UniProtKB - Q96B96 (LDAF1_HUMAN)
Lipid droplet assembly factor 1
LDAF1
Functioni
Plays an important role in the formation of lipid droplets (LD) which are storage organelles at the center of lipid and energy homeostasis (PubMed:31708432).
In association with BSCL2/seipin, defines the sites of LD formation in the endoplasmic reticulum (PubMed:31708432).
1 PublicationGO - Biological processi
- lipid droplet formation Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q96B96 |
SignaLinki | Q96B96 |
Names & Taxonomyi
Protein namesi | Recommended name: Lipid droplet assembly factor 11 PublicationAlternative name(s): Promethin2 Publications Transmembrane protein 159 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:30136, LDAF1 |
MIMi | 611304, gene |
neXtProti | NX_Q96B96 |
VEuPathDBi | HostDB:ENSG00000011638 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 2 Publications; Multi-pass membrane protein Sequence analysis
Other locations
- Lipid droplet 2 Publications
Note: Co-localizes with BSCL2/seipin in the ER, upon LD formation dissociates from BSCL2/seipin and relocalizes to LD surfaces during LD maturation.1 Publication
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
- lipid droplet Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 43 | Cytoplasmic1 PublicationAdd BLAST | 43 | |
Transmembranei | 44 – 61 | HelicalSequence analysisAdd BLAST | 18 | |
Topological domaini | 62 – 67 | Lumenal1 Publication | 6 | |
Transmembranei | 68 – 87 | HelicalSequence analysisAdd BLAST | 20 | |
Topological domaini | 88 – 93 | Cytoplasmic1 Publication | 6 | |
Transmembranei | 94 – 110 | HelicalSequence analysisAdd BLAST | 17 | |
Topological domaini | 111 – 116 | Lumenal1 Publication | 6 | |
Transmembranei | 117 – 133 | HelicalSequence analysisAdd BLAST | 17 | |
Topological domaini | 134 – 161 | Cytoplasmic1 PublicationAdd BLAST | 28 |
Keywords - Cellular componenti
Endoplasmic reticulum, Lipid droplet, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 57146 |
OpenTargetsi | ENSG00000011638 |
PharmGKBi | PA145147935 |
Miscellaneous databases
Pharosi | Q96B96, Tdark |
Genetic variation databases
BioMutai | TMEM159 |
DMDMi | 313104024 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000279535 | 1 – 161 | Lipid droplet assembly factor 1Add BLAST | 161 |
Proteomic databases
EPDi | Q96B96 |
jPOSTi | Q96B96 |
MassIVEi | Q96B96 |
MaxQBi | Q96B96 |
PaxDbi | Q96B96 |
PeptideAtlasi | Q96B96 |
PRIDEi | Q96B96 |
ProteomicsDBi | 3940 76056 [Q96B96-1] |
PTM databases
iPTMneti | Q96B96 |
PhosphoSitePlusi | Q96B96 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000011638, Expressed in muscle of leg and 210 other tissues |
ExpressionAtlasi | Q96B96, baseline and differential |
Genevisiblei | Q96B96, HS |
Organism-specific databases
HPAi | ENSG00000011638, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
Interacts with isoform 1 and isoform 3 of BSCL2/seipin to form an oligomeric complex.
2 PublicationsBinary interactionsi
Q96B96
Protein-protein interaction databases
BioGRIDi | 121403, 65 interactors |
IntActi | Q96B96, 15 interactors |
MINTi | Q96B96 |
STRINGi | 9606.ENSP00000233047 |
Miscellaneous databases
RNActi | Q96B96, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S3TB, Eukaryota |
GeneTreei | ENSGT00390000006420 |
InParanoidi | Q96B96 |
OMAi | FMNSRVG |
OrthoDBi | 1492988at2759 |
PhylomeDBi | Q96B96 |
TreeFami | TF335782 |
Family and domain databases
InterProi | View protein in InterPro IPR029709, LDAF1 |
PANTHERi | PTHR14275, PTHR14275, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAKEEPQSIS RDLQELQKKL SLLIDSFQNN SKVVAFMKSP VGQYLDSHPF
60 70 80 90 100
LAFTLLVFIV MSAVPVGFFL LIVVLTTLAA LLGVIILEGL VISVGGFSLL
110 120 130 140 150
CILCGLGFVS LAMSGMMIAS YVVVSSLISC WFSPRPLTQQ NTSCDFLPAM
160
KSAEFEGLYQ E
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L288 | I3L288_HUMAN | Lipid droplet assembly factor 1 | LDAF1 LOC57146, hCG_38247 | 90 | Annotation score: | ||
I3NI23 | I3NI23_HUMAN | Lipid droplet assembly factor 1 | LDAF1 | 163 | Annotation score: | ||
