U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PRELID3B PRELI domain containing 3B [ Homo sapiens (human) ]

Gene ID: 51012, updated on 10-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
PRELID3Bprovided by HGNC
Official Full Name
PRELI domain containing 3Bprovided by HGNC
Primary source
HGNC:HGNC:15892
See related
Ensembl:ENSG00000101166 MIM:620754; AllianceGenome:HGNC:15892
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
UPS2; SLMO2; C20orf45; dJ543J19.5
Summary
Predicted to enable phosphatidic acid transfer activity. Predicted to be involved in phospholipid transport. Predicted to be active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in duodenum (RPKM 48.4), small intestine (RPKM 44.2) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
20q13.32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (59033145..59042786, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (60816258..60825889, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57608200..57617841, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57581561-57582372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18186 Neighboring gene cathepsin Z Neighboring gene tubulin beta 1 class VI Neighboring gene NANOG hESC enhancer GRCh37_chr20:57603869-57604399 Neighboring gene SLMO2-ATP5E readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13087 Neighboring gene ATP synthase F1 subunit epsilon Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13088 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:57638504-57639703 Neighboring gene uncharacterized LOC124904943 Neighboring gene NANOG hESC enhancer GRCh37_chr20:57681118-57681619 Neighboring gene mitochondrial ribosomal protein S16 pseudogene 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Structural determinants of lipid specificity within Ups/PRELI lipid transfer proteins. Miliara X, et al. Nat Commun, 2019 Mar 8. PMID 30850607, Free PMC Article
  2. A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. Qayyum R, et al. PLoS Genet, 2012. PMID 22423221, Free PMC Article
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article
  5. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SLMO2 is a potential prognostic and immunological biomarker in human pan-cancer.
    Title: SLMO2 is a potential prognostic and immunological biomarker in human pan-cancer.
  2. Structural determinants of lipid specificity within Ups/PRELI lipid transfer proteins has been reported.
    Title: Structural determinants of lipid specificity within Ups/PRELI lipid transfer proteins.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidic acid transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
Component Evidence Code Pubs
is_active_in mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
PRELI domain containing protein 3B
Names
protein slowmo homolog 2
slowmo homolog 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001256403.2 → NP_001243332.1  PRELI domain containing protein 3B isoform 2

    See identical proteins and their annotated locations for NP_001243332.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AF151865, AK298135, BC010649
    Consensus CDS
    CCDS58783.1
    UniProtKB/Swiss-Prot
    Q9Y3B1
    Related
    ENSP00000360072.5, ENST00000371033.9
    Conserved Domains (1) summary
    pfam04707
    Location:15 → 140
    PRELI; PRELI-like family

  2. NM_016045.3 → NP_057129.2  PRELI domain containing protein 3B isoform 1

    See identical proteins and their annotated locations for NP_057129.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF151865, BC010649
    Consensus CDS
    CCDS42893.1
    UniProtKB/Swiss-Prot
    E1P5I8, Q5JX17, Q9NUL0, Q9Y3B1
    Related
    ENSP00000348206.4, ENST00000355937.9
    Conserved Domains (1) summary
    pfam04707
    Location:15 → 170
    PRELI; PRELI-like family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    59033145..59042786 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    60816258..60825889 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y3B1.2 GenPept UniProtKB/Swiss-Prot:Q9Y3B1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous