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    Sh3kbp1 SH3-domain kinase binding protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 58194, updated on 9-Dec-2024

    Summary

    Official Symbol
    Sh3kbp1provided by MGI
    Official Full Name
    SH3-domain kinase binding protein 1provided by MGI
    Primary source
    MGI:MGI:1889583
    See related
    Ensembl:ENSMUSG00000040990 AllianceGenome:MGI:1889583
    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
    Ruk; IN85; Seta; Cin85; 1200007H22Rik; 1700125L08Rik; 5830464D22Rik
    Summary
    Predicted to enable molecular adaptor activity and ubiquitin protein ligase binding activity. Predicted to be involved in several processes, including positive regulation of B cell activation; regulation of cell shape; and ubiquitin-dependent endocytosis. Located in cell-cell junction and endocytic vesicle. Is expressed in cerebral cortex intermediate zone; cortical plate; and embryo. Human ortholog(s) of this gene implicated in immunodeficiency 61. Orthologous to human SH3KBP1 (SH3 domain containing kinase binding protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 11.5), heart adult (RPKM 11.3) and 27 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Sh3kbp1 in Genome Data Viewer
    Location:
    X F4; X 73.65 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (158409888..158758916)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (159626892..159975920)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene Bclaf1 and Thrap3 family member 3 Neighboring gene hepatitis B virus x interacting protein pseudogene Neighboring gene predicted gene 15186 Neighboring gene STARR-positive B cell enhancer mm9_chrX:156088144-156088445 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:156134996-156135149 Neighboring gene STARR-seq mESC enhancer starr_48175 Neighboring gene mitogen-activated protein kinase kinase kinase 15 Neighboring gene cofilin 1, non-muscle pseudogene Neighboring gene predicted gene, 39547 Neighboring gene pyruvate dehydrogenase E1 alpha 1

    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 (1) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of B cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of B cell activation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell shape ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell shape ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ubiquitin-dependent endocytosis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    SH3 domain-containing kinase-binding protein 1
    Names
    Ruk(deltaA) protein
    Ruk(h) protein
    Ruk(l) protein
    Ruk(m1) protein
    Ruk(m3) protein
    Ruk(t) protein
    Ruk(xl) protein
    SH3-containing, expressed in tumorigenic astrocytes
    regulator of ubiquitous kinase

    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_001135727.2NP_001129199.1  SH3 domain-containing kinase-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001129199.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1, also known as Ruk1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI447724, AK028299, AK049182, AK080930, AK142295, BB853873
      Consensus CDS
      CCDS53234.1
      UniProtKB/TrEMBL
      Q3TA88
      Related
      ENSMUSP00000108075.3, ENSMUST00000112456.9
      Conserved Domains (3) summary
      cd12052
      Location:355
      SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
      cd12055
      Location:102154
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:271326
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    2. NM_001135728.2NP_001129200.1  SH3 domain-containing kinase-binding protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001129200.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3, also known as Rukm3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI447724, AK004636, AK028299, AK142295
      Consensus CDS
      CCDS53235.1
      UniProtKB/TrEMBL
      Q3TSX2
      Related
      ENSMUSP00000108070.2, ENSMUST00000112451.8
      Conserved Domains (2) summary
      cd12057
      Location:3388
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
      cl20817
      Location:365416
      GBP_C; Guanylate-binding protein, C-terminal domain
    3. NM_001290661.1NP_001277590.1  SH3 domain-containing kinase-binding protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001277590.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4, also known as Rukh2) lacks multiple coding exons and contains an alternate 5' exon, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus than isoform 1. Variants 4 and 5 encode the same isoform (4).
      Source sequence(s)
      AI447724, AK028299, AK142295, AK161512
      UniProtKB/TrEMBL
      Q3TT90
      Related
      ENSMUST00000128185.8
      Conserved Domains (1) summary
      TIGR01220
      Location:2389
      Pmev_kin_Gr_pos; phosphomevalonate kinase, ERG8-type, Gram-positive branch
    4. NM_001290664.1NP_001277593.1  SH3 domain-containing kinase-binding protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001277593.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5, also known as Rukh4) lacks multiple coding exons and contains an alternate 5' exon, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus than isoform 1. Variants 4 and 5 encode the same isoform (4).
      Source sequence(s)
      AI447724, AK028299, AK052260, AK142295, AK161512
      UniProtKB/TrEMBL
      Q3TT90
      Conserved Domains (1) summary
      TIGR01220
      Location:2389
      Pmev_kin_Gr_pos; phosphomevalonate kinase, ERG8-type, Gram-positive branch
    5. NM_001374701.1NP_001361630.1  SH3 domain-containing kinase-binding protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672284, AL683803, AL929452, BX548017
      UniProtKB/Swiss-Prot
      B1AZ86, B1AZ87, Q8CAL8, Q8CEF6, Q8R545, Q8R546, Q8R547, Q8R548, Q8R549, Q8R550, Q8R551, Q9CTQ9, Q9DC14, Q9JKC3
      Related
      ENSMUSP00000072840.4, ENSMUST00000073094.10
      Conserved Domains (3) summary
      cd12052
      Location:355
      SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
      cd12055
      Location:102154
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:315370
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    6. NM_021389.6NP_067364.2  SH3 domain-containing kinase-binding protein 1 isoform 2

