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    SAMD5 sterile alpha motif domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 389432, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SAMD5provided by HGNC
    Official Full Name
    sterile alpha motif domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:21180
    See related
    Ensembl:ENSG00000203727 MIM:620517; AllianceGenome:HGNC:21180
    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
    Also known as
    dJ875H10.1
    Summary
    Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in placenta (RPKM 5.1), colon (RPKM 4.2) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6q24.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (147508690..147954680)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (148701984..149150652)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (147829826..147891157)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901421 Neighboring gene uncharacterized LOC105378043 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:147759841-147760442 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:147760443-147761044 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:147769071-147769837 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:147824689-147825218 Neighboring gene YAP1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17650 Neighboring gene MPRA-validated peak6202 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90808 Neighboring gene MPRA-validated peak6203 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148037044-148037544 Neighboring gene uncharacterized LOC105378044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148225800-148226300 Neighboring gene uncharacterized LOC124901423 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:148467567-148468766 Neighboring gene NANOG hESC enhancer GRCh37_chr6:148495187-148495773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148573377-148573878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148573879-148574378 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:148585683-148586236 Neighboring gene SAM and SH3 domain containing 1 Neighboring gene RNA, U6 small nuclear 1222, pseudogene

    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. Expression and localization of sterile alpha motif domain containing 5 is associated with cell type and malignancy of biliary tree. Yagai T, et al. PLoS One, 2017. PMID 28388653, Free PMC Article
    2. Common genetic variation and the control of HIV-1 in humans. Fellay J, et al. PLoS Genet, 2009 Dec. PMID 20041166, Free PMC Article
    3. BPA modulates the WDR5/TET2 complex to regulate ERβ expression in eutopic endometrium and drives the development of endometriosis. Xue W, et al. Environ Pollut, 2021 Jan 1. PMID 33022573
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sterile alpha motif domain-containing protein 5
    Names
    SAM domain containing 1
    SAM domain-containing protein 5

    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_001030060.3 → NP_001025231.1  sterile alpha motif domain-containing protein 5

      See identical proteins and their annotated locations for NP_001025231.1

      Status: VALIDATED

      Source sequence(s)
      AL034350, AL354880, BX642659, CB988162
      Consensus CDS
      CCDS34548.1
      UniProtKB/Swiss-Prot
      Q5TGI4
      Related
      ENSP00000356444.1, ENST00000367474.2
      Conserved Domains (2) summary
      cd09527
      Location:2 → 64
      SAM_Samd5; SAM domain of Samd5 subfamily
      smart00454
      Location:6 → 65
      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      147508690..147954680
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010850.2 → XP_016866339.1  sterile alpha motif domain-containing protein 5 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      148701984..149150652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355417.1 → XP_054211392.1  sterile alpha motif domain-containing protein 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TGI4.1 GenPept UniProtKB/Swiss-Prot:Q5TGI4

    Gene LinkOut

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

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