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Protein

Leucine-rich repeat-containing protein 43

Gene

LRRC43

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein 43
Gene namesi
Name:LRRC43
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:28562. LRRC43.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671531.

Polymorphism and mutation databases

BioMutaiLRRC43.
DMDMi162416235.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 656656Leucine-rich repeat-containing protein 43PRO_0000311908Add
BLAST

Proteomic databases

PaxDbiQ8N309.
PeptideAtlasiQ8N309.
PRIDEiQ8N309.

PTM databases

iPTMnetiQ8N309.
PhosphoSiteiQ8N309.

Expressioni

Gene expression databases

BgeeiQ8N309.
CleanExiHS_LRRC43.
ExpressionAtlasiQ8N309. baseline and differential.
GenevisibleiQ8N309. HS.

Organism-specific databases

HPAiHPA047606.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000344233.

Structurei

3D structure databases

ProteinModelPortaliQ8N309.
SMRiQ8N309. Positions 81-300.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati150 – 17021LRR 1Add
BLAST
Repeati172 – 19322LRR 2Add
BLAST
Repeati196 – 21520LRR 3Add
BLAST
Repeati223 – 24422LRR 4Add
BLAST
Domaini258 – 29639LRRCTAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi350 – 41364Glu-richAdd
BLAST
Compositional biasi515 – 55339Lys-richAdd
BLAST

Sequence similaritiesi

Contains 4 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00390000008994.
HOGENOMiHOG000113371.
HOVERGENiHBG108098.
InParanoidiQ8N309.
OMAiFITYNYY.
OrthoDBiEOG77M8P8.
PhylomeDBiQ8N309.
TreeFamiTF330806.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
PfamiPF13855. LRR_8. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 5 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N309-1) [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
MEASYESESE SESEAGPGTQ RPGTGTVSAA VREHLRKLCL REFPCGAGSW
60 70 80 90 100
NKSRFLPQTW RTWRELVPRE EDVVSPGEET VEALLGLVRS RHSPWALLNN
110 120 130 140 150
SNAEDSFLRE LAIRNPLTIT DTFFYSYFRS LRVIDKKVTL VDKDLLKFLK
160 170 180 190 200
LEELVLSANR IKEVDATNLP PTLKVLELYG NEISSMECLC AHPPAGLQHL
210 220 230 240 250
GLGHNKLLGP LESLYVTANH WPNLVSLDLG FNDLTDLQSM VTSLRTLRHL
260 270 280 290 300
RLLVLQGNPL ALVPYYRGLT IDSLAQLCVL DDITVSPNEK HLFRGLSLNG
310 320 330 340 350
DLLAQEAQFV VTIGNIRGVL DTSVLDPEPR PEGPFITYNY YVTYDFVKDE
360 370 380 390 400
EGEMNESAGV LAEIVKPSPS LELLVEESPE EVVEDVIEDI VEEVTEEVEG
410 420 430 440 450
SLESEVEESG ESELSVISGP STILQMPRAS AEELAKLRLR IDPRLCPSPG
460 470 480 490 500
TVLFSTAHKP WAEVIPCSYE MQHSLRDLVP LKAFLLAGTT VTIVEEKILS
510 520 530 540 550
WPVVLPAVDS PLSAKKGKGE KDKKGKEKDR TGKGEKEPAK EWKVLKKKKE
560 570 580 590 600
PPKELRQDPP ILQVLGRGLV ILEPLLAGEP LVSTVCNFGV VRTLTSDRLT
610 620 630 640 650
LARDSKKIKK VAKKEKPKAV IPIYEGDYHP EPLTVEVQIQ LNQCRSAEEA

LRMFAV
Note: No experimental confirmation available.
Length:656
Mass (Da):73,022
Last modified:December 4, 2007 - v2
Checksum:i3A196CBB6D571471
GO
Isoform 2 (identifier: Q8N309-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-185: Missing.

