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Entry version 157 (16 Oct 2019)
Sequence version 1 (01 Aug 1992)
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Protein

Ceramide synthase 1

Gene

CERS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA).4 Publications

Miscellaneous

This protein is produced by a bicistronic gene which also produces the GDF1 protein from a non-overlapping reading frame.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by fumonisin B1.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: sphingolipid metabolism

This protein is involved in the pathway sphingolipid metabolism, which is part of Lipid metabolism.3 Publications
View all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processLipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:MONOMER66-34367

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.3.1.24 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660661 Sphingolipid de novo biosynthesis

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00222

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000698

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ceramide synthase 11 Publication (EC:2.3.1.-3 Publications)
Short name:
CerS11 Publication
Alternative name(s):
LAG1 longevity assurance homolog 11 Publication
Longevity assurance gene 1 protein homolog 1By similarity
Protein UOG-11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CERS11 PublicationImported
Synonyms:LAG11 Publication, LASS1By similarity, UOG11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14253 CERS1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606919 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P27544

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei53 – 73HelicalSequence analysisAdd BLAST21
Transmembranei103 – 123HelicalSequence analysisAdd BLAST21
Transmembranei148 – 168HelicalSequence analysisAdd BLAST21
Transmembranei176 – 196HelicalSequence analysisAdd BLAST21
Transmembranei239 – 259HelicalSequence analysisAdd BLAST21
Transmembranei287 – 307HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epilepsy, progressive myoclonic 8 (EPM8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of progressive myoclonic epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073336183H → Q in EPM8; expressed and localized properly to the ER; impaired ceramide synthase activity. 1 PublicationCorresponds to variant dbSNP:rs200024180Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
10715

MalaCards human disease database

More...
MalaCardsi
CERS1
MIMi616230 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000223802

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
424027 Progressive myoclonic epilepsy type 8

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30299

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P27544

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CERS1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
137046

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001855072 – 350Ceramide synthase 1Add BLAST349

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Acetylated. Deacetylation by SIRT3 increases enzyme activity and promotes mitochondrial ceramide accumulation.By similarity

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P27544

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P27544

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P27544

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P27544

PeptideAtlas

More...
PeptideAtlasi
P27544

PRoteomics IDEntifications database

More...
PRIDEi
P27544

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
54401 [P27544-1]
54402 [P27544-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P27544

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P27544

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P27544

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000223802 Expressed in 126 organ(s), highest expression level in medial globus pallidus

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P27544 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P27544 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045724

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115941, 3 interactors

Protein interaction database and analysis system

More...
IntActi
P27544, 8 interactors

Molecular INTeraction database

More...
MINTi
P27544

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini97 – 311TLCPROSITE-ProRule annotationAdd BLAST215

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1607 Eukaryota
COG5058 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162926

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P27544

KEGG Orthology (KO)

More...
KOi
K04710

Identification of Orthologs from Complete Genome Data

More...
OMAi
HDINDVQ

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P27544

TreeFam database of animal gene trees

More...
TreeFami
TF314319

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016439 Lag1/Lac1-like
IPR015615 TGF-beta-rel
IPR006634 TLC-dom

The PANTHER Classification System

More...
PANTHERi
PTHR11848 PTHR11848, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03798 TRAM_LAG1_CLN8, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF005225 LAG1_LAC1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00724 TLC, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50922 TLC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P27544-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAAGPAAGP TGPEPMPSYA QLVQRGWGSA LAAARGCTDC GWGLARRGLA
60 70 80 90 100
EHAHLAPPEL LLLALGALGW TALRSAATAR LFRPLAKRCC LQPRDAAKMP
110 120 130 140 150
ESAWKFLFYL GSWSYSAYLL FGTDYPFFHD PPSVFYDWTP GMAVPRDIAA
160 170 180 190 200
AYLLQGSFYG HSIYATLYMD TWRKDSVVML LHHVVTLILI VSSYAFRYHN
210 220 230 240 250
VGILVLFLHD ISDVQLEFTK LNIYFKSRGG SYHRLHALAA DLGCLSFGFS
260 270 280 290 300
WFWFRLYWFP LKVLYATSHC SLRTVPDIPF YFFFNALLLL LTLMNLYWFL
310 320 330 340 350
YIVAFAAKVL TGQVHELKDL REYDTAEAQS LKPSKAEKPL RNGLVKDKRF
Length:350
Mass (Da):39,536
Last modified:August 1, 1992 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF102C12C47DB4162
GO
Isoform 2 (identifier: P27544-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     338-350: Missing.

