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    Rph3a rabphilin 3A [ Mus musculus (house mouse) ]

    Gene ID: 19894, updated on 27-Nov-2024

    Summary

    Official Symbol
    Rph3aprovided by MGI
    Official Full Name
    rabphilin 3Aprovided by MGI
    Primary source
    MGI:MGI:102788
    See related
    Ensembl:ENSMUSG00000029608 AllianceGenome:MGI:102788
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2900002P20Rik
    Summary
    Predicted to enable several functions, including anion binding activity; calcium-dependent phospholipid binding activity; and metal ion binding activity. Involved in synaptic vesicle priming. Acts upstream of or within spontaneous neurotransmitter secretion. Predicted to be located in cytosol; dendritic spine; and secretory vesicle. Predicted to be extrinsic component of membrane. Predicted to be part of protein-containing complex. Predicted to be active in several cellular components, including cholinergic synapse; neuromuscular junction; and postsynaptic membrane. Predicted to be extrinsic component of synaptic vesicle membrane. Predicted to colocalize with Golgi apparatus. Is expressed in hindbrain; medulla oblongata; and midbrain. Orthologous to human RPH3A (rabphilin 3A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 64.9), cortex adult (RPKM 57.6) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Rph3a in Genome Data Viewer
    Location:
    5 F; 5 61.17 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (121078562..121184249, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (120940499..121010116, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene 2'-5' oligoadenylate synthetase 1A Neighboring gene 2'-5' oligoadenylate synthetase 1 pseudogene Neighboring gene 2'-5' oligoadenylate synthetase 1D Neighboring gene predicted gene, 32185 Neighboring gene STARR-positive B cell enhancer ABC_E3611 Neighboring gene protein tyrosine phosphatase, non-receptor type 11 Neighboring gene STARR-positive B cell enhancer ABC_E4783 Neighboring gene STARR-positive B cell enhancer ABC_E6372 Neighboring gene predicted gene, 26205 Neighboring gene ribosomal protein L6

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (3)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium-dependent phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium-dependent phospholipid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables inositol 1,4,5 trisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables inositol 1,4,5 trisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphate ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphate ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-containing complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables selenium binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables selenium binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    colocalizes_with Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cholinergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendritic spine ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extrinsic component of membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extrinsic component of membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in extrinsic component of synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extrinsic component of synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in neuromuscular junction ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in secretory granule ISO
    Inferred from Sequence Orthology
    more info
     
    located_in secretory granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synaptic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    rabphilin-3A
    Names
    Doc2 family
    exophilin-1

    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.

    mRNA and Protein(s)

    1. NM_001302344.2NP_001289273.1  rabphilin-3A isoform 1

      See identical proteins and their annotated locations for NP_001289273.1

      Status: VALIDATED

      Source sequence(s)
      AC015535
      Consensus CDS
      CCDS39246.1
      UniProtKB/Swiss-Prot
      P47708
      UniProtKB/TrEMBL
      Q768S5
      Related
      ENSMUSP00000143917.2, ENSMUST00000202406.4
      Conserved Domains (3) summary
      cd04035
      Location:380503
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:540672
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      cd15762
      Location:88168
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins
    2. NM_001302345.2NP_001289274.1  rabphilin-3A isoform 1

      See identical proteins and their annotated locations for NP_001289274.1

      Status: VALIDATED

      Source sequence(s)
      AC015535
      Consensus CDS
      CCDS39246.1
      UniProtKB/Swiss-Prot
      P47708
      UniProtKB/TrEMBL
      Q768S5
      Related
      ENSMUSP00000144291.2, ENSMUST00000202326.4
      Conserved Domains (3) summary
      cd04035
      Location:380503
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:540672
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      cd15762
      Location:88168
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins
    3. NM_001428998.1NP_001415927.1  rabphilin-3A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC015535
    4. NM_001428999.1NP_001415928.1  rabphilin-3A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC015535
    5. NM_011286.4NP_035416.1  rabphilin-3A isoform 1

      See identical proteins and their annotated locations for NP_035416.1

      Status: VALIDATED

      Source sequence(s)
      AC015535
      Consensus CDS
      CCDS39246.1
      UniProtKB/Swiss-Prot
      P47708
      UniProtKB/TrEMBL
      Q768S5
      Related
      ENSMUSP00000078198.6, ENSMUST00000079204.9
      Conserved Domains (3) summary
      cd04035
      Location:380503
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:540672
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      cd15762
      Location:88168
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      121078562..121184249 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036164929.1XP_036020822.1  rabphilin-3A isoform X1

      UniProtKB/TrEMBL
      Q768S5
      Conserved Domains (4) summary
      cd04035
      Location:383506
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:543675
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      PRK07764
      Location:175352
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15762
      Location:88168
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins
    2. XM_036164928.1XP_036020821.1  rabphilin-3A isoform X1

      UniProtKB/TrEMBL
      Q768S5
      Conserved Domains (4) summary
      cd04035
      Location:383506
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:543675
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      PRK07764
      Location:175352
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15762
      Location:88168
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins
    3. XM_036164927.1XP_036020820.1  rabphilin-3A isoform X1

      UniProtKB/TrEMBL
      Q768S5
      Conserved Domains (4) summary
      cd04035
      Location:383506
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:543675
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      PRK07764
      Location:175352
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15762
      Location:88168
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins
    4. XM_011248186.4XP_011246488.1  rabphilin-3A isoform X1

      See identical proteins and their annotated locations for XP_011246488.1

      UniProtKB/TrEMBL
      Q768S5
      Conserved Domains (4) summary
      cd04035
      Location:383506
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:543675
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      PRK07764
      Location:175352
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15762
      Location:88168
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins
    5. XM_011248188.4XP_011246490.1  rabphilin-3A isoform X2

      Conserved Domains (5) summary
      cd04035
      Location:379502
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:539671
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      PRK07764
      Location:171348
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15762
      Location:84164
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins
      pfam03938
      Location:1783
      OmpH; Outer membrane protein (OmpH-like)
    6. XM_036164931.1XP_036020824.1  rabphilin-3A isoform X3

      Conserved Domains (5) summary
      cd04035
      Location:376499
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:536668
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      PRK07764
      Location:171345
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15762
      Location:84164
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins
      pfam03938
      Location:1783
      OmpH; Outer membrane protein (OmpH-like)
    7. XM_011248185.4XP_011246487.1  rabphilin-3A isoform X1

      See identical proteins and their annotated locations for XP_011246487.1

      UniProtKB/TrEMBL
      Q768S5
      Conserved Domains (4) summary
      cd04035
      Location:383506
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:543675
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      PRK07764
      Location:175352
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15762
      Location:88168
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins
    8. XM_011248187.4XP_011246489.1  rabphilin-3A isoform X1

      See identical proteins and their annotated locations for XP_011246489.1

      UniProtKB/TrEMBL
      Q768S5
      Conserved Domains (4) summary
      cd04035
      Location:383506
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:543675
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      PRK07764
      Location:175352
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15762
      Location:88168
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins
    9. XM_036164930.1XP_036020823.1  rabphilin-3A isoform X1

      UniProtKB/TrEMBL
      Q768S5
      Conserved Domains (4) summary
      cd04035
      Location:383506
      C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
      cd08384
      Location:543675
      C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
      PRK07764
      Location:175352
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd15762
      Location:88168
      FYVE_RP3A; FYVE-related domain found in rabphilin-3A and similar proteins