LORICRIN (loricrin cornified envelope precursor protein)

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Gene: LORICRIN (loricrin cornified envelope precursor protein) Homo sapiens

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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 and peptide cross-linking. Located in cornified envelope and cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

LOR; MGC111513

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	153,259,687 - 153,262,124 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	153,259,687 - 153,262,124 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	153,232,163 - 153,234,600 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	151,498,803 - 151,501,224 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	150,046,475 - 150,047,671	NCBI
Celera	1	126,303,436 - 126,305,857 (+)	NCBI		Celera
Cytogenetic Map	1	q21.3	NCBI
HuRef	1	124,595,566 - 124,597,999 (+)	NCBI		HuRef
CHM1_1	1	154,627,959 - 154,630,380 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	152,396,903 - 152,399,352 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

gastrointestinal stromal tumor (IAGP)

immunodeficiency 42 (IAGP)

MHC class II deficiency (IAGP)

parathyroid carcinoma (IAGP)

severe congenital neutropenia 3 (IAGP)

severe congenital neutropenia 5 (IAGP)

Skin Neoplasms (EXP)

squamous cell carcinoma (EXP)

Vohwinkel Syndrome, Variant Form (EXP,IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4-(ethoxymethylene)-2-phenyloxazol-5-one (ISO)

all-trans-retinoic acid (EXP,ISO)

antimonite (EXP)

arsenite(3-) (EXP)

avobenzone (EXP)

benzo[a]pyrene (EXP)

benzo[b]fluoranthene (ISO)

beta-damascenone (ISO)

beta-naphthoflavone (EXP)

bis(2-chloroethyl) sulfide (EXP)

bisphenol A (ISO)

calcium atom (EXP)

calcium(0) (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chrysene (ISO)

ciguatoxin CTX1B (ISO)

clofibrate (ISO)

copper atom (EXP)

copper(0) (EXP)

cortisol (EXP)

dibutyl phthalate (ISO)

dichloroacetic acid (ISO)

diethylstilbestrol (ISO)

dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate (EXP)

disulfiram (EXP)

hydroquinone (EXP,ISO)

maneb (ISO)

methylisothiazolinone (EXP)

Monobutylphthalate (ISO)

paracetamol (ISO)

paraquat (ISO)

perfluoroheptanoic acid (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorohexanoic acid (ISO)

perfluorooctanoic acid (ISO)

perfluoropentanoic acid (ISO)

pirinixic acid (ISO)

SB 203580 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

sodium dodecyl sulfate (EXP)

tetrachloromethane (ISO)

triclosan (EXP)

trimellitic anhydride (ISO)

triptonide (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cytoskeleton organization (IEA)

keratinization (IEA)

keratinocyte differentiation (IDA)

peptide cross-linking (IDA)

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

protein binding (IPI)

structural constituent of cytoskeleton (TAS)

structural constituent of skin epidermis (IBA,IDA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal hair morphology (IAGP)

Abnormality of the nervous system (IAGP)

Alopecia (IAGP)

Amniotic constriction ring (IAGP)

Autosomal dominant inheritance (IAGP)

Congenital nonbullous ichthyosiform erythroderma (IAGP)

Digital constriction ring (IAGP)

Epidermal acanthosis (IAGP)

Erythema (IAGP)

Gastrointestinal stroma tumor (IAGP)

Generalized ichthyosis (IAGP)

Honeycomb palmoplantar hyperkeratosis (IAGP)

Hypergranulosis (IAGP)

Hyperkeratosis (IAGP)

Knuckle pad (IAGP)

Nail dystrophy (IAGP)

Onychogryposis (IAGP)

Orthokeratosis (IAGP)

Palmoplantar hyperkeratosis (IAGP)

Palmoplantar keratoderma (IAGP)

Parakeratosis (IAGP)

Parathyroid carcinoma (IAGP)

Scaling skin on fingertip (IAGP)

Sensorineural hearing impairment (IAGP)

Skin plaque (IAGP)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	153,259,687 - 153,262,124 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	153,259,687 - 153,262,124 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	153,232,163 - 153,234,600 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	151,498,803 - 151,501,224 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	150,046,475 - 150,047,671	NCBI
Celera	1	126,303,436 - 126,305,857 (+)	NCBI		Celera
Cytogenetic Map	1	q21.3	NCBI
HuRef	1	124,595,566 - 124,597,999 (+)	NCBI		HuRef
CHM1_1	1	154,627,959 - 154,630,380 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	152,396,903 - 152,399,352 (+)	NCBI		T2T-CHM13v2.0

