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Protein

Leucine-rich repeat-containing protein 1

Gene

LRRC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein 1
Alternative name(s):
LANO adapter protein
LAP and no PDZ protein
Gene namesi
Name:LRRC1
Synonyms:LANO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:14307. LRRC1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30460.

Polymorphism and mutation databases

BioMutaiLRRC1.
DMDMi50401149.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 524524Leucine-rich repeat-containing protein 1PRO_0000084489Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei480 – 4801PhosphothreonineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BTT6.
MaxQBiQ9BTT6.
PaxDbiQ9BTT6.
PeptideAtlasiQ9BTT6.
PRIDEiQ9BTT6.

PTM databases

iPTMnetiQ9BTT6.
PhosphoSiteiQ9BTT6.
SwissPalmiQ9BTT6.

Expressioni

Tissue specificityi

Expressed strongly in testis and placenta, followed by heart, lung, kidney, thyroid, trachea, colon, prostate and pancreas.1 Publication

Gene expression databases

BgeeiQ9BTT6.
CleanExiHS_LRRC1.
ExpressionAtlasiQ9BTT6. baseline and differential.
GenevisibleiQ9BTT6. HS.

Organism-specific databases

HPAiHPA031602.
HPA031603.
HPA031604.

Interactioni

Subunit structurei

Interacts with DLG1 and DLG4. May form a complex with DLG1 and ERBB2IP, where interaction between LRRC1 and ERBB2IP is indirect.1 Publication

Protein-protein interaction databases

BioGridi120522. 24 interactions.
IntActiQ9BTT6. 11 interactions.
MINTiMINT-1423850.
STRINGi9606.ENSP00000359925.

Structurei

3D structure databases

ProteinModelPortaliQ9BTT6.
SMRiQ9BTT6. Positions 41-391.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati11 – 3424LRR 1Add
BLAST
Repeati35 – 5824LRR 2Add
BLAST
Repeati60 – 8122LRR 3Add
BLAST
Repeati83 – 10523LRR 4Add
BLAST
Repeati107 – 12620LRR 5Add
BLAST
Repeati127 – 14923LRR 6Add
BLAST
Repeati150 – 17223LRR 7Add
BLAST
Repeati173 – 19624LRR 8Add
BLAST
Repeati198 – 21821LRR 9Add
BLAST
Repeati219 – 24224LRR 10Add
BLAST
Repeati244 – 26421LRR 11Add
BLAST
Repeati265 – 28824LRR 12Add
BLAST
Repeati290 – 31021LRR 13Add
BLAST
Repeati311 – 33424LRR 14Add
BLAST
Repeati336 – 35621LRR 15Add
BLAST
Repeati357 – 38024LRR 16Add
BLAST
Repeati382 – 40524LRR 17Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili484 – 51229Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 17 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiENOG410KCZ0. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000116557.
HOVERGENiHBG052357.
InParanoidiQ9BTT6.
OMAiHPGELKS.
PhylomeDBiQ9BTT6.
TreeFamiTF351429.

Family and domain databases

Gene3Di3.80.10.10. 3 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 3 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 13 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 16 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9BTT6-1) [UniParc]FASTAAdd 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
MFHCIPLWRC NRHVESIDKR HCSLVYVPEE IYRYARSLEE LLLDANQLRE
60 70 80 90 100
LPEQFFQLVK LRKLGLSDNE IQRLPPEIAN FMQLVELDVS RNEIPEIPES
110 120 130 140 150
ISFCKALQVA DFSGNPLTRL PESFPELQNL TCLSVNDISL QSLPENIGNL
160 170 180 190 200
YNLASLELRE NLLTYLPDSL TQLRRLEELD LGNNEIYNLP ESIGALLHLK
210 220 230 240 250
DLWLDGNQLS ELPQEIGNLK NLLCLDVSEN RLERLPEEIS GLTSLTDLVI
260 270 280 290 300
SQNLLETIPD GIGKLKKLSI LKVDQNRLTQ LPEAVGECES LTELVLTENQ
310 320 330 340 350
LLTLPKSIGK LKKLSNLNAD RNKLVSLPKE IGGCCSLTVF CVRDNRLTRI
360 370 380 390 400
PAEVSQATEL HVLDVAGNRL LHLPLSLTAL KLKALWLSDN QSQPLLTFQT
410 420 430 440 450
DTDYTTGEKI LTCVLLPQLP SEPTCQENLP RCGALENLVN DVSDEAWNER
460 470 480 490 500
AVNRVSAIRF VEDEKDEEDN ETRTLLRRAT PHPGELKHMK KTVENLRNDM
510 520
NAAKGLDSNK NEVNHAIDRV TTSV
Length:524
Mass (Da):59,242
Last modified:June 1, 2001 - v1
Checksum:iB40251635C90469C
GO
Isoform 2 (identifier: Q9BTT6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     190-197: PESIGALL → NQLEPSYI
     198-524: Missing.

