LORICRIN (loricrin cornified envelope precursor protein) - Rat Genome Database

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Gene: LORICRIN (loricrin cornified envelope precursor protein) Homo sapiens
Analyze
Symbol: LORICRIN
Name: loricrin cornified envelope precursor protein
RGD ID: 1347914
HGNC Page HGNC:6663
Description: A structural constituent of skin epidermis. Involved in keratinocyte differentiation. Located in cornified envelope and cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LOR; MGC111513
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh381153,259,687 - 153,262,124 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1153,259,687 - 153,262,124 (+)EnsemblGRCh38hg38GRCh38
GRCh371153,232,163 - 153,234,600 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361151,498,803 - 151,501,224 (+)NCBINCBI36Build 36hg18NCBI36
Build 341150,046,475 - 150,047,671NCBI
Celera1126,303,436 - 126,305,857 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1124,595,566 - 124,597,999 (+)NCBIHuRef
CHM1_11154,627,959 - 154,630,380 (+)NCBICHM1_1
T2T-CHM13v2.01152,396,903 - 152,399,352 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cornified envelope  (IBA,IDA,IEA,TAS)
cytoplasm  (IBA,IDA,IEA)
cytoplasmic side of plasma membrane  (ISO)
cytosol  (TAS)
nucleoplasm  (IEA)
nucleus  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1355480   PMID:2007607   PMID:7543090   PMID:7592852   PMID:8248167   PMID:8274037   PMID:8673107   PMID:8999895   PMID:9326323   PMID:9326398   PMID:9690138   PMID:10066784  
PMID:10798362   PMID:10908733   PMID:11443109   PMID:11698679   PMID:11703298   PMID:12072018   PMID:12200429   PMID:12477932   PMID:12615358   PMID:15102081   PMID:15598222   PMID:16169070  
PMID:17953701   PMID:18166499   PMID:18844868   PMID:19601998   PMID:19672094   PMID:20184865   PMID:20236940   PMID:20634891   PMID:21198793   PMID:21221983   PMID:21873635   PMID:22831754  
PMID:23678955   PMID:24981860   PMID:25142840   PMID:25234742   PMID:25896246   PMID:25965869   PMID:26186194   PMID:26381575   PMID:26673895   PMID:28514442   PMID:29509190   PMID:31056744  
PMID:31322196   PMID:32694731   PMID:32751111   PMID:32939012   PMID:32941674   PMID:33729478   PMID:33961781   PMID:34943047   PMID:35013218   PMID:35346558   PMID:35944360   PMID:36114006  
PMID:37120454   PMID:37298411  


