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

Gene ID: 19894, updated on 6-Jun-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. Acts upstream of or within spontaneous neurotransmitter secretion. Predicted to be located in several cellular components, including dendritic spine; postsynaptic membrane; and secretory vesicle. Predicted to be extrinsic component of membrane. Predicted to be part of protein-containing complex. 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, Apr 2022]
Expression
Biased expression in cerebellum adult (RPKM 64.9), cortex adult (RPKM 57.6) and 4 other tissues See more
Orthologs
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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-dependent phospholipid binding ISO
Inferred from Sequence Orthology
more info
 
enables inositol 1,4,5 trisphosphate binding ISO
Inferred from Sequence Orthology
more info
 
enables lipid binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphate ion binding ISO
Inferred from Sequence Orthology
more info
 
enables phosphatidylinositol-4,5-bisphosphate binding ISO
Inferred from Sequence Orthology
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 selenium binding ISO
Inferred from Sequence Orthology
more info
 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
 
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in dendritic spine organization ISO
Inferred from Sequence Orthology
more info
 
involved_in exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of calcium ion-dependent exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in spontaneous neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within spontaneous neurotransmitter secretion IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in synaptic vesicle priming IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synaptic vesicle priming IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in cholinergic synapse ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle 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
 
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
 
located_in membrane IEA
Inferred from Electronic Annotation
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 plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
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
 
located_in secretory granule ISO
Inferred from Sequence Orthology
more info
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
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
 

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
    UniProtKB/TrEMBL
    Q768S5
  4. NM_001428999.1NP_001415928.1  rabphilin-3A isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC015535
    UniProtKB/TrEMBL
    Q768S5
  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