SSBP1
entrez
6742
canonical
uniprot
Q04837
canonical
ensembl
ENSG00000106028
resolver
ensembl
ENSG00000262771
resolver
ensp
ENSP00000265304
resolver
ensp
ENSP00000418068
resolver
ensp
ENSP00000419388
resolver
ensp
ENSP00000419541
resolver
ensp
ENSP00000419665
resolver
ensp
ENSP00000420485
resolver
ensp
ENSP00000458815
resolver
ensp
ENSP00000459208
resolver
ensp
ENSP00000459367
resolver
ensp
ENSP00000460028
resolver
ensp
ENSP00000461884
resolver
ensp
ENSP00000480488
resolver
ensp
ENSP00000542162
resolver
ensp
ENSP00000542163
resolver
ensp
ENSP00000542164
resolver
ensp
ENSP00000542165
resolver
ensp
ENSP00000542166
resolver
ensp
ENSP00000542167
resolver
ensp
ENSP00000607939
resolver
ensp
ENSP00000607940
resolver
ensp
ENSP00000607941
resolver
ensp
ENSP00000607942
resolver
ensp
ENSP00000607944
resolver
ensp
ENSP00000607947
resolver
ensp
ENSP00000607948
resolver
ensp
ENSP00000607949
resolver
ensp
ENSP00000607952
resolver
ensp
ENSP00000607953
resolver
ensp
ENSP00000607958
resolver
ensp
ENSP00000607959
resolver
ensp
ENSP00000607960
resolver
enst
ENST00000265304
resolver
enst
ENST00000465582
resolver
enst
ENST00000481508
resolver
enst
ENST00000484178
resolver
enst
ENST00000498107
resolver
enst
ENST00000570667
resolver
enst
ENST00000571430
resolver
enst
ENST00000574199
resolver
enst
ENST00000575059
resolver
enst
ENST00000576834
resolver
enst
ENST00000612337
resolver
enst
ENST00000872103
resolver
enst
ENST00000872104
resolver
enst
ENST00000872105
resolver
enst
ENST00000872106
resolver
enst
ENST00000872107
resolver
enst
ENST00000872108
resolver
enst
ENST00000937880
resolver
enst
ENST00000937881
resolver
enst
ENST00000937882
resolver
enst
ENST00000937883
resolver
enst
ENST00000937885
resolver
enst
ENST00000937888
resolver
enst
ENST00000937889
resolver
enst
ENST00000937890
resolver
enst
ENST00000937893
resolver
enst
ENST00000937894
resolver
enst
ENST00000937899
resolver
enst
ENST00000937900
resolver
enst
ENST00000937901
resolver
genesymbol
SSBP1
resolver
genesymbol_syn
SSBP
resolver
hgnc
HGNC:11317
resolver
uniprot
A4D1U3
resolver
uniprot
B7WNJ6
resolver
uniprot
B7Z268
resolver
uniprot_entry
A4D1U3_HUMAN
resolver
uniprot_entry
B7Z268_HUMAN
resolver
uniprot_entry
SSBP_HUMAN
resolver
uniprot_sec
B7WNJ6
resolver
amino_acid_sequence
MFRRPVLQVLRQFVRHESETTTSLVLERSLNRVHLLGRVGQDPVLRQVEGKNPVTIFSLATNEMWRSGDSEVYQLGDVSQKTTWHRISVFRPGLRDVAYQYVKKGSRIYLEGKIDYGEYMDKNNVRRQATTIIADNIIFLSDQTKEKE
uniprot
proteins
disease_involvement
DISEASE: Optic atrophy 13 with retinal and foveal abnormalities (OPA13) [MIM:165510]: An autosomal dominant disease characterized by visual impairment in association with bilateral optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. Many OPA13 patients also exhibit retinal pigmentary defects, attenuated retinal vasculature, macular dystrophy, and foveopathy. Some patients may develop additional systemic features, including sensorineural deafness and progressive nephropathy resulting in renal failure. {ECO:0000269|PubMed:31298765, ECO:0000269|PubMed:31550237, ECO:0000269|PubMed:31550240}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 during mtDNA replication by stimulating the activity of the replisome components POLG and TWNK at the replication fork (PubMed:12975372, PubMed:15167897, PubMed:21953457, PubMed:26446790, PubMed:31550240). Promotes the activity of the gamma complex polymerase POLG, largely by organizing the template DNA and eliminating secondary structures to favor ss-DNA conformations that facilitate POLG activity (PubMed:21953457, PubMed:26446790, PubMed:31550240). In addition it is able to promote the 5'-3' unwinding activity of the mtDNA helicase TWNK (PubMed:12975372). May also function in mtDNA repair (PubMed:23290262). {ECO:0000269|PubMed:12975372, ECO:0000269|PubMed:15167897, ECO:0000269|PubMed:21953457, ECO:0000269|PubMed:23290262, ECO:0000269|PubMed:26446790, ECO:0000269|PubMed:31550240}.
uniprot
proteins
mass_dalton
17260
uniprot
proteins
mutagenesis
MUTAGEN 49..51; /note="EGK->AAA: In mtSSBloop12; decreased unwinding of double-stranded DNA by the helicase TWNK and increased binding to single-stranded DNA, in vitro."; /evidence="ECO:0000269|PubMed:21953457"; MUTAGEN 67..75; /note="Missing: In mtSSBloop23; reduced ability to open template DNA and decreased POLG polymerase activity, in vitro. Also displays decreased unwinding of double-stranded DNA by the helicase TWNK and increased binding to single-stranded DNA."; /evidence="ECO:0000269|PubMed:21953457"; MUTAGEN 99..100; /note="YQ->AA: In mtSSBalpha1; decreased POLG polymerase activity, in vitro. No effect on unwinding of double-stranded DNA by the helicase TWNK."; /evidence="ECO:0000269|PubMed:21953457"; MUTAGEN 116..118; /note="YGE->AAA: In mtSSB45-1; decreased POLG polymerase activity and increased unwinding of double-stranded DNA by the helicase TWNK, in vitro."; /evidence="ECO:0000269|PubMed:21953457"; MUTAGEN 122..124; /note="KNN->AAA: In mtSSB45-2; decreased unwinding of double-stranded DNA by the helicase TWNK, in vitro."; /evidence="ECO:0000269|PubMed:21953457
uniprot
proteins
pubmed
12975372
uniprot
proteins
pubmed
15167897
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16428295
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18063578
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19892738
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21953457
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23290262
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25550423
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26446790
uniprot
proteins
pubmed
31298765
uniprot
proteins
pubmed
31550237
uniprot
proteins
pubmed
31550240
uniprot
proteins
pubmed
41398051
uniprot
proteins
pubmed
8482537
uniprot
proteins
pubmed
9033597
uniprot
proteins
sequence_length
148
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:31550237, ECO:0000269|PubMed:31550240}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:31550240}.
uniprot
proteins