Loricrin
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	91,987,578 - 91,990,447 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	91,987,578 - 91,990,449 (-)	Ensembl		GRCm39 Ensembl
GRCm38	3	92,080,271 - 92,083,142 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	92,080,271 - 92,083,142 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	91,884,193 - 91,887,064 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	92,166,209 - 92,169,067 (-)	NCBI		MGSCv36	mm8
Celera	3	92,123,831 - 92,126,702 (-)	NCBI		Celera
Cytogenetic Map	3	F1	NCBI
cM Map	3	40.14	NCBI

Loricrin
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	180,253,674 - 180,256,572 (-)	NCBI		GRCr8
mRatBN7.2	2	177,558,062 - 177,560,960 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	177,558,252 - 177,559,807 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	185,120,471 - 185,123,369 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	183,102,235 - 183,105,133 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	177,763,534 - 177,766,432 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	191,984,455 - 191,990,713 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	191,984,773 - 191,986,170 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	212,877,186 - 212,882,693 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	184,953,538 - 184,955,283 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	2	172,680,893 - 172,687,160 (+)	NCBI		Celera
Cytogenetic Map	2	q34	NCBI

Loricrin
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955592	167,139 - 169,638 (-)	NCBI	ChiLan1.0	ChiLan1.0

LORICRIN
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	96,580,323 - 96,581,568 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	96,315,995 - 96,317,311 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	128,607,506 - 128,608,808 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

LORICRIN
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	17	61,994,297 - 61,995,591 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	17	61,460,176 - 61,463,150 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	17	63,144,507 - 63,147,606 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	17	61,893,634 - 61,896,464 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	17	61,944,715 - 61,947,725 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	17	62,703,311 - 62,706,427 (+)	NCBI		UU_Cfam_GSD_1.0

