U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 219285, updated on 23-Nov-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SAMD9L in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: SAMD9

    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

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

    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.

    Genomic

    1. NG_053186.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001303496.3NP_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:1276
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
    2. NM_001303497.3NP_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:1276
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
    3. NM_001303498.3NP_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:1276
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
    4. NM_001303500.3NP_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:1276
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
    5. NM_001350082.2NP_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:1276
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
    6. NM_001350083.2NP_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:1276
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
    7. NM_001350084.2NP_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:1276
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
    8. NM_001350085.2NP_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:1276
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
    9. NM_152703.5NP_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:1276
      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)