Genomics

Comparative Map Data
LORICRIN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381153,259,687 - 153,262,124 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1153,259,687 - 153,262,124 (+)EnsemblGRCh38hg38GRCh38
GRCh371153,232,163 - 153,234,600 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361151,498,803 - 151,501,224 (+)NCBINCBI36Build 36hg18NCBI36
Build 341150,046,475 - 150,047,671NCBI
Celera1126,303,436 - 126,305,857 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1124,595,566 - 124,597,999 (+)NCBIHuRef
CHM1_11154,627,959 - 154,630,380 (+)NCBICHM1_1
T2T-CHM13v2.01152,396,903 - 152,399,352 (+)NCBIT2T-CHM13v2.0
Loricrin
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39391,987,578 - 91,990,447 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl391,987,578 - 91,990,449 (-)EnsemblGRCm39 Ensembl
GRCm38392,080,271 - 92,083,142 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl392,080,271 - 92,083,142 (-)EnsemblGRCm38mm10GRCm38
MGSCv37391,884,193 - 91,887,064 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36392,166,209 - 92,169,067 (-)NCBIMGSCv36mm8
Celera392,123,831 - 92,126,702 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map340.14NCBI
Loricrin
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82180,253,674 - 180,256,572 (-)NCBIGRCr8
mRatBN7.22177,558,062 - 177,560,960 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2177,558,252 - 177,559,807 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2185,120,471 - 185,123,369 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02183,102,235 - 183,105,133 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02177,763,534 - 177,766,432 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02191,984,455 - 191,990,713 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2191,984,773 - 191,986,170 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02212,877,186 - 212,882,693 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42184,953,538 - 184,955,283 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2172,680,893 - 172,687,160 (+)NCBICelera
Cytogenetic Map2q34NCBI
Loricrin
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955592167,139 - 169,638 (-)NCBIChiLan1.0ChiLan1.0
LORICRIN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2196,580,323 - 96,581,568 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1196,315,995 - 96,317,311 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01128,607,506 - 128,608,808 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
LORICRIN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11761,994,297 - 61,995,591 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1761,460,176 - 61,463,150 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01763,144,507 - 63,147,606 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11761,893,634 - 61,896,464 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01761,944,715 - 61,947,725 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01762,703,311 - 62,706,427 (+)NCBIUU_Cfam_GSD_1.0
LORICRIN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl496,304,070 - 96,305,110 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1496,303,835 - 96,308,016 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24105,206,034 - 105,209,187 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LORICRIN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12010,494,570 - 10,497,944 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660389,966,739 - 9,968,274 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Loricrin
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624885675,955 - 677,391 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LORICRIN
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
LOR, 1-BP INS, 730G insertion Loricrin keratoderma [RCV000015499] Chr1:1q21 pathogenic
NM_000427.3(LORICRIN):c.664dup (p.Gln222fs) duplication Loricrin keratoderma [RCV000015500] Chr1:153261609..153261610 [GRCh38]
Chr1:153234085..153234086 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh38/hg38 1q21.3(chr1:152951169-153495655)x3 copy number gain See cases [RCV000136561] Chr1:152951169..153495655 [GRCh38]
Chr1:152923645..153468131 [GRCh37]
Chr1:151190269..151734755 [NCBI36]
Chr1:1q21.3
uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
NM_000427.3(LORICRIN):c.684dup (p.Ser229fs) duplication Loricrin keratoderma [RCV002284965]|not provided [RCV000368922] Chr1:153261627..153261628 [GRCh38]
Chr1:153234103..153234104 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000427.3(LORICRIN):c.445G>T (p.Gly149Cys) single nucleotide variant Inborn genetic diseases [RCV003289939] Chr1:153261394 [GRCh38]
Chr1:153233870 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3
pathogenic
NM_000427.3(LORICRIN):c.112GGC[5] (p.Gly41dup) microsatellite Loricrin keratoderma [RCV000714804]|not provided [RCV000967735] Chr1:153261059..153261060 [GRCh38]
Chr1:153233535..153233536 [GRCh37]
Chr1:1q21.3
benign|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.3(chr1:153215866-153242088)x1 copy number loss not provided [RCV000749189] Chr1:153215866..153242088 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.854C>T (p.Ser285Phe) single nucleotide variant not provided [RCV000881144] Chr1:153261803 [GRCh38]
Chr1:153234279 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.483C>T (p.Tyr161=) single nucleotide variant not provided [RCV000916395] Chr1:153261432 [GRCh38]
Chr1:153233908 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.352G>A (p.Gly118Ser) single nucleotide variant Inborn genetic diseases [RCV003266977] Chr1:153261301 [GRCh38]
Chr1:153233777 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.874G>A (p.Gly292Ser) single nucleotide variant not provided [RCV000915834] Chr1:153261823 [GRCh38]
Chr1:153234299 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.673dup (p.Tyr225fs) duplication not provided [RCV001008534] Chr1:153261620..153261621 [GRCh38]
Chr1:153234096..153234097 [GRCh37]
Chr1:1q21.3
likely pathogenic
NM_000427.3(LORICRIN):c.838G>A (p.Gly280Ser) single nucleotide variant Inborn genetic diseases [RCV003290091] Chr1:153261787 [GRCh38]
Chr1:153234263 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.153C>T (p.Cys51=) single nucleotide variant not provided [RCV001676153] Chr1:153261102 [GRCh38]
Chr1:153233578 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.486A>G (p.Gly162=) single nucleotide variant not provided [RCV000976074] Chr1:153261435 [GRCh38]
Chr1:153233911 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.276A>G (p.Gly92=) single nucleotide variant not provided [RCV000957787] Chr1:153261225 [GRCh38]
Chr1:153233701 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.255T>A (p.Gly85=) single nucleotide variant not provided [RCV000911850] Chr1:153261204 [GRCh38]
Chr1:153233680 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.870G>A (p.Gly290=) single nucleotide variant not provided [RCV001595307] Chr1:153261819 [GRCh38]
Chr1:153234295 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.574_585dup (p.Gly192_Gly195dup) duplication not provided [RCV001643574] Chr1:153261515..153261516 [GRCh38]
Chr1:153233991..153233992 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.515dup (p.Gly173fs) duplication Loricrin keratoderma [RCV002471825] Chr1:153261459..153261460 [GRCh38]
Chr1:153233935..153233936 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1q21.3(chr1:153061323-153904594)x3 copy number gain not provided [RCV001005141] Chr1:153061323..153904594 [GRCh37]
Chr1:1q21.3
uncertain significance
NC_000001.11:g.153262126T>C single nucleotide variant not provided [RCV001695312] Chr1:153262126 [GRCh38]
Chr1:153234602 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.276A>C (p.Gly92=) single nucleotide variant not provided [RCV001616079] Chr1:153261225 [GRCh38]
Chr1:153233701 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.85A>G (p.Ser29Gly) single nucleotide variant not provided [RCV001669938] Chr1:153261034 [GRCh38]
