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Protein

Leucine-rich repeat-containing protein 23

Gene

LRRC23

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 23
Alternative name(s):
Leucine-rich protein B7
Gene namesi
Name:LRRC23
Synonyms:LRPB7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:19138. LRRC23.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485529.

Polymorphism and mutation databases

BioMutaiLRRC23.
DMDMi119371993.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 343343Leucine-rich repeat-containing protein 23PRO_0000264236Add
BLAST

Proteomic databases

EPDiQ53EV4.
PaxDbiQ53EV4.
PRIDEiQ53EV4.

PTM databases

iPTMnetiQ53EV4.

Expressioni

Gene expression databases

BgeeiQ53EV4.
CleanExiHS_LRRC23.
ExpressionAtlasiQ53EV4. baseline and differential.
GenevisibleiQ53EV4. HS.

Organism-specific databases

HPAiHPA037766.
HPA057533.

Interactioni

Protein-protein interaction databases

BioGridi115527. 1 interaction.
STRINGi9606.ENSP00000007969.

Structurei

3D structure databases

ProteinModelPortaliQ53EV4.
SMRiQ53EV4. Positions 72-320.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati92 – 11322LRR 1Add
BLAST
Repeati114 – 13421LRR 2Add
BLAST
Repeati135 – 15521LRR 3Add
BLAST
Repeati156 – 17722LRR 4Add
BLAST
Repeati180 – 20021LRR 5Add
BLAST
Repeati201 – 22222LRR 6Add
BLAST
Repeati223 – 24422LRR 7Add
BLAST
Repeati246 – 26722LRR 8Add
BLAST
Domaini280 – 31839LRRCTAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili307 – 32923Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 8 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129809.
HOGENOMiHOG000006511.
HOVERGENiHBG052867.
InParanoidiQ53EV4.
OMAiSENHISD.
PhylomeDBiQ53EV4.
TreeFamiTF329158.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
PfamiPF13516. LRR_6. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 7 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q53EV4-1) [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
MSDEDDLEDS EPDQDDSEKE EDEKETEEGE DYRKEGEEFP EEWLPTPLTE
60 70 80 90 100
DMMKEGLSLL CKTGNGLAHA YVKLEVKERD LTDIYLLRSY IHLRYVDISE
110 120 130 140 150
NHLTDLSPLN YLTHLLWLKA DGNRLRSAQM NELPYLQIAS FAYNQITDTE
160 170 180 190 200
GISHPRLETL NLKGNSIHMV TGLDPEKLIS LHTVELRGNQ LESTLGINLP
210 220 230 240 250
KLKNLYLAQN MLKKVEGLED LSNLTTLHLR DNQIDTLSGF SREMKSLQYL
260 270 280 290 300
NLRGNMVANL GELAKLRDLP KLRALVLLDN PCTDETSYRQ EALVQMPYLE
310 320 330 340
RLDKEFYEEE ERAEADVIRQ RLKEEKEQEP EPQRDLEPEQ SLI
Length:343
Mass (Da):39,761
Last modified:December 12, 2006 - v2
Checksum:i27FF858EC42AFE21
GO
Isoform 2 (identifier: Q53EV4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     254-343: GNMVANLGEL...RDLEPEQSLI → RSKTLAFRPD...WAVWGAEWGA

Show »
Length:312
Mass (Da):36,081
Checksum:i7642881FAD2C4F41
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti153 – 1531S → P in BAD97255 (Ref. 3) Curated
Isoform 2 (identifier: Q53EV4-2)
Sequence conflicti276 – 2761E → G in AAC51638 (PubMed:9074930).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651N → H.
Corresponds to variant rs2071072 [ dbSNP | Ensembl ].
VAR_051106
Natural varianti124 – 1241R → L.1 Publication
Corresponds to variant rs2071073 [ dbSNP | Ensembl ].
VAR_051107
Natural varianti317 – 3171V → E.
Corresponds to variant rs1057077 [ dbSNP | Ensembl ].
VAR_051108

