Gene/Proteome Database (LMPD)

LMPD ID
LMP006670
Gene ID
285848
Species
Homo sapiens (Human)
Gene Name
patatin-like phospholipase domain containing 1
Gene Symbol
PNPLA1
Synonyms
ARCI10; dJ50J22.1
Chromosome
6
Map Location
6p21.31
EC Number
3.1.1.-
Summary
The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Orthologs
View orthologs and multiple alignments for PNPLA1

Proteins

patatin-like phospholipase domain-containing protein 1 isoform 1
Refseq ID NP_775947
Protein GI 224593249
UniProt ID Q8N8W4
mRNA ID NM_173676
Length 437
RefSeq Status REVIEWED
MVQMMRQFLYRVLPEDSYKVTTGKLHVSLTRLTDGENVVVSEFTSKEELIEALYCSCFVPVYCGLIPPTYRGVRYIDGGFTGMQPCAFWTDAITISTFSGQQDICPRDCPAIFHDFRMFNCSFQFSLENIARMTHALFPPDLVILHDYYYRGYEDAVLYLRRLNAVYLNSSSKRVIFPRVEVYCQIELALGNECPERSQPSLRARQASLEGATQPHKEWVPKGDGRGSHGPPVSQPVQTLEFTCESPVSAPVSPLEQPPAQPLASSTPLSLSGMPPVSFPAVHKPPSSTPGSSLPTPPPGLSPLSPQQQVQPSGSPARSLHSQAPTSPRPSLGPSTVGAPQTLPRSSLSAFPAQPPVEELGQEQPQAVALLVSSKPKSAVPLVHVKETVSKPYVTESPAEDSNWVNKVFKKNKQKTSGTRKGFPRHSGSKKPSSKVQ
patatin-like phospholipase domain-containing protein 1 isoform 2
Refseq ID NP_001139188
Protein GI 224589138
UniProt ID Q8N8W4
mRNA ID NM_001145716
Length 446
RefSeq Status REVIEWED
MVQMMRQFLYRVLPEDSYKVTTGKLHVSLTRLTDGENVVVSEFTSKEELIEALYCSCFVPVYCGLIPPTYRGVWAFLTLPPQRYIDGGFTGMQPCAFWTDAITISTFSGQQDICPRDCPAIFHDFRMFNCSFQFSLENIARMTHALFPPDLVILHDYYYRGYEDAVLYLRRLNAVYLNSSSKRVIFPRVEVYCQIELALGNECPERSQPSLRARQASLEGATQPHKEWVPKGDGRGSHGPPVSQPVQTLEFTCESPVSAPVSPLEQPPAQPLASSTPLSLSGMPPVSFPAVHKPPSSTPGSSLPTPPPGLSPLSPQQQVQPSGSPARSLHSQAPTSPRPSLGPSTVGAPQTLPRSSLSAFPAQPPVEELGQEQPQAVALLVSSKPKSAVPLVHVKETVSKPYVTESPAEDSNWVNKVFKKNKQKTSGTRKGFPRHSGSKKPSSKVQ
patatin-like phospholipase domain-containing protein 1 isoform 3
Refseq ID NP_001139189
Protein GI 238776840
UniProt ID Q8N8W4
mRNA ID NM_001145717
Length 532
RefSeq Status REVIEWED
MEEQVFKGDPDTPHSISFSGSGFLSFYQAGAVDALRDLAPRMLETAHRFAGTSAGAVIAALAICGIEMDEYLRVLNVGVAEVKKSFLGPLSPSCKMVQMMRQFLYRVLPEDSYKVTTGKLHVSLTRLTDGENVVVSEFTSKEELIEALYCSCFVPVYCGLIPPTYRGVRYIDGGFTGMQPCAFWTDAITISTFSGQQDICPRDCPAIFHDFRMFNCSFQFSLENIARMTHALFPPDLVILHDYYYRGYEDAVLYLRRLNAVYLNSSSKRVIFPRVEVYCQIELALGNECPERSQPSLRARQASLEGATQPHKEWVPKGDGRGSHGPPVSQPVQTLEFTCESPVSAPVSPLEQPPAQPLASSTPLSLSGMPPVSFPAVHKPPSSTPGSSLPTPPPGLSPLSPQQQVQPSGSPARSLHSQAPTSPRPSLGPSTVGAPQTLPRSSLSAFPAQPPVEELGQEQPQAVALLVSSKPKSAVPLVHVKETVSKPYVTESPAEDSNWVNKVFKKNKQKTSGTRKGFPRHSGSKKPSSKVQ

