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PRELID3A PRELI domain containing 3A [ Homo sapiens (human) ]

Gene ID: 10650, updated on 2-Nov-2024

Summary

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Official Symbol
PRELID3Aprovided by HGNC
Official Full Name
PRELI domain containing 3Aprovided by HGNC
Primary source
HGNC:HGNC:24639
See related
Ensembl:ENSG00000141391 MIM:616545; AllianceGenome:HGNC:24639
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
SLMO1; C18orf43; HFL-EDDG1
Summary
Enables phosphatidic acid transfer activity. Involved in phospholipid transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 2.2), fat (RPKM 1.3) and 23 other tissues See more
Orthologs
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Genomic context

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See PRELID3A in Genome Data Viewer
Location:
18p11.21
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (12407929..12432238)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (12570904..12595226)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12407928..12432237)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985154 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12334195-12335050 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12335909-12336764 Neighboring gene AFG3 like matrix AAA peptidase subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12377463-12377994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12377995-12378524 Neighboring gene Sharpr-MPRA regulatory region 1882 Neighboring gene hESC enhancers GRCh37_chr18:12407327-12407988 and GRCh37_chr18:12407989-12408648 Neighboring gene RNA, U7 small nuclear 129 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12415673-12416623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12431759-12432277 Neighboring gene uncharacterized LOC105371998 Neighboring gene high mobility group box 3 pseudogene 28 Neighboring gene spire type actin nucleation factor 1

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 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. Structural insight into the TRIAP1/PRELI-like domain family of mitochondrial phospholipid transfer complexes. Miliara X, et al. EMBO Rep, 2015 Jul. PMID 26071602, Free PMC Article
  2. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. Hasson SA, et al. Nature, 2013 Dec 12. PMID 24270810, Free PMC Article
  3. Analysis of the Histone H3.1 Interactome: A Suitable Chaperone for the Right Event. Campos EI, et al. Mol Cell, 2015 Nov 19. PMID 26527279, Free PMC Article
  4. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
  5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ31484, MGC120170, DKFZp547K106

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidic acid transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidic acid transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
  
involved_in phospholipid transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phospholipid transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
PRELI domain containing protein 3A
Names
erythroid differentiation and denucleation factor 1
protein slowmo homolog 1
slowmo homolog 1

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_001142405.2 → NP_001135877.1  PRELI domain containing protein 3A isoform 1

    See identical proteins and their annotated locations for NP_001135877.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the more predominant transcript. Transcript variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK056046, AK303325, AP001029, DB018070
    Consensus CDS
    CCDS11860.1
    UniProtKB/Swiss-Prot
    B0YJ10, B4E0C9, D3DUJ1, Q6AHX2, Q96N28
    UniProtKB/TrEMBL
    K7ELB4
    Related
    ENSP00000404700.1, ENST00000440960.6
    Conserved Domains (1) summary
    pfam04707
    Location:15 → 170
    PRELI; PRELI-like family

  2. NM_001142406.1 → NP_001135878.1  PRELI domain containing protein 3A isoform 2

    See identical proteins and their annotated locations for NP_001135878.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has a different 5' terminal exon resulting in translation initiation from a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK303325, AP001029, CA446199
    Consensus CDS
    CCDS77154.1
    UniProtKB/TrEMBL
    K7EPM9
    Related
    ENSP00000466737.1, ENST00000592149.5
    Conserved Domains (1) summary
    pfam04707
    Location:1 → 149
    PRELI; PRELI-like family

  3. NM_006553.4 → NP_006544.2  PRELI domain containing protein 3A isoform 1

    See identical proteins and their annotated locations for NP_006544.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' UTR compared to variant 1. Transcript variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK056046, AP001029, DB018070
    Consensus CDS
    CCDS11860.1
    UniProtKB/Swiss-Prot
    B0YJ10, B4E0C9, D3DUJ1, Q6AHX2, Q96N28
    UniProtKB/TrEMBL
    K7ELB4
    Related
    ENSP00000338988.3, ENST00000336990.8
    Conserved Domains (1) summary
    pfam04707
    Location:15 → 170
    PRELI; PRELI-like family

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    12407929..12432238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451076.2 → XP_024306844.1  PRELI domain containing protein 3A isoform X4

    UniProtKB/TrEMBL
    K7EPM9
    Conserved Domains (1) summary
    pfam04707
    Location:1 → 149
    PRELI; PRELI-like family

  2. XM_047437273.1 → XP_047293229.1  PRELI domain containing protein 3A isoform X3

  3. XM_024451075.1 → XP_024306843.1  PRELI domain containing protein 3A isoform X2

    UniProtKB/TrEMBL
    K7ELB4
    Conserved Domains (1) summary
    pfam04707
    Location:19 → 174
    PRELI; PRELI-like family

  4. XM_047437271.1 → XP_047293227.1  PRELI domain containing protein 3A isoform X1

    Related
    ENSP00000465996.1, ENST00000587862.5

  5. XM_047437272.1 → XP_047293228.1  PRELI domain containing protein 3A isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    12570904..12595226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318147.1 → XP_054174122.1  PRELI domain containing protein 3A isoform X3

  2. XM_054318146.1 → XP_054174121.1  PRELI domain containing protein 3A isoform X2

  3. XM_054318144.1 → XP_054174119.1  PRELI domain containing protein 3A isoform X1

  4. XM_054318145.1 → XP_054174120.1  PRELI domain containing protein 3A isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96N28.1 GenPept UniProtKB/Swiss-Prot:Q96N28

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