UniProtKB - Q38SD2 (LRRK1_HUMAN)

BLAST

>sp|Q38SD2|LRRK1_HUMAN Leucine-rich repeat serine/threonine-protein kinase 1 OS=Homo sapiens OX=9606 GN=LRRK1 PE=1 SV=3
MAGMSQRPPSMYWCVGPEESAVCPERAMETLNGAGDTGGKPSTRGGDPAARSRRTEGIRA
AYRRGDRGGARDLLEEACDQCASQLEKGQLLSIPAAYGDLEMVRYLLSKRLVELPTEPTD
DNPAVVAAYFGHTAVVQELLESLPGPCSPQRLLNWMLALACQRGHLGVVKLLVLTHGADP
ESYAVRKNEFPVIVRLPLYAAIKSGNEDIAIFLLRHGAYFCSYILLDSPDPSKHLLRKYF
IEASPLPSSYPGKTALRVKWSHLRLPWVDLDWLIDISCQITELDLSANCLATLPSVIPWG
LINLRKLNLSDNHLGELPGVQSSDEIICSRLLEIDISSNKLSHLPPGFLHLSKLQKLTAS
KNCLEKLFEEENATNWIGLRKLQELDISDNKLTELPALFLHSFKSLNSLNVSRNNLKVFP
DPWACPLKCCKASRNALECLPDKMAVFWKNHLKDVDFSENALKEVPLGLFQLDALMFLRL
QGNQLAALPPQEKWTCRQLKTLDLSRNQLGKNEDGLKTKRIAFFTTRGRQRSGTEAASVL
EFPAFLSESLEVLCLNDNHLDTVPPSVCLLKSLSELYLGNNPGLRELPPELGQLGNLWQL
DTEDLTISNVPAEIQKEGPKAMLSYLRAQLRKAEKCKLMKMIIVGPPRQGKSTLLEILQT
GRAPQVVHGEATIRTTKWELQRPAGSRAKVESVEFNVWDIGGPASMATVNQCFFTDKALY
VVVWNLALGEEAVANLQFWLLNIEAKAPNAVVLVVGTHLDLIEAKFRVERIATLRAYVLA
LCRSPSGSRATGFPDITFKHLHEISCKSLEGQEGLRQLIFHVTCSMKDVGSTIGCQRLAG
RLIPRSYLSLQEAVLAEQQRRSRDDDVQYLTDRQLEQLVEQTPDNDIKDYEDLQSAISFL
IETGTLLHFPDTSHGLRNLYFLDPIWLSECLQRIFNIKGSRSVAKNGVIRAEDLRMLLVG
TGFTQQTEEQYFQFLAKFEIALPVANDSYLLPHLLPSKPGLDTHGMRHPTANTIQRVFKM
SFVPVGFWQRFIARMLISLAEMDLQLFENKKNTKSRNRKVTIYSFTGNQRNRCSTFRVKR
NQTIYWQEGLLVTFDGGYLSVESSDVNWKKKKSGGMKIVCQSEVRDFSAMAFITDHVNSL
IDQWFPALTATESDGTPLMEQYVPCPVCETAWAQHTDPSEKSEDVQYFDMEDCVLTAIER
DFISCPRHPDLPVPLQELVPELFMTDFPARLFLENSKLEHSEDEGSVLGQGGSGTVIYRA
RYQGQPVAVKRFHIKKFKNFANVPADTMLRHLRATDAMKNFSEFRQEASMLHALQHPCIV
ALIGISIHPLCFALELAPLSSLNTVLSENARDSSFIPLGHMLTQKIAYQIASGLAYLHKK
NIIFCDLKSDNILVWSLDVKEHINIKLSDYGISRQSFHEGALGVEGTPGYQAPEIRPRIV
YDEKVDMFSYGMVLYELLSGQRPALGHHQLQIAKKLSKGIRPVLGQPEEVQFRRLQALMM
ECWDTKPEKRPLALSVVSQMKDPTFATFMYELCCGKQTAFFSSQGQEYTVVFWDGKEESR
NYTVVNTEKGLMEVQRMCCPGMKVSCQLQVQRSLWTATEDQKIYIYTLKGMCPLNTPQQA
LDTPAVVTCFLAVPVIKKNSYLVLAGLADGLVAVFPVVRGTPKDSCSYLCSHTANRSKFS
IADEDARQNPYPVKAMEVVNSGSEVWYSNGPGLLVIDCASLEICRRLEPYMAPSMVTSVV
CSSEGRGEEVVWCLDDKANSLVMYHSTTYQLCARYFCGVPSPLRDMFPVRPLDTEPPAAS
HTANPKVPEGDSIADVSIMYSEELGTQILIHQESLTDYCSMSSYSSSPPRQAARSPSSLP
SSPASSSSVPFSTDCEDSDMLHTPGAASDRSEHDLTPMDGETFSQHLQAVKILAVRDLIW
VPRRGGDVIVIGLEKDSGAQRGRVIAVLKARELTPHGVLVDAAVVAKDTVVCTFENENTE
WCLAVWRGWGAREFDIFYQSYEELGRLEACTRKRR

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History
Entry version 138 (07 Nov 2018)
Sequence version 3 (30 Nov 2010)
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Protein

Leucine-rich repeat serine/threonine-protein kinase 1

Gene

LRRK1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Catalytic activityⁱ

ATP + a protein = ADP + a phosphoprotein.1 Publication

Cofactorⁱ

Mg²⁺1 Publication, Mn²⁺1 Publication

Activity regulationⁱ

Binding of GTP stimulates kinase activity.1 Publication

Sites

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Binding siteⁱ	1270	ATPPROSITE-ProRule annotation		1
Active siteⁱ	1386	Proton acceptorPROSITE-ProRule annotation		1

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Nucleotide bindingⁱ	1248 – 1256	ATPPROSITE-ProRule annotation		9

GO - Molecular functionⁱ

ATP binding Source: UniProtKB-KW
GTP binding Source: UniProtKB-KW
identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 19712061
- 22952686
metal ion binding Source: UniProtKB-KW
protein serine/threonine kinase activity Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

bone resorption Source: Ensembl
negative regulation of peptidyl-tyrosine phosphorylation Source: Ensembl
osteoclast development Source: Ensembl
positive regulation of canonical Wnt signaling pathway
Source: ParkinsonsUK-UCL
Inferred from genetic interactionⁱ
- 22899650
positive regulation of intracellular signal transduction Source: Ensembl
positive regulation of peptidyl-tyrosine phosphorylation Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Kinase, Serine/threonine-protein kinase, Transferase
Ligand	ATP-binding, GTP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

SignaLinkⁱ	Q38SD2

SignaLinkⁱ

Q38SD2

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Leucine-rich repeat serine/threonine-protein kinase 1 (EC:2.7.11.1)
Gene namesⁱ	Name:LRRK1Imported Synonyms:KIAA1790Imported
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 15

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000154237.12
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:18608 LRRK1
MIMⁱ	610986 gene
neXtProtⁱ	NX_Q38SD2

Keywords - Cellular componentⁱ

Cytoplasm

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	651	K → A: Loss of GTP/GDP-binding. 1 Publication	1
Mutagenesisⁱ	746	K → G: No effect on GTP-binding but reduction in subsequent stimulation of kinase activity. 1 Publication	1
Mutagenesisⁱ	1022	F → C: No effect on GTP-binding but loss of subsequent stimulation of kinase activity. 1 Publication	1
Mutagenesisⁱ	1270	K → W: Loss of autophosphorylation. 1 Publication	1
Mutagenesisⁱ	1412	I → T: No effect on GTP-binding but reduction in subsequent stimulation of kinase activity. 1 Publication	1

Organism-specific databases

DisGeNET More...DisGeNETⁱ	79705
MalaCards human disease database More...MalaCardsⁱ	LRRK1
Open Targets More...OpenTargetsⁱ	ENSG00000154237
Orphanetⁱ	500548 Osteosclerotic metaphyseal dysplasia
PharmGKBⁱ	PA134892363

Polymorphism and mutation databases

BioMutaⁱ	LRRK1
DMDMⁱ	313104220

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000233377	1 – 2015	Leucine-rich repeat serine/threonine-protein kinase 1Add BLAST		2015

Proteomic databases

EPDⁱ	Q38SD2
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q38SD2
PaxDbⁱ	Q38SD2
PeptideAtlas More...PeptideAtlasⁱ	Q38SD2
PRIDEⁱ	Q38SD2
ProteomicsDBⁱ	61644 61645 [Q38SD2-2]

PTM databases

iPTMnetⁱ	Q38SD2
PhosphoSitePlusⁱ	Q38SD2

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000154237 Expressed in 169 organ(s), highest expression level in lymph node
CleanExⁱ	HS_LRRK1
ExpressionAtlasⁱ	Q38SD2 baseline and differential
Genevisibleⁱ	Q38SD2 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA010537

HPAⁱ

HPA010537

Interactionⁱ

Subunit structureⁱ

Homodimer.1 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
itself		3	EBI-1050422,EBI-1050422
ABL1	P00519	3	EBI-1050422,EBI-375543
BAG5	Q9UL15	3	EBI-1050422,EBI-356517
CDK5RAP2	Q96SN8	2	EBI-16165296,EBI-308374
DAPK1	P53355	2	EBI-1050422,EBI-358616
EGFR	P00533	2	EBI-1050422,EBI-297353
LRRK2	Q5S007	5	EBI-1050422,EBI-5323863

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 19712061
- 22952686

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	122823, 34 interactors
Database of interacting proteins More...DIPⁱ	DIP-50235N
IntActⁱ	Q38SD2, 80 interactors
STRINGⁱ	9606.ENSP00000373600

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q38SD2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Repeatⁱ	86 – 116	ANK 1Add BLAST	31
Repeatⁱ	119 – 148	ANK 2Add BLAST	30
Repeatⁱ	152 – 182	ANK 3Add BLAST	31
Repeatⁱ	193 – 222	ANK 4Add BLAST	30
Repeatⁱ	279 – 300	LRR 1Add BLAST	22
Repeatⁱ	303 – 324	LRR 2Add BLAST	22
Repeatⁱ	330 – 351	LRR 3Add BLAST	22
Repeatⁱ	353 – 374	LRR 4Add BLAST	22
Repeatⁱ	381 – 402	LRR 5Add BLAST	22
Repeatⁱ	405 – 426	LRR 6Add BLAST	22
Repeatⁱ	427 – 447	LRR 7Add BLAST	21
Repeatⁱ	451 – 472	LRR 8Add BLAST	22
Repeatⁱ	474 – 495	LRR 9Add BLAST	22
Repeatⁱ	498 – 519	LRR 10Add BLAST	22
Repeatⁱ	549 – 570	LRR 11Add BLAST	22
Repeatⁱ	572 – 594	LRR 12Add BLAST	23
Repeatⁱ	596 – 617	LRR 13Add BLAST	22
Domainⁱ	632 – 826	RocPROSITE-ProRule annotationAdd BLAST	195
Domainⁱ	1242 – 1525	Protein kinasePROSITE-ProRule annotationAdd BLAST	284

Sequence similaritiesⁱ

Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. ROCO subfamily.Curated

Keywords - Domainⁱ

ANK repeat, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGⁱ	KOG0192 Eukaryota KOG0619 Eukaryota COG4886 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00930000150960
HOVERGENⁱ	HBG081936
InParanoidⁱ	Q38SD2
KEGG Orthology (KO) More...KOⁱ	K08843
OMAⁱ	HSDATIR
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G003N
PhylomeDBⁱ	Q38SD2
TreeFamⁱ	TF313679

