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Protein

Lipase member N

Gene

LIPN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei173NucleophileBy similarity1
Active sitei344Charge relay systemPROSITE-ProRule annotation1
Active sitei373Charge relay systemPROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope

Protein family/group databases

ESTHERihuman-LIPN Acidic_Lipase

Names & Taxonomyi

Protein namesi
Recommended name:
Lipase member N (EC:3.1.1.-)
Alternative name(s):
Lipase-like abhydrolase domain-containing protein 4
Gene namesi
Name:LIPN
Synonyms:LIPL4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000204020.5
HGNCiHGNC:23452 LIPN
MIMi613924 gene
neXtProtiNX_Q5VXI9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 8 (ARCI8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
See also OMIM:613943

Keywords - Diseasei

Ichthyosis

Organism-specific databases

DisGeNETi643418
MalaCardsiLIPN
MIMi613943 phenotype
OpenTargetsiENSG00000204020
Orphaneti313 Lamellar ichthyosis
PharmGKBiPA162394123

Polymorphism and mutation databases

BioMutaiLIPN
DMDMi147647785

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000028683119 – 398Lipase member NAdd BLAST380

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi247 ↔ 256By similarity
Glycosylationi272N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ5VXI9
PeptideAtlasiQ5VXI9
PRIDEiQ5VXI9
ProteomicsDBi65596

Expressioni

Tissue specificityi

Highly expressed in the epidermis in the granular keratinocytes. Also detected in other tissues, although at much lower levels, including lung and spleen.2 Publications

Developmental stagei

Up-regulated during epidermal differentiation.1 Publication

Gene expression databases

BgeeiENSG00000204020
CleanExiHS_LIPN

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000383923

Structurei

3D structure databases

ProteinModelPortaliQ5VXI9
SMRiQ5VXI9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini79 – 379AB hydrolase-1Sequence analysisAdd BLAST301

Sequence similaritiesi

Belongs to the AB hydrolase superfamily. Lipase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2624 Eukaryota
COG0596 LUCA
GeneTreeiENSGT00550000074328
HOGENOMiHOG000240694
HOVERGENiHBG006265
InParanoidiQ5VXI9
OMAiMQHALFA
OrthoDBiEOG091G09AX
PhylomeDBiQ5VXI9
TreeFamiTF315485

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR000073 AB_hydrolase_1
IPR025483 Lipase_euk
PfamiView protein in Pfam
PF00561 Abhydrolase_1, 1 hit
PIRSFiPIRSF000862 Steryl_ester_lip, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
PROSITEiView protein in PROSITE
PS00120 LIPASE_SER, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q5VXI9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMWLLLTTTC LICGTLNAGG FLDLENEVNP EVWMNTSEII IYNGYPSEEY
60 70 80 90 100
EVTTEDGYIL LVNRIPYGRT HARSTGPRPV VYMQHALFAD NAYWLENYAN
110 120 130 140 150
GSLGFLLADA GYDVWMGNSR GNTWSRRHKT LSETDEKFWA FSFDEMAKYD
160 170 180 190 200
LPGVIDFIVN KTGQEKLYFI GHSLGTTIGF VAFSTMPELA QRIKMNFALG
210 220 230 240 250
PTISFKYPTG IFTRFFLLPN SIIKAVFGTK GFFLEDKKTK IASTKICNNK
260 270 280 290 300
ILWLICSEFM SLWAGSNKKN MNQSRMDVYM SHAPTGSSVH NILHIKQLYH
310 320 330 340 350
SDEFRAYDWG NDADNMKHYN QSHPPIYDLT AMKVPTAIWA GGHDVLVTPQ
360 370 380 390
DVARILPQIK SLHYFKLLPD WNHFDFVWGL DAPQRMYSEI IALMKAYS
Length:398
Mass (Da):45,534
Last modified:May 15, 2007 - v2
Checksum:i0EE99ED08A5F5978
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032192244T → N. Corresponds to variant dbSNP:rs10788611Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EF426483 mRNA Translation: ABR08388.1
AL358532 Genomic DNA No translation available.
CCDSiCCDS44456.1
RefSeqiNP_001095939.1, NM_001102469.1
XP_005270106.1, XM_005270049.3
XP_011538385.1, XM_011540083.2
XP_011538386.1, XM_011540084.2
UniGeneiHs.632091

Genome annotation databases

EnsembliENST00000404459; ENSP00000383923; ENSG00000204020
GeneIDi643418
KEGGihsa:643418
UCSCiuc010qmw.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLIPN_HUMAN
AccessioniPrimary (citable) accession number: Q5VXI9
Secondary accession number(s): A7KIH9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: June 20, 2018
This is version 106 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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