Chr1:153233510 [GRCh37]
Chr1:1q21.3
benign
GRCh37/hg19 1q21.3(chr1:153007105-153463223)x3 copy number gain not provided [RCV001258470] Chr1:153007105..153463223 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.619G>T (p.Gly207Cys) single nucleotide variant Moyamoya angiopathy [RCV001261745] Chr1:153261568 [GRCh38]
Chr1:153234044 [GRCh37]
Chr1:1q21.3
likely pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_000427.3(LORICRIN):c.592G>T (p.Gly198Ter) single nucleotide variant Vohwinkel syndrome, variant form [RCV001292610] Chr1:153261541 [GRCh38]
Chr1:153234017 [GRCh37]
Chr1:1q21.3
pathogenic
NM_000427.3(LORICRIN):c.272C>G (p.Ser91Cys) single nucleotide variant not provided [RCV001310541] Chr1:153261221 [GRCh38]
Chr1:153233697 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.619G>A (p.Gly207Ser) single nucleotide variant not provided [RCV001354351] Chr1:153261568 [GRCh38]
Chr1:153234044 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.835GGC[6] (p.Gly283dup) microsatellite not provided [RCV001355609] Chr1:153261783..153261784 [GRCh38]
Chr1:153234259..153234260 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_000427.3(LORICRIN):c.597dup (p.Ser200fs) duplication Loricrin keratoderma [RCV001782392] Chr1:153261545..153261546 [GRCh38]
Chr1:153234021..153234022 [GRCh37]
Chr1:1q21.3
likely pathogenic
NM_000427.3(LORICRIN):c.624C>G (p.Tyr208Ter) single nucleotide variant Loricrin keratoderma [RCV001782391] Chr1:153261573 [GRCh38]
Chr1:153234049 [GRCh37]
Chr1:1q21.3
likely pathogenic
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1
uncertain significance
NM_000427.3(LORICRIN):c.76GGC[6] (p.Gly28_Ser29insGlyGlyGly) microsatellite not provided [RCV003118309] Chr1:153261024..153261025 [GRCh38]
Chr1:153233500..153233501 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.72_95del (p.Gly26_Gly33del) deletion not provided [RCV002904482] Chr1:153261011..153261034 [GRCh38]
Chr1:153233487..153233510 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q21.3(chr1:152648864-153286218)x3 copy number gain not provided [RCV002475654] Chr1:152648864..153286218 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.561_566delinsGCGGCGG (p.Cys187fs) indel not provided [RCV002991816] Chr1:153261510..153261515 [GRCh38]
Chr1:153233986..153233991 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.409_423del (p.Ser137_Ser141del) deletion not provided [RCV002970666] Chr1:153261346..153261360 [GRCh38]
Chr1:153233822..153233836 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.69TGGCGG[4] (p.Gly28_Ser29insGlyGlyGlyGly) microsatellite not provided [RCV002995505] Chr1:153261012..153261013 [GRCh38]
Chr1:153233488..153233489 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.653C>T (p.Ser218Leu) single nucleotide variant not provided [RCV002620430] Chr1:153261602 [GRCh38]
Chr1:153234078 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.69TGGCGG[3] (p.Gly28_Ser29insGlyGly) microsatellite not provided [RCV002824921] Chr1:153261012..153261013 [GRCh38]
Chr1:153233488..153233489 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.272C>T (p.Ser91Phe) single nucleotide variant not provided [RCV002894380] Chr1:153261221 [GRCh38]
Chr1:153233697 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.740G>C (p.Gly247Ala) single nucleotide variant not provided [RCV002576092] Chr1:153261689 [GRCh38]
Chr1:153234165 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.400G>A (p.Gly134Ser) single nucleotide variant not provided [RCV003041831] Chr1:153261349 [GRCh38]
Chr1:153233825 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.323G>C (p.Gly108Ala) single nucleotide variant not provided [RCV002957446] Chr1:153261272 [GRCh38]
Chr1:153233748 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.484G>T (p.Gly162Ter) single nucleotide variant not provided [RCV002508884] Chr1:153261433 [GRCh38]
Chr1:153233909 [GRCh37]
Chr1:1q21.3
likely pathogenic
NM_000427.3(LORICRIN):c.55A>G (p.Thr19Ala) single nucleotide variant not provided [RCV002918836] Chr1:153261004 [GRCh38]
Chr1:153233480 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.860G>A (p.Gly287Asp) single nucleotide variant not provided [RCV002720764] Chr1:153261809 [GRCh38]
Chr1:153234285 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.391_435del (p.121SSGGGSGCFSSGGGG[1]) deletion not provided [RCV002648147] Chr1:153261304..153261348 [GRCh38]
Chr1:153233780..153233824 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.750C>T (p.Ser250=) single nucleotide variant not provided [RCV002922598] Chr1:153261699 [GRCh38]
Chr1:153234175 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.288_302dup (p.Ser101_Gly102insSerGlyGlyGlySer) duplication not provided [RCV002899853] Chr1:153261231..153261232 [GRCh38]
Chr1:153233707..153233708 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.506C>T (p.Ser169Phe) single nucleotide variant not provided [RCV002944205] Chr1:153261455 [GRCh38]
Chr1:153233931 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.277G>A (p.Gly93Ser) single nucleotide variant Inborn genetic diseases [RCV003196943] Chr1:153261226 [GRCh38]
Chr1:153233702 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.253G>C (p.Gly85Arg) single nucleotide variant Inborn genetic diseases [RCV003197326] Chr1:153261202 [GRCh38]
Chr1:153233678 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.736G>C (p.Gly246Arg) single nucleotide variant Loricrin keratoderma [RCV003225789] Chr1:153261685 [GRCh38]
Chr1:153234161 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.806G>A (p.Gly269Asp) single nucleotide variant Inborn genetic diseases [RCV003180332] Chr1:153261755 [GRCh38]
Chr1:153234231 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.67G>A (p.Gly23Ser) single nucleotide variant Inborn genetic diseases [RCV003219315] Chr1:153261016 [GRCh38]
Chr1:153233492 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1
pathogenic
NM_000427.3(LORICRIN):c.806dup (p.Ser270fs) duplication not provided [RCV003328930] Chr1:153261750..153261751 [GRCh38]
Chr1:153234226..153234227 [GRCh37]
Chr1:1q21.3
pathogenic
NM_000427.3(LORICRIN):c.180T>G (p.Ser60=) single nucleotide variant not provided [RCV003334105] Chr1:153261129 [GRCh38]
Chr1:153233605 [GRCh37]
Chr1:1q21.3
likely benign
NM_000427.3(LORICRIN):c.175T>C (p.Tyr59His) single nucleotide variant Inborn genetic diseases [RCV003347701] Chr1:153261124 [GRCh38]
Chr1:153233600 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.632C>T (p.Ser211Leu) single nucleotide variant Inborn genetic diseases [RCV003372186] Chr1:153261581 [GRCh38]
Chr1:153234057 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q21.3(chr1:153097950-153481118)x3 copy number gain not provided [RCV003484039] Chr1:153097950..153481118 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.144T>C (p.Gly48=) single nucleotide variant not provided [RCV003569123] Chr1:153261093 [GRCh38]
Chr1:153233569 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.763G>T (p.Gly255Cys) single nucleotide variant not provided [RCV003409041] Chr1:153261712 [GRCh38]
Chr1:153234188 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.707G>A (p.Gly236Asp) single nucleotide variant not provided [RCV003696617] Chr1:153261656 [GRCh38]
Chr1:153234132 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.344C>T (p.Ser115Phe) single nucleotide variant not provided [RCV003712800] Chr1:153261293 [GRCh38]
Chr1:153233769 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000427.3(LORICRIN):c.466G>C (p.Val156Leu) single nucleotide variant not provided [RCV003547976] Chr1:153261415 [GRCh38]
Chr1:153233891 [GRCh37]
Chr1:1q21.3
benign
NM_000427.3(LORICRIN):c.728G>C (p.Ser243Thr) single nucleotide variant not provided [RCV003697275] Chr1:153261677 [GRCh38]
Chr1:153234153 [GRCh37]
Chr1:1q21.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:207
Count of miRNA genes:196
Interacting mature miRNAs:205
Transcripts:ENST00000368742
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.

