SSBP1 - single stranded DNA binding protein 1 Gene

Also Known as SSBP; OPA13; mtSSB; Mt-SSB; SOSS-B1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 6742

About SSBP1

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:141,738,321-141,750,488 (from NCBI)

This gene has 15 transcripts (splice variants), 1 gene allele, 219 orthologues and is associated with 2 phenotypes. Ubiquitous expression in appendix (RPKM 9.8), adrenal (RPKM 9.6) and 25 other tissues.

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 19683501].[supplied by OMIM, Feb 2010]

SSBP1 Products (5)

mRNA	Protein	Name
NM_001256510.1	NP_001243439.1	single-stranded DNA-binding protein, mitochondrial precursor
NM_001256511.1	NP_001243440.1	single-stranded DNA-binding protein, mitochondrial precursor
NM_001256512.1	NP_001243441.1	single-stranded DNA-binding protein, mitochondrial precursor
NM_001256513.1	NP_001243442.1	single-stranded DNA-binding protein, mitochondrial precursor
NM_003143.3	NP_003134.1	single-stranded DNA-binding protein, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables chromatin binding	IDA IDA: Inferred from direct assay	18063578	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22453275	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16428295	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	31550237	GOA
enables single-stranded DNA binding	IDA IDA: Inferred from direct assay	26446790	GOA
enables single-stranded DNA binding	IMP IMP: Inferred from mutant phenotype	21953457	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in DNA unwinding involved in DNA replication	IDA IDA: Inferred from direct assay	26446790	GOA
involved in positive regulation of helicase activity	IDA IDA: Inferred from direct assay	12975372	GOA
involved in positive regulation of mitochondrial DNA replication	IDA IDA: Inferred from direct assay	31550240	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	31550240	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	18063578	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	31550237	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SSBP1 Protein Structure

SSB

0
100
148 a.a.

Protein Preferred Names	Protein Names
single-stranded DNA-binding protein, mitochondrial	PWP1-interacting protein 17

SSBP1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SSBP1	Q04837	GCM2	Homo sapiens	O75603	Validated Y2H	32296183
Intra	SSBP1	Q04837	OTUD6A	Homo sapiens	Q7L8S5	Validated Y2H	32296183
Intra	SSBP1	Q04837	SSBP1	Homo sapiens	Q04837	Comigration in SDS	31550237
Intra	SSBP1	Q04837	SSBP1	Homo sapiens	Q04837	TAP	22453275
Intra	SSBP1	Q04837	SSBP1	Homo sapiens	Q04837	X-Ray Diffraction	31550237
Intra	SSBP1	Q04837	LGALS7	Homo sapiens	P47929	Y2H Array	32296183
Intra	SSBP1	Q04837	LGALS7	Homo sapiens	P47929	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Optic Atrophy 13 With Retinal And Foveal Abnormalities	OPA13 Optic Atrophy With Negative Electroretinograms, Formerly
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Mitochondrial Dna Depletion Syndrome 7	Ohaha Syndrome Infantile Onset Spinocerebellar Ataxia Iosca Infantile-Onset Spinocerebellar Ataxia Spinocerebellar Ataxia 8 MTDPS7 Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome Sca8 Spinocerebellar Ataxia Infantile With Sensory Neuropathy Spinocerebellar Ataxia, Infantile-Onset Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy Spinocerebellar Ataxia 8, Formerly Sca8, Formerly Iosca, Mitochondrial Dna Depletion Syndrome 7 Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mtdna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Spinocerebellar Ataxia Infantile-Onset Mitochondrial Dna Depletion Syndrome , Type 7
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Chronic Progressive External Ophthalmoplegia	Progressive External Ophthalmoplegia Cpeo Peo Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, External, Progressive, Chronic Graefe Disease Peo - [Progressive External Ophthalmoplegia] Ophthalmoplegia Plus Syndrome
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Infantile Cerebellar-Retinal Degeneration	ICRD Infantile Cerebellar Retinal Degeneration Degeneration, Cerebellar-Retinal, Infantile
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	PEOA4 Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4 Chronic Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia, Autosomal Dominant 4 Autosomal Dominant Progressive External Ophthalmoplegia 4 Cpeo Graefe Disease Mitochondrial Ocular Myopathy Ocular Myopathy Of Von Graefe-Fuchs Progressive External Ophthalmoplegia Autosomal Dominant 4 Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4 Kearns-Sayre Syndrome
Mitochondrial Dna Depletion Syndrome 1	MTDPS1 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related Myoneurogastrointestinal Encephalopathy Syndrome Polip Syndrome Mitochondrial Dna Depletion Syndrome, Type 1 Mngie, Tymp-Related Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction Mitochondrial Dna Depletion Syndrome 1, Mngie Type Mitochondrial Neurogastrointestinal Encephalomyopathy Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related Myoneurogastrointestinal Encephalomyopathy Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Retinal Degeneration	Degeneration Of Retina
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-W011725	N-6-Methyl-2-deoxyadenosine	Inhibitor	99.83%	Unkown
HY-RS13805	SSBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16224	Ssbp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26239	Ssbp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	SSBP1	MGD	MGI:1920040
Macaca mulatta	SSBP1	VGNC	VGNC:77886
Rattus norvegicus	SSBP1	RGD	RGD:3760
Canis familiaris	SSBP1	VGNC	VGNC:46826
Bos taurus	SSBP1	VGNC	VGNC:35307
Others	SSBP1	NCBI