Note: No experimental confirmation available.
Show »
Length:197
Mass (Da):22,943
Checksum:iEFDCA28B2728D580
GO

Sequence cautioni

The sequence BAA91801.1 differs from that shown. Reason: Frameshift at position 262. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti193 – 1931I → V.1 Publication
Corresponds to variant rs9349688 [ dbSNP | Ensembl ].
VAR_019431

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei190 – 1978PESIGALL → NQLEPSYI in isoform 2. 1 PublicationVSP_010912
Alternative sequencei198 – 524327Missing in isoform 2. 1 PublicationVSP_010913Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359380 mRNA. Translation: AAK72246.1.
AF332199 mRNA. Translation: AAK69623.1.
AK021896 mRNA. Translation: BAB13929.1.
AK001637 mRNA. Translation: BAA91801.1. Frameshift.
AL513211, AL033384 Genomic DNA. Translation: CAI17358.1.
AL033384, AL513211 Genomic DNA. Translation: CAI21666.1.
CH471081 Genomic DNA. Translation: EAX04430.1.
BC003193 mRNA. Translation: AAH03193.1.
CCDSiCCDS4953.2. [Q9BTT6-1]
RefSeqiNP_060684.4. NM_018214.4. [Q9BTT6-1]
XP_011513028.1. XM_011514726.1. [Q9BTT6-1]
UniGeneiHs.606493.
Hs.646997.

Genome annotation databases

EnsembliENST00000370888; ENSP00000359925; ENSG00000137269. [Q9BTT6-1]
ENST00000487251; ENSP00000435217; ENSG00000137269. [Q9BTT6-2]
GeneIDi55227.
KEGGihsa:55227.
UCSCiuc003pcd.2. human. [Q9BTT6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359380 mRNA. Translation: AAK72246.1.
AF332199 mRNA. Translation: AAK69623.1.
AK021896 mRNA. Translation: BAB13929.1.
AK001637 mRNA. Translation: BAA91801.1. Frameshift.
AL513211, AL033384 Genomic DNA. Translation: CAI17358.1.
AL033384, AL513211 Genomic DNA. Translation: CAI21666.1.
CH471081 Genomic DNA. Translation: EAX04430.1.
BC003193 mRNA. Translation: AAH03193.1.
CCDSiCCDS4953.2. [Q9BTT6-1]
RefSeqiNP_060684.4. NM_018214.4. [Q9BTT6-1]
XP_011513028.1. XM_011514726.1. [Q9BTT6-1]
UniGeneiHs.606493.
Hs.646997.

3D structure databases

ProteinModelPortaliQ9BTT6.
SMRiQ9BTT6. Positions 41-391.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120522. 24 interactions.
IntActiQ9BTT6. 11 interactions.
MINTiMINT-1423850.
STRINGi9606.ENSP00000359925.

PTM databases

iPTMnetiQ9BTT6.
PhosphoSiteiQ9BTT6.
SwissPalmiQ9BTT6.

Polymorphism and mutation databases

BioMutaiLRRC1.
DMDMi50401149.

Proteomic databases

EPDiQ9BTT6.
MaxQBiQ9BTT6.
PaxDbiQ9BTT6.
PeptideAtlasiQ9BTT6.
PRIDEiQ9BTT6.

Protocols and materials databases

DNASUi55227.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370888; ENSP00000359925; ENSG00000137269. [Q9BTT6-1]
ENST00000487251; ENSP00000435217; ENSG00000137269. [Q9BTT6-2]
GeneIDi55227.
KEGGihsa:55227.
UCSCiuc003pcd.2. human. [Q9BTT6-1]

Organism-specific databases

CTDi55227.
GeneCardsiLRRC1.
HGNCiHGNC:14307. LRRC1.
HPAiHPA031602.
HPA031603.
HPA031604.
MIMi608195. gene.
neXtProtiNX_Q9BTT6.
PharmGKBiPA30460.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KCZ0. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000116557.
HOVERGENiHBG052357.
InParanoidiQ9BTT6.
OMAiHPGELKS.
PhylomeDBiQ9BTT6.
TreeFamiTF351429.

Miscellaneous databases

ChiTaRSiLRRC1. human.
GenomeRNAii55227.
PROiQ9BTT6.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BTT6.
CleanExiHS_LRRC1.
ExpressionAtlasiQ9BTT6. baseline and differential.
GenevisibleiQ9BTT6. HS.

Family and domain databases

Gene3Di3.80.10.10. 3 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 3 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 13 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 16 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH DLG1 AND DLG4, COMPONENT OF A COMPLEX WITH DLG1 AND ERBBIP2.
  2. "Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5."
    Suzuki T., Morita R., Sugimoto Y., Sugawara T., Bai D.S., Alonso M.E., Medina M.T., Bailey J.N., Rasmussen A., Ramos-Peek J., Cordova S., Rubio-Donnadieu F., Ochoa A., Jara-Prado A., Inazawa J., Delgado-Escueta A.V., Yamakawa K.
    Epilepsy Res. 50:265-275(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT VAL-193.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Embryo.
  4. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  7. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-480, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiLRRC1_HUMAN
AccessioniPrimary (citable) accession number: Q9BTT6
Secondary accession number(s): Q5TGN3, Q9HAC0, Q9NVF1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: June 1, 2001
Last modified: July 6, 2016
This is version 132 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 6
    Human chromosome 6: 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.