I3L319 | I3L319_HUMAN | Lipid droplet assembly factor 1 | LDAF1 | 98 | Annotation score: | ||
I3NI21 | I3NI21_HUMAN | Lipid droplet assembly factor 1 | LDAF1 | 46 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057765 | 97 | F → L. Corresponds to variant dbSNP:rs35345508Ensembl. | 1 | |
Natural variantiVAR_030923 | 107 | G → S1 PublicationCorresponds to variant dbSNP:rs1046480Ensembl. | 1 | |
Natural variantiVAR_030924 | 154 | E → D2 PublicationsCorresponds to variant dbSNP:rs1063087Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056078 | 30 | N → NSKLPQHSRISLDSDDGVSR LGSAG in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY212918 mRNA Translation: AAO52682.1 AK074667 mRNA Translation: BAC11122.1 AK293557 mRNA Translation: BAG57032.1 AF001550 Genomic DNA Translation: AAB67598.1 AC008551 Genomic DNA No translation available. BC015812 mRNA Translation: AAH15812.1 |
CCDSi | CCDS10595.1 [Q96B96-1] CCDS76841.1 [Q96B96-2] |
RefSeqi | NP_001288698.1, NM_001301769.1 [Q96B96-1] NP_001288700.1, NM_001301771.1 [Q96B96-1] NP_001288702.1, NM_001301773.1 NP_001288703.1, NM_001301774.1 NP_001288704.1, NM_001301775.1 [Q96B96-2] NP_065155.3, NM_020422.5 [Q96B96-1] XP_005255496.1, XM_005255439.4 [Q96B96-2] XP_006721129.1, XM_006721066.2 [Q96B96-2] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY212918 mRNA Translation: AAO52682.1 AK074667 mRNA Translation: BAC11122.1 AK293557 mRNA Translation: BAG57032.1 AF001550 Genomic DNA Translation: AAB67598.1 AC008551 Genomic DNA No translation available. BC015812 mRNA Translation: AAH15812.1 |
CCDSi | CCDS10595.1 [Q96B96-1] CCDS76841.1 [Q96B96-2] |
RefSeqi | NP_001288698.1, NM_001301769.1 [Q96B96-1] NP_001288700.1, NM_001301771.1 [Q96B96-1] NP_001288702.1, NM_001301773.1 NP_001288703.1, NM_001301774.1 NP_001288704.1, NM_001301775.1 [Q96B96-2] NP_065155.3, NM_020422.5 [Q96B96-1] XP_005255496.1, XM_005255439.4 [Q96B96-2] XP_006721129.1, XM_006721066.2 [Q96B96-2] |
3D structure databases
AlphaFoldDBi | Q96B96 |
SMRi | Q96B96 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121403, 65 interactors |
IntActi | Q96B96, 15 interactors |
MINTi | Q96B96 |
STRINGi | 9606.ENSP00000233047 |
PTM databases
iPTMneti | Q96B96 |
PhosphoSitePlusi | Q96B96 |
Genetic variation databases
BioMutai | TMEM159 |
DMDMi | 313104024 |
Proteomic databases
EPDi | Q96B96 |
jPOSTi | Q96B96 |
MassIVEi | Q96B96 |
MaxQBi | Q96B96 |
PaxDbi | Q96B96 |
PeptideAtlasi | Q96B96 |
PRIDEi | Q96B96 |
ProteomicsDBi | 3940 76056 [Q96B96-1] |
Protocols and materials databases
Antibodypediai | 3080, 36 antibodies from 11 providers |
DNASUi | 57146 |
Genome annotation databases
Organism-specific databases
CTDi | 57146 |
DisGeNETi | 57146 |
GeneCardsi | LDAF1 |
HGNCi | HGNC:30136, LDAF1 |
HPAi | ENSG00000011638, Tissue enhanced (skeletal) |
MIMi | 611304, gene |
neXtProti | NX_Q96B96 |
OpenTargetsi | ENSG00000011638 |
PharmGKBi | PA145147935 |
VEuPathDBi | HostDB:ENSG00000011638 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S3TB, Eukaryota |
GeneTreei | ENSGT00390000006420 |
InParanoidi | Q96B96 |
OMAi | FMNSRVG |
OrthoDBi | 1492988at2759 |
PhylomeDBi | Q96B96 |
TreeFami | TF335782 |
Enzyme and pathway databases
PathwayCommonsi | Q96B96 |
SignaLinki | Q96B96 |
Miscellaneous databases
BioGRID-ORCSi | 57146, 10 hits in 1080 CRISPR screens |
ChiTaRSi | TMEM159, human |
GenomeRNAii | 57146 |
Pharosi | Q96B96, Tdark |
PROi | PR:Q96B96 |
RNActi | Q96B96, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000011638, Expressed in muscle of leg and 210 other tissues |
ExpressionAtlasi | Q96B96, baseline and differential |
Genevisiblei | Q96B96, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029709, LDAF1 |
PANTHERi | PTHR14275, PTHR14275, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | LDAF1_HUMAN | |
Accessioni | Q96B96Primary (citable) accession number: Q96B96 Secondary accession number(s): A6NMA9, B4DEC1, O00323 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 6, 2007 |
Last sequence update: | November 30, 2010 | |
Last modified: | May 25, 2022 | |
This is version 141 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families