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

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, Nov 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 11.5), heart adult (RPKM 11.3) and 27 other tissues See more
Orthologs: human all
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Genomic context

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ADAPTOR PROTEIN Ruk/CIN85REGULATES REDOX BALANCE IN 4T1MOUSE BREAST CANCER CELLS EXPOSED TO PLASMIN(OGEN).
Title: ADAPTOR PROTEIN Ruk/CIN85REGULATES REDOX BALANCE IN 4T1MOUSE BREAST CANCER CELLS EXPOSED TO PLASMIN(OGEN).
Data show that Cbl-interacting protein of 85 kDa (CIN85) limited T cell responses to T cell receptor (TCR) stimulation.
Title: Inhibition of T cell activation and function by the adaptor protein CIN85.
Cin85-deficient mother mice had reduced pituitary hormone prolactin secretion as a result of excessive dopamine signaling in the brain. Their offspring matured normally and produced their own pups; however, nurturing behaviors such as pup retrieval and nursing were strongly inhibited.
Title: Maternal prolactin during late pregnancy is important in generating nurturing behavior in the offspring.
competitive analytical gel-filtration chromatography and isothermal titration calorimetry (ITC) results showed that ARAP1 could compete with Cbl for CIN85 binding, which provides a biochemical basis for the regulatory roles of ARAP1 in the CIN85-mediated EGFR internalizing process.
Title: Biochemical and Structural Studies of the Interaction between ARAP1 and CIN85.
CIN85/RukL is involved in endocytosis of nephrin in podocytes under diabetic conditions, causing podocyte depletion and promoting proteinuria. CIN85/RukL expression therefore shows potential to be a novel target for antiproteinuric therapy in diabetes.
Title: CIN85 Deficiency Prevents Nephrin Endocytosis and Proteinuria in Diabetes.
Dab1 mediated the association of CIN85 with ApoER2 or VLDLR in neurons.
Title: Dab1-mediated colocalization of multi-adaptor protein CIN85 with Reelin receptors, ApoER2 and VLDLR, in neurons.
Data suggest that Ser587 Cin85 phosphomimetic mutant protein shows dramatically reduced binding to Dab1 (disabled protein 1) (without affecting binding to CapZ).
Title: Dab1 stabilizes its interaction with Cin85 by suppressing Cin85 phosphorylation at serine 587.
Sh3kbp1 is SUMOylated by SUMO-1, -2, and -3 and that SUMOylation is enhanced in the presence of Cd2ap.
Title: CD2AP regulates SUMOylation of CIN85 in podocytes.
the interaction between SHIP-1 and CIN85 might synergistically facilitate the down-regulation of phosphatidylinositol-3,4,5-trisphosphate levels.
Title: CIN85 interacting proteins in B cells-specific role for SHIP-1.
Live cell imaging and co-immunoprecipitation experiments confirmed that both SLP65 and CIN85 are both required for the onset and progression phases of B-cell antigen receptor signal transduction.
Title: The B-cell antigen receptor signals through a preformed transducer module of SLP65 and CIN85.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXMit28 (e-PCR), detects polymorphism
- UniSTS:132135

AW530792 (e-PCR)
- UniSTS:244559

AI447724 (e-PCR)
- UniSTS:181346

DXMit99 (e-PCR), detects polymorphism
- UniSTS:132206

Seta (e-PCR), detects polymorphism
- UniSTS:181875

Seta (e-PCR), detects polymorphism
- UniSTS:181876

px-72b5 (e-PCR)
- UniSTS:258171

px-55g1 (e-PCR)
- UniSTS:257920

px-60f7 (e-PCR)
- UniSTS:258435

21.MMHAP9FLG3.seq (e-PCR)
- UniSTS:123547

px-58c4 (e-PCR)
- UniSTS:257964

DXMit189 (e-PCR), detects polymorphism
- UniSTS:132081

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

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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)

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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)

NM_001135727.2 → NP_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:3 → 55

SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa

cd12055
Location:102 → 154

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:271 → 326

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
NM_001135728.2 → NP_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:33 → 88

