PROB1 (proline rich basic protein 1) - Rat Genome Database

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Gene: PROB1 (proline rich basic protein 1) Homo sapiens
Analyze
Symbol: PROB1
Name: proline rich basic protein 1
RGD ID: 5486560
HGNC Page HGNC:41906
Description: Located in nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C5orf65; hypothetical protein LOC389333; proline-rich basic protein 1; uncharacterized protein C5orf65; weakly similar to basic proline-rich protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385139,390,592 - 139,395,104 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5139,390,592 - 139,395,104 (-)EnsemblGRCh38hg38GRCh38
GRCh375138,726,281 - 138,730,793 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365138,755,622 - 138,758,784 (-)NCBINCBI36Build 36hg18NCBI36
Celera5134,848,063 - 134,850,880 (-)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5133,917,367 - 133,920,617 (-)NCBIHuRef
CHM1_15138,160,255 - 138,163,505 (-)NCBICHM1_1
T2T-CHM13v2.05139,916,688 - 139,921,200 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleoplasm  (IBA,IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:19240791   PMID:21873635   PMID:27703147  


Genomics

Comparative Map Data
PROB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385139,390,592 - 139,395,104 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5139,390,592 - 139,395,104 (-)EnsemblGRCh38hg38GRCh38
GRCh375138,726,281 - 138,730,793 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365138,755,622 - 138,758,784 (-)NCBINCBI36Build 36hg18NCBI36
Celera5134,848,063 - 134,850,880 (-)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5133,917,367 - 133,920,617 (-)NCBIHuRef
CHM1_15138,160,255 - 138,163,505 (-)NCBICHM1_1
T2T-CHM13v2.05139,916,688 - 139,921,200 (-)NCBIT2T-CHM13v2.0
Prob1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391835,783,400 - 35,788,274 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1835,783,404 - 35,788,291 (-)EnsemblGRCm39 Ensembl
GRCm381835,650,347 - 35,655,221 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1835,650,351 - 35,655,238 (-)EnsemblGRCm38mm10GRCm38
MGSCv371835,810,008 - 35,814,853 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361835,776,328 - 35,781,356 (-)NCBIMGSCv36mm8
Celera1836,106,476 - 36,111,321 (-)NCBICelera
Cytogenetic Map18B2NCBI
cM Map1819.2NCBI
Prob1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81827,516,599 - 27,521,443 (-)NCBIGRCr8
mRatBN7.21827,242,511 - 27,247,355 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1827,244,280 - 27,247,333 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1827,369,929 - 27,374,773 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01828,132,037 - 28,136,892 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01827,466,923 - 27,471,778 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01828,439,985 - 28,446,585 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1828,441,827 - 28,444,880 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01828,153,095 - 28,159,627 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41828,267,760 - 28,271,502 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1826,975,986 - 26,982,586 (-)NCBICelera
Cytogenetic Map18p11NCBI
Prob1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554181,163,993 - 1,169,968 (+)NCBIChiLan1.0ChiLan1.0
PROB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24134,657,471 - 134,663,379 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15132,797,012 - 132,802,081 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05134,761,660 - 134,767,557 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15140,884,440 - 140,889,138 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5140,885,875 - 140,888,922 (-)Ensemblpanpan1.1panPan2
PROB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1234,713,286 - 34,719,568 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl234,714,399 - 34,717,786 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha231,815,576 - 31,821,849 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0235,167,363 - 35,173,636 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl235,168,802 - 35,171,867 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1232,219,811 - 32,226,083 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0233,086,111 - 33,092,384 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0233,837,734 - 33,844,007 (-)NCBIUU_Cfam_GSD_1.0