LORICRIN
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	96,304,070 - 96,305,110 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	96,303,835 - 96,308,016 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	105,206,034 - 105,209,187 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LORICRIN
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	10,494,570 - 10,497,944 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666038	9,966,739 - 9,968,274 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Loricrin
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624885	675,955 - 677,391 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in LORICRIN
47 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	not specified [RCV004300197]	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	not specified [RCV004309827]	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]\|not specified [RCV004029388]	Chr1:153261823 [GRCh38] Chr1:153234299 [GRCh37] Chr1:1q21.3	likely benign\|uncertain significance
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	not specified [RCV004302302]	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 [RCV004704486]	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]\|not specified [RCV004034233]	Chr1:153261221 [GRCh38] Chr1:153233697 [GRCh37] Chr1:1q21.3	likely benign\|uncertain significance
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	Loricrin keratoderma [RCV003994468]\|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]\|not specified [RCV004066969]	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	not specified [RCV004263125]	Chr1:153261226 [GRCh38] Chr1:153233702 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.253G>C (p.Gly85Arg)	single nucleotide variant	not specified [RCV004257309]	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	not specified [RCV004260258]	Chr1:153261755 [GRCh38] Chr1:153234231 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.67G>A (p.Gly23Ser)	single nucleotide variant	not specified [RCV004272873]	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	not specified [RCV004340499]	Chr1:153261124 [GRCh38] Chr1:153233600 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.632C>T (p.Ser211Leu)	single nucleotide variant	not specified [RCV004365543]	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]\|not specified [RCV004364481]	Chr1:153261712 [GRCh38] Chr1:153234188 [GRCh37] Chr1:1q21.3	benign\|uncertain significance
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]\|not specified [RCV004371891]	Chr1:153261677 [GRCh38] Chr1:153234153 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.190T>G (p.Cys64Gly)	single nucleotide variant	not provided [RCV003839087]	Chr1:153261139 [GRCh38] Chr1:153233615 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.351_440del (p.Ser121_Gly150del)	deletion	not provided [RCV003724305]	Chr1:153261271..153261360 [GRCh38] Chr1:153233747..153233836 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.439G>T (p.Gly147Cys)	single nucleotide variant	not provided [RCV003734757]	Chr1:153261388 [GRCh38] Chr1:153233864 [GRCh37] Chr1:1q21.3	likely benign
NM_000427.3(LORICRIN):c.82G>A (p.Gly28Ser)	single nucleotide variant	not provided [RCV003719295]	Chr1:153261031 [GRCh38] Chr1:153233507 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.835GGC[7] (p.Gly283_Ser284insGlyGly)	microsatellite	not provided [RCV003553371]	Chr1:153261783..153261784 [GRCh38] Chr1:153234259..153234260 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.719G>A (p.Cys240Tyr)	single nucleotide variant	not provided [RCV003859893]	Chr1:153261668 [GRCh38] Chr1:153234144 [GRCh37] Chr1:1q21.3	uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	copy number gain	not specified [RCV003986717]	Chr1:144368497..158992086 [GRCh37] Chr1:1q21.1-23.1	pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	copy number gain	not specified [RCV003987261]	Chr1:146577511..157155587 [GRCh37] Chr1:1q21.1-23.1	pathogenic
NM_000427.3(LORICRIN):c.275_276insCGGCGGCGGCTCCTCCGG (p.Gly100_Ser101insGlySerSerGlyGlyGly)	insertion	not provided [RCV003728262]	Chr1:153261218..153261219 [GRCh38] Chr1:153233694..153233695 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.586T>G (p.Cys196Gly)	single nucleotide variant	not provided [RCV003844832]	Chr1:153261535 [GRCh38] Chr1:153234011 [GRCh37] Chr1:1q21.3	benign
NM_000427.3(LORICRIN):c.115G>C (p.Gly39Arg)	single nucleotide variant	not specified [RCV004410386]	Chr1:153261064 [GRCh38] Chr1:153233540 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.121G>T (p.Gly41Cys)	single nucleotide variant	not specified [RCV004410387]	Chr1:153261070 [GRCh38] Chr1:153233546 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.230T>C (p.Ile77Thr)	single nucleotide variant	not specified [RCV004410388]	Chr1:153261179 [GRCh38] Chr1:153233655 [GRCh37] Chr1:1q21.3	likely benign
NM_000427.3(LORICRIN):c.260G>A (p.Ser87Asn)	single nucleotide variant	not specified [RCV004410389]	Chr1:153261209 [GRCh38] Chr1:153233685 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.271T>A (p.Ser91Thr)	single nucleotide variant	not specified [RCV004410390]	Chr1:153261220 [GRCh38] Chr1:153233696 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.425G>A (p.Gly142Asp)	single nucleotide variant	not specified [RCV004410395]	Chr1:153261374 [GRCh38] Chr1:153233850 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.305G>C (p.Gly102Ala)	single nucleotide variant	not specified [RCV004410391]	Chr1:153261254 [GRCh38] Chr1:153233730 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.358G>A (p.Gly120Ser)	single nucleotide variant	not specified [RCV004410392]	Chr1:153261307 [GRCh38] Chr1:153233783 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.362C>T (p.Ser121Phe)	single nucleotide variant	not specified [RCV004410393]	Chr1:153261311 [GRCh38] Chr1:153233787 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.557T>G (p.Val186Gly)	single nucleotide variant	not specified [RCV004410396]	Chr1:153261506 [GRCh38] Chr1:153233982 [GRCh37] Chr1:1q21.3	likely benign
NM_000427.3(LORICRIN):c.589G>A (p.Gly197Ser)	single nucleotide variant	not specified [RCV004410397]	Chr1:153261538 [GRCh38] Chr1:153234014 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.698G>A (p.Gly233Asp)	single nucleotide variant	not specified [RCV004410398]	Chr1:153261647 [GRCh38] Chr1:153234123 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.737G>A (p.Gly246Asp)	single nucleotide variant	not specified [RCV004410399]	Chr1:153261686 [GRCh38] Chr1:153234162 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.851C>T (p.Ser284Phe)	single nucleotide variant	not specified [RCV004410400]	Chr1:153261800 [GRCh38] Chr1:153234276 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.863G>T (p.Gly288Val)	single nucleotide variant	not specified [RCV004410401]	Chr1:153261812 [GRCh38] Chr1:153234288 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.896A>C (p.His299Pro)	single nucleotide variant	not specified [RCV004410402]	Chr1:153261845 [GRCh38] Chr1:153234321 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.919C>G (p.Pro307Ala)	single nucleotide variant	not specified [RCV004410403]	Chr1:153261868 [GRCh38] Chr1:153234344 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.932C>T (p.Ser311Phe)	single nucleotide variant	not specified [RCV004410404]	Chr1:153261881 [GRCh38] Chr1:153234357 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.424G>C (p.Gly142Arg)	single nucleotide variant	not specified [RCV004410394]	Chr1:153261373 [GRCh38] Chr1:153233849 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.142G>T (p.Gly48Cys)	single nucleotide variant	not specified [RCV004637340]	Chr1:153261091 [GRCh38] Chr1:153233567 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.639G>C (p.Gln213His)	single nucleotide variant	not specified [RCV004634064]	Chr1:153261588 [GRCh38] Chr1:153234064 [GRCh37] Chr1:1q21.3	uncertain significance
NM_000427.3(LORICRIN):c.103G>A (p.Gly35Ser)	single nucleotide variant	not specified [RCV004637339]	Chr1:153261052 [GRCh38] Chr1:153233528 [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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1357381	BW57_H	Body weight QTL 57 (human)	1	0.0001	Body weight	fat free mass after exercise training	1	140630236	166630236	Human

Markers in Region

GDB:193281

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	153,233,879 - 153,234,094	UniSTS	GRCh37
Build 36	1	151,500,503 - 151,500,718	RGD	NCBI36
Celera	1	126,305,136 - 126,305,351	RGD
Cytogenetic Map	1	q21	UniSTS
HuRef	1	124,597,266 - 124,597,493	UniSTS

SHGC-147038

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	153,231,558 - 153,231,906	UniSTS	GRCh37
Build 36	1	151,498,182 - 151,498,530	RGD	NCBI36
Celera	1	126,302,815 - 126,303,163	RGD
Cytogenetic Map	1	q21	UniSTS
HuRef	1	124,594,945 - 124,595,293	UniSTS
TNG Radiation Hybrid Map	1	68444.0	UniSTS

RH17713

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	153,234,413 - 153,234,581	UniSTS	GRCh37
Build 36	1	151,501,037 - 151,501,205	RGD	NCBI36
Celera	1	126,305,670 - 126,305,838	RGD
Cytogenetic Map	1	q21	UniSTS
HuRef	1	124,597,812 - 124,597,980	UniSTS
GeneMap99-GB4 RH Map	1	545.88	UniSTS
NCBI RH Map	1	1254.4	UniSTS

D4S3344

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	153,233,890 - 153,234,078	UniSTS	GRCh37
Build 36	1	151,500,514 - 151,500,702	RGD	NCBI36
Celera	1	126,305,147 - 126,305,335	RGD
Cytogenetic Map	1	q21	UniSTS
HuRef	1	124,597,277 - 124,597,477	UniSTS

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_011818	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024447049	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB013076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL161636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034690	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC108290	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR536555	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M61120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M94077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000368742 ⟹ ENSP00000357731

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	153,259,687 - 153,262,124 (+)	Ensembl

RefSeq Acc Id:

NM_000427 ⟹ NP_000418

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	153,259,687 - 153,262,124 (+)	NCBI
GRCh37	1	153,232,179 - 153,234,600 (+)	ENTREZGENE
Build 36	1	151,498,803 - 151,501,224 (+)	NCBI Archive
HuRef	1	124,595,566 - 124,597,999 (+)	ENTREZGENE
CHM1_1	1	154,627,959 - 154,630,380 (+)	NCBI
T2T-CHM13v2.0	1	152,396,903 - 152,399,352 (+)	NCBI