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00204 ANK, 1 hit
Gene3Dⁱ	1.25.40.20, 1 hit 3.80.10.10, 3 hits
InterProⁱ	View protein in InterPro IPR002110 Ankyrin_rpt IPR020683 Ankyrin_rpt-contain_dom IPR036770 Ankyrin_rpt-contain_sf IPR032171 COR IPR011009 Kinase-like_dom_sf IPR001611 Leu-rich_rpt IPR003591 Leu-rich_rpt_typical-subtyp IPR032675 LRR_dom_sf IPR027417 P-loop_NTPase IPR000719 Prot_kinase_dom IPR020859 ROC_dom IPR036322 WD40_repeat_dom_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF16095 COR, 1 hit PF00069 Pkinase, 1 hit
SMARTⁱ	View protein in SMART SM00248 ANK, 3 hits SM00369 LRR_TYP, 8 hits SM00220 S_TKc, 1 hit
SUPFAMⁱ	SSF48403 SSF48403, 1 hit SSF50978 SSF50978, 1 hit SSF52540 SSF52540, 1 hit SSF56112 SSF56112, 1 hit
PROSITEⁱ	View protein in PROSITE PS50297 ANK_REP_REGION, 1 hit PS51450 LRR, 11 hits PS50011 PROTEIN_KINASE_DOM, 1 hit PS51424 ROC, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q38SD2-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGMSQRPPS MYWCVGPEES AVCPERAMET LNGAGDTGGK PSTRGGDPAA 
        60         70         80         90        100
RSRRTEGIRA AYRRGDRGGA RDLLEEACDQ CASQLEKGQL LSIPAAYGDL 
       110        120        130        140        150
EMVRYLLSKR LVELPTEPTD DNPAVVAAYF GHTAVVQELL ESLPGPCSPQ 
       160        170        180        190        200
RLLNWMLALA CQRGHLGVVK LLVLTHGADP ESYAVRKNEF PVIVRLPLYA 
       210        220        230        240        250
AIKSGNEDIA IFLLRHGAYF CSYILLDSPD PSKHLLRKYF IEASPLPSSY 
       260        270        280        290        300
PGKTALRVKW SHLRLPWVDL DWLIDISCQI TELDLSANCL ATLPSVIPWG 
       310        320        330        340        350
LINLRKLNLS DNHLGELPGV QSSDEIICSR LLEIDISSNK LSHLPPGFLH 
       360        370        380        390        400
LSKLQKLTAS KNCLEKLFEE ENATNWIGLR KLQELDISDN KLTELPALFL 
       410        420        430        440        450
HSFKSLNSLN VSRNNLKVFP DPWACPLKCC KASRNALECL PDKMAVFWKN 
       460        470        480        490        500
HLKDVDFSEN ALKEVPLGLF QLDALMFLRL QGNQLAALPP QEKWTCRQLK 
       510        520        530        540        550
TLDLSRNQLG KNEDGLKTKR IAFFTTRGRQ RSGTEAASVL EFPAFLSESL 
       560        570        580        590        600
EVLCLNDNHL DTVPPSVCLL KSLSELYLGN NPGLRELPPE LGQLGNLWQL 
       610        620        630        640        650
DTEDLTISNV PAEIQKEGPK AMLSYLRAQL RKAEKCKLMK MIIVGPPRQG 
       660        670        680        690        700
KSTLLEILQT GRAPQVVHGE ATIRTTKWEL QRPAGSRAKV ESVEFNVWDI 
       710        720        730        740        750
GGPASMATVN QCFFTDKALY VVVWNLALGE EAVANLQFWL LNIEAKAPNA 
       760        770        780        790        800
VVLVVGTHLD LIEAKFRVER IATLRAYVLA LCRSPSGSRA TGFPDITFKH 
