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BMS1 BMS1 ribosome biogenesis factor [ Homo sapiens (human) ]

Gene ID: 9790, updated on 21-Jun-2020

Summary

Official Symbol
BMS1provided by HGNC
Official Full Name
BMS1 ribosome biogenesis factorprovided by HGNC
Primary source
HGNC:HGNC:23505
See related
Ensembl:ENSG00000165733 MIM:611448
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
ACC; BMS1L
Summary
This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in testis (RPKM 6.4), appendix (RPKM 5.6) and 25 other tissues See more
Orthologs

Genomic context

See BMS1 in Genome Data Viewer
Location:
10q11.21
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (42782775..42834937)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (43277954..43330385)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378269 Neighboring gene uncharacterized LOC283028 Neighboring gene double homeobox A pseudogene 3 Neighboring gene RNA, U6 small nuclear 885, pseudogene Neighboring gene long intergenic non-protein coding RNA 2623 Neighboring gene VISTA enhancer hs2327

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

Phenotypes

Associated conditions

Description Tests
Aplasia cutis congenita (disease)
MedGen: C0282160 OMIM: 107600 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0187

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA binding HDA PubMed 
U3 snoRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
90S preribosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleolus ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ribosome biogenesis protein BMS1 homolog
Names
BMS1 homolog, ribosome assembly protein
BMS1-like, ribosome assembly protein
ribosome assembly protein BMS1 homolog

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.

Genomic

  1. NG_046921.1 RefSeqGene

    Range
    5290..57432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014753.4NP_055568.3  ribosome biogenesis protein BMS1 homolog

    See identical proteins and their annotated locations for NP_055568.3

    Status: REVIEWED

    Source sequence(s)
    AI184520, AI718109, AK308420, AL022344, BC043345, BC150252, DB064246
    Consensus CDS
    CCDS7199.1
    UniProtKB/Swiss-Prot
    Q14692
    Related
    ENSP00000363642.4, ENST00000374518.6
    Conserved Domains (4) summary
    smart00785
    Location:231317
    AARP2CN; AARP2CN (NUC121) domain
    cd01882
    Location:44273
    BMS1; Bms1, an essential GTPase, promotes assembly of preribosomal RNA processing complexes
    COG5192
    Location:411271
    BMS1; GTP-binding protein required for 40S ribosome biogenesis [Translation, ribosomal structure and biogenesis]
    pfam04950
    Location:8341104
    RIBIOP_C; 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal

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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    42782775..42834937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271848.3XP_005271905.1  ribosome biogenesis protein BMS1 homolog isoform X2

    Conserved Domains (4) summary
    smart00785
    Location:231317
    AARP2CN; AARP2CN (NUC121) domain
    cd01882
    Location:44273
    BMS1; Bms1, an essential GTPase, promotes assembly of preribosomal RNA processing complexes
    COG5192
    Location:411208
    BMS1; GTP-binding protein required for 40S ribosome biogenesis [Translation, ribosomal structure and biogenesis]
    pfam04950
    Location:8511041
    RIBIOP_C; 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal
  2. XM_011540402.2XP_011538704.1  ribosome biogenesis protein BMS1 homolog isoform X1

    See identical proteins and their annotated locations for XP_011538704.1

    UniProtKB/Swiss-Prot
    Q14692
    Conserved Domains (4) summary
    smart00785
    Location:231317
    AARP2CN; AARP2CN (NUC121) domain
    cd01882
    Location:44273
    BMS1; Bms1, an essential GTPase, promotes assembly of preribosomal RNA processing complexes
    COG5192
    Location:411271
    BMS1; GTP-binding protein required for 40S ribosome biogenesis [Translation, ribosomal structure and biogenesis]
    pfam04950
    Location:8341104
    RIBIOP_C; 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal
  3. XM_005271846.3XP_005271903.1  ribosome biogenesis protein BMS1 homolog isoform X1

    See identical proteins and their annotated locations for XP_005271903.1

    UniProtKB/Swiss-Prot
    Q14692
    Conserved Domains (4) summary
    smart00785
    Location:231317
    AARP2CN; AARP2CN (NUC121) domain
    cd01882
    Location:44273
    BMS1; Bms1, an essential GTPase, promotes assembly of preribosomal RNA processing complexes
    COG5192
    Location:411271
    BMS1; GTP-binding protein required for 40S ribosome biogenesis [Translation, ribosomal structure and biogenesis]
    pfam04950
    Location:8341104
    RIBIOP_C; 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal
  4. XM_011540403.2XP_011538705.1  ribosome biogenesis protein BMS1 homolog isoform X3

    Conserved Domains (2) summary
    COG5192
    Location:202860
    BMS1; GTP-binding protein required for 40S ribosome biogenesis [Translation, ribosomal structure and biogenesis]
    pfam04950
    Location:423693
    RIBIOP_C; 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal

RNA

  1. XR_002957049.1 RNA Sequence

  2. XR_246522.1 RNA Sequence

  3. XR_001747266.1 RNA Sequence

  4. XR_428728.2 RNA Sequence

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