighboring gene DEAD-box helicase 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:113623217-113623866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113623867-113624517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113624518-113625167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113629297-113629950 Neighboring gene RBPJ interacting and tubulin associated 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phospholipid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Ras protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of dendrite extension IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    rasGAP-activating-like protein 1
    Names
    GAP1 like protein
    ras GTPase-activating-like protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_047089.1 RefSeqGene

      Range
      5479..41962
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193520.2NP_001180449.1  rasGAP-activating-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001180449.1

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Consensus CDS
      CCDS55889.1
      UniProtKB/TrEMBL
      B4DG06
      Related
      ENSP00000450244.1, ENST00000546530.5
      Conserved Domains (4) summary
      cd05135
      Location:263550
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:683710
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:554691
      PH-like; Pleckstrin homology-like domain
    2. NM_001193521.3NP_001180450.1  rasGAP-activating-like protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Consensus CDS
      CCDS55888.1
      UniProtKB/TrEMBL
      B4DG06
      Related
      ENSP00000395920.3, ENST00000446861.7
      Conserved Domains (5) summary
      cd05135
      Location:263549
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      smart00323
      Location:243604
      RasGAP; GTPase-activator protein for Ras-like GTPases
      pfam00779
      Location:653680
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:552661
      PH-like; Pleckstrin homology-like domain
    3. NM_001301202.2NP_001288131.1  rasGAP-activating-like protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Consensus CDS
      CCDS73529.1
      UniProtKB/TrEMBL
      B4DG06
      Related
      ENSP00000448510.1, ENST00000548055.2
      Conserved Domains (4) summary
      cd05135
      Location:263549
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:682709
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:553690
      PH-like; Pleckstrin homology-like domain
    4. NM_001394081.1NP_001381010.1  rasGAP-activating-like protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Consensus CDS
      CCDS55889.1
      UniProtKB/TrEMBL
      B4DG06
      Conserved Domains (4) summary
      cd05135
      Location:263550
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:683710
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:554691
      PH-like; Pleckstrin homology-like domain
    5. NM_001394082.1NP_001381011.1  rasGAP-activating-like protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Consensus CDS
      CCDS73529.1
      UniProtKB/TrEMBL
      B4DG06
      Conserved Domains (4) summary
      cd05135
      Location:263549
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:682709
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:553690
      PH-like; Pleckstrin homology-like domain
    6. NM_001394083.1NP_001381012.1  rasGAP-activating-like protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Consensus CDS
      CCDS73529.1
      UniProtKB/TrEMBL
      B4DG06
      Conserved Domains (4) summary
      cd05135
      Location:263549
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:682709
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:553690
      PH-like; Pleckstrin homology-like domain
    7. NM_001394084.1NP_001381013.1  rasGAP-activating-like protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Consensus CDS
      CCDS73529.1
      UniProtKB/TrEMBL
      B4DG06
      Conserved Domains (4) summary
      cd05135
      Location:263549
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:682709
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:553690
      PH-like; Pleckstrin homology-like domain
    8. NM_001394085.1NP_001381014.1  rasGAP-activating-like protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Consensus CDS
      CCDS9165.1
      UniProtKB/Swiss-Prot
      B7ZKM4, C9JFK5, F8VQX1, O95294, Q52M03, Q59H24, Q96CC7
      UniProtKB/TrEMBL
      B4DG06
      Conserved Domains (4) summary
      cd05135
      Location:263549
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:681708
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:552689
      PH-like; Pleckstrin homology-like domain
    9. NM_001394086.1NP_001381015.1  rasGAP-activating-like protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC089999
      UniProtKB/TrEMBL
      B4DG06
      Conserved Domains (3) summary
      cd05135
      Location:263549
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:553662
      PH-like; Pleckstrin homology-like domain
    10. NM_001394087.1NP_001381016.1  rasGAP-activating-like protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC089999
      UniProtKB/TrEMBL
      B4DG06
      Conserved Domains (3) summary
      cd05135
      Location:199486
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      cl14603
      Location:80191
      C2; C2 domain
      cl17171
      Location:490627
      PH-like; Pleckstrin homology-like domain
    11. NM_001394088.1NP_001381017.1  rasGAP-activating-like protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Conserved Domains (3) summary
      cd05135
      Location:142428
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      cl14603
      Location:7134
      C2; C2 domain
      cl17171
      Location:432569
      PH-like; Pleckstrin homology-like domain
    12. NM_001394089.1NP_001381018.1  rasGAP-activating-like protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Conserved Domains (2) summary
      cd05135
      Location:41327
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      cl17171
      Location:331468
      PH-like; Pleckstrin homology-like domain
    13. NM_004658.3NP_004649.2  rasGAP-activating-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_004649.2