       810        820        830        840        850
LHEISCKSLE GQEGLRQLIF HVTCSMKDVG STIGCQRLAG RLIPRSYLSL 
       860        870        880        890        900
QEAVLAEQQR RSRDDDVQYL TDRQLEQLVE QTPDNDIKDY EDLQSAISFL 
       910        920        930        940        950
IETGTLLHFP DTSHGLRNLY FLDPIWLSEC LQRIFNIKGS RSVAKNGVIR 
       960        970        980        990       1000
AEDLRMLLVG TGFTQQTEEQ YFQFLAKFEI ALPVANDSYL LPHLLPSKPG 
      1010       1020       1030       1040       1050
LDTHGMRHPT ANTIQRVFKM SFVPVGFWQR FIARMLISLA EMDLQLFENK 
      1060       1070       1080       1090       1100
KNTKSRNRKV TIYSFTGNQR NRCSTFRVKR NQTIYWQEGL LVTFDGGYLS 
      1110       1120       1130       1140       1150
VESSDVNWKK KKSGGMKIVC QSEVRDFSAM AFITDHVNSL IDQWFPALTA 
      1160       1170       1180       1190       1200
TESDGTPLME QYVPCPVCET AWAQHTDPSE KSEDVQYFDM EDCVLTAIER 
      1210       1220       1230       1240       1250
DFISCPRHPD LPVPLQELVP ELFMTDFPAR LFLENSKLEH SEDEGSVLGQ 
      1260       1270       1280       1290       1300
GGSGTVIYRA RYQGQPVAVK RFHIKKFKNF ANVPADTMLR HLRATDAMKN 
      1310       1320       1330       1340       1350
FSEFRQEASM LHALQHPCIV ALIGISIHPL CFALELAPLS SLNTVLSENA 
      1360       1370       1380       1390       1400
RDSSFIPLGH MLTQKIAYQI ASGLAYLHKK NIIFCDLKSD NILVWSLDVK 
      1410       1420       1430       1440       1450
EHINIKLSDY GISRQSFHEG ALGVEGTPGY QAPEIRPRIV YDEKVDMFSY 
      1460       1470       1480       1490       1500
GMVLYELLSG QRPALGHHQL QIAKKLSKGI RPVLGQPEEV QFRRLQALMM 
      1510       1520       1530       1540       1550
ECWDTKPEKR PLALSVVSQM KDPTFATFMY ELCCGKQTAF FSSQGQEYTV 
      1560       1570       1580       1590       1600
VFWDGKEESR NYTVVNTEKG LMEVQRMCCP GMKVSCQLQV QRSLWTATED 
      1610       1620       1630       1640       1650
QKIYIYTLKG MCPLNTPQQA LDTPAVVTCF LAVPVIKKNS YLVLAGLADG 
      1660       1670       1680       1690       1700
LVAVFPVVRG TPKDSCSYLC SHTANRSKFS IADEDARQNP YPVKAMEVVN 
      1710       1720       1730       1740       1750
SGSEVWYSNG PGLLVIDCAS LEICRRLEPY MAPSMVTSVV CSSEGRGEEV 
      1760       1770       1780       1790       1800
VWCLDDKANS LVMYHSTTYQ LCARYFCGVP SPLRDMFPVR PLDTEPPAAS 
      1810       1820       1830       1840       1850
HTANPKVPEG DSIADVSIMY SEELGTQILI HQESLTDYCS MSSYSSSPPR 
      1860       1870       1880       1890       1900
QAARSPSSLP SSPASSSSVP FSTDCEDSDM LHTPGAASDR SEHDLTPMDG 
      1910       1920       1930       1940       1950
ETFSQHLQAV KILAVRDLIW VPRRGGDVIV IGLEKDSGAQ RGRVIAVLKA 
      1960       1970       1980       1990       2000
RELTPHGVLV DAAVVAKDTV VCTFENENTE WCLAVWRGWG AREFDIFYQS 
      2010 
YEELGRLEAC TRKRR