Sequence:

show sequence

ACATTGCCAGCATCTTCTCTCCTCACTCACCCTTCCTGGTGCTTTGGGCTCTCCTTCCTTCTCA
GACAAGATGTCTTATCAGAAAAAGCAGCCCACCCCTCAGCCCCCAGTGGACTGCGTGAAGACCT
CTGGCGGCGGTGGCGGTGGCGGCGGCAGCGGCGGTGGTGGCTGCGGCTTCTTCGGCGGCGGCGG
CTCAGGGGGCGGTAGCAGCGGTTCTGGCTGCGGCTACTCCGGCGGCGGTGGCTACTCTGGCGGC
GGCTGCGGCGGGGGCTCCTCCGGCGGCGGGGGCGGGGGCGGCATTGGAGGCTGCGGAGGGGGCT
CCGGTGGGAGCGTCAAGTACTCCGGAGGCGGCGGCTCCTCCGGCGGGGGCTCTGGCTGTTTCTC
CAGCGGTGGGGGCGGCTCCGGCTGCTTCTCCTCCGGTGGCGGCGGCTCCTCCGGGGGCGGCTCC
GGCTGCTTCTCCAGCGGTGGGGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCTCCGGCG
GCGGCGGCTTCTCGGGCCAGGCGGTCCAGTGCCAGAGCTACGGAGGCGTCTCTAGCGGCGGCTC
CTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGCGGGGGCGGCGGCTCTGTCTGCGGCTACTCT
GGCGGCGGCTCTGGCTGCGGCGGAGGCTCCTCTGGCGGCAGCGGCTCCGGCTACGTCTCCTCGC
AGCAGGTCACTCAGACCTCGTGCGCGCCCCAGCCGAGTTACGGAGGGGGGTCGTCCGGCGGCGG
CGGCAGCGGCGGAAGCGGCTGCTTCTCCAGCGGCGGGGGCGGCGGGAGCTCCGGCTGCGGCGGC
GGCTCCTCCGGGATTGGCAGCGGCTGCATCATCAGTGGCGGGGGCTCCGTCTGCGGAGGTGGTT
CCTCTGGAGGCGGCGGCGGCGGCTCCTCCGTGGGTGGCTCCGGGAGTGGCAAGGGCGTCCCGAT
CTGCCACCAGACCCAGCAGAAGCAGGCGCCTACCTGGCCGTCCAAATAGATCCCCCAGGGTACC
ACGGAGGCGAAGGAGTTGGAGGTGTTTTCCAGGGGCACCGATGGGCTTAGAGCTCTCATGATGC
TACCCGAGGTTTGCAAATCCTTCATGTCTTAACCTACCTGGAAGAAGCCATTGAGCTCTCCGGC
TGCATCTAGTTCTGCTGTTTAGCCTCTTTGGTTTCTGTACAACTACCTCCCAACCCCAGTGCCT
CAGTCAATAAATTTGCAAATTCATGAGAA

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Protein Sequences


Protein RefSeqs	NP_000418	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA36180	(Get FASTA)	NCBI Sequence Viewer
	AAA36181	(Get FASTA)	NCBI Sequence Viewer
	AAH34690	(Get FASTA)	NCBI Sequence Viewer
	AAI08291	(Get FASTA)	NCBI Sequence Viewer
	BAA25794	(Get FASTA)	NCBI Sequence Viewer
	CAG38792	(Get FASTA)	NCBI Sequence Viewer
	EAW53339	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000357731
	ENSP00000357731.3
GenBank Protein	P23490	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_000418 ⟸ NM_000427

- UniProtKB:

Q5T869 (UniProtKB/Swiss-Prot), Q5XKF8 (UniProtKB/Swiss-Prot), P23490 (UniProtKB/Swiss-Prot), Q6FHY3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSYQKKQPTPQPPVDCVKTSGGGGGGGGSGGGGCGFFGGGGSGGGSSGSGCGYSGGGGYSGGGC
GGGSSGGGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSGCFSSGGGGSGCFSSGGGGSSGGGSGC
FSSGGGGSSGGGSGCFSSGGGGFSGQAVQCQSYGGVSSGGSSGGGSGCFSSGGGGGSVCGYSGG
GSGCGGGSSGGSGSGYVSSQQVTQTSCAPQPSYGGGSSGGGGSGGSGCFSSGGGGGSSGCGGGS
SGIGSGCIISGGGSVCGGGSSGGGGGGSSVGGSGSGKGVPICHQTQQKQAPTWPSK

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Ensembl 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 Assembly	Chr	Position (strand)	Source
Build 36	1	151,499,831 - 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 Assembly	Chr	Position (strand)	Source
GRCh38	1	153,259,687 - 153,259,747	EPDNEW

Additional Information

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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