Note: No experimental confirmation available.
Show »
Length:337
Mass (Da):37,983
Checksum:i563C0D539D8E1E5C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A024R7N8A0A024R7N8_HUMAN
Ceramide synthase 1
CERS1 hCG_2045882
372Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5XG75Q5XG75_HUMAN
Ceramide synthase 1
CERS1 LASS1
239Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R0T2M0R0T2_HUMAN
Ceramide synthase 1
CERS1
216Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti111G → C in AAH22450 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073336183H → Q in EPM8; expressed and localized properly to the ER; impaired ceramide synthase activity. 1 PublicationCorresponds to variant dbSNP:rs200024180Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_003049338 – 350Missing in isoform 2. 1 PublicationAdd BLAST13

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M62302 mRNA Translation: AAA58500.1
AF105009
, AF105005, AF105006, AF105007, AF105008 Genomic DNA Translation: AAD16892.1
AC005197 Genomic DNA Translation: AAC24611.1
AC003972 Genomic DNA No translation available.
BC022450 mRNA Translation: AAH22450.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46020.1 [P27544-1]
CCDS46021.1 [P27544-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
D39364

NCBI Reference Sequences

More...
RefSeqi
NP_067090.1, NM_021267.4 [P27544-1]
NP_937850.1, NM_198207.2 [P27544-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000429504; ENSP00000389044; ENSG00000223802 [P27544-2]
ENST00000623882; ENSP00000485308; ENSG00000223802 [P27544-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10715

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10715

UCSC genome browser

More...
UCSCi
uc002nki.2 human [P27544-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M62302 mRNA Translation: AAA58500.1
AF105009
, AF105005, AF105006, AF105007, AF105008 Genomic DNA Translation: AAD16892.1
AC005197 Genomic DNA Translation: AAC24611.1
AC003972 Genomic DNA No translation available.
BC022450 mRNA Translation: AAH22450.1
CCDSiCCDS46020.1 [P27544-1]
CCDS46021.1 [P27544-2]
PIRiD39364
RefSeqiNP_067090.1, NM_021267.4 [P27544-1]
NP_937850.1, NM_198207.2 [P27544-2]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi115941, 3 interactors
IntActiP27544, 8 interactors
MINTiP27544

Chemistry databases

SwissLipidsiSLP:000000698

PTM databases

iPTMnetiP27544
PhosphoSitePlusiP27544
SwissPalmiP27544

Polymorphism and mutation databases

BioMutaiCERS1
DMDMi137046

Proteomic databases

EPDiP27544
MassIVEiP27544
MaxQBiP27544
PaxDbiP27544
PeptideAtlasiP27544
PRIDEiP27544
ProteomicsDBi54401 [P27544-1]
54402 [P27544-2]

Genome annotation databases

EnsembliENST00000429504; ENSP00000389044; ENSG00000223802 [P27544-2]
ENST00000623882; ENSP00000485308; ENSG00000223802 [P27544-1]
GeneIDi10715
KEGGihsa:10715
UCSCiuc002nki.2 human [P27544-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10715
DisGeNETi10715

GeneCards: human genes, protein and diseases

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GeneCardsi
CERS1
HGNCiHGNC:14253 CERS1
HPAiHPA045724
MalaCardsiCERS1
MIMi606919 gene
616230 phenotype
neXtProtiNX_P27544
OpenTargetsiENSG00000223802
Orphaneti424027 Progressive myoclonic epilepsy type 8
PharmGKBiPA30299

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1607 Eukaryota
COG5058 LUCA
GeneTreeiENSGT00940000162926
InParanoidiP27544
KOiK04710
OMAiHDINDVQ
PhylomeDBiP27544
TreeFamiTF314319

Enzyme and pathway databases

UniPathwayiUPA00222
BioCyciMetaCyc:MONOMER66-34367
BRENDAi2.3.1.24 2681
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CERS1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LASS1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10715
PharosiP27544

Protein Ontology

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PROi
PR:P27544

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000223802 Expressed in 126 organ(s), highest expression level in medial globus pallidus
ExpressionAtlasiP27544 baseline and differential
GenevisibleiP27544 HS

Family and domain databases

InterProiView protein in InterPro
IPR016439 Lag1/Lac1-like
IPR015615 TGF-beta-rel
IPR006634 TLC-dom
PANTHERiPTHR11848 PTHR11848, 1 hit
PfamiView protein in Pfam
PF03798 TRAM_LAG1_CLN8, 1 hit
PIRSFiPIRSF005225 LAG1_LAC1, 1 hit
SMARTiView protein in SMART
SM00724 TLC, 1 hit
PROSITEiView protein in PROSITE
PS50922 TLC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCERS1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P27544
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: August 1, 1992
Last modified: October 16, 2019
This is version 157 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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