Note: No experimental confirmation available.Curated

Length:2,015

Mass (Da):225,393

Last modified:November 30, 2010 - v3

Checksum:ⁱ38E77EDC7C84583B

Isoform 21 Publication (identifier: Q38SD2-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
255-264: ALRVKWSHLR → VSSHCLWSVF
265-2015: Missing.

« Hide

        10         20         30         40         50
MAGMSQRPPS MYWCVGPEES AVCPERAMET LNGAGDTGGK PSTRGGDPAA 
        60         70         80         90        100
RSRRTEGIRA AYRRGDRGGA RDLLEEACDQ CASQLEKGQL LSIPAAYGDL 
       110        120        130        140        150
EMVRYLLSKR LVELPTEPTD DNPAVVAAYF GHTAVVQELL ESLPGPCSPQ 
       160        170        180        190        200
RLLNWMLALA CQRGHLGVVK LLVLTHGADP ESYAVRKNEF PVIVRLPLYA 
       210        220        230        240        250
AIKSGNEDIA IFLLRHGAYF CSYILLDSPD PSKHLLRKYF IEASPLPSSY 
       260 
PGKTVSSHCL WSVF

Note: No experimental confirmation available.Curated

Show »

Length:264

Mass (Da):28,848

Checksum:ⁱ8E95B1F50F1DB2E4

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H0YEW1	H0YEW1_HUMAN	Leucine-rich repeat serine/threonin... Leucine-rich repeat serine/threonine-protein kinase 1	LRRK1	660	Annotation score:
E9PK39	E9PK39_HUMAN	Leucine-rich repeat serine/threonin... Leucine-rich repeat serine/threonine-protein kinase 1	LRRK1	650	Annotation score:
E9PMK9	E9PMK9_HUMAN	Leucine-rich repeat serine/threonin... Leucine-rich repeat serine/threonine-protein kinase 1	LRRK1	689	Annotation score:
E9PLF8	E9PLF8_HUMAN	Leucine-rich repeat serine/threonin... Leucine-rich repeat serine/threonine-protein kinase 1	LRRK1	32	Annotation score:

Sequence cautionⁱ

The sequence AAY67799 differs from that shown. The cDNA contains a duplication of exon 3.Curated

The sequence BAB15547 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

The sequence BAC85472 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	203	K → R in BAC85472 (PubMed:14702039).Curated	1
Sequence conflictⁱ	1938	G → E in AAH66655 (PubMed:15489334).Curated	1
Sequence conflictⁱ	1938	G → E in BAB47419 (PubMed:11347906).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_040674	1803	A → T1 Publication	1
Natural variantⁱVAR_040675	1824	L → F1 Publication	1
Natural variantⁱVAR_040676	1847	S → N1 Publication	1
Natural variantⁱVAR_040677	1927	D → G1 Publication	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_040119	255 – 264	ALRVKWSHLR → VSSHCLWSVF in isoform 2. 1 Publication		10
Alternative sequenceⁱVSP_040120	265 – 2015	Missing in isoform 2. 1 PublicationAdd BLAST		1751

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AC090907 Genomic DNA No translation available. BC066655 mRNA Translation: AAH66655.1 BC068080 mRNA Translation: AAH68080.1 DQ013130 mRNA Translation: AAY67799.1 Sequence problems. AK026772 mRNA Translation: BAB15547.1 Different initiation. AK130975 mRNA Translation: BAC85472.1 Different initiation. AK131075 mRNA Translation: BAC85125.1 AB058693 mRNA Translation: BAB47419.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS42086.1 [Q38SD2-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_078928.3, NM_024652.5 [Q38SD2-1] XP_011520314.1, XM_011522012.2 [Q38SD2-1] XP_011520315.1, XM_011522013.2 [Q38SD2-1]
UniGeneⁱ	Hs.407918

