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    SUN3 Sad1 and UNC84 domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 256979, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SUN3provided by HGNC
    Official Full Name
    Sad1 and UNC84 domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:22429
    See related
    Ensembl:ENSG00000164744 MIM:618984; AllianceGenome:HGNC:22429
    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
    SUNC1
    Summary
    Predicted to enable protein-membrane adaptor activity. Predicted to be located in nuclear inner membrane. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 18.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See SUN3 in Genome Data Viewer
    Location:
    7p12.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (47987148..48035902, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (48149392..48198144, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (48026745..48068704, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene polycystin 1 like 1, transient receptor potential channel interacting Neighboring gene PKD1L1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47928290-47928890 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:47936298-47936819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47936820-47937340 Neighboring gene NANOG hESC enhancer GRCh37_chr7:47954627-47955128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25983 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:47980802-47982001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25984 Neighboring gene Sharpr-MPRA regulatory region 5513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25985 Neighboring gene uncharacterized LOC105375270 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:48029516-48030356 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:48028674-48029515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25986 Neighboring gene HUS1 checkpoint clamp component Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:48067895-48069094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18171 Neighboring gene OCT4 hESC enhancer GRCh37_chr7:48078286-48078787 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:48081079-48081256 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:48087955-48089154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:48089290-48089790 Neighboring gene chromosome 7 open reading frame 57 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:48127865-48128394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18172 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:48128927-48129456 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:48145170-48145393 Neighboring gene uncharacterized LOC105375271 Neighboring gene uridine phosphorylase 1

    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. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Chiò A, et al. Hum Mol Genet, 2009 Apr 15. PMID 19193627, Free PMC Article
    2. Cynomolgus monkey testicular cDNAs for discovery of novel human genes in the human genome sequence. Osada N, et al. BMC Genomics, 2002 Dec 23. PMID 12498619, Free PMC Article
    3. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
    4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
    3. cDNA of Macaca fascicularis used to identify a novel human gene, SUNC1.
      Title: Cynomolgus monkey testicular cDNAs for discovery of novel human genes in the human genome sequence.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33329

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein-membrane adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of meiotic nuclear membrane microtubule tethering complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    SUN domain-containing protein 3
    Names
    Sad1 and UNC84 domain containing 1
    hypothetical protein MGC33329
    sad1/unc-84 domain-containing protein 1

    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_001030019.2 → NP_001025190.1  SUN domain-containing protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001025190.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AF429967, BC026189, BU623138
      Consensus CDS
      CCDS34636.1
      UniProtKB/Swiss-Prot
      A4D2F3, B4DXK1, D3DVM3, E7EWC8, Q4F965, Q7Z4U8, Q8TAQ9
      Related
      ENSP00000297325.4, ENST00000297325.9
      Conserved Domains (1) summary
      pfam07738
      Location:219 → 353
      Sad1_UNC; Sad1 / UNC-like C-terminal

    2. NM_001284350.2 → NP_001271279.1  SUN domain-containing protein 3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate exon in the 5' coding region compared to variant 1. These differences result in the use of a alternate start codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC069279, AI222206, AK302011, BI825617
      Consensus CDS
      CCDS64647.1
      UniProtKB/TrEMBL
      H7BZA7
      Related
      ENSP00000410204.2, ENST00000412142.5
      Conserved Domains (1) summary
      pfam07738
      Location:207 → 341
      Sad1_UNC; Sad1 / UNC-like C-terminal

    3. NM_152782.4 → NP_689995.3  SUN domain-containing protein 3 isoform 1

      See identical proteins and their annotated locations for NP_689995.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC026189, BG772576, BU623138
      Consensus CDS
      CCDS34636.1
      UniProtKB/Swiss-Prot
      A4D2F3, B4DXK1, D3DVM3, E7EWC8, Q4F965, Q7Z4U8, Q8TAQ9
      Related
      ENSP00000378939.2, ENST00000395572.6
      Conserved Domains (1) summary
      pfam07738
      Location:219 → 353
      Sad1_UNC; Sad1 / UNC-like C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      47987148..48035902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011930.2 → XP_016867419.1  SUN domain-containing protein 3 isoform X2

      UniProtKB/Swiss-Prot
      A4D2F3, B4DXK1, D3DVM3, E7EWC8, Q4F965, Q7Z4U8, Q8TAQ9
      Conserved Domains (1) summary
      pfam07738
      Location:219 → 353
      Sad1_UNC; Sad1 / UNC-like C-terminal

    2. XM_047420114.1 → XP_047276070.1  SUN domain-containing protein 3 isoform X1

    3. XM_047420113.1 → XP_047276069.1  SUN domain-containing protein 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      48149392..48198144 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357758.1 → XP_054213733.1  SUN domain-containing protein 3 isoform X2

      UniProtKB/Swiss-Prot
      A4D2F3, B4DXK1, D3DVM3, E7EWC8, Q4F965, Q7Z4U8, Q8TAQ9

    2. XM_054357757.1 → XP_054213732.1  SUN domain-containing protein 3 isoform X1

    3. XM_054357756.1 → XP_054213731.1  SUN domain-containing protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAQ9.4 GenPept UniProtKB/Swiss-Prot:Q8TAQ9

    Gene LinkOut

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

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