Gene Information

Entrez Gene ID
285848
Gene Name
patatin-like phospholipase domain containing 1
Gene Symbol
PNPLA1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IDA:UniProtKB C cytoplasm
GO:0016787 IEA:UniProtKB-KW F hydrolase activity
GO:0016042 IEA:UniProtKB-KW P lipid catabolic process

Domain Information

InterPro Annotations

Accession Description
IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
IPR002641 Patatin/Phospholipase A2-related

UniProt Annotations

Entry Information

Gene Name
patatin-like phospholipase domain containing 1
Protein Entry
PLPL1_HUMAN
UniProt ID
Q8N8W4
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N8W4-1; Sequence=Displayed; Name=2; IsoId=Q8N8W4-2; Sequence=VSP_026371; Note=Inactive.; Name=3; IsoId=Q8N8W4-3; Sequence=VSP_026371, VSP_026372; Note=Inactive. No experimental confirmation available.;
Disease Ichthyosis, congenital, autosomal recessive 10 (ARCI10) [MIM
Function Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism.
Sequence Caution Sequence=CAI21612.2; Type=Erroneous gene model prediction; Evidence= ;
Similarity Contains 1 patatin domain.
Subcellular Location Cytoplasm . Note=Clearly distributed in the cytoplasm of keratinocytes.
Tissue Specificity Expressed in the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filament bundles, which is more pronounced in upper epidermal layers and in the lower cornified layers. {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP006670 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
224593249 RefSeq NP_775947 437 patatin-like phospholipase domain-containing protein 1 isoform 1
224589138 RefSeq NP_001139188 446 patatin-like phospholipase domain-containing protein 1 isoform 2
238776840 RefSeq NP_001139189 532 patatin-like phospholipase domain-containing protein 1 isoform 3

Identical Sequences to LMP006670 proteins

Reference Database Accession Length Protein Name
GI:238776840 GenBank ACJ70710.1 532 patatin-like phospholipase 1 [Homo sapiens]
GI:238776840 SwissProt Q8N8W4.3 532 RecName: Full=Patatin-like phospholipase domain-containing protein 1 [Homo sapiens]

Related Sequences to LMP006670 proteins

Reference Database Accession Length Protein Name
GI:238776840 EMBL CAJ58679.1 533 patatin-like phospholipase domian containing 1 [Homo sapiens]
GI:224593249 GenBank AAI03907.1 437 Patatin-like phospholipase domain containing 1 [Homo sapiens]
GI:224589138 GenBank AAI03906.1 446 PNPLA1 protein [Homo sapiens]
GI:224593249 GenBank EAX03883.1 437 patatin-like phospholipase domain containing 1 [Homo sapiens]
GI:224593249 GenBank ACJ70710.1 532 patatin-like phospholipase 1 [Homo sapiens]
GI:224593249 GenBank ADS46319.1 437 Sequence 61 from patent US 7799530
GI:224589138 GenBank AIC58126.1 446 PNPLA1, partial [synthetic construct]
GI:224589138 RefSeq NP_775947.2 437 patatin-like phospholipase domain-containing protein 1 isoform 1 [Homo sapiens]
GI:224593249 RefSeq NP_001139189.2 532 patatin-like phospholipase domain-containing protein 1 isoform 3 [Homo sapiens]
GI:238776840 RefSeq XP_002816852.1 532 PREDICTED: patatin-like phospholipase domain-containing protein 1 isoform X1 [Pongo abelii]
GI:238776840 RefSeq XP_003278917.1 532 PREDICTED: patatin-like phospholipase domain-containing protein 1 isoform 1 [Nomascus leucogenys]
GI:238776840 RefSeq XP_001172868.2 532 PREDICTED: patatin-like phospholipase domain-containing protein 1 isoform X1 [Pan troglodytes]
GI:238776840 RefSeq XP_003818958.1 532 PREDICTED: patatin-like phospholipase domain-containing protein 1 isoform X1 [Pan paniscus]
GI:238776840 RefSeq XP_004043938.1 532 PREDICTED: patatin-like phospholipase domain-containing protein 1 isoform 2 [Gorilla gorilla gorilla]
GI:224589138 RefSeq XP_004043939.1 446 PREDICTED: patatin-like phospholipase domain-containing protein 1 isoform 3 [Gorilla gorilla gorilla]
GI:224589138 RefSeq XP_004043941.1 446 PREDICTED: patatin-like phospholipase domain-containing protein 1 isoform 5 [Gorilla gorilla gorilla]
GI:224589138 RefSeq XP_008970569.1 446 PREDICTED: patatin-like phospholipase domain-containing protein 1 isoform X2 [Pan paniscus]
GI:224593249 SwissProt Q8N8W4.3 532 RecName: Full=Patatin-like phospholipase domain-containing protein 1 [Homo sapiens]