Genome annotation databases

Ensemblⁱ	ENST00000388948; ENSP00000373600; ENSG00000154237 [Q38SD2-1] ENST00000532029; ENSP00000433268; ENSG00000154237 [Q38SD2-2]
GeneIDⁱ	79705
KEGGⁱ	hsa:79705
UCSC genome browser More...UCSCⁱ	uc002bwq.2 human [Q38SD2-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q38SD2	Leucine-rich repeat serine/threonine-protein kinase 1		HUMAN		650	UniRef100_Q38SD2
cDNA FLJ37237 fis, clone BRAMY2002638, highly similar to Leucine-rich repeat serine/threonine-protein kinase 1		HUMAN		320
Leucine-rich repeat serine/threonine-protein kinase 1		HUMAN		689
UPI0005CFFA02		HUMAN		1914
UPI0000366AB3		HUMAN		1310

Protein	Similar proteins		Species	Score	Length	Source
Q38SD2	Leucine-rich repeat serine/threonine-protein kinase 1		HUMAN		650	UniRef90_Q38SD2
Uncharacterized protein		RHIBE		2026
Leucine rich repeat kinase 1		CANLF		2022
Uncharacterized protein		FELCA		2017
Uncharacterized protein		PAPAN		2016
+106
Q38SD2-2	LRRK1 isoform 4		PONAB		264	UniRef90_Q38SD2-2
LRRK1 isoform 4		PANTR		264

Protein	Similar proteins		Species	Score	Length	Source
Q38SD2	Leucine-rich repeat serine/threonine-protein kinase 1		MOUSE		2014	UniRef50_Q38SD2
Leucine-rich repeat serine/threonine-protein kinase 1		HUMAN		650
Uncharacterized protein		RHIBE		2026
Leucine rich repeat kinase 1		CANLF		2022
Uncharacterized protein		FELCA		2017
+443
Q38SD2-2	LRRK1 isoform 4		PANTR		264	UniRef50_Q38SD2-2
LRRK1 isoform 4		PONAB		264
Leucine-rich repeat serine/threonine-protein kinase 1		CRIGR		235
UPI000A3283CA		MESAU		287
UPI000A31EBCD		MESAU		251
+1

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AC090907 Genomic DNA No translation available. BC066655 mRNA Translation: AAH66655.1 BC068080 mRNA Translation: AAH68080.1 DQ013130 mRNA Translation: AAY67799.1 Sequence problems. AK026772 mRNA Translation: BAB15547.1 Different initiation. AK130975 mRNA Translation: BAC85472.1 Different initiation. AK131075 mRNA Translation: BAC85125.1 AB058693 mRNA Translation: BAB47419.1
CCDSⁱ	CCDS42086.1 [Q38SD2-1]
RefSeqⁱ	NP_078928.3, NM_024652.5 [Q38SD2-1] XP_011520314.1, XM_011522012.2 [Q38SD2-1] XP_011520315.1, XM_011522013.2 [Q38SD2-1]
UniGeneⁱ	Hs.407918

3D structure databases

ProteinModelPortalⁱ	Q38SD2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	122823, 34 interactors
DIPⁱ	DIP-50235N
IntActⁱ	Q38SD2, 80 interactors
STRINGⁱ	9606.ENSP00000373600

PTM databases

iPTMnetⁱ	Q38SD2
PhosphoSitePlusⁱ	Q38SD2

Polymorphism and mutation databases

BioMutaⁱ	LRRK1
DMDMⁱ	313104220

Proteomic databases

EPDⁱ	Q38SD2
MaxQBⁱ	Q38SD2
PaxDbⁱ	Q38SD2
PeptideAtlasⁱ	Q38SD2
PRIDEⁱ	Q38SD2
ProteomicsDBⁱ	61644 61645 [Q38SD2-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	79705
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000388948; ENSP00000373600; ENSG00000154237 [Q38SD2-1] ENST00000532029; ENSP00000433268; ENSG00000154237 [Q38SD2-2]
GeneIDⁱ	79705
KEGGⁱ	hsa:79705
UCSCⁱ	uc002bwq.2 human [Q38SD2-1]

