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    LDAF1 lipid droplet assembly factor 1 [ Homo sapiens (human) ]

    Gene ID: 57146, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LDAF1provided by HGNC
    Official Full Name
    lipid droplet assembly factor 1provided by HGNC
    Primary source
    HGNC:HGNC:30136
    See related
    Ensembl:ENSG00000011638 MIM:611304; AllianceGenome:HGNC:30136
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TMEM159
    Summary
    Involved in lipid droplet formation. Located in endoplasmic reticulum membrane and lipid droplet. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 19.6), skin (RPKM 18.8) and 23 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See LDAF1 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21158674..21180616)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (21089598..21111555)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21169995..21191937)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene defective in cullin neddylation 1 domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10546 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:20911499-20912284 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:20912285-20913070 Neighboring gene LYR motif containing 1 Neighboring gene dynein axonemal heavy chain 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:20982344-20983543 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:20985044-20985544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7247 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21059143-21059715 Neighboring gene uncharacterized LOC107984888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10547 Neighboring gene Sharpr-MPRA regulatory region 1818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21170492-21170992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10551 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21233480-21234004 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21234005-21234530 Neighboring gene uncharacterized LOC105371123 Neighboring gene zona pellucida glycoprotein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Adipocyte-specific gene expression and adipogenic steatosis in the mouse liver due to peroxisome proliferator-activated receptor gamma1 (PPARgamma1) overexpression. Yu S, et al. J Biol Chem, 2003 Jan 3. PMID 12401792
    2. LDAF1 and Seipin Form a Lipid Droplet Assembly Complex. Chung J, et al. Dev Cell, 2019 Dec 2. PMID 31708432, Free PMC Article
    3. Promethin Is a Conserved Seipin Partner Protein. Castro IG, et al. Cells, 2019 Mar 21. PMID 30901948, Free PMC Article
    4. Identification of seipin-linked factors that act as determinants of a lipid droplet subpopulation. Eisenberg-Bord M, et al. J Cell Biol, 2018 Jan 2. PMID 29187527, Free PMC Article
    5. Identification of promethin and PGLP as two novel up-regulated genes in PPARgamma1-induced adipogenic mouse liver. Yu S, et al. Biochimie, 2004 Nov. PMID 15589683

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid droplet formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    lipid droplet assembly factor 1
    Names
    PROMETHIN
    transmembrane protein 159

    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.

    mRNA and Protein(s)

    1. NM_001301769.2 → NP_001288698.1  lipid droplet assembly factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001288698.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AF001550, AF070596, AL694739, BC015812, BI821683, BX647512, CU448562
      Consensus CDS
      CCDS10595.1
      UniProtKB/Swiss-Prot
      A6NMA9, B4DEC1, O00323, Q96B96
      Related
      ENSP00000460687.1, ENST00000572599.5
      Conserved Domains (1) summary
      pfam16015
      Location:41 → 127
      Promethin; Promethin

    2. NM_001301771.2 → NP_001288700.1  lipid droplet assembly factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001288700.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AF001550, AF070596, AL694739, BC015812, BX647512, CU448562
      Consensus CDS
      CCDS10595.1
      UniProtKB/Swiss-Prot
      A6NMA9, B4DEC1, O00323, Q96B96
      Related
      ENSP00000233047.4, ENST00000233047.9
      Conserved Domains (1) summary
      pfam16015
      Location:41 → 127
      Promethin; Promethin

    3. NM_001301773.2 → NP_001288702.1  lipid droplet assembly factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001288702.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR and lacks multiple exons in the coding region, one of which results in a translational frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 5 and 6 encode the same isoform (3).
      Source sequence(s)
      AF001550, AK074667, AL694739, BX647512, CB128337, CU448562, CX786237
      Consensus CDS
      CCDS76842.1
      UniProtKB/TrEMBL
      I3L288
      Conserved Domains (1) summary
      pfam16015
      Location:41 → 89
      Promethin; Promethin

    4. NM_001301774.2 → NP_001288703.1  lipid droplet assembly factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001288703.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks multiple exons in the coding region, one of which results in a translational frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 5 and 6 encode the same isoform (3).
      Source sequence(s)
      AF001550, AK074667, AL694739, BX647512, CB128337, CU448562
      Consensus CDS
      CCDS76842.1
      UniProtKB/TrEMBL
      I3L288
      Related
      ENSP00000459481.1, ENST00000572258.5
      Conserved Domains (1) summary
      pfam16015
      Location:41 → 89
      Promethin; Promethin