Prob1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213153,127,447 - 153,133,943 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365318,479,289 - 8,482,315 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365318,477,562 - 8,483,159 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PROB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2141,282,086 - 141,285,145 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12141,280,252 - 141,286,618 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22147,108,147 - 147,117,197 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PROB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12342,063,062 - 42,067,649 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2342,064,506 - 42,067,541 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603435,819,685 - 35,824,909 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prob1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474332,196,485 - 32,199,499 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474332,195,026 - 32,199,784 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PROB1
53 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3 copy number gain See cases [RCV000051862] Chr5:139151411..139493628 [GRCh38]
Chr5:138487100..138873213 [GRCh37]
Chr5:138514999..138853397 [NCBI36]
Chr5:5q31.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q31.2(chr5:138738648-139442996)x1 copy number loss See cases [RCV000052579] Chr5:138738648..139442996 [GRCh38]
Chr5:138074337..138778685 [GRCh37]
Chr5:138102236..138806584 [NCBI36]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 copy number gain See cases [RCV000133750] Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3 copy number gain See cases [RCV000137000] Chr5:139103408..139683294 [GRCh38]
Chr5:138439097..139062879 [GRCh37]
Chr5:138466996..139043063 [NCBI36]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
NM_001161546.2(PROB1):c.671G>A (p.Gly224Asp) single nucleotide variant Keratoconus 1 [RCV000491696] Chr5:139394411 [GRCh38]
Chr5:138730100 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001161546.2(PROB1):c.2333C>T (p.Pro778Leu) single nucleotide variant Inborn genetic diseases [RCV003288894] Chr5:139392749 [GRCh38]
Chr5:138728438 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5q31.2(chr5:138390162-139160907)x3 copy number gain not provided [RCV000682599] Chr5:138390162..139160907 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001161546.2(PROB1):c.1061G>C (p.Arg354Pro) single nucleotide variant Inborn genetic diseases [RCV003267685] Chr5:139394021 [GRCh38]
Chr5:138729710 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.780C>G (p.Ser260Arg) single nucleotide variant not provided [RCV000971884] Chr5:139394302 [GRCh38]
Chr5:138729991 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.2364C>T (p.Arg788=) single nucleotide variant not provided [RCV000884556] Chr5:139392718 [GRCh38]
Chr5:138728407 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.32C>T (p.Pro11Leu) single nucleotide variant Inborn genetic diseases [RCV002548371]|not provided [RCV000973242] Chr5:139395050 [GRCh38]
Chr5:138730739 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_001161546.2(PROB1):c.127C>G (p.Pro43Ala) single nucleotide variant not provided [RCV000966965] Chr5:139394955 [GRCh38]
Chr5:138730644 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.1517C>T (p.Ala506Val) single nucleotide variant not provided [RCV000880602] Chr5:139393565 [GRCh38]
Chr5:138729254 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.1507C>A (p.Pro503Thr) single nucleotide variant not provided [RCV000966964] Chr5:139393575 [GRCh38]
Chr5:138729264 [GRCh37]
Chr5:5q31.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1 copy number loss not provided [RCV000846144] Chr5:137865800..139097368 [GRCh37]
Chr5:5q31.2
pathogenic