      Status: REVIEWED

      Source sequence(s)
      AC089999
      Consensus CDS
      CCDS9165.1
      UniProtKB/Swiss-Prot
      B7ZKM4, C9JFK5, F8VQX1, O95294, Q52M03, Q59H24, Q96CC7
      UniProtKB/TrEMBL
      B4DG06
      Related
      ENSP00000261729.5, ENST00000261729.9
      Conserved Domains (4) summary
      cd05135
      Location:263549
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:681708
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:552689
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      113099278..113136756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429676.1XP_047285632.1  rasGAP-activating-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DG06
    2. XM_005253950.5XP_005254007.1  rasGAP-activating-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005254007.1

      UniProtKB/TrEMBL
      B4DG06
      Conserved Domains (4) summary
      cd05135
      Location:263550
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:683710
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:554691
      PH-like; Pleckstrin homology-like domain
    3. XM_006719641.4XP_006719704.1  rasGAP-activating-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006719704.1

      UniProtKB/TrEMBL
      B4DG06
      Conserved Domains (4) summary
      cd05135
      Location:263550
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      pfam00779
      Location:683710
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:554691
      PH-like; Pleckstrin homology-like domain
    4. XM_006719642.4XP_006719705.1  rasGAP-activating-like protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DG06
      Conserved Domains (6) summary
      cd05135
      Location:263550
      RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
      smart00323
      Location:243605
      RasGAP; GTPase-activator protein for Ras-like GTPases
      pfam00169
      Location:567673
      PH; PH domain
      pfam00779
      Location:682709
      BTK; BTK motif
      cl14603
      Location:134255
      C2; C2 domain
      cl17171
      Location:553690
      PH-like; Pleckstrin homology-like domain
    5. XM_047429677.1XP_047285633.1  rasGAP-activating-like protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DG06
    6. XM_011538854.3XP_011537156.1  rasGAP-activating-like protein 1 isoform X6

      Conserved Domains (4) summary
      pfam00169
      Location:209315
      PH; PH domain
      pfam00779
      Location:324351
      BTK; BTK motif
      cl02569
      Location:1191
      RasGAP; Ras GTPase Activating Domain
      cl17171
      Location:195332
      PH-like; Pleckstrin homology-like domain
    7. XM_047429679.1XP_047285635.1  rasGAP-activating-like protein 1 isoform X5

      UniProtKB/TrEMBL
      B4DG06
    8. XM_047429678.1XP_047285634.1  rasGAP-activating-like protein 1 isoform X4

      UniProtKB/TrEMBL
      B4DG06

    RNA

    1. XR_007063139.1 RNA Sequence

      Related
      ENST00000418411.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      113075920..113113399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373491.1XP_054229466.1  rasGAP-activating-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DG06
    2. XM_054373489.1XP_054229464.1  rasGAP-activating-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DG06
    3. XM_054373490.1XP_054229465.1  rasGAP-activating-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DG06
    4. XM_054373492.1XP_054229467.1  rasGAP-activating-like protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DG06
    5. XM_054373493.1XP_054229468.1  rasGAP-activating-like protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DG06
    6. XM_054373496.1XP_054229471.1  rasGAP-activating-like protein 1 isoform X6

    7. XM_054373495.1XP_054229470.1  rasGAP-activating-like protein 1 isoform X5

      UniProtKB/TrEMBL
      B4DG06
    8. XM_054373494.1XP_054229469.1  rasGAP-activating-like protein 1 isoform X4

      UniProtKB/TrEMBL
      B4DG06

    RNA

    1. XR_008488702.1 RNA Sequence