Samd9l sterile alpha motif domain containing 9-like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Samd9lprovided by MGI
Official Full Name: sterile alpha motif domain containing 9-likeprovided by MGI
Primary source: MGI:MGI:1343184
See related: Ensembl:ENSMUSG00000047735 AllianceGenome:MGI:1343184
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: ESTM25; mKIAA2005
Summary: Acts upstream of or within several processes, including common myeloid progenitor cell proliferation; endosomal vesicle fusion; and spleen development. Located in early endosome. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and liver and biliary system. Used to study myelodysplastic syndrome. Human ortholog(s) of this gene implicated in autosomal dominant cerebellar ataxia. Orthologous to human SAMD9L (sterile alpha motif domain containing 9 like). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in kidney adult (RPKM 4.1), bladder adult (RPKM 3.7) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A1; 6 1.76 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (3372257..3399458, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (3372257..3399571, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice.
Title: Mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice.
Inflammation fuels bone marrow exhaustion caused by Samd9l mutation.
Title: Inflammation fuels bone marrow exhaustion caused by Samd9l mutation.
Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.
Title: Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.
Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7.
Title: Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7.
Mouse Samd9l is not a functional paralogue of the human SAMD9.
Title: Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis.
mouse Samd9L revealed near-ubiquitous expression, with the highest level in the kidney, a major organ regulating calcium-phosphate homeostasis and the site of calcitonin hormonal action.
Title: The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development.

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Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Samd9l (e-PCR), detects polymorphism
- UniSTS:547397

AA175286 (e-PCR), detects polymorphism
- UniSTS:143011

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within common myeloid progenitor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endosomal vesicle fusion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spleen development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell division	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sterile alpha motif domain-containing protein 9-like

Names: SAM domain-containing protein 9-like; v-myc myelocytomatosis viral related oncogene, neuroblastoma derived

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_010156.4 → NP_034286.2 sterile alpha motif domain-containing protein 9-like

See identical proteins and their annotated locations for NP_034286.2

Status: VALIDATED

Source sequence(s)

AC022453

Consensus CDS

CCDS51712.1

UniProtKB/Swiss-Prot

Q69Z37

UniProtKB/TrEMBL

E9PX59

Related

ENSMUSP00000112688.2, ENSMUST00000120087.6

Conserved Domains (1) summary

cd09528
Location:12 → 76

SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

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_000072.7 Reference GRCm39 C57BL/6J

Range

3372257..3399458 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006505026.3 → XP_006505089.1 sterile alpha motif domain-containing protein 9-like isoform X1

See identical proteins and their annotated locations for XP_006505089.1

UniProtKB/Swiss-Prot

Q69Z37

UniProtKB/TrEMBL

E9PX59

Conserved Domains (1) summary

cd09528
Location:12 → 76

SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_177590.1: Suppressed sequence

Description

NM_177590.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.