SUN1 (Sad1 and UNC84 domain containing 1)

2016-10-01  

Identity

HGNC
SUN1
LOCATION
7p22.3
LOCUSID
23353
ALIAS
UNC84A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23353
MIM: 607723
HGNC: 18587
Ensembl: ENSG00000164828

Variants:

dbSNP: 23353
ClinVar: 23353
TCGA: ENSG00000164828
COSMIC: SUN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164828ENST00000389574O94901
ENSG00000164828ENST00000401592O94901
ENSG00000164828ENST00000403868O94901
ENSG00000164828ENST00000405266E9PHI4
ENSG00000164828ENST00000419312H7C3X3
ENSG00000164828ENST00000421580C9JS54
ENSG00000164828ENST00000424128C9JR15
ENSG00000164828ENST00000425407O94901
ENSG00000164828ENST00000429178H0Y742
ENSG00000164828ENST00000433212H0Y6N5
ENSG00000164828ENST00000435699C9JK55
ENSG00000164828ENST00000439679C9K051
ENSG00000164828ENST00000440380C9JR15
ENSG00000164828ENST00000450881H7C019
ENSG00000164828ENST00000452783O94901
ENSG00000164828ENST00000457378O94901
ENSG00000164828ENST00000457598C9JJU6
ENSG00000164828ENST00000457861H7C2K3

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376393272024SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis.5
376393272024SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis.5
369330342023Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans.2
369330342023Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans.2
355872812022Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans.5
355872812022Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans.5
336861652021The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi dispersal.9
340399952021The SUN1-SPDYA interaction plays an essential role in meiosis prophase I.10
345803322021Nuclear restriction of HIV-1 infection by SUN1.1
336861652021The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi dispersal.9
340399952021The SUN1-SPDYA interaction plays an essential role in meiosis prophase I.10
345803322021Nuclear restriction of HIV-1 infection by SUN1.1
319359262020SUN1/2 Are Essential for RhoA/ROCK-Regulated Actomyosin Activity in Isolated Vascular Smooth Muscle Cells.15
329310862020The SUN1 splicing variants SUN1_888 and SUN1_916 differentially regulate nucleolar structure.2
319359262020SUN1/2 Are Essential for RhoA/ROCK-Regulated Actomyosin Activity in Isolated Vascular Smooth Muscle Cells.15

Citation

Dessen P

SUN1 (Sad1 and UNC84 domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56534/sun1-(sad1-and-unc84-domain-containing-1)