Markers in Region
GDB:193281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,233,879 - 153,234,094UniSTSGRCh37
Build 361151,500,503 - 151,500,718RGDNCBI36
Celera1126,305,136 - 126,305,351RGD
Cytogenetic Map1q21UniSTS
HuRef1124,597,266 - 124,597,493UniSTS
SHGC-147038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,231,558 - 153,231,906UniSTSGRCh37
Build 361151,498,182 - 151,498,530RGDNCBI36
Celera1126,302,815 - 126,303,163RGD
Cytogenetic Map1q21UniSTS
HuRef1124,594,945 - 124,595,293UniSTS
TNG Radiation Hybrid Map168444.0UniSTS
RH17713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,234,413 - 153,234,581UniSTSGRCh37
Build 361151,501,037 - 151,501,205RGDNCBI36
Celera1126,305,670 - 126,305,838RGD
Cytogenetic Map1q21UniSTS
HuRef1124,597,812 - 124,597,980UniSTS
GeneMap99-GB4 RH Map1545.88UniSTS
NCBI RH Map11254.4UniSTS
D4S3344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,233,890 - 153,234,078UniSTSGRCh37
Build 361151,500,514 - 151,500,702RGDNCBI36
Celera1126,305,147 - 126,305,335RGD
Cytogenetic Map1q21UniSTS
HuRef1124,597,277 - 124,597,477UniSTS


