Sash1 SAM and SH3 domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sash1provided by MGI
Official Full Name: SAM and SH3 domain containing 1provided by MGI
Primary source: MGI:MGI:1917347
See related: Ensembl:ENSMUSG00000015305 AllianceGenome:MGI:1917347
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: mKIAA0790; 1100001C18Rik; 2500002E12Rik; A330076K04Rik
Summary: Predicted to enable G-protein alpha-subunit binding activity; mitogen-activated protein kinase kinase kinase binding activity; and molecular adaptor activity. Predicted to be involved in positive regulation of non-canonical NF-kappaB signal transduction and regulation of epithelial cell migration. Predicted to act upstream of or within several processes, including positive regulation of angiogenesis; positive regulation of signal transduction; and regulation of protein modification process. Located in membrane. Human ortholog(s) of this gene implicated in dyschromatosis universalis hereditaria. Orthologous to human SASH1 (SAM and SH3 domain containing 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in lung adult (RPKM 10.4), subcutaneous fat pad adult (RPKM 8.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 A1; 10 2.75 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (8597981..8821290, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (8722217..8945608, complement)

Chromosome 10 - NC_000076.7 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?

endothelial Sash1 regulates alveolar epithelial cell maturation and promotes pulmonary surfactant production through nitric oxide signaling.
Title: Endothelial Sash1 Is Required for Lung Maturation through Nitric Oxide Signaling.
SASH1 acts to assemble a signaling complex downstream of TLR4 to activate early endothelial responses to receptor activation.
Title: SASH1 is a scaffold molecule in endothelial TLR4 signaling.
Not expressed in the investigated haematopoietic cell lines, while transcripts were found in whole splenic B-cells from both wild type and Btk-defective mice.
Title: Differential expression and molecular characterisation of Lmo7, Myo1e, Sash1, and Mcoln2 genes in Btk-defective B-cells.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Gene trapped (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit298 (e-PCR), detects polymorphism
- UniSTS:126202

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G-protein alpha-subunit binding	ISO Inferred from Sequence Orthology more info
enables mitogen-activated protein kinase kinase kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables mitogen-activated protein kinase kinase kinase binding	ISO Inferred from Sequence Orthology more info	PubMed
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info	PubMed
enables protein binding	ISO Inferred from Sequence Orthology more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within positive regulation of JUN kinase activity	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within positive regulation of endothelial cell migration	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within positive regulation of lipopolysaccharide-mediated signaling pathway	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of non-canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within positive regulation of p38MAPK cascade	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within protein polyubiquitination	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of epithelial cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of protein K63-linked ubiquitination	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within regulation of protein autoubiquitination	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: SAM and SH3 domain-containing protein 1

Names: putative adapter and scaffold protein 1

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_175155.4 → NP_780364.3 SAM and SH3 domain-containing protein 1

See identical proteins and their annotated locations for NP_780364.3

Status: VALIDATED

Source sequence(s)

AJ507736, BY770549, CJ125950

Consensus CDS

CCDS23692.1

UniProtKB/Swiss-Prot

P59808

UniProtKB/TrEMBL

F8VQK5

Related

ENSMUSP00000015449.6, ENSMUST00000015449.6

Conserved Domains (5) summary

cd09492
Location:1156 → 1225

SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2

cd09559
Location:627 → 691

SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1

smart00454
Location:1161 → 1224

SAM; Sterile alpha motif

cd11967
Location:550 → 606

SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1

pfam12485
Location:394 → 548

SLY; Lymphocyte signaling adaptor protein

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_000076.7 Reference GRCm39 C57BL/6J

Range

8597981..8821290 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030245256.2 → XP_030101116.1 SAM and SH3 domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

P59808

Conserved Domains (5) summary

cd09492
Location:1280 → 1349

SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2

cd09559
Location:751 → 815

SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1

cd11967
Location:674 → 730

SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1

PHA03307
Location:817 → 1176

PHA03307; transcriptional regulator ICP4; Provisional

pfam12485
Location:521 → 672

SLY; Lymphocyte signaling adaptor protein
XM_006512837.4 → XP_006512900.1 SAM and SH3 domain-containing protein 1 isoform X4

