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Protein

Leucine-rich repeat-containing protein 27

Gene

LRRC27

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein 27
Gene namesi
Name:LRRC27
Synonyms:KIAA1674
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000148814.17.
HGNCiHGNC:29346. LRRC27.

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

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000148814.
PharmGKBiPA134904045.

Polymorphism and mutation databases

BioMutaiLRRC27.
DMDMi85701139.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000762421 – 530Leucine-rich repeat-containing protein 27Add BLAST530

Proteomic databases

PaxDbiQ9C0I9.
PeptideAtlasiQ9C0I9.
PRIDEiQ9C0I9.

PTM databases

iPTMnetiQ9C0I9.
PhosphoSitePlusiQ9C0I9.

Expressioni

Gene expression databases

BgeeiENSG00000148814.
CleanExiHS_LRRC27.
ExpressionAtlasiQ9C0I9. baseline and differential.
GenevisibleiQ9C0I9. HS.

Organism-specific databases

HPAiHPA037595.

Interactioni

Protein-protein interaction databases

BioGridi123226. 9 interactors.
IntActiQ9C0I9. 2 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ9C0I9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati46 – 67LRR 1Add BLAST22
Repeati68 – 89LRR 2Add BLAST22
Repeati92 – 113LRR 3Add BLAST22
Repeati115 – 136LRR 4Add BLAST22
Repeati138 – 159LRR 5Add BLAST22

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili327 – 385Sequence analysisAdd BLAST59

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiENOG410ISCS. Eukaryota.
ENOG4112CNT. LUCA.
GeneTreeiENSGT00390000007203.
HOVERGENiHBG056703.
InParanoidiQ9C0I9.
OMAiNALCVIP.
OrthoDBiEOG091G0BEV.
PhylomeDBiQ9C0I9.
TreeFamiTF351877.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiView protein in InterPro
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
PfamiView protein in Pfam
PF13855. LRR_8. 1 hit.
SMARTiView protein in SMART
SM00369. LRR_TYP. 3 hits.
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiView protein in PROSITE
PS51450. LRR. 4 hits.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9C0I9-1) [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
MEGSSSYEVP SVAAADLEEG AGQTRSLPAT PSKDVHKGVG GIIFSSSPIL
60 70 80 90 100
DLSESGLCRL EEVFRIPSLQ QLHLQRNALC VIPQDFFQLL PNLTWLDLRY
110 120 130 140 150
NRIKALPSGI GAHQHLKTLL LERNPIKMLP VELGSVTTLK ALNLRHCPLE
160 170 180 190 200
FPPQLVVQKG LVAIQRFLRM WAVEHSLPRN PTSQEAPPVR EMTLRDLPSP
210 220 230 240 250
GLELSGDHAS NQGAVNAQDP EGAVMKEKAS FLPPVEKPDL SELRKSADSS
260 270 280 290 300
ENWPSEEEIR RFWKLRQEIV EHVKADVLGD QLLTRELPPN LKAALNIEKE
310 320 330 340 350
LPKPRHVFRR KTASSRSILP DLLSPYQMAI RAKRLEESRA AALRELQEKQ
360 370 380 390 400
ALMEQQRREK RALQEWRERA QRMRKRKEEL SKLLPPRRSM VASKIPSATD
410 420 430 440 450
LIDNRKVPLN PPGKMKPSKE KSPQASKEMS ALQERNLEEK IKQHVLQMRE
460 470 480 490 500
QRRFHGQAPL EEMRKAAEDL EIATELQDEV LKLKLGLTLN KDRRRAALTG
510 520 530
NLSLGLPAAQ PQNTFFNTKY GESGNVRRYQ
Length:530
Mass (Da):60,089
Last modified:January 24, 2006 - v2
Checksum:i8EA76B0A0566DDAC
GO
Isoform 2 (identifier: Q9C0I9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: MEGSSSYEVP...EEVFRIPSLQ → MDINTYNN

Show »
Length:468
Mass (Da):53,768
Checksum:i5A27E117E7B2892B
GO
Isoform 3 (identifier: Q9C0I9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-383: RKTASSRSIL...RKRKEELSKL → TRVPRKQALQ...RSESSRRSRL
     384-530: Missing.

