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SAMD9L sterile alpha motif domain containing 9 like [ Homo sapiens (human) ]

Gene ID: 219285, updated on 31-Mar-2024

Summary

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Official Symbol
SAMD9Lprovided by HGNC
Official Full Name
sterile alpha motif domain containing 9 likeprovided by HGNC
Primary source
HGNC:HGNC:1349
See related
Ensembl:ENSG00000177409 MIM:611170; AllianceGenome:HGNC:1349
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UEF1; ATXPC; DEL7q; DRIF2; MLSM7; SCA49; C7DELq; C7orf6; M7MLS1
Summary
This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]
Expression
Broad expression in spleen (RPKM 19.4), appendix (RPKM 14.5) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
7q21.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (93130056..93148385, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (94372089..94390420, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92759369..92777698, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 7, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr7.3172 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:92651586-92652785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92657799-92658383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92668331-92668846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92669879-92670393 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:92673175-92673906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26278 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:92737283-92738482 Neighboring gene sterile alpha motif domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26280 Neighboring gene HEPACAM family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92890341-92890842 Neighboring gene VPS50 subunit of EARP/GARPII complex

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Functional Study of SAMD9L in Familial Gastric Cancer. Kaixuan X, et al. Turk J Gastroenterol, 2023 May. PMID 37158533, Free PMC Article
  2. Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy. Eggermann K, et al. Genes (Basel), 2022 Dec 14. PMID 36553623, Free PMC Article
  3. SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression. Russell AJ, et al. Proc Natl Acad Sci U S A, 2021 Aug 24. PMID 34417303, Free PMC Article
  4. Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis. Kim JJ, et al. Pharmacogenomics J, 2020 Feb. PMID 30971808
  5. A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia. Cheah JJC, et al. Haematologica, 2019 Jul. PMID 30923096, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L.
    Title: PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L.
  2. [Pancytopenia in children caused by SAMD9/9L mutation: 5 cases report and literature review].
    Title: [Pancytopenia in children caused by SAMD9/9L mutation: 5 cases report and literature review].
  3. Functional Study of SAMD9L in Familial Gastric Cancer.
    Title: Functional Study of SAMD9L in Familial Gastric Cancer.
  4. Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.
    Title: Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.
  5. Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy.
    Title: Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy.
  6. Up-regulated SAMD9L modulated by TLR2 and HIF-1alpha as a promising biomarker in tuberculosis.
    Title: Up-regulated SAMD9L modulated by TLR2 and HIF-1α as a promising biomarker in tuberculosis.
  7. SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.
    Title: SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.
  8. Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.
    Title: Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.
  9. Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
    Title: Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
  10. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
    Title: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Ataxia-pancytopenia syndrome
MedGen: C1327919 OMIM: 159550 GeneReviews: SAMD9L Ataxia-Pancytopenia Syndrome
Compare labs
Monosomy 7 myelodysplasia and leukemia syndrome 1
MedGen: C1854978 OMIM: 252270 GeneReviews: Not available
Compare labs
Spinocerebellar ataxia 49
MedGen: C5676950 OMIM: 619806 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: SAMD9

Homology

Clone Names

  • FLJ39885, KIAA2005

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in early endosome IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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

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.

Genomic

  1. NG_053186.1 RefSeqGene

    Range
    5017..23346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303496.3 → NP_001290425.1  sterile alpha motif domain-containing protein 9-like

    See identical proteins and their annotated locations for NP_001290425.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AB095926, AC000119, AY195585, BC127117
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    A0JP23, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IVG5, Q8IWI4, Q8N3L9, Q8N875
    Related
    ENSP00000410062.2, ENST00000446033.2
    Conserved Domains (1) summary
    cd09528
    Location:12 → 76
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

  2. NM_001303497.3 → NP_001290426.1  sterile alpha motif domain-containing protein 9-like

    See identical proteins and their annotated locations for NP_001290426.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate splice structure in the 5' UTR compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AB095926, AC000119, AY195584, BC127117
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    A0JP23, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IVG5, Q8IWI4, Q8N3L9, Q8N875
    Related
    ENSP00000408796.1, ENST00000437805.5
    Conserved Domains (1) summary
    cd09528
    Location:12 → 76
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

  3. NM_001303498.3 → NP_001290427.1  sterile alpha motif domain-containing protein 9-like

    See identical proteins and their annotated locations for NP_001290427.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon and contains an alternate splice structure in the 5' UTR, compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AB095926, AC000119, BC127117, DQ068177
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    A0JP23, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IVG5, Q8IWI4, Q8N3L9, Q8N875
    Related
    ENSP00000391699.2, ENST00000446959.6
    Conserved Domains (1) summary
    cd09528
    Location:12 → 76
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

  4. NM_001303500.3 → NP_001290429.1  sterile alpha motif domain-containing protein 9-like

    See identical proteins and their annotated locations for NP_001290429.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon and uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AB095926, AC000119, AY195582, BC127117
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    A0JP23, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IVG5, Q8IWI4, Q8N3L9, Q8N875
    Related
    ENSP00000391387.2, ENST00000439952.6
    Conserved Domains (1) summary
    cd09528
    Location:12 → 76
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

  5. NM_001350082.2 → NP_001337011.1  sterile alpha motif domain-containing protein 9-like

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate splice structure in the 5' UTR compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AC000119
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    A0JP23, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IVG5, Q8IWI4, Q8N3L9, Q8N875
    Conserved Domains (1) summary
    cd09528
    Location:12 → 76
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

  6. NM_001350083.2 → NP_001337012.1  sterile alpha motif domain-containing protein 9-like

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AC000119
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    A0JP23, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IVG5, Q8IWI4, Q8N3L9, Q8N875
    Related
    ENSP00000514494.1, ENST00000699641.1
    Conserved Domains (1) summary
    cd09528
    Location:12 → 76
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

  7. NM_001350084.2 → NP_001337013.1  sterile alpha motif domain-containing protein 9-like

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) contains an alternate splice structure in the 5' UTR compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AC000119
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    A0JP23, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IVG5, Q8IWI4, Q8N3L9, Q8N875
    Related
    ENSP00000405760.1, ENST00000411955.5
    Conserved Domains (1) summary
    cd09528
    Location:12 → 76
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

  8. NM_001350085.2 → NP_001337014.1  sterile alpha motif domain-containing protein 9-like

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AC000119
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    A0JP23, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IVG5, Q8IWI4, Q8N3L9, Q8N875
    Conserved Domains (1) summary
    cd09528
    Location:12 → 76
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

  9. NM_152703.5 → NP_689916.2  sterile alpha motif domain-containing protein 9-like

    See identical proteins and their annotated locations for NP_689916.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-9 encode the same protein.
    Source sequence(s)
    AB095926, AC000119, AY195586, BC127117
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    A0JP23, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IVG5, Q8IWI4, Q8N3L9, Q8N875
    Related
    ENSP00000326247.4, ENST00000318238.9
    Conserved Domains (1) summary
    cd09528
    Location:12 → 76
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    93130056..93148385 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    94372089..94390420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IVG5.2 GenPept UniProtKB/Swiss-Prot:Q8IVG5

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