Organism-specific databases

CTDⁱ	79705
DisGeNETⁱ	79705
EuPathDBⁱ	HostDB:ENSG00000154237.12
GeneCardsⁱ	LRRK1
H-InvDBⁱ	HIX0012627
HGNCⁱ	HGNC:18608 LRRK1
HPAⁱ	HPA010537
MalaCardsⁱ	LRRK1
MIMⁱ	610986 gene
neXtProtⁱ	NX_Q38SD2
OpenTargetsⁱ	ENSG00000154237
Orphanetⁱ	500548 Osteosclerotic metaphyseal dysplasia
PharmGKBⁱ	PA134892363
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0192 Eukaryota KOG0619 Eukaryota COG4886 LUCA
GeneTreeⁱ	ENSGT00930000150960
HOVERGENⁱ	HBG081936
InParanoidⁱ	Q38SD2
KOⁱ	K08843
OMAⁱ	HSDATIR
OrthoDBⁱ	EOG091G003N
PhylomeDBⁱ	Q38SD2
TreeFamⁱ	TF313679

Enzyme and pathway databases

SignaLinkⁱ	Q38SD2

SignaLinkⁱ

Q38SD2

Miscellaneous databases

ChiTaRSⁱ	LRRK1 human
GeneWikiⁱ	LRRK1
GenomeRNAiⁱ	79705
Protein Ontology More...PROⁱ	PR:Q38SD2
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000154237 Expressed in 169 organ(s), highest expression level in lymph node
CleanExⁱ	HS_LRRK1
ExpressionAtlasⁱ	Q38SD2 baseline and differential
Genevisibleⁱ	Q38SD2 HS

Family and domain databases

CDDⁱ	cd00204 ANK, 1 hit
Gene3Dⁱ	1.25.40.20, 1 hit 3.80.10.10, 3 hits
InterProⁱ	View protein in InterPro IPR002110 Ankyrin_rpt IPR020683 Ankyrin_rpt-contain_dom IPR036770 Ankyrin_rpt-contain_sf IPR032171 COR IPR011009 Kinase-like_dom_sf IPR001611 Leu-rich_rpt IPR003591 Leu-rich_rpt_typical-subtyp IPR032675 LRR_dom_sf IPR027417 P-loop_NTPase IPR000719 Prot_kinase_dom IPR020859 ROC_dom IPR036322 WD40_repeat_dom_sf
Pfamⁱ	View protein in Pfam PF16095 COR, 1 hit PF00069 Pkinase, 1 hit
SMARTⁱ	View protein in SMART SM00248 ANK, 3 hits SM00369 LRR_TYP, 8 hits SM00220 S_TKc, 1 hit
SUPFAMⁱ	SSF48403 SSF48403, 1 hit SSF50978 SSF50978, 1 hit SSF52540 SSF52540, 1 hit SSF56112 SSF56112, 1 hit
PROSITEⁱ	View protein in PROSITE PS50297 ANK_REP_REGION, 1 hit PS51450 LRR, 11 hits PS50011 PROTEIN_KINASE_DOM, 1 hit PS51424 ROC, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	LRRK1_HUMAN
Accessionⁱ	Q38SD2Primary (citable) accession number: Q38SD2 Secondary accession number(s): Q6NVH5 , Q6NYC0, Q6ZNL9, Q6ZNM9, Q96JN5, Q9H5S3
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	May 2, 2006
	Last sequence update:	November 30, 2010
	Last modified:	November 7, 2018
	This is version 138 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM
Human and mouse protein kinases
Human and mouse protein kinases: classification and index

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UniProtKB - Q38SD2 (LRRK1_HUMAN)

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Leucine-rich repeat serine/threonine-protein kinase 1

LRRK1

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<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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Protocols and materials databases

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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