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 1 1103 2 629
Medium 4 5 7 7 5 2 211 8 12 1 29 7 6 9 82 1
Low 974 1389 509 118 733 56 1624 875 2027 21 593 594 66 1 664 1222
Below cutoff 1071 1400 730 228 767 155 1145 1120 1397 104 548 619 73 482 790

Sequence


RefSeq Acc Id: ENST00000368742   ⟹   ENSP00000357731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,259,687 - 153,262,124 (+)Ensembl
RefSeq Acc Id: NM_000427   ⟹   NP_000418
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,259,687 - 153,262,124 (+)NCBI
GRCh371153,232,179 - 153,234,600 (+)ENTREZGENE
Build 361151,498,803 - 151,501,224 (+)NCBI Archive
HuRef1124,595,566 - 124,597,999 (+)ENTREZGENE
CHM1_11154,627,959 - 154,630,380 (+)NCBI
T2T-CHM13v2.01152,396,903 - 152,399,352 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000418   ⟸   NM_000427
- UniProtKB: Q5T869 (UniProtKB/Swiss-Prot),   Q5XKF8 (UniProtKB/Swiss-Prot),   P23490 (UniProtKB/Swiss-Prot),   Q6FHY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000357731   ⟸   ENST00000368742

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23490-F1-model_v2 AlphaFold P23490 1-312 view protein structure

Promoters
RGD ID:6785432
Promoter ID:HG_KWN:5163
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:ENST00000392652
Position:
Human AssemblyChrPosition (strand)Source
Build 361151,499,831 - 151,500,927 (+)MPROMDB
RGD ID:6857180
Promoter ID:EPDNEW_H1755
Type:single initiation site
Name:LOR_2
Description:loricrin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1737  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,259,687 - 153,259,747EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6663 AgrOrtholog
COSMIC LORICRIN COSMIC
Ensembl Genes ENSG00000203782 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368742 ENTREZGENE
  ENST00000368742.4 UniProtKB/Swiss-Prot
GTEx ENSG00000203782 GTEx
HGNC ID HGNC:6663 ENTREZGENE
Human Proteome Map LORICRIN Human Proteome Map
InterPro Loricrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4014 UniProtKB/Swiss-Prot
NCBI Gene 4014 ENTREZGENE
OMIM 152445 OMIM
PANTHER LORICRIN UniProtKB/Swiss-Prot
  LORICRIN UniProtKB/TrEMBL
  LORICRIN UniProtKB/TrEMBL
  PTHR39228 UniProtKB/Swiss-Prot
Pfam Loricrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS EGGSHELL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
UniProt LORI_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T869 ENTREZGENE
  Q5XKF8 ENTREZGENE
  Q6FHY3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q5T869 UniProtKB/Swiss-Prot
  Q5XKF8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-10-22 LORICRIN  loricrin cornified envelope precursor protein  LOR  loricrin  Symbol and/or name change 5135510 APPROVED