LIPN lipase family member N [Homo sapiens (human)] - Gene

Summary

Official Symbol: LIPNprovided by HGNC
Official Full Name: lipase family member Nprovided by HGNC
Primary source: HGNC:HGNC:23452
See related: Ensembl:ENSG00000204020 MIM:613924; AllianceGenome:HGNC:23452
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LI4; ARCI8; LIPL4; bA186O14.3
Summary: The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]
Expression: Biased expression in skin (RPKM 5.7), appendix (RPKM 0.9) and 1 other tissue See more
Orthologs: all
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Genomic context

Location:: 10q23.31

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (88757226..88779626)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (89641224..89663572)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (90519777..90539383)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

describe a late-onset form of recessive ichthyosis in a large consanguineous pedigree with a 2 bp deletion in LIPN that segregated with the disease phenotype throughout the family
Title: A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive congenital ichthyosis 8 MedGen: C3553029 OMIM: 613943 GeneReviews: Autosomal Recessive Congenital Ichthyosis	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipoprotein lipase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in cornification	TAS Traceable Author Statement more info
involved_in lipid catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: lipase member N

Names: lipase-like abhydrolase domain-containing protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_031911.1 RefSeqGene

Range

3615..23221

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001102469.2 → NP_001095939.1 lipase member N precursor

See identical proteins and their annotated locations for NP_001095939.1

Status: REVIEWED

Source sequence(s)

AL358532

Consensus CDS

CCDS44456.1

UniProtKB/Swiss-Prot

A7KIH9, Q5VXI9

Related

ENSP00000383923.1, ENST00000404459.2

Conserved Domains (4) summary

pfam00561
Location:79 → 379

Abhydrolase_1; alpha/beta hydrolase fold

pfam04083
Location:36 → 97

Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

pfam12695
Location:322 → 374

Abhydrolase_5; Alpha/beta hydrolase family

cl21494
Location:149 → 234

Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

88757226..88779626

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005270049.4 → XP_005270106.1 lipase member N isoform X1

See identical proteins and their annotated locations for XP_005270106.1

UniProtKB/Swiss-Prot

A7KIH9, Q5VXI9

Conserved Domains (4) summary

pfam00561
Location:79 → 379

Abhydrolase_1; alpha/beta hydrolase fold

pfam04083
Location:36 → 97

Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

pfam12695
Location:322 → 374

Abhydrolase_5; Alpha/beta hydrolase family

cl21494
Location:149 → 234

Abhydrolase; alpha/beta hydrolases
XM_011540084.3 → XP_011538386.1 lipase member N isoform X1

See identical proteins and their annotated locations for XP_011538386.1

UniProtKB/Swiss-Prot

A7KIH9, Q5VXI9

Conserved Domains (4) summary

pfam00561
Location:79 → 379

Abhydrolase_1; alpha/beta hydrolase fold

pfam04083
Location:36 → 97

Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

pfam12695
Location:322 → 374

Abhydrolase_5; Alpha/beta hydrolase family

cl21494
Location:149 → 234

Abhydrolase; alpha/beta hydrolases
XM_047425642.1 → XP_047281598.1 lipase member N isoform X1

UniProtKB/Swiss-Prot

A7KIH9, Q5VXI9
XM_047425643.1 → XP_047281599.1 lipase member N isoform X2
XM_047425644.1 → XP_047281600.1 lipase member N isoform X3
XM_017016549.2 → XP_016872038.1 lipase member N isoform X4