NC_000005.9:g.(?_138266142)_(138861289_?)dup duplication not provided [RCV003107539] Chr5:138266142..138861289 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1283C>T (p.Pro428Leu) single nucleotide variant Inborn genetic diseases [RCV003250991] Chr5:139393799 [GRCh38]
Chr5:138729488 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2198T>C (p.Ile733Thr) single nucleotide variant Inborn genetic diseases [RCV003251058] Chr5:139392884 [GRCh38]
Chr5:138728573 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2003C>T (p.Pro668Leu) single nucleotide variant not provided [RCV000910266] Chr5:139393079 [GRCh38]
Chr5:138728768 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.1475C>G (p.Pro492Arg) single nucleotide variant not provided [RCV000955344] Chr5:139393607 [GRCh38]
Chr5:138729296 [GRCh37]
Chr5:5q31.2
benign
GRCh37/hg19 5q31.2(chr5:138101724-138876953)x3 copy number gain not provided [RCV001259915] Chr5:138101724..138876953 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138351402-138893343)x3 copy number gain not provided [RCV001259916] Chr5:138351402..138893343 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1 copy number loss not provided [RCV001270645] Chr5:137754277..138994590 [GRCh37]
Chr5:5q31.2
likely pathogenic
GRCh37/hg19 5q31.2(chr5:138386858-138935115)x3 copy number gain not provided [RCV001827923] Chr5:138386858..138935115 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1 copy number loss not provided [RCV001834327] Chr5:138675227..139314012 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NC_000005.9:g.(?_136957787)_(140078137_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NC_000005.9:g.(?_136957787)_(138861289_?)del deletion STING-associated vasculopathy with onset in infancy [RCV003113978] Chr5:136957787..138861289 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2875C>G (p.Gln959Glu) single nucleotide variant Inborn genetic diseases [RCV003295641] Chr5:139392207 [GRCh38]
Chr5:138727896 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1151C>T (p.Pro384Leu) single nucleotide variant Inborn genetic diseases [RCV003261470] Chr5:139393931 [GRCh38]
Chr5:138729620 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.961C>G (p.Arg321Gly) single nucleotide variant Inborn genetic diseases [RCV002859475] Chr5:139394121 [GRCh38]
Chr5:138729810 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2731G>A (p.Gly911Arg) single nucleotide variant Inborn genetic diseases [RCV002970033] Chr5:139392351 [GRCh38]
Chr5:138728040 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.644G>A (p.Arg215Gln) single nucleotide variant Inborn genetic diseases [RCV002840713] Chr5:139394438 [GRCh38]
Chr5:138730127 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.581A>T (p.Glu194Val) single nucleotide variant Inborn genetic diseases [RCV002779659] Chr5:139394501 [GRCh38]
Chr5:138730190 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.200C>T (p.Ala67Val) single nucleotide variant Inborn genetic diseases [RCV002969002] Chr5:139394882 [GRCh38]
Chr5:138730571 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2585C>G (p.Ser862Cys) single nucleotide variant Inborn genetic diseases [RCV002686433] Chr5:139392497 [GRCh38]
Chr5:138728186 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1399G>A (p.Gly467Arg) single nucleotide variant Inborn genetic diseases [RCV002689331] Chr5:139393683 [GRCh38]
Chr5:138729372 [GRCh37]
Chr5:5q31.2
likely benign
GRCh37/hg19 5q31.2(chr5:137893096-138868605)x3 copy number gain not provided [RCV002475593] Chr5:137893096..138868605 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.3001A>C (p.Ser1001Arg) single nucleotide variant Inborn genetic diseases [RCV002901212] Chr5:139392081 [GRCh38]
Chr5:138727770 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1751T>C (p.Val584Ala) single nucleotide variant Inborn genetic diseases [RCV002882943] Chr5:139393331 [GRCh38]
Chr5:138729020 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.29T>C (p.Leu10Pro) single nucleotide variant Inborn genetic diseases [RCV002782428] Chr5:139395053 [GRCh38]