Show »
Length:471
Mass (Da):52,069
Checksum:i79AF414E52505A1A
GO
Isoform 3 (identifier: Q8N309-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-185: Missing.
     221-221: W → WGRVRLGLGDAVLTAAACVFLLFSELRSICFLVCGSRLLAPCSPGFLTPRRSCSPSR

Note: No experimental confirmation available.
Show »
Length:527
Mass (Da):57,993
Checksum:i934B5413B6FC2051
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti256 – 2561Q → K.1 Publication
Corresponds to variant rs11060094 [ dbSNP | Ensembl ].
VAR_037338
Isoform 3 (identifier: Q8N309-3)
Natural varianti61 – 611L → P.
Corresponds to variant rs10847725 [ dbSNP | Ensembl ].

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 185185Missing in isoform 2 and isoform 3. 2 PublicationsVSP_029636Add
BLAST
Alternative sequencei221 – 2211W → WGRVRLGLGDAVLTAAACVF LLFSELRSICFLVCGSRLLA PCSPGFLTPRRSCSPSR in isoform 3. 1 PublicationVSP_029637

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK124107 mRNA. Translation: BAC85772.1.
AC048338 Genomic DNA. No translation available.
BC029245 mRNA. Translation: AAH29245.1.
CCDSiCCDS45001.1. [Q8N309-1]
RefSeqiNP_001091989.1. NM_001098519.1. [Q8N309-1]
NP_689972.3. NM_152759.4. [Q8N309-2]
UniGeneiHs.374856.

Genome annotation databases

EnsembliENST00000339777; ENSP00000344233; ENSG00000158113. [Q8N309-1]
GeneIDi254050.
KEGGihsa:254050.
UCSCiuc009zxm.4. human. [Q8N309-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK124107 mRNA. Translation: BAC85772.1.
AC048338 Genomic DNA. No translation available.
BC029245 mRNA. Translation: AAH29245.1.
CCDSiCCDS45001.1. [Q8N309-1]
RefSeqiNP_001091989.1. NM_001098519.1. [Q8N309-1]
NP_689972.3. NM_152759.4. [Q8N309-2]
UniGeneiHs.374856.

3D structure databases

ProteinModelPortaliQ8N309.
SMRiQ8N309. Positions 81-300.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000344233.

PTM databases

iPTMnetiQ8N309.
PhosphoSiteiQ8N309.

Polymorphism and mutation databases

BioMutaiLRRC43.
DMDMi162416235.

Proteomic databases

PaxDbiQ8N309.
PeptideAtlasiQ8N309.
PRIDEiQ8N309.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339777; ENSP00000344233; ENSG00000158113. [Q8N309-1]
GeneIDi254050.
KEGGihsa:254050.
UCSCiuc009zxm.4. human. [Q8N309-1]

Organism-specific databases

CTDi254050.
GeneCardsiLRRC43.
HGNCiHGNC:28562. LRRC43.
HPAiHPA047606.
neXtProtiNX_Q8N309.
PharmGKBiPA142671531.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00390000008994.
HOGENOMiHOG000113371.
HOVERGENiHBG108098.
InParanoidiQ8N309.
OMAiFITYNYY.
OrthoDBiEOG77M8P8.
PhylomeDBiQ8N309.
TreeFamiTF330806.

Miscellaneous databases

GenomeRNAii254050.
PROiQ8N309.

Gene expression databases

BgeeiQ8N309.
CleanExiHS_LRRC43.
ExpressionAtlasiQ8N309. baseline and differential.
GenevisibleiQ8N309. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
PfamiPF13855. LRR_8. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 5 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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] (ISOFORM 3), VARIANT LYS-256.
    Tissue: Testis.
  2. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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 2).
    Tissue: Brain.

Entry informationi

Entry nameiLRC43_HUMAN
AccessioniPrimary (citable) accession number: Q8N309
Secondary accession number(s): Q6ZVT9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: December 4, 2007
Last modified: July 6, 2016
This is version 106 of the entry and version 2 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 12
    Human chromosome 12: 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. 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.