BMS1 - BMS1 ribosome biogenesis factor Gene

Also Known as ACC; BMS1L

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9790

About BMS1

Cytogenetic location: 10q11.21 Genomic coordinates (GRCh38): 10:42,782,795-42,834,937 (from NCBI)

This gene has 1 transcript (splice variant), 227 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 6.4), appendix (RPKM 5.6) and 25 other tissues.

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]

BMS1 Products (1)

mRNA Protein Name
NM_014753.4 NP_055568.3 ribosome biogenesis protein BMS1 homolog
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 GOA
Biological Process GO Annotation Evidence References Source
involved in ribosomal small subunit biogenesis IDA
IDA: Inferred from direct assay
34516797 GOA
Cellular Component GO Annotation Evidence References Source
part of small-subunit processome IDA
IDA: Inferred from direct assay
34516797 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BMS1 Protein Structure

AARP2CN

AARP2CN: AARP2CN (NUC121) domain (231 - 317)

RIBIOP_C

RIBIOP_C: 40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal (818 - 1104)

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  • 1282 a.a.
Protein Preferred Names Protein Names

ribosome biogenesis protein BMS1 homolog

  • BMS1 homolog, ribosome assembly protein

BMS1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BMS1 Q14692 RCL1 Homo sapiens Q9Y2P8 35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Aplasia Cutis Congenita, Nonsyndromic
  • ACC

  • Congenital Defect Of Skull And Scalp

  • Acces Syndrome

  • Nonsyndromic Aplasia Cutis Congenita

  • Scalp Defect, Congenital

  • ACCES

  • Aplasia Cutis Congenita With Ectrodactyly Skeletal Syndrome

  • Congenital Absence Of Skin On Scalp

  • Congenital Defect Of The Skull And Scalp

  • Congenital Ulcer Of The Newborn

  • Scalp Defect Congenital

  • Aplasia Cutis Congenita, Non-Syndromic

  • Congenital Scalp Defect

  • Aplasia Cutis Congenita

Aplasia Cutis Congenita
  • Aplasia Cutis Congenita Of Limbs Recessive

  • Congenital Absence Of Skin On The Upper Or Lower Limbs

  • Recessive Aplasia Cutis Congenita Of The Limbs

  • Aplasia Cutis Congenita Nonsyndromic

  • Congenital Defect Of Skull And Scalp

  • Scalp Defect Congenital

Adams-Oliver Syndrome
  • Adams Oliver Syndrome

  • Aos

  • Congenital Scalp Defects With Distal Limb Reduction Anomalies

  • Aplasia Cutis Congenita With Terminal Transverse Limb Defects

  • Congenital Scalp Defects With Distal Limb Anomalies

  • Limb, Scalp And Skull Defects

  • Limb Scalp And Skull Defects

  • Absence Defect Of Limbs, Scalp, And Skull

Tooth Erosion
  • Generalized Erosion

  • Localized Erosion

  • Generalized Erosions

  • Erosion, Localized

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris BMS1 VGNC VGNC:38487
Rattus norvegicus BMS1 RGD RGD:1308043
Mus musculus BMS1 MGD MGI:2446132
Felis catus BMS1 VGNC VGNC:97367
Bos taurus BMS1 VGNC VGNC:26527
Others BMS1 NCBI