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BYSL bystin like [ Homo sapiens (human) ]

Gene ID: 705, updated on 5-Jul-2020

Summary

Official Symbol
BYSLprovided by HGNC
Official Full Name
bystin likeprovided by HGNC
Primary source
HGNC:HGNC:1157
See related
Ensembl:ENSG00000112578 MIM:603871
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Enp1; BYSTIN
Summary
Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 5.5), placenta (RPKM 4.9) and 25 other tissues See more
Orthologs

Genomic context

See BYSL in Genome Data Viewer
Location:
6p21.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (41921499..41933046)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41888965..41900784)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 49 Neighboring gene mediator complex subunit 20 Neighboring gene Sharpr-MPRA regulatory region 4595 Neighboring gene cyclin D3 Neighboring gene uncharacterized LOC105375060

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
snoRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
Inferred from Electronic Annotation
more info
 
rRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of protein localization to nucleolus ISS
Inferred from Sequence or Structural Similarity
more info
 
ribosome biogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
trophectodermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
preribosome, small subunit precursor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
bystin
Names
by the ribosomal protein s6 gene, drosophila, homolog-like

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_004053.4NP_004044.3  bystin

    See identical proteins and their annotated locations for NP_004044.3

    Status: REVIEWED

    Source sequence(s)
    BC007340, BC050645, BC062627
    Consensus CDS
    CCDS34450.1
    UniProtKB/Swiss-Prot
    Q13895
    Related
    ENSP00000230340.4, ENST00000230340.9
    Conserved Domains (1) summary
    pfam05291
    Location:144431
    Bystin; Bystin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    41921499..41933046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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