SSBP1 (single stranded DNA binding protein 1)

Gene

• Entrez ID: 6742
• Gene name: Single stranded DNA binding protein 1
• Gene symbol: SSBP1
• Synonyms (NCBI Gene): Mt-SSB, OPA13, SOSS-B1, SSBP, mtSSB
• Chromosome: 7
• Chromosome location: 7q34
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 600439
• HGNC: 11317
• e!Ensembl: 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

Pathways

KEGG:

DNA replication
Mismatch repair
Homologous recombination

Reactome:

Transcriptional activation of mitochondrial biogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cone-rod dystrophy	Pathogenic	rs1799652893	RCV003324557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy 13 with retinal and foveal abnormalities	Pathogenic; Likely pathogenic	rs1799652893, rs1799747454, rs1799915649, rs1799653139	RCV001255184 RCV001255185 RCV001255186 RCV001255187	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic	rs1799747454	RCV006276096	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	16835338		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28902926		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28902926		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	28902926	Inhibit	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	18305033	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28210897		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31819642		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31819642		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	29182774, 36039763	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	16835338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty liver	Pubtator	30270343	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36180956, 40642071	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	29182774, 31479473	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30856376	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31550240		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	34548540	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28210897		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29545914		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31819642		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21536680	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34464898, 36180956, 37259171	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23251412		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23251412	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28638454		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	31479473, 31550237, 31738184, 34548540, 34905022, 37259171	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	BEFREE	31550237, 31550240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy 1	Optic Atrophy	BEFREE	31298765, 31550237		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Autosomal Dominant	Optic atrophy	Pubtator	34548540	Associate	★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	31738184		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37501645	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20969748	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	31479473, 37259171	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26676758		★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	31550237	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	34548540	Associate	★☆☆☆☆ Found in Text Mining only
VLCAD deficiency	Very long-chain acyl-coa dehydrogenase deficiency	Pubtator	37156631	Associate	★☆☆☆☆ Found in Text Mining only