SSBP1 (single stranded DNA binding protein 1)

2009-03-01  

Identity

HGNC
SSBP1
LOCATION
7q34
LOCUSID
6742
ALIAS
Mt-SSB,OPA13,SOSS-B1,SSBP,mtSSB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6742
MIM: 600439
HGNC: 11317
Ensembl: ENSG00000106028

Variants:

dbSNP: 6742
ClinVar: 6742
TCGA: ENSG00000106028
COSMIC: SSBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106028ENST00000265304Q04837
ENSG00000106028ENST00000265304A4D1U3
ENSG00000106028ENST00000463093C9K0U8
ENSG00000106028ENST00000465582Q04837
ENSG00000106028ENST00000465582A4D1U3
ENSG00000106028ENST00000467681E7EUY5
ENSG00000106028ENST00000473783C9J8J0
ENSG00000106028ENST00000481508Q04837
ENSG00000106028ENST00000481508A4D1U3
ENSG00000106028ENST00000484178Q04837
ENSG00000106028ENST00000484178A4D1U3
ENSG00000106028ENST00000498107Q04837
ENSG00000106028ENST00000498107A4D1U3
ENSG00000106028ENST00000612337Q04837
ENSG00000106028ENST00000612337A4D1U3

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
DNA replicationKEGGko03030
Mismatch repairKEGGko03430
Homologous recombinationKEGGko03440
DNA replicationKEGGhsa03030
Mismatch repairKEGGhsa03430
Homologous recombinationKEGGhsa03440
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201

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
352408182022Identification of SSBP1 as a prognostic marker in human lung adenocarcinoma using bioinformatics approaches.0
361809562022Identification of SSBP1 as a ferroptosis-related biomarker of glioblastoma based on a novel mitochondria-related gene risk model and in vitro experiments.8
352408182022Identification of SSBP1 as a prognostic marker in human lung adenocarcinoma using bioinformatics approaches.0
361809562022Identification of SSBP1 as a ferroptosis-related biomarker of glioblastoma based on a novel mitochondria-related gene risk model and in vitro experiments.8
336714002021De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.8
338479642021Analysis of Mitochondrial SSB-DNA Complexes and Their Effects on DNA Polymerase γ Activity by Electron Microscopy and Enzymatic Assays.0
338479652021Optical Tweezers to Investigate the Structure and Energetics of Single-Stranded DNA-Binding Protein-DNA Complexes.1
338479682021Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein.0
345485402021Characterization of SSBP1-related optic atrophy and foveopathy.4
349050222021SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.5
336714002021De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.8
338479642021Analysis of Mitochondrial SSB-DNA Complexes and Their Effects on DNA Polymerase γ Activity by Electron Microscopy and Enzymatic Assays.0
338479652021Optical Tweezers to Investigate the Structure and Energetics of Single-Stranded DNA-Binding Protein-DNA Complexes.1
338479682021Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein.0
345485402021Characterization of SSBP1-related optic atrophy and foveopathy.4

Citation

Dessen P

SSBP1 (single stranded DNA binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50698/js/lib/case-report-explorer/gene-fusions/?id=50698