Seroatlas · Human Serome Atlas

BMS1

Ribosome biogenesis protein BMS1 homolog

Also known as: BMS1_HUMAN, BMS1L, KIAA0187

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q14692
Gene: BMS1
Ensembl: ENSG00000165733
Chromosome: 10
Canonical length: 1282 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli,Mitotic chromosome

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1282 residues, UniProt reviewed canonical sequence.

>Q14692|BMS1
     1  MEAKDQKKHR KKNSGPKAAK KKKRLLQDLQ LGDEEDARKR NPKAFAVQSA VRMARSFHRT
    61  QDLKTKKHHI PVVDRTPLEP PPIVVVVMGP PKVGKSTLIQ CLIRNFTRQK LTEIRGPVTI
   121  VSGKKRRLTI IECGCDINMM IDLAKVADLV LMLIDASFGF EMETFEFLNI CQVHGFPKIM
   181  GVLTHLDSFK HNKQLKKTKK RLKHRFWTEV YPGAKLFYLS GMVHGEYQNQ EIHNLGRFIT
   241  VMKFRPLTWQ TSHPYILADR MEDLTNPEDI RTNIKCDRKV SLYGYLRGAH LKNKSQIHMP
   301  GVGDFAVSDI SFLPDPCALP EQQKKRCLNE KEKLVYAPLS GVGGVLYDKD AVYVDLGGSH
   361  VFQDEVGPTH ELVQSLISTH STIDAKMASS RVTLFSDSKP LGSEDIDNQG LMMPKEEKQM
   421  DLNTGRMRRK AIFGDEDESG DSDDEEDDEM SEDDGLENGS SDEEAEEEEN AEMTDQYMAV
   481  KGIKRRKLEL EEDSEMDLPA FADSDDDLER SSAEEGEAEE ADESSEEEDC TAGEKGISGS
   541  KAAGEGSKAG LSPANCQSDR VNLEKSLLMK KAALPTFDSG HCTAEEVFAS EDESEESSSL
   601  SAEEEDSENE EAIRKKLSKP SQVSSGQKLG PQNFIDETSD IENLLKEEED YKEENNDSKE
   661  TSGALKWKED LSRKAAEAFL RQQQAAPNLR KLIYGTVTED NEEEDDDTLE ELGGLFRVNQ
   721  PDRECKHKAD SLDCSRFLVE APHDWDLEEV MNSIRDCFVT GKWEDDKDAA KVLAEDEELY
   781  GDFEDLETGD VHKGKSGPNT QNEDIEKEVK EEIDPDEEES AKKKHLDKKR KLKEMFDAEY
   841  DEGESTYFDD LKGEMQKQAQ LNRAEFEDQD DEARVQYEGF RPGMYVRIEI ENVPCEFVQN
   901  FDPHYPIILG GLGNSEGNVG YVQMRLKKHR WYKKILKSRD PIIFSVGWRR FQTIPLYYIE
   961  DHNGRQRLLK YTPQHMHCGA AFWGPITPQG TGFLAIQSVS GIMPDFRIAA TGVVLDLDKS
  1021  IKIVKKLKLT GFPYKIFKNT SFIKGMFNSA LEVAKFEGAV IRTVSGIRGQ IKKALRAPEG
  1081  AFRASFEDKL LMSDIVFMRT WYPVSIPAFY NPVTSLLKPV GEKDTWSGMR TTGQLRLAHG
  1141  VRLKANKDSL YKPILRQKKH FNSLHIPKAL QKALPFKNKP KTQAKAGKVP KDRRRPAVIR
  1201  EPHERKILAL LDALSTVHSQ KMKKAKEQRH LHNKEHFRAK QKEEEEKLKR QKDLRKKLFR
  1261  IQGQKERRNQ KSSLKGAEGQ LQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BMS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 17 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 17 nTPM
tongue: 13 nTPM
parathyroid gland: 11 nTPM
cerebellum: 10 nTPM
bone marrow: 10 nTPM
tonsil: 10 nTPM

Single-cell type

cardiomyocytes: 74 nCPM
erythrocyte progenitors: 71 nCPM
megakaryocyte-erythroid progenitors: 69 nCPM
myonuclei: 59 nCPM
adipocytes: 57 nCPM
thymic myoid cells: 57 nCPM

Immune cell

naive CD4 T-cell: 9.7 nTPM
memory CD4 T-cell: 9 nTPM
memory B-cell: 8.9 nTPM
MAIT T-cell: 8.6 nTPM
intermediate monocyte: 8.3 nTPM
naive CD8 T-cell: 8.3 nTPM

Brain region

choroid plexus: 17 nTPM
cerebellum: 17 nTPM
cerebral cortex: 16 nTPM
midbrain: 16 nTPM
pons: 16 nTPM
hypothalamus: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BMS1.

Disease | AllUniProt

Conditions BMS1 is implicated in, by any mechanism.

Aplasia cutis congenita, non-syndromic (ACC) MIM:107600

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 269 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Aplasia cutis congenita

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.45
gnomAD pLI: 0
gnomAD missense Z: 0.26
DepMap mean gene effect: -0.98
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Ribosome biogenesis protein BMS1/TSR1, C-terminal
AARP2CN
P-loop containing nucleoside triphosphate hydrolase
Bms1/Tsr1-type G domain
Ribosome biogenesis protein Bms1/Tsr1
40S ribosome biogenesis protein Tsr1 and BMS1 C-terminal
AARP2CN (NUC121) domain
Ribosome biogenesis protein Bms1, N-terminal

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BMS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BMS1 as an antibody target. Whether an autoantibody or antibody against BMS1 could matter depends on whether native BMS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BMS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BMS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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