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Protein

Ribosome biogenesis protein BMS1 homolog

Gene

BMS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Biological processRibosome biogenesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000165733.7
HGNCiHGNC:23505 BMS1
MIMi611448 gene
neXtProtiNX_Q14692

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs587777706Ensembl.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
Cross-linki43Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei188PhosphoserineCombined sources1
Cross-linki399Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki415Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei552PhosphoserineCombined sources1
Modified residuei625PhosphoserineCombined sources1
Modified residuei639PhosphoserineCombined sources1
Cross-linki646Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei708PhosphothreonineCombined sources1
Cross-linki810Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki810Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki1206Glycyl 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, 33 interactors
IntActiQ14692, 9 interactors
MINTiQ14692
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
OMAiGMPKIMG
OrthoDBiEOG091G02GX
PhylomeDBiQ14692
TreeFamiTF105751

Family and domain databases

CDDicd01882 BMS1, 1 hit
InterProiView protein in InterPro
IPR012948 AARP2CN
IPR037875 Bms1_N
IPR007034 BMS1_TSR1_C
IPR030387 G_Bms1/Tsr1_dom
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF08142 AARP2CN, 1 hit
PF04950 RIBIOP_C, 1 hit
SMARTiView protein in SMART
SM00785 AARP2CN, 1 hit
SM01362 DUF663, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51714 G_BMS1, 1 hit

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 dbSNP:rs2272881Ensembl.1
Natural variantiVAR_057504552S → P. Corresponds to variant dbSNP:rs3814621Ensembl.1
Natural variantiVAR_057505652K → R. Corresponds to variant dbSNP:rs787795Ensembl.1
Natural variantiVAR_057506884M → V. Corresponds to variant dbSNP:rs2419109Ensembl.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 dbSNP:rs587777706Ensembl.1
Natural variantiVAR_0575071141V → I1 PublicationCorresponds to variant dbSNP:rs12764004Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D80009 mRNA Translation: BAA11504.2 Different initiation.
AL022344 Genomic DNA No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiBMS1_HUMAN
AccessioniPrimary (citable) accession number: Q14692
Secondary accession number(s): Q5QPT5, Q86XJ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: November 1, 1996
Last modified: April 25, 2018
This is version 152 of the entry and version 1 of the sequence. See 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
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Main funding by: National Institutes of Health