Show »
Length:383
Mass (Da):43,220
Checksum:iA787D219A5DEFE38
GO
Isoform 4 (identifier: Q9C0I9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     359-383: EKRALQEWRERAQRMRKRKEELSKL → PFLLIFPRVFQALTRSSGRFILVLL
     384-530: Missing.

Note: No experimental confirmation available.
Show »
Length:383
Mass (Da):43,071
Checksum:i1F18081B5C3394DE
GO

Sequence cautioni

Q9C0I9: The sequence BAB21765 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti221E → K in BAC04108 (PubMed:14702039).Curated1
Isoform 2 (identifier: Q9C0I9-2)
Sequence conflicti256I → V in BAC04108 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051110195R → C. Corresponds to variant dbSNP:rs2474329Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0170391 – 70MEGSS…IPSLQ → MDINTYNN in isoform 2. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_017040310 – 383RKTAS…ELSKL → TRVPRKQALQRLHERKTRIM GVVGRAPTHMGEGRQPPPGA SYPTSCHRTKWRSEQKDWKR AERRRSESSRRSRL in isoform 3. 1 PublicationAdd BLAST74
Alternative sequenceiVSP_017042359 – 383EKRAL…ELSKL → PFLLIFPRVFQALTRSSGRF ILVLL in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_017041384 – 530Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST147

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051461 mRNA. Translation: BAB21765.1. Different initiation.
AK093250 mRNA. Translation: BAC04108.1.
AK098652 mRNA. Translation: BAC05366.1.
AL590105 Genomic DNA. Translation: CAI13016.1.
AL590105 Genomic DNA. Translation: CAI13017.1.
AL590105 Genomic DNA. Translation: CAI13019.1.
CH471066 Genomic DNA. Translation: EAW49121.1.
CH471066 Genomic DNA. Translation: EAW49122.1.
CH471066 Genomic DNA. Translation: EAW49123.1.
BC050097 mRNA. Translation: AAH50097.1.
CCDSiCCDS31316.1. [Q9C0I9-1]
CCDS44495.1. [Q9C0I9-4]
CCDS44496.1. [Q9C0I9-3]
RefSeqiNP_001137229.1. NM_001143757.1. [Q9C0I9-1]
NP_001137230.1. NM_001143758.1. [Q9C0I9-4]
NP_001137231.1. NM_001143759.1. [Q9C0I9-3]
NP_085129.1. NM_030626.2. [Q9C0I9-1]
XP_006718046.1. XM_006717983.2. [Q9C0I9-1]
XP_011538510.1. XM_011540208.1. [Q9C0I9-1]
XP_016872181.1. XM_017016692.1. [Q9C0I9-3]
UniGeneiHs.119897.

Genome annotation databases

EnsembliENST00000344079; ENSP00000342641; ENSG00000148814. [Q9C0I9-3]
ENST00000368612; ENSP00000357601; ENSG00000148814. [Q9C0I9-2]
ENST00000368613; ENSP00000357602; ENSG00000148814. [Q9C0I9-1]
ENST00000368614; ENSP00000357603; ENSG00000148814. [Q9C0I9-1]
ENST00000625755; ENSP00000486582; ENSG00000148814. [Q9C0I9-4]
GeneIDi80313.
KEGGihsa:80313.
UCSCiuc001llf.3. human. [Q9C0I9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLRC27_HUMAN
AccessioniPrimary (citable) accession number: Q9C0I9
Secondary accession number(s): A6NE72
, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: January 24, 2006
Last modified: September 27, 2017
This is version 126 of the entry and version 2 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

Documents

  1. Human chromosome 10
    Human chromosome 10: 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