Chr5:138730742 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1022G>T (p.Ser341Ile) single nucleotide variant Inborn genetic diseases [RCV002692967] Chr5:139394060 [GRCh38]
Chr5:138729749 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.152A>G (p.Lys51Arg) single nucleotide variant Inborn genetic diseases [RCV002887046] Chr5:139394930 [GRCh38]
Chr5:138730619 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.352G>A (p.Gly118Arg) single nucleotide variant Inborn genetic diseases [RCV002870263] Chr5:139394730 [GRCh38]
Chr5:138730419 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1678A>G (p.Thr560Ala) single nucleotide variant Inborn genetic diseases [RCV002697308] Chr5:139393404 [GRCh38]
Chr5:138729093 [GRCh37]
Chr5:5q31.2
likely benign
NM_001161546.2(PROB1):c.919G>A (p.Ala307Thr) single nucleotide variant Inborn genetic diseases [RCV002826177] Chr5:139394163 [GRCh38]
Chr5:138729852 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.827G>A (p.Arg276Gln) single nucleotide variant Inborn genetic diseases [RCV002698785] Chr5:139394255 [GRCh38]
Chr5:138729944 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.466C>G (p.Arg156Gly) single nucleotide variant Inborn genetic diseases [RCV002930678] Chr5:139394616 [GRCh38]
Chr5:138730305 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2627C>G (p.Ala876Gly) single nucleotide variant Inborn genetic diseases [RCV002930394] Chr5:139392455 [GRCh38]
Chr5:138728144 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.47A>G (p.Gln16Arg) single nucleotide variant Inborn genetic diseases [RCV002853949] Chr5:139395035 [GRCh38]
Chr5:138730724 [GRCh37]
Chr5:5q31.2
likely benign
NM_001161546.2(PROB1):c.2341G>A (p.Gly781Ser) single nucleotide variant Inborn genetic diseases [RCV003006674] Chr5:139392741 [GRCh38]
Chr5:138728430 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2371G>T (p.Val791Leu) single nucleotide variant Inborn genetic diseases [RCV002698149] Chr5:139392711 [GRCh38]
Chr5:138728400 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2021C>T (p.Pro674Leu) single nucleotide variant Inborn genetic diseases [RCV002802870] Chr5:139393061 [GRCh38]
Chr5:138728750 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.353G>A (p.Gly118Glu) single nucleotide variant Inborn genetic diseases [RCV002940944] Chr5:139394729 [GRCh38]
Chr5:138730418 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1217G>T (p.Gly406Val) single nucleotide variant Inborn genetic diseases [RCV002941199] Chr5:139393865 [GRCh38]
Chr5:138729554 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.665C>T (p.Ala222Val) single nucleotide variant Inborn genetic diseases [RCV002670231] Chr5:139394417 [GRCh38]
Chr5:138730106 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2066C>A (p.Pro689Gln) single nucleotide variant Inborn genetic diseases [RCV002769025] Chr5:139393016 [GRCh38]
Chr5:138728705 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2080C>T (p.Pro694Ser) single nucleotide variant Inborn genetic diseases [RCV003010754] Chr5:139393002 [GRCh38]
Chr5:138728691 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1649C>T (p.Thr550Ile) single nucleotide variant Inborn genetic diseases [RCV002934709] Chr5:139393433 [GRCh38]
Chr5:138729122 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.583G>A (p.Glu195Lys) single nucleotide variant Inborn genetic diseases [RCV002679434] Chr5:139394499 [GRCh38]
Chr5:138730188 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.290G>T (p.Arg97Leu) single nucleotide variant Inborn genetic diseases [RCV002677345] Chr5:139394792 [GRCh38]
Chr5:138730481 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2422G>A (p.Ala808Thr) single nucleotide variant Inborn genetic diseases [RCV002724550] Chr5:139392660 [GRCh38]
Chr5:138728349 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1940G>A (p.Gly647Glu) single nucleotide variant Inborn genetic diseases [RCV003194925] Chr5:139393142 [GRCh38]
Chr5:138728831 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.836C>A (p.Pro279His) single nucleotide variant Inborn genetic diseases [RCV003180746] Chr5:139394246 [GRCh38]
Chr5:138729935 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1346G>A (p.Ser449Asn) single nucleotide variant Inborn genetic diseases [RCV003194245] Chr5:139393736 [GRCh38]