UniProtKB/Swiss-Prot

P59808

Conserved Domains (5) summary

cd09492
Location:1118 → 1187

SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2

cd09559
Location:589 → 653

SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1

cd11967
Location:512 → 568

SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1

PHA03307
Location:655 → 1014

PHA03307; transcriptional regulator ICP4; Provisional

pfam12485
Location:356 → 510

SLY; Lymphocyte signaling adaptor protein
XM_030245255.2 → XP_030101115.1 SAM and SH3 domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

P59808

Conserved Domains (5) summary

cd09492
Location:1318 → 1387

SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2

cd09559
Location:789 → 853

SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1

cd11967
Location:712 → 768

SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1

PHA03307
Location:855 → 1214

PHA03307; transcriptional regulator ICP4; Provisional

pfam12485
Location:559 → 710

SLY; Lymphocyte signaling adaptor protein
XM_036155989.1 → XP_036011882.1 SAM and SH3 domain-containing protein 1 isoform X3

UniProtKB/Swiss-Prot

P59808

Conserved Domains (5) summary

cd09492
Location:1245 → 1314

SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2

cd09559
Location:716 → 780

SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1

cd11967
Location:639 → 695

SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1

PHA03307
Location:782 → 1141

PHA03307; transcriptional regulator ICP4; Provisional

pfam12485
Location:485 → 637

SLY; Lymphocyte signaling adaptor protein
XM_006512840.3 → XP_006512903.1 SAM and SH3 domain-containing protein 1 isoform X8

UniProtKB/TrEMBL

Q6ZQ46

Conserved Domains (5) summary

cd09492
Location:924 → 993

SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2

cd09559
Location:395 → 459

SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1

cd11967
Location:318 → 374

SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1

PHA03307
Location:461 → 820

PHA03307; transcriptional regulator ICP4; Provisional

pfam12485
Location:162 → 316

SLY; Lymphocyte signaling adaptor protein
XM_030245257.1 → XP_030101117.1 SAM and SH3 domain-containing protein 1 isoform X6

UniProtKB/TrEMBL

Q6ZQ46

Conserved Domains (5) summary

cd09492
Location:1086 → 1155

SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2

cd09559
Location:557 → 621

SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1

cd11967
Location:480 → 536

SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1

PHA03307
Location:623 → 982

PHA03307; transcriptional regulator ICP4; Provisional

pfam12485
Location:327 → 478

SLY; Lymphocyte signaling adaptor protein
XM_006512841.3 → XP_006512904.2 SAM and SH3 domain-containing protein 1 isoform X5

UniProtKB/TrEMBL

Q6ZQ46

Conserved Domains (5) summary

cd09492
Location:1098 → 1167

SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2

cd09559
Location:569 → 633

SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1

cd11967
Location:492 → 548

SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1

PHA03307
Location:635 → 994

PHA03307; transcriptional regulator ICP4; Provisional

pfam12485
Location:339 → 490

SLY; Lymphocyte signaling adaptor protein
XM_006512839.5 → XP_006512902.1 SAM and SH3 domain-containing protein 1 isoform X7

UniProtKB/TrEMBL

Q6ZQ46

Conserved Domains (5) summary

cd09492
Location:936 → 1005

SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2

cd09559
Location:407 → 471

SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1

cd11967
Location:330 → 386

SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1

PHA03247
Location:600 → 846

PHA03247; large tegument protein UL36; Provisional

pfam12485
Location:174 → 328

SLY; Lymphocyte signaling adaptor protein
XM_036155990.1 → XP_036011883.1 SAM and SH3 domain-containing protein 1 isoform X9

Conserved Domains (6) summary

PTZ00449
Location:474 → 588

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

cd09492
Location:703 → 772

SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2

cd09559
Location:174 → 238

SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1

cd11967
Location:97 → 153

SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1

PHA03247
Location:367 → 613

PHA03247; large tegument protein UL36; Provisional

pfam12485
Location:1 → 95

SLY; Lymphocyte signaling adaptor protein