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei254 – 34390GNMVA…EQSLI → RSKTLAFRPDQTPRGSHHMY DREQRMPVFAPKLEIHHNLR PRICSVPVLWAVWGAEWGA in isoform 2. 1 PublicationVSP_021889Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U47924 Genomic DNA. Translation: AAB51319.1.
U72508 mRNA. Translation: AAC51638.1.
AK223535 mRNA. Translation: BAD97255.1.
AK292291 mRNA. Translation: BAF84980.1.
CH471116 Genomic DNA. Translation: EAW88716.1.
CH471116 Genomic DNA. Translation: EAW88714.1.
CH471116 Genomic DNA. Translation: EAW88715.1.
BC029858 mRNA. Translation: AAH29858.1.
CCDSiCCDS8568.1. [Q53EV4-2]
CCDS8569.1. [Q53EV4-1]
RefSeqiNP_001128689.1. NM_001135217.1. [Q53EV4-1]
NP_008923.1. NM_006992.3. [Q53EV4-2]
NP_964013.1. NM_201650.2. [Q53EV4-1]
UniGeneiHs.155586.
Hs.661103.

Genome annotation databases

EnsembliENST00000007969; ENSP00000007969; ENSG00000010626. [Q53EV4-1]
ENST00000323702; ENSP00000317464; ENSG00000010626. [Q53EV4-2]
ENST00000443597; ENSP00000390932; ENSG00000010626. [Q53EV4-1]
GeneIDi10233.
KEGGihsa:10233.
UCSCiuc001qrp.4. human. [Q53EV4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U47924 Genomic DNA. Translation: AAB51319.1.
U72508 mRNA. Translation: AAC51638.1.
AK223535 mRNA. Translation: BAD97255.1.
AK292291 mRNA. Translation: BAF84980.1.
CH471116 Genomic DNA. Translation: EAW88716.1.
CH471116 Genomic DNA. Translation: EAW88714.1.
CH471116 Genomic DNA. Translation: EAW88715.1.
BC029858 mRNA. Translation: AAH29858.1.
CCDSiCCDS8568.1. [Q53EV4-2]
CCDS8569.1. [Q53EV4-1]
RefSeqiNP_001128689.1. NM_001135217.1. [Q53EV4-1]
NP_008923.1. NM_006992.3. [Q53EV4-2]
NP_964013.1. NM_201650.2. [Q53EV4-1]
UniGeneiHs.155586.
Hs.661103.

3D structure databases

ProteinModelPortaliQ53EV4.
SMRiQ53EV4. Positions 72-320.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115527. 1 interaction.
STRINGi9606.ENSP00000007969.

PTM databases

iPTMnetiQ53EV4.

Polymorphism and mutation databases

BioMutaiLRRC23.
DMDMi119371993.

Proteomic databases

EPDiQ53EV4.
PaxDbiQ53EV4.
PRIDEiQ53EV4.

Protocols and materials databases

DNASUi10233.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000007969; ENSP00000007969; ENSG00000010626. [Q53EV4-1]
ENST00000323702; ENSP00000317464; ENSG00000010626. [Q53EV4-2]
ENST00000443597; ENSP00000390932; ENSG00000010626. [Q53EV4-1]
GeneIDi10233.
KEGGihsa:10233.
UCSCiuc001qrp.4. human. [Q53EV4-1]

Organism-specific databases

CTDi10233.
GeneCardsiLRRC23.
HGNCiHGNC:19138. LRRC23.
HPAiHPA037766.
HPA057533.
neXtProtiNX_Q53EV4.
PharmGKBiPA143485529.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129809.
HOGENOMiHOG000006511.
HOVERGENiHBG052867.
InParanoidiQ53EV4.
OMAiSENHISD.
PhylomeDBiQ53EV4.
TreeFamiTF329158.

Miscellaneous databases

ChiTaRSiLRRC23. human.
GeneWikiiLRRC23.
GenomeRNAii10233.
PROiQ53EV4.

Gene expression databases

BgeeiQ53EV4.
CleanExiHS_LRRC23.
ExpressionAtlasiQ53EV4. baseline and differential.
GenevisibleiQ53EV4. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
PfamiPF13516. LRR_6. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 7 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination."
    Ansari-Lari M.A., Shen Y., Muzny D.M., Lee W., Gibbs R.A.
    Genome Res. 7:268-280(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2).
  2. "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 1).
    Tissue: Testis.
  3. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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), VARIANT LEU-124.
    Tissue: Brain.

Entry informationi

Entry nameiLRC23_HUMAN
AccessioniPrimary (citable) accession number: Q53EV4
Secondary accession number(s): A8K8C6
, D3DUT1, Q8N6K6, Q92977, Q99620
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: December 12, 2006
Last modified: June 8, 2016
This is version 93 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.