Chr5:138729425 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1679C>T (p.Thr560Ile) single nucleotide variant Inborn genetic diseases [RCV003204618] Chr5:139393403 [GRCh38]
Chr5:138729092 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.643C>T (p.Arg215Trp) single nucleotide variant Inborn genetic diseases [RCV003206169] Chr5:139394439 [GRCh38]
Chr5:138730128 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2156G>A (p.Arg719Lys) single nucleotide variant Inborn genetic diseases [RCV003181224] Chr5:139392926 [GRCh38]
Chr5:138728615 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2384G>C (p.Gly795Ala) single nucleotide variant Inborn genetic diseases [RCV003216900] Chr5:139392698 [GRCh38]
Chr5:138728387 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.376G>A (p.Ala126Thr) single nucleotide variant Inborn genetic diseases [RCV003348026] Chr5:139394706 [GRCh38]
Chr5:138730395 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.521G>A (p.Arg174Gln) single nucleotide variant Inborn genetic diseases [RCV003376868] Chr5:139394561 [GRCh38]
Chr5:138730250 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.477G>C (p.Gln159His) single nucleotide variant Inborn genetic diseases [RCV003384982] Chr5:139394605 [GRCh38]
Chr5:138730294 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.406A>G (p.Thr136Ala) single nucleotide variant Inborn genetic diseases [RCV003367784] Chr5:139394676 [GRCh38]
Chr5:138730365 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1143G>T (p.Ser381=) single nucleotide variant not provided [RCV003436455] Chr5:139393939 [GRCh38]
Chr5:138729628 [GRCh37]
Chr5:5q31.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:365
Count of miRNA genes:342
Interacting mature miRNAs:364
Transcripts:ENST00000434752
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 42 476 39 7 325 810 1133 37 3 65 36 10 809
Low 2341 1950 1418 351 1049 200 3470 1059 3678 361 1373 1554 164 1 1202 1963 5
Below cutoff 53 564 264 260 568 260 75 3 18 53 22 22 2 16 1 1

Sequence


RefSeq Acc Id: ENST00000434752   ⟹   ENSP00000416033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,390,592 - 139,395,104 (-)Ensembl
RefSeq Acc Id: NM_001161546   ⟹   NP_001155018
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,390,592 - 139,395,104 (-)NCBI
GRCh375138,727,635 - 138,730,885 (-)ENTREZGENE
HuRef5133,917,367 - 133,920,617 (-)ENTREZGENE
CHM1_15138,160,255 - 138,163,505 (-)NCBI
T2T-CHM13v2.05139,916,688 - 139,921,200 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001155018 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAG64269 (Get FASTA)   NCBI Sequence Viewer  
  BAH14854 (Get FASTA)   NCBI Sequence Viewer  
  E7EW31 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000416033
  ENSP00000416033.2
RefSeq Acc Id: NP_001155018   ⟸   NM_001161546
- UniProtKB: B4E007 (UniProtKB/Swiss-Prot),   E7EW31 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000416033   ⟸   ENST00000434752

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-E7EW31-F1-model_v2 AlphaFold E7EW31 1-1015 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:41906 AgrOrtholog
COSMIC PROB1 COSMIC
Ensembl Genes ENSG00000228672 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000434752 ENTREZGENE
  ENST00000434752.4 UniProtKB/Swiss-Prot
GTEx ENSG00000228672 GTEx
HGNC ID HGNC:41906 ENTREZGENE
Human Proteome Map PROB1 Human Proteome Map
InterPro DUF4585 UniProtKB/Swiss-Prot
KEGG Report hsa:389333 UniProtKB/Swiss-Prot
NCBI Gene 389333 ENTREZGENE
PANTHER CARDIAC-ENRICHED FHL2-INTERACTING PROTEIN-RELATED UniProtKB/Swiss-Prot
  PROLINE-RICH BASIC PROTEIN 1 UniProtKB/Swiss-Prot
Pfam DUF4585 UniProtKB/Swiss-Prot
PharmGKB PA166049072 PharmGKB
UniProt B4E007 ENTREZGENE
  E7EW31 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4E007 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 PROB1  proline rich basic protein 1    proline-rich basic protein 1  Symbol and/or name change 5135510 APPROVED
2012-10-09 PROB1  proline-rich basic protein 1  C5orf65  chromosome 5 open reading frame 65  Symbol and/or name change 5135510 APPROVED