C11orf91 (chromosome 11 open reading frame 91) - Rat Genome Database

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Gene: C11orf91 (chromosome 11 open reading frame 91) Homo sapiens
Analyze
Symbol: C11orf91
Name: chromosome 11 open reading frame 91
RGD ID: 2301118
HGNC Page HGNC:34444
Description: ASSOCIATED WITH Intellectual disability; intellectual disability; INTERACTS WITH aristolochic acid A; benzo[a]pyrene; cisplatin
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein LOC100131378; uncharacterized protein C11orf91
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381133,698,261 - 33,706,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1133,698,261 - 33,700,826 (-)EnsemblGRCh38hg38GRCh38
GRCh371133,719,807 - 33,722,372 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361133,676,551 - 33,678,862 (-)NCBINCBI36Build 36hg18NCBI36
Celera1133,867,158 - 33,869,790 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1133,416,295 - 33,418,932 (-)NCBIHuRef
CHM1_11133,719,166 - 33,721,798 (-)NCBICHM1_1
T2T-CHM13v2.01133,835,272 - 33,837,838 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:11181995   PMID:31615875  


Genomics

Comparative Map Data
C11orf91
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381133,698,261 - 33,706,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1133,698,261 - 33,700,826 (-)EnsemblGRCh38hg38GRCh38
GRCh371133,719,807 - 33,722,372 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361133,676,551 - 33,678,862 (-)NCBINCBI36Build 36hg18NCBI36
Celera1133,867,158 - 33,869,790 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1133,416,295 - 33,418,932 (-)NCBIHuRef
CHM1_11133,719,166 - 33,721,798 (-)NCBICHM1_1
T2T-CHM13v2.01133,835,272 - 33,837,838 (-)NCBIT2T-CHM13v2.0
A930018P22Rik
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392103,953,114 - 103,955,091 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2103,953,114 - 103,955,094 (+)EnsemblGRCm39 Ensembl
GRCm382104,122,769 - 104,124,746 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2104,122,769 - 104,124,749 (+)EnsemblGRCm38mm10GRCm38
MGSCv372103,962,926 - 103,964,903 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362103,923,608 - 103,925,585 (+)NCBIMGSCv36mm8
Celera2105,354,594 - 105,356,574 (+)NCBICelera
Cytogenetic Map2E2NCBI
cM Map254.56NCBI
C3h11orf91
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83110,934,488 - 110,941,511 (+)NCBIGRCr8
mRatBN7.2390,479,196 - 90,486,592 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl390,484,607 - 90,486,589 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx393,977,712 - 93,979,694 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03102,576,787 - 102,578,769 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03100,406,900 - 100,408,882 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0394,030,566 - 94,037,890 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl394,035,905 - 94,037,887 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03100,675,069 - 100,677,051 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4389,252,374 - 89,254,356 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera389,545,555 - 89,547,537 (+)NCBICelera
Cytogenetic Map3q32NCBI
CUNH11orf91
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542212,536,413 - 12,539,842 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542212,536,515 - 12,539,332 (+)NCBIChiLan1.0ChiLan1.0
C9H11orf91
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2935,917,179 - 35,920,573 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11135,917,667 - 35,925,222 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01133,670,217 - 33,673,096 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11133,551,752 - 33,554,814 (-)NCBIpanpan1.1PanPan1.1panPan2
C18H11orf91
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11834,008,307 - 34,010,867 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1834,008,138 - 34,010,864 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1833,613,823 - 33,615,905 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01834,619,399 - 34,621,481 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1834,619,227 - 34,621,954 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11834,178,205 - 34,180,287 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01833,771,380 - 33,773,462 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01834,406,709 - 34,408,789 (+)NCBIUU_Cfam_GSD_1.0
CUNH11orf91
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494731,147,295 - 31,151,591 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365334,273,457 - 4,276,318 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365334,274,126 - 4,276,979 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C2H11orf91
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl227,213,107 - 27,215,541 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1227,212,137 - 27,215,545 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2229,768,736 - 29,772,194 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH11orf91