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa

cl20817
Location:365 → 416

GBP_C; Guanylate-binding protein, C-terminal domain
NM_001290661.1 → NP_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:23 → 89

Pmev_kin_Gr_pos; phosphomevalonate kinase, ERG8-type, Gram-positive branch
NM_001290664.1 → NP_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:23 → 89

Pmev_kin_Gr_pos; phosphomevalonate kinase, ERG8-type, Gram-positive branch
NM_001374701.1 → NP_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:3 → 55

SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa

cd12055
Location:102 → 154

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:315 → 370

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
NM_021389.6 → NP_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:65 → 117

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:234 → 289

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa

RNA

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
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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

158409888..158758916

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (3) summary

cd12052
Location:3 → 55

SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa

cd12055
Location:102 → 154

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:315 → 370

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_006528925.4 → XP_006528988.1 SH3 domain-containing kinase-binding protein 1 isoform X2

Conserved Domains (3) summary

cd12052
Location:3 → 55

SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa

cd12055
Location:102 → 154

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:296 → 351

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_017318584.2 → XP_017174073.1 SH3 domain-containing kinase-binding protein 1 isoform X7

Conserved Domains (3) summary

cd12052
Location:3 → 55

SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa

cd12055
Location:102 → 154

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:296 → 351

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_036162054.1 → XP_036017947.1 SH3 domain-containing kinase-binding protein 1 isoform X8

Conserved Domains (3) summary

cd12052
Location:3 → 55

SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa

cd12055
Location:102 → 154

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:271 → 326

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_006528924.5 → XP_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:3 → 55

SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa

cd12055
Location:102 → 154

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:315 → 370

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_036162053.1 → XP_036017946.1 SH3 domain-containing kinase-binding protein 1 isoform X3

Conserved Domains (3) summary

cd12052
Location:3 → 55

SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa

cd12055
Location:102 → 154

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:290 → 345

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_030251430.2 → XP_030107290.1 SH3 domain-containing kinase-binding protein 1 isoform X6

UniProtKB/TrEMBL

Q3TA88

Conserved Domains (3) summary

cd12052
Location:3 → 55

SH3_CIN85_1; First Src Homology 3 domain (SH3A) of Cbl-interacting protein of 85 kDa

cd12055
Location:102 → 154

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:271 → 326

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_017318586.3 → XP_017174075.1 SH3 domain-containing kinase-binding protein 1 isoform X11

Conserved Domains (1) summary

cd12057
Location:173 → 228

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_006528929.5 → XP_006528992.1 SH3 domain-containing kinase-binding protein 1 isoform X9

Conserved Domains (2) summary

cd12055
Location:43 → 95

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:212 → 267

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_030251431.2 → XP_030107291.1 SH3 domain-containing kinase-binding protein 1 isoform X10

Conserved Domains (2) summary

cd12055
Location:65 → 117

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:234 → 289

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_006528927.5 → XP_006528990.1 SH3 domain-containing kinase-binding protein 1 isoform X4

Conserved Domains (2) summary

cd12055
Location:65 → 117

SH3_CIN85_2; Second Src Homology 3 domain (SH3B) of Cbl-interacting protein of 85 kDa

cd12057
Location:278 → 333

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_006528932.3 → XP_006528995.1 SH3 domain-containing kinase-binding protein 1 isoform X12

UniProtKB/TrEMBL

Q3TSX2

Conserved Domains (1) summary

cd12057
Location:33 → 88

SH3_CIN85_3; Third Src Homology 3 domain (SH3C) of Cbl-interacting protein of 85 kDa
XM_030251433.2 → XP_030107293.1 SH3 domain-containing kinase-binding protein 1 isoform X15

UniProtKB/TrEMBL

Q3TT90

Conserved Domains (1) summary

TIGR01220
Location:23 → 89

Pmev_kin_Gr_pos; phosphomevalonate kinase, ERG8-type, Gram-positive branch
XM_011247851.3 → XP_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
XM_030251432.1 → XP_030107292.1 SH3 domain-containing kinase-binding protein 1 isoform X14

UniProtKB/TrEMBL

B0R0Y8

Related

ENSMUSP00000117618.2, ENSMUST00000152426.2