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    SAMD14 sterile alpha motif domain containing 14 [ Homo sapiens (human) ]

    Gene ID: 201191, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SAMD14provided by HGNC
    Official Full Name
    sterile alpha motif domain containing 14provided by HGNC
    Primary source
    HGNC:HGNC:27312
    See related
    Ensembl:ENSG00000167100 MIM:619233; AllianceGenome:HGNC:27312
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable actin filament binding activity. Predicted to be involved in actin filament organization; calcium-mediated signaling; and neuron projection development. Predicted to be active in several cellular components, including actin cytoskeleton; dendrite; and postsynaptic density. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 5.2), adrenal (RPKM 5.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q21.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50110040..50130160, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50977142..50997267, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48187404..48207524, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8679 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48173115-48173630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48173631-48174146 Neighboring gene uncharacterized LOC124904026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48178368-48178977 Neighboring gene pyruvate dehydrogenase kinase 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:48184631-48185830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48189161-48189846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48189847-48190532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48191458-48192053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48193223-48193766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48209774-48210516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48210517-48211258 Neighboring gene protein phosphatase 1 regulatory subunit 9B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48223652-48224322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48224323-48224991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12379 Neighboring gene uncharacterized LOC124904025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8686 Neighboring gene Sharpr-MPRA regulatory region 5931 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3603 Neighboring gene uncharacterized LOC105371818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8687 Neighboring gene Sharpr-MPRA regulatory region 13843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48240960-48241460 Neighboring gene sarcoglycan alpha

    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. SAMD14 promoter methylation is strongly associated with gene expression and poor prognosis in gastric cancer. Xu X, et al. Int J Clin Oncol, 2020 Jun. PMID 32206938
    2. Boswellic acid induces epigenetic alterations by modulating DNA methylation in colorectal cancer cells. Shen Y, et al. Cancer Biol Ther, 2012 May. PMID 22415137, Free PMC Article
    3. Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. Fehrmann RS, et al. PLoS Genet, 2011 Aug. PMID 21829388, Free PMC Article
    4. Frequent aberrant methylation of the promoter region of sterile alpha motif domain 14 in pulmonary adenocarcinoma. Sun W, et al. Cancer Sci, 2008 Nov. PMID 18823374
    5. Hyper-N-glycosylated SAMD14 and neurabin-I as driver autoantigens of primary central nervous system lymphoma. Thurner L, et al. Blood, 2018 Dec 27. PMID 30249786

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SAMD14 promoter hyper-methylation was significantly associated with a poor prognosis in gastric cancer.
      Title: SAMD14 promoter methylation is strongly associated with gene expression and poor prognosis in gastric cancer.
    2. Hyper-N-glycosylated SAMD14 and neurabin-I as driver autoantigens of primary central nervous system lymphoma.
      Title: Hyper-N-glycosylated SAMD14 and neurabin-I as driver autoantigens of primary central nervous system lymphoma.
    Submit: New GeneRIF Correction

    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

    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

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30281, FLJ36890

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    sterile alpha motif domain-containing protein 14
    Names
    SAM domain-containing protein 14

    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)

    1. NM_001257359.2 → NP_001244288.1  sterile alpha motif domain-containing protein 14 isoform 2

      See identical proteins and their annotated locations for NP_001244288.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC002401, AF035306, AK094209, BM973393, CN369613
      Consensus CDS
      CCDS58562.1
      UniProtKB/Swiss-Prot
      A5D8V1, Q8IZD0, Q8N2X0
      UniProtKB/TrEMBL
      A8K617
      Related
      ENSP00000329144.4, ENST00000330175.9
      Conserved Domains (2) summary
      cd09512
      Location:321 → 386
      SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
      smart00454
      Location:323 → 386
      SAM; Sterile alpha motif

    2. NM_174920.4 → NP_777580.1  sterile alpha motif domain-containing protein 14 isoform 1

      See identical proteins and their annotated locations for NP_777580.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC002401, AF035306, AY148482, BM973393, CN369613
      Consensus CDS
      CCDS11560.1
      UniProtKB/TrEMBL
      A8K617
      Related
      ENSP00000424474.1, ENST00000503131.1
      Conserved Domains (2) summary
      cd09512
      Location:349 → 414
      SAM_Neurabin-like; SAM domain of SAM_Neurabin-like subfamily
      smart00454
      Location:351 → 414
      SAM; Sterile alpha motif

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50110040..50130160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024322.3 → XP_016879811.1  sterile alpha motif domain-containing protein 14 isoform X1

      UniProtKB/TrEMBL
      J3KN99
      Related
      ENSP00000285206.8, ENST00000285206.12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      50977142..50997267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315361.1 → XP_054171336.1  sterile alpha motif domain-containing protein 14 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZD0.2 GenPept UniProtKB/Swiss-Prot:Q8IZD0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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