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BYSL bystin like [ Homo sapiens (human) ]

Gene ID: 705, updated on 4-Dec-2022

Summary

Official Symbol
BYSLprovided by HGNC
Official Full Name
bystin likeprovided by HGNC
Primary source
HGNC:HGNC:1157
See related
Ensembl:ENSG00000112578 MIM:603871; AllianceGenome:HGNC:1157
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
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Genomic context

See BYSL in Genome Data Viewer
Location:
6p21.1
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41908759..41933046)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41750059..41761606)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41889237..41900784)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 15280 Neighboring gene ubiquitin specific peptidase 49 Neighboring gene small nucleolar RNA SNORA8 Neighboring gene mediator complex subunit 20 Neighboring gene Sharpr-MPRA regulatory region 4595 Neighboring gene cyclin D3 Neighboring gene uncharacterized LOC105375059 Neighboring gene RNA, U6 small nuclear 761, pseudogene

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

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
EBI GWAS Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS 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
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables snoRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
Inferred from Electronic Annotation
more info
 
involved_in rRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of protein localization to nucleolus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ribosome biogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in trophectodermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical part of cell IEA
Inferred from Electronic Annotation
more info
 
located_in chromosome IDA
Inferred from Direct Assay
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in membrane HDA PubMed 
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
part_of 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)

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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_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, Q96IP8
    Related
    ENSP00000230340.4, ENST00000230340.9
    Conserved Domains (1) summary
    pfam05291
    Location:144431
    Bystin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    41908759..41933046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419281.1XP_047275237.1  bystin isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    41750059..41761606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)