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Protein

Ribosome biogenesis protein BMS1 homolog

Gene

BMS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi89 – 96ATPSequence analysis8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • GTPase activity Source: GO_Central
  • GTP binding Source: GO_Central
  • poly(A) RNA binding Source: UniProtKB
  • U3 snoRNA binding Source: GO_Central

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ribosome biogenesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165733-MONOMER.
ReactomeiR-HSA-6790901. rRNA modification in the nucleus and cytosol.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus and cytosol.

Names & Taxonomyi

Protein namesi
Recommended name:
Ribosome biogenesis protein BMS1 homolog
Alternative name(s):
Ribosome assembly protein BMS1 homolog
Gene namesi
Name:BMS1
Synonyms:BMS1L, KIAA0187
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23505. BMS1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Aplasia cutis congenita, non-syndromic (ACC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body.
See also OMIM:107600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072539930R → H in ACC; fibroblasts show CDKN1A-mediated G1/S phase transition defect with a significantly reduced cell proliferation rate compared to controls; in vitro scratch assay reveal an increased cell migration rate. 1 PublicationCorresponds to variant rs587777706dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNETi9790.
MalaCardsiBMS1.
MIMi107600. phenotype.
OpenTargetsiENSG00000165733.
Orphaneti1114. Circumscribed cutaneous aplasia of the vertex.
PharmGKBiPA162377556.

Polymorphism and mutation databases

BioMutaiBMS1.
DMDMi27151474.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001950041 – 1282Ribosome biogenesis protein BMS1 homologAdd BLAST1282

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei188PhosphoserineCombined sources1
Cross-linki415Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei552PhosphoserineCombined sources1
Modified residuei625PhosphoserineCombined sources1
Modified residuei639PhosphoserineCombined sources1
Modified residuei708PhosphothreonineCombined sources1
Cross-linki810Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Cross-linki810Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ14692.
MaxQBiQ14692.
PaxDbiQ14692.
PeptideAtlasiQ14692.
PRIDEiQ14692.

PTM databases

iPTMnetiQ14692.
PhosphoSitePlusiQ14692.
SwissPalmiQ14692.

Expressioni

Gene expression databases

BgeeiENSG00000165733.
CleanExiHS_BMS1.
GenevisibleiQ14692. HS.

Organism-specific databases

HPAiHPA036589.
HPA043081.

Interactioni

Protein-protein interaction databases

BioGridi115134. 23 interactors.
IntActiQ14692. 9 interactors.
MINTiMINT-3030112.
STRINGi9606.ENSP00000363642.

Structurei

3D structure databases

ProteinModelPortaliQ14692.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini80 – 246Bms1-type GAdd BLAST167

