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

Gene ID: 256979, updated on 5-Mar-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 involved in nuclear envelope organization. Predicted to be integral component of 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, Apr 2022]
Expression
Restricted expression toward testis (RPKM 18.0) See more
Orthologs
mouse all
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Genomic context

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Location:
7p12.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (47987148..48035902, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (48149392..48198144, complement)
105.20220307 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)

Genotypes

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_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
    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

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