1. Gene
  2. BMS1 - BMS1 ribosome biogenesis factor Gene

BMS1 - BMS1 ribosome biogenesis factor Gene

Homo sapiens

Also known as ACC; BMS1L

Gene ID: 9790 | Gene type: protein coding

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

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

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