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

Gene ID: 51012, updated on 2-Oct-2018

Summary

Official Symbol
PRELID3Bprovided by HGNC
Official Full Name
PRELI domain containing 3Bprovided by HGNC
Primary source
HGNC:HGNC:15892
See related
Ensembl:ENSG00000101166 Vega:OTTHUMG00000032856
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
SLMO2; C20orf45; dJ543J19.5
Expression
Ubiquitous expression in duodenum (RPKM 48.4), small intestine (RPKM 44.2) and 25 other tissues See more
Orthologs

Genomic context

See PRELID3B in Genome Data Viewer
Location:
20q13.32
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (59033145..59042846, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57608200..57617901, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene SLMO2-ATP5E readthrough Neighboring gene tubulin beta 1 class VI Neighboring gene ATP synthase F1 subunit epsilon Neighboring gene mitochondrial ribosomal protein S16 pseudogene 2 Neighboring gene zinc finger protein 831

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidic acid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
phospholipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
PRELI domain containing protein 3B
Names
protein slowmo homolog 2
slowmo homolog 2

NCBI Reference Sequences (RefSeq)

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_001256403.1NP_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, OTTHUMP00000031406, ENST00000371033.9, OTTHUMT00000079896
    Conserved Domains (1) summary
    pfam04707
    Location:15140
    PRELI; PRELI-like family
  2. NM_016045.2NP_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, CO248221
    Consensus CDS
    CCDS42893.1
    UniProtKB/Swiss-Prot
    Q9Y3B1
    Related
    ENSP00000348206.4, OTTHUMP00000031407, ENST00000355937.8, OTTHUMT00000079897
    Conserved Domains (1) summary
    pfam04707
    Location:15170
    PRELI; PRELI-like family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    59033145..59042846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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