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1131,579,899 - 31,582,754 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl131,579,923 - 31,582,387 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038128,672,028 - 128,678,461 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH11orf91
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476713,319,705 - 13,324,751 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476713,319,737 - 13,324,065 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C11orf91
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 copy number loss See cases [RCV000052648] Chr11:22550115..38199159 [GRCh38]
Chr11:22571661..38220709 [GRCh37]
Chr11:22528237..38177285 [NCBI36]
Chr11:11p14.3-12
pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 copy number loss See cases [RCV000135295] Chr11:26368962..35252976 [GRCh38]
Chr11:26390509..35274523 [GRCh37]
Chr11:26347085..35231099 [NCBI36]
Chr11:11p14.2-13
pathogenic
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 copy number loss See cases [RCV000142499] Chr11:20079474..34463996 [GRCh38]
Chr11:20101020..34485543 [GRCh37]
Chr11:20057596..34442119 [NCBI36]
Chr11:11p15.1-13
pathogenic
GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1 copy number loss See cases [RCV000240268] Chr11:30615127..40606139 [GRCh37]
Chr11:11p14.1-12
pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
GRCh37/hg19 11p13(chr11:31210842-35436121)x1 copy number loss See cases [RCV000446864] Chr11:31210842..35436121 [GRCh37]
Chr11:11p13
pathogenic
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 copy number loss See cases [RCV000445800] Chr11:29238811..45494063 [GRCh37]
Chr11:11p14.1-11.2
pathogenic
GRCh37/hg19 11p14.1-13(chr11:27895487-34494489)x1 copy number loss See cases [RCV000448524] Chr11:27895487..34494489 [GRCh37]
Chr11:11p14.1-13
pathogenic
GRCh37/hg19 11p13(chr11:31828509-34576695)x1 copy number loss See cases [RCV000448824] Chr11:31828509..34576695 [GRCh37]
Chr11:11p13
pathogenic
GRCh37/hg19 11p13-12(chr11:32782607-36404823)x3 copy number gain See cases [RCV000448055] Chr11:32782607..36404823 [GRCh37]
Chr11:11p13-12
uncertain significance
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1 copy number loss See cases [RCV000512014] Chr11:25771208..35614978 [GRCh37]
Chr11:11p14.3-13
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1 copy number loss See cases [RCV000511434] Chr11:27588560..41770792 [GRCh37]
Chr11:11p14.1-12
pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p13(chr11:33297483-34359612)x3 copy number gain not provided [RCV000683354] Chr11:33297483..34359612 [GRCh37]
Chr11:11p13
uncertain significance
GRCh37/hg19 11p13(chr11:32573618-34130228)x1 copy number loss not provided [RCV000683359] Chr11:32573618..34130228 [GRCh37]
Chr11:11p13
uncertain significance
GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1 copy number loss not provided [RCV000683364] Chr11:29883001..33865721 [GRCh37]
Chr11:11p14.1-13
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1 copy number loss not provided [RCV000737457] Chr11:24469451..37524085 [GRCh37]
Chr11:11p14.3-12
pathogenic
GRCh37/hg19 11p14.3-13(chr11:25196998-34196484)x1 copy number loss not provided [RCV000737466] Chr11:25196998..34196484 [GRCh37]
Chr11:11p14.3-13
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1 copy number loss not provided [RCV000849589] Chr11:22079154..35597645 [GRCh37]
Chr11:11p14.3-13
pathogenic
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p13(chr11:33221821-34569417)x1 copy number loss not provided [RCV001006402] Chr11:33221821..34569417 [GRCh37]
Chr11:11p13
uncertain significance
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13
pathogenic
GRCh37/hg19 11p13-12(chr11:32782607-36404823) copy number gain not specified [RCV002052921] Chr11:32782607..36404823 [GRCh37]
Chr11:11p13-12
uncertain significance
GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1 copy number loss not provided [RCV002472502] Chr11:31372721..38259316 [GRCh37]
Chr11:11p13-12
pathogenic
NM_001166692.2(C11orf91):c.158G>C (p.Gly53Ala) single nucleotide variant not specified [RCV004192647] Chr11:33700583 [GRCh38]
Chr11:33722129 [GRCh37]
Chr11:11p13
uncertain significance
NM_001166692.2(C11orf91):c.16C>T (p.Arg6Cys) single nucleotide variant not specified [RCV004192648] Chr11:33700725 [GRCh38]
Chr11:33722271 [GRCh37]
Chr11:11p13
uncertain significance
NM_001166692.2(C11orf91):c.119A>G (p.Asn40Ser) single nucleotide variant not specified [RCV004196931] Chr11:33700622 [GRCh38]
Chr11:33722168 [GRCh37]
Chr11:11p13
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:520
Count of miRNA genes:393
Interacting mature miRNAs:421
Transcripts:ENST00000379011, ENST00000451594, ENST00000531145
Prediction methods:Miranda, Rnahybrid, Targetscan
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
High
Medium 1 1 4 2 306 17 10
Low 541 496 415 188 113 79 1563 460 1038 137 409 760 117 630 869 1
Below cutoff 1540 1678 1004 293 828 250 2395 1508 2334 220 555 679 49 1 519 1601 3

Sequence


RefSeq Acc Id: ENST00000379011   ⟹   ENSP00000368296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1133,698,261 - 33,700,826 (-)Ensembl
RefSeq Acc Id: ENST00000531145   ⟹   ENSP00000433460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1133,698,457 - 33,700,397 (-)Ensembl
RefSeq Acc Id: NM_001166692   ⟹   NP_001160164
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381133,698,261 - 33,700,826 (-)NCBI
GRCh371133,719,654 - 33,722,286 (-)RGD
Celera1133,867,158 - 33,869,790 (-)RGD
HuRef1133,416,295 - 33,418,932 (-)ENTREZGENE
CHM1_11133,719,166 - 33,721,798 (-)NCBI
T2T-CHM13v2.01133,835,272 - 33,837,838 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017053   ⟹   XP_016872542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381133,698,261 - 33,706,550 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001160164 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872542 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAE46895 (Get FASTA)   NCBI Sequence Viewer  
  BAE46896 (Get FASTA)   NCBI Sequence Viewer  
  EAW68194 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000368296
  ENSP00000368296.4
  ENSP00000433460.1
GenBank Protein Q3C1V1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001160164   ⟸   NM_001166692
- UniProtKB: Q3C1V2 (UniProtKB/Swiss-Prot),   Q3C1V1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016872542   ⟸   XM_017017053
- Peptide Label: isoform X1
- UniProtKB: Q3C1V2 (UniProtKB/Swiss-Prot),   Q3C1V1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000433460   ⟸   ENST00000531145
RefSeq Acc Id: ENSP00000368296   ⟸   ENST00000379011

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3C1V1-F1-model_v2 AlphaFold Q3C1V1 1-193 view protein structure

Promoters
RGD ID:6788413
Promoter ID:HG_KWN:12598
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001166692,   UC001MUQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361133,678,819 - 33,679,319 (-)MPROMDB
RGD ID:7219999
Promoter ID:EPDNEW_H15745
Type:initiation region
Name:C11orf91_2
Description:chromosome 11 open reading frame 91
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15755  EPDNEW_H15757  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381133,700,567 - 33,700,627EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34444 AgrOrtholog
COSMIC C11orf91 COSMIC
Ensembl Genes ENSG00000205177 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000379011 ENTREZGENE
  ENST00000379011.5 UniProtKB/Swiss-Prot
  ENST00000531145.1 UniProtKB/TrEMBL
GTEx ENSG00000205177 GTEx
HGNC ID HGNC:34444 ENTREZGENE
Human Proteome Map C11orf91 Human Proteome Map
InterPro C11orf91-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100131378 UniProtKB/Swiss-Prot
NCBI Gene 100131378 ENTREZGENE
PANTHER PTHR36288 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIMILAR TO RIKEN CDNA A930018P22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF5529 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164716759 PharmGKB
UniProt CK091_HUMAN UniProtKB/Swiss-Prot
  H0YDE1_HUMAN UniProtKB/TrEMBL
  Q3C1V1 ENTREZGENE
  Q3C1V2 ENTREZGENE
UniProt Secondary Q3C1V2 UniProtKB/Swiss-Prot