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1951. Eukaryota.
COG5192. LUCA.
GeneTreeiENSGT00550000074774.
HOGENOMiHOG000166882.
HOVERGENiHBG023890.
InParanoidiQ14692.
KOiK14569.
OMAiWQGMKTV.
OrthoDBiEOG091G02GX.
PhylomeDBiQ14692.
TreeFamiTF105751.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR012948. AARP2CN.
IPR007034. BMS1_TSR1_C.
IPR030387. G_Bms1/Tsr1_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF08142. AARP2CN. 1 hit.
PF04950. RIBIOP_C. 1 hit.
[Graphical view]
SMARTiSM00785. AARP2CN. 1 hit.
SM01362. DUF663. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51714. G_BMS1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q14692-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEAKDQKKHR KKNSGPKAAK KKKRLLQDLQ LGDEEDARKR NPKAFAVQSA
60 70 80 90 100
VRMARSFHRT QDLKTKKHHI PVVDRTPLEP PPIVVVVMGP PKVGKSTLIQ
110 120 130 140 150
CLIRNFTRQK LTEIRGPVTI VSGKKRRLTI IECGCDINMM IDLAKVADLV
160 170 180 190 200
LMLIDASFGF EMETFEFLNI CQVHGFPKIM GVLTHLDSFK HNKQLKKTKK
210 220 230 240 250
RLKHRFWTEV YPGAKLFYLS GMVHGEYQNQ EIHNLGRFIT VMKFRPLTWQ
260 270 280 290 300
TSHPYILADR MEDLTNPEDI RTNIKCDRKV SLYGYLRGAH LKNKSQIHMP
310 320 330 340 350
GVGDFAVSDI SFLPDPCALP EQQKKRCLNE KEKLVYAPLS GVGGVLYDKD
360 370 380 390 400
AVYVDLGGSH VFQDEVGPTH ELVQSLISTH STIDAKMASS RVTLFSDSKP
410 420 430 440 450
LGSEDIDNQG LMMPKEEKQM DLNTGRMRRK AIFGDEDESG DSDDEEDDEM
460 470 480 490 500
SEDDGLENGS SDEEAEEEEN AEMTDQYMAV KGIKRRKLEL EEDSEMDLPA
510 520 530 540 550
FADSDDDLER SSAEEGEAEE ADESSEEEDC TAGEKGISGS KAAGEGSKAG
560 570 580 590 600
LSPANCQSDR VNLEKSLLMK KAALPTFDSG HCTAEEVFAS EDESEESSSL
610 620 630 640 650
SAEEEDSENE EAIRKKLSKP SQVSSGQKLG PQNFIDETSD IENLLKEEED
660 670 680 690 700
YKEENNDSKE TSGALKWKED LSRKAAEAFL RQQQAAPNLR KLIYGTVTED
710 720 730 740 750
NEEEDDDTLE ELGGLFRVNQ PDRECKHKAD SLDCSRFLVE APHDWDLEEV
760 770 780 790 800
MNSIRDCFVT GKWEDDKDAA KVLAEDEELY GDFEDLETGD VHKGKSGPNT
810 820 830 840 850
QNEDIEKEVK EEIDPDEEES AKKKHLDKKR KLKEMFDAEY DEGESTYFDD
860 870 880 890 900
LKGEMQKQAQ LNRAEFEDQD DEARVQYEGF RPGMYVRIEI ENVPCEFVQN
910 920 930 940 950
FDPHYPIILG GLGNSEGNVG YVQMRLKKHR WYKKILKSRD PIIFSVGWRR
960 970 980 990 1000
FQTIPLYYIE DHNGRQRLLK YTPQHMHCGA AFWGPITPQG TGFLAIQSVS
1010 1020 1030 1040 1050
GIMPDFRIAA TGVVLDLDKS IKIVKKLKLT GFPYKIFKNT SFIKGMFNSA
1060 1070 1080 1090 1100
LEVAKFEGAV IRTVSGIRGQ IKKALRAPEG AFRASFEDKL LMSDIVFMRT
1110 1120 1130 1140 1150
WYPVSIPAFY NPVTSLLKPV GEKDTWSGMR TTGQLRLAHG VRLKANKDSL
1160 1170 1180 1190 1200
YKPILRQKKH FNSLHIPKAL QKALPFKNKP KTQAKAGKVP KDRRRPAVIR
1210 1220 1230 1240 1250
EPHERKILAL LDALSTVHSQ KMKKAKEQRH LHNKEHFRAK QKEEEEKLKR
1260 1270 1280
QKDLRKKLFR IQGQKERRNQ KSSLKGAEGQ LQ
Length:1,282
Mass (Da):145,807
Last modified:November 1, 1996 - v1
Checksum:i54A736ED250A5138
GO