      See identical proteins and their annotated locations for NP_067364.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2, also known as RukdeltaA) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI447724, AK004636, AK028299, AK030839, AK142295
      Consensus CDS
      CCDS41194.1
      UniProtKB/Swiss-Prot
      Q8R550
      UniProtKB/TrEMBL
      Q3TT90
      Related
      ENSMUSP00000079257.7, ENSMUST00000080394.13
      Conserved Domains (2) summary
      cd12055
      Location:65117
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:234289
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa

    RNA

    1. NR_110969.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs at the 5' end, lacks an internal exon, and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI447724, AK028299, AK030839, AK142295
    2. NR_110970.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs at the 5' end and uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI447724, AK028299, AK030839, AK142295, AL929452

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      158409888..158758916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528928.4XP_006528991.1  SH3 domain-containing kinase-binding protein 1 isoform X5

      Conserved Domains (3) summary
      cd12052
      Location:355
      SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
      cd12055
      Location:102154
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:315370
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    2. XM_006528925.4XP_006528988.1  SH3 domain-containing kinase-binding protein 1 isoform X2

      Conserved Domains (3) summary
      cd12052
      Location:355
      SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
      cd12055
      Location:102154
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:296351
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    3. XM_017318584.2XP_017174073.1  SH3 domain-containing kinase-binding protein 1 isoform X7

      Conserved Domains (3) summary
      cd12052
      Location:355
      SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
      cd12055
      Location:102154
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:296351
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    4. XM_036162054.1XP_036017947.1  SH3 domain-containing kinase-binding protein 1 isoform X8

      Conserved Domains (3) summary
      cd12052
      Location:355
      SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
      cd12055
      Location:102154
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:271326
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    5. XM_006528924.5XP_006528987.1  SH3 domain-containing kinase-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006528987.1

      UniProtKB/Swiss-Prot
      B1AZ86, B1AZ87, Q8CAL8, Q8CEF6, Q8R545, Q8R546, Q8R547, Q8R548, Q8R549, Q8R550, Q8R551, Q9CTQ9, Q9DC14, Q9JKC3
      Conserved Domains (3) summary
      cd12052
      Location:355
      SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
      cd12055
      Location:102154
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:315370
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    6. XM_036162053.1XP_036017946.1  SH3 domain-containing kinase-binding protein 1 isoform X3

      Conserved Domains (3) summary
      cd12052
      Location:355
      SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
      cd12055
      Location:102154
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:290345
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    7. XM_030251430.2XP_030107290.1  SH3 domain-containing kinase-binding protein 1 isoform X6

      UniProtKB/TrEMBL
      Q3TA88
      Conserved Domains (3) summary
      cd12052
      Location:355
      SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa
      cd12055
      Location:102154
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:271326
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    8. XM_017318586.3XP_017174075.1  SH3 domain-containing kinase-binding protein 1 isoform X11

      Conserved Domains (1) summary
      cd12057
      Location:173228
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    9. XM_006528929.5XP_006528992.1  SH3 domain-containing kinase-binding protein 1 isoform X9

      Conserved Domains (2) summary
      cd12055
      Location:4395
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:212267
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    10. XM_030251431.2XP_030107291.1  SH3 domain-containing kinase-binding protein 1 isoform X10

      Conserved Domains (2) summary
      cd12055
      Location:65117
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:234289
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    11. XM_006528927.5XP_006528990.1  SH3 domain-containing kinase-binding protein 1 isoform X4

      Conserved Domains (2) summary
      cd12055
      Location:65117
      SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa
      cd12057
      Location:278333
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    12. XM_006528932.3XP_006528995.1  SH3 domain-containing kinase-binding protein 1 isoform X12

      UniProtKB/TrEMBL
      Q3TSX2
      Conserved Domains (1) summary
      cd12057
      Location:3388
      SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
    13. XM_030251433.2XP_030107293.1  SH3 domain-containing kinase-binding protein 1 isoform X15

      UniProtKB/TrEMBL
      Q3TT90
      Conserved Domains (1) summary
      TIGR01220
      Location:2389
      Pmev_kin_Gr_pos; phosphomevalonate kinase, ERG8-type, Gram-positive branch
    14. XM_011247851.3XP_011246153.1  SH3 domain-containing kinase-binding protein 1 isoform X13

      See identical proteins and their annotated locations for XP_011246153.1

      UniProtKB/Swiss-Prot
      Q8R550
    15. XM_030251432.1XP_030107292.1  SH3 domain-containing kinase-binding protein 1 isoform X14

      UniProtKB/TrEMBL
      B0R0Y8
      Related
      ENSMUSP00000117618.2, ENSMUST00000152426.2