    5. NM_001301775.2 → NP_001288704.1  lipid droplet assembly factor 1 isoform 1

      See identical proteins and their annotated locations for NP_001288704.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF001550, AF070596, AK293557, AL694739, CU448562
      Consensus CDS
      CCDS76841.1
      Related
      ENSP00000409879.2, ENST00000451578.6
      Conserved Domains (1) summary
      pfam16015
      Location:65 → 151
      Promethin; Promethin

    6. NM_020422.6 → NP_065155.3  lipid droplet assembly factor 1 isoform 2

      See identical proteins and their annotated locations for NP_065155.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AF001550, AF070596, AK074667, AL694739, BX647512, CU448562
      Consensus CDS
      CCDS10595.1
      UniProtKB/Swiss-Prot
      A6NMA9, B4DEC1, O00323, Q96B96
      Related
      ENSP00000261388.3, ENST00000261388.7
      Conserved Domains (1) summary
      pfam16015
      Location:41 → 127
      Promethin; Promethin

    RNA

    1. NR_125971.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF001550, AF070596, AK074667, AL694739, BX647512, CU448562

    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

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      21158674..21180616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721066.3 → XP_006721129.1  lipid droplet assembly factor 1 isoform X8

      See identical proteins and their annotated locations for XP_006721129.1

      Conserved Domains (1) summary
      pfam16015
      Location:65 → 151
      Promethin; Promethin

    2. XM_006721069.4 → XP_006721132.1  lipid droplet assembly factor 1 isoform X7

      Conserved Domains (1) summary
      pfam16015
      Location:65 → 113
      Promethin; Promethin

    3. XM_006721067.5 → XP_006721130.1  lipid droplet assembly factor 1 isoform X3

      UniProtKB/TrEMBL
      I3NI23
      Related
      ENSP00000461828.1, ENST00000573487.5
      Conserved Domains (1) summary
      pfam16015
      Location:65 → 151
      Promethin; Promethin

    4. XM_017023473.3 → XP_016878962.1  lipid droplet assembly factor 1 isoform X4

    5. XM_024450356.2 → XP_024306124.1  lipid droplet assembly factor 1 isoform X6

      Conserved Domains (1) summary
      pfam16015
      Location:41 → 127
      Promethin

    6. XM_047434370.1 → XP_047290326.1  lipid droplet assembly factor 1 isoform X5

    7. XM_024450357.2 → XP_024306125.1  lipid droplet assembly factor 1 isoform X6

      Conserved Domains (1) summary
      pfam16015
      Location:41 → 127
      Promethin

    8. XM_017023471.2 → XP_016878960.1  lipid droplet assembly factor 1 isoform X1

    9. XM_017023474.2 → XP_016878963.1  lipid droplet assembly factor 1 isoform X5

    10. XM_047434368.1 → XP_047290324.1  lipid droplet assembly factor 1 isoform X2

    11. XM_047434369.1 → XP_047290325.1  lipid droplet assembly factor 1 isoform X4

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      2486..4307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      21089598..21111555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313498.1 → XP_054169473.1  lipid droplet assembly factor 1 isoform X8

    2. XM_054313506.1 → XP_054169481.1  lipid droplet assembly factor 1 isoform X7

    3. XM_054313501.1 → XP_054169476.1  lipid droplet assembly factor 1 isoform X3

      UniProtKB/TrEMBL
      I3NI23

    4. XM_054313502.1 → XP_054169477.1  lipid droplet assembly factor 1 isoform X4

    5. XM_054313504.1 → XP_054169479.1  lipid droplet assembly factor 1 isoform X6

    6. XM_054313503.1 → XP_054169478.1  lipid droplet assembly factor 1 isoform X5

    7. XM_054313505.1 → XP_054169480.1  lipid droplet assembly factor 1 isoform X6

    8. XM_054313499.1 → XP_054169474.1  lipid droplet assembly factor 1 isoform X1

    9. XM_054313500.1 → XP_054169475.1  lipid droplet assembly factor 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96B96.2 GenPept UniProtKB/Swiss-Prot:Q96B96

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