Sequence cautioni

The sequence BAA11504 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057503237R → H.Corresponds to variant rs2272881dbSNPEnsembl.1
Natural variantiVAR_057504552S → P.Corresponds to variant rs3814621dbSNPEnsembl.1
Natural variantiVAR_057505652K → R.Corresponds to variant rs787795dbSNPEnsembl.1
Natural variantiVAR_057506884M → V.Corresponds to variant rs2419109dbSNPEnsembl.1
Natural variantiVAR_072539930R → H in ACC; fibroblasts show CDKN1A-mediated G1/S phase transition defect with a significantly reduced cell proliferation rate compared to controls; in vitro scratch assay reveal an increased cell migration rate. 1 PublicationCorresponds to variant rs587777706dbSNPEnsembl.1
Natural variantiVAR_0575071141V → I.1 PublicationCorresponds to variant rs12764004dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D80009 mRNA. Translation: BAA11504.2. Different initiation.
AL022344 Genomic DNA. Translation: CAI23617.1.
CH471160 Genomic DNA. Translation: EAW86571.1.
BC043345 mRNA. Translation: AAH43345.1.
BC150252 mRNA. Translation: AAI50253.1.
CCDSiCCDS7199.1.
RefSeqiNP_055568.3. NM_014753.3.
XP_005271903.1. XM_005271846.3.
XP_011538704.1. XM_011540402.2.
UniGeneiHs.10848.

Genome annotation databases

EnsembliENST00000374518; ENSP00000363642; ENSG00000165733.
GeneIDi9790.
KEGGihsa:9790.
UCSCiuc001jaj.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D80009 mRNA. Translation: BAA11504.2. Different initiation.
AL022344 Genomic DNA. Translation: CAI23617.1.
CH471160 Genomic DNA. Translation: EAW86571.1.
BC043345 mRNA. Translation: AAH43345.1.
BC150252 mRNA. Translation: AAI50253.1.
CCDSiCCDS7199.1.
RefSeqiNP_055568.3. NM_014753.3.
XP_005271903.1. XM_005271846.3.
XP_011538704.1. XM_011540402.2.
UniGeneiHs.10848.

3D structure databases

ProteinModelPortaliQ14692.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115134. 23 interactors.
IntActiQ14692. 9 interactors.
MINTiMINT-3030112.
STRINGi9606.ENSP00000363642.

PTM databases

iPTMnetiQ14692.
PhosphoSitePlusiQ14692.
SwissPalmiQ14692.

Polymorphism and mutation databases

BioMutaiBMS1.
DMDMi27151474.

Proteomic databases

EPDiQ14692.
MaxQBiQ14692.
PaxDbiQ14692.
PeptideAtlasiQ14692.
PRIDEiQ14692.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374518; ENSP00000363642; ENSG00000165733.
GeneIDi9790.
KEGGihsa:9790.
UCSCiuc001jaj.4. human.

Organism-specific databases

CTDi9790.
DisGeNETi9790.
GeneCardsiBMS1.
H-InvDBHIX0059462.
HIX0172328.
HIX0172329.
HGNCiHGNC:23505. BMS1.
HPAiHPA036589.
HPA043081.
MalaCardsiBMS1.
MIMi107600. phenotype.
611448. gene.
neXtProtiNX_Q14692.
OpenTargetsiENSG00000165733.
Orphaneti1114. Circumscribed cutaneous aplasia of the vertex.
PharmGKBiPA162377556.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1951. Eukaryota.
COG5192. LUCA.
GeneTreeiENSGT00550000074774.
HOGENOMiHOG000166882.
HOVERGENiHBG023890.
InParanoidiQ14692.
KOiK14569.
OMAiWQGMKTV.
OrthoDBiEOG091G02GX.
PhylomeDBiQ14692.
TreeFamiTF105751.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165733-MONOMER.
ReactomeiR-HSA-6790901. rRNA modification in the nucleus and cytosol.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus and cytosol.

Miscellaneous databases

ChiTaRSiBMS1. human.
GenomeRNAii9790.
PROiQ14692.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165733.
CleanExiHS_BMS1.
GenevisibleiQ14692. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR012948. AARP2CN.
IPR007034. BMS1_TSR1_C.
IPR030387. G_Bms1/Tsr1_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF08142. AARP2CN. 1 hit.
PF04950. RIBIOP_C. 1 hit.
[Graphical view]
SMARTiSM00785. AARP2CN. 1 hit.
SM01362. DUF663. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51714. G_BMS1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBMS1_HUMAN
AccessioniPrimary (citable) accession number: Q14692
Secondary accession number(s): Q5QPT5, Q86XJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: November 1, 1996
Last modified: November 30, 2016
This is version 143 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.