Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6742
Gene name Gene Name - the full gene name approved by the HGNC.	Single stranded DNA binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SSBP1
Synonyms (NCBI Gene) Gene synonyms aliases	Mt-SSB, OPA13, SOSS-B1, SSBP, mtSSB
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q34
Summary Summary of gene provided in NCBI Entrez Gene.	SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 1

Show/Hide all(17)

miRTarBase ID	miRNA	Experiments
MIRT1391618	hsa-miR-2355-3p	CLIP-seq
MIRT1391619	hsa-miR-3189-3p	CLIP-seq
MIRT1391620	hsa-miR-3655	CLIP-seq
MIRT1391621	hsa-miR-4786-3p	CLIP-seq
MIRT1391622	hsa-miR-578	CLIP-seq
MIRT1391623	hsa-miR-671-5p	CLIP-seq
MIRT1391624	hsa-miR-676	CLIP-seq
MIRT2633427	hsa-miR-3672	CLIP-seq
MIRT2633428	hsa-miR-3926	CLIP-seq
MIRT2633429	hsa-miR-4793-5p	CLIP-seq
MIRT2633430	hsa-miR-501-5p	CLIP-seq
MIRT2633431	hsa-miR-548s	CLIP-seq
MIRT2633427	hsa-miR-3672	CLIP-seq
MIRT2633428	hsa-miR-3926	CLIP-seq
MIRT2633429	hsa-miR-4793-5p	CLIP-seq
MIRT2633430	hsa-miR-501-5p	CLIP-seq
MIRT2633431	hsa-miR-548s	CLIP-seq

Show/Hide all(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	18063578
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	26446790, 31550240
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IMP	21953457
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	16428295, 22190034, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	31550237, 31550240
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006261	Process	DNA-templated DNA replication	IDA	26446790
GO:0008047	Function	Enzyme activator activity	IBA
GO:0042645	Component	Mitochondrial nucleoid	IBA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578, 23275553, 31550240
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:0042802	Function	Identical protein binding	IPI	22453275, 31550237
GO:0042803	Function	Protein homodimerization activity	IDA	31550237
GO:0051096	Process	Positive regulation of helicase activity	IDA	12975372
GO:0051289	Process	Protein homotetramerization	IDA	31550240
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0090297	Process	Positive regulation of mitochondrial DNA replication	IBA
GO:0090297	Process	Positive regulation of mitochondrial DNA replication	IDA	31550240

MIM	HGNC	e!Ensembl
600439	11317	ENSG00000106028

Protein

UniProt ID

Q04837

Protein name

Single-stranded DNA-binding protein, mitochondrial (Mt-SSB) (MtSSB) (PWP1-interacting protein 17)

Protein function

Binds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA) (PubMed:21953457, PubMed:23290262, PubMed:31550240). In vitro, required to maintain the copy number of mitochondrial DNA (mtDNA) and plays a crucial role duri

PDB

1S3O , 2DUD , 3ULL , 6RUP , 8UZT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00436	SSB	30 → 140	Single-strand binding protein family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in retinal ganglion cells, photoreceptors, pigmented epithelium and fibroblasts (at protein level). {ECO:0000269|PubMed:31550237}.

Sequence

MFRRPVLQVLRQFVRHESETTTSLVLERSLNRVHLLGRVGQDPVLRQVEGKNPVTIFSLA
TNEMWRSGDSEVYQLGDVSQKTTWHRISVFRPGLRDVAYQYVKKGSRIYLEGKIDYGEYM
DKNNVRRQATTIIADNIIFLSDQTKEKE

Sequence length

148

Interactions

View interactions

	KEGG		Reactome
	DNA replication Mismatch repair Homologous recombination		Transcriptional activation of mitochondrial biogenesis

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC
Optic Atrophy	optic atrophy 13 with retinal and foveal abnormalities	N/A	N/A	GenCC

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35240818
Atherosclerosis	Inhibit	28902926
Burkitt Lymphoma	Associate	18305033
Chromosome 7 monosomy	Associate	11328294
Chromosome Deletion	Associate	33671400
Deafness	Associate	29182774, 36039763
Disease	Associate	34905022
Fatty Liver	Associate	30270343
Glioblastoma	Associate	36180956, 40642071
Hearing Loss	Associate	29182774, 31479473
Hypoxia	Inhibit	30856376
Kearns Sayre Syndrome	Associate	31479473
Keshan disease	Associate	29321553
Lymphedema	Associate	34548540
Mitochondrial Diseases	Stimulate	21536680
Mitochondrial Diseases	Associate	34464898, 36180956, 37259171
Neoplasm Metastasis	Associate	35240818
Neoplasms	Associate	21536680
Neuroblastoma	Associate	23251412
Non alcoholic Fatty Liver Disease	Associate	30270343
Optic Atrophy	Associate	31479473, 31550237, 31738184, 34548540, 34905022, 37259171
Optic Atrophy Autosomal Dominant	Associate	34548540
Optic Nerve Diseases	Associate	31738184
Optic Nerve Hypoplasia	Associate	31738184
Osteosarcoma	Associate	37501645
Ovarian Neoplasms	Associate	20969748
Retinal Degeneration	Associate	31479473, 37259171
Retinal Dystrophies	Associate	34905022
Tooth Loss	Associate	29182774
Visceral myopathy familial external ophthalmoplegia	Associate	31550237
Vision Disorders	Associate	34548540
VLCAD deficiency	Associate	37156631

SSBP1 (single stranded DNA binding protein 1)