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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
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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

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