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Protein

Leucine-rich repeat and IQ domain-containing protein 3

Gene

LRRIQ3

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

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat and IQ domain-containing protein 3
Alternative name(s):
Leucine-rich repeat-containing protein 44
Gene namesi
Name:LRRIQ3
Synonyms:LRRC44
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162620.15
HGNCiHGNC:28318 LRRIQ3
neXtProtiNX_A6PVS8

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000162620
PharmGKBiPA162394627

Polymorphism and mutation databases

BioMutaiLRRIQ3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003111941 – 624Leucine-rich repeat and IQ domain-containing protein 3Add BLAST624

Proteomic databases

PaxDbiA6PVS8
PRIDEiA6PVS8

PTM databases

iPTMnetiA6PVS8
PhosphoSitePlusiA6PVS8

Expressioni

Gene expression databases

BgeeiENSG00000162620
CleanExiHS_LRRIQ3
ExpressionAtlasiA6PVS8 baseline and differential
GenevisibleiA6PVS8 HS

Organism-specific databases

HPAiHPA030799

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK2O436396EBI-10184751,EBI-713635

Protein-protein interaction databases

BioGridi126047, 4 interactors
IntActiA6PVS8, 1 interactor
STRINGi9606.ENSP00000346414

Structurei

3D structure databases

ProteinModelPortaliA6PVS8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati51 – 72LRR 1Add BLAST22
Repeati73 – 94LRR 2Add BLAST22
Repeati98 – 119LRR 3Add BLAST22
Domaini132 – 179LRRCTAdd BLAST48
Domaini215 – 244IQPROSITE-ProRule annotationAdd BLAST30

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili553 – 614Sequence analysisAdd BLAST62

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0531 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00390000004404
HOGENOMiHOG000113383
HOVERGENiHBG095683
InParanoidiA6PVS8
OMAiDIDKYYT
OrthoDBiEOG091G0NNP
PhylomeDBiA6PVS8
TreeFamiTF329557

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR000048 IQ_motif_EF-hand-BS
IPR001611 Leu-rich_rpt
IPR025875 Leu-rich_rpt_4
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF12799 LRR_4, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 1 hit
PS51450 LRR, 3 hits

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: A6PVS8-1) [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
MFHGTVTEEL TSHEEWSHYN ENIREGQKDF VFVKFNGLHL KSMENLQSCI
60 70 80 90 100
SLRVCIFSNN FITDIHPLQS CIKLIKLDLH GNQIKSLPNT KFWNGLKNLK
110 120 130 140 150
LLYLHDNGFA KLKNICVLSA CPTLIALTMF DCPVSLKKGY RHVLVNSIWP
160 170 180 190 200
LKALDHHVIS DEEIIQNWHL PERFKACNHR LFFNFCPALR KGTTYEEEIN
210 220 230 240 250
NIKHITSKIN AILAHNSPVL IVQRWIRGFL VRKNLSPVFF HKKKQQEKII
260 270 280 290 300
RGYEAKWIYI TKGYEDKLLK DLFFKPETNI KGKLAYWKHN IYYPVDLKNS
310 320 330 340 350
SEHRKHVSSI LCELKPKDLG MKSKTSRHLI QKGQESEDEI VDEKLDTSFR
360 370 380 390 400
ISVFKLPIYT SGSLKNNAVL REKKQHFFPA YPQPIYTTHP KPIIKKDIRL
410 420 430 440 450
ERSMKEFFAP QRAGMKLRTF SDIDKYYTEQ KKQEYHKEKV RVVAMAQVAR
460 470 480 490 500
ERVRVAVNEH LNQKKYATQK LIEENKETIQ NSLRQVWQNR FNYLEKARER
510 520 530 540 550
KALFLKEKSQ KASERLLVQN LNNERTLLTR GLLKIDRLEK NEAVLKEKSL
560 570 580 590 600
IVKQKLKAEK YRKNLLKEMK KVRSQEIYKR HCEEKFVMDM IAFEKACERL
610 620
QDAKTKVAIV KTNLDFKVPN GLIK
Length:624
Mass (Da):73,675
Last modified:August 21, 2007 - v1
Checksum:i0FEE3367EB3FB37F
GO
Isoform 2 (identifier: A6PVS8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     290-299: NIYYPVDLKN → DKKKLWVNFH
     300-624: Missing.

Show »
Length:299
Mass (Da):35,251
Checksum:i6182C3303BE9AEAD
GO
Isoform 3 (identifier: A6PVS8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     192-199: GTTYEEEI → EKMKHSEV
     200-624: Missing.

Note: No experimental confirmation available.
Show »
Length:199
Mass (Da):23,227
Checksum:iCFB635165DECD1DA
GO

Sequence cautioni

The sequence AAH62795 differs from that shown. Reason: Erroneous initiation.Curated
Isoform 2 : The sequence BAD18621 differs from that shown. Reason: Frameshift at position 242.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti245 – 250QQEKII → TAGKNY in BAD18621 (PubMed:14702039).Curated6
Sequence conflicti361S → G in AAH62795 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03715435F → C. Corresponds to variant dbSNP:rs2274904Ensembl.1
Natural variantiVAR_037155129M → I. Corresponds to variant dbSNP:rs17094900Ensembl.1
Natural variantiVAR_037156156H → Y. Corresponds to variant dbSNP:rs17591320Ensembl.1
Natural variantiVAR_051136255A → T. Corresponds to variant dbSNP:rs1340472Ensembl.1
Natural variantiVAR_051137398I → V. Corresponds to variant dbSNP:rs17094779Ensembl.1
Natural variantiVAR_051138434E → K. Corresponds to variant dbSNP:rs17094777Ensembl.1
Natural variantiVAR_051139483L → F. Corresponds to variant dbSNP:rs17094774Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029408192 – 199GTTYEEEI → EKMKHSEV in isoform 3. 1 Publication8
Alternative sequenceiVSP_029409200 – 624Missing in isoform 3. 1 PublicationAdd BLAST425
Alternative sequenceiVSP_029410290 – 299NIYYPVDLKN → DKKKLWVNFH in isoform 2. 1 Publication10
Alternative sequenceiVSP_029411300 – 624Missing in isoform 2. 1 PublicationAdd BLAST325

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131476 mRNA Translation: BAD18621.1 Frameshift.
AC098692 Genomic DNA No translation available.
AL359205 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06419.1
CH471059 Genomic DNA Translation: EAX06423.1
BC020778 mRNA Translation: AAH20778.1
BC062795 mRNA Translation: AAH62795.1 Different initiation.
CCDSiCCDS41350.1 [A6PVS8-1]
RefSeqiNP_001099129.1, NM_001105659.1 [A6PVS8-1]
UniGeneiHs.644625

Genome annotation databases

EnsembliENST00000354431; ENSP00000346414; ENSG00000162620 [A6PVS8-1]
ENST00000370911; ENSP00000359948; ENSG00000162620 [A6PVS8-3]
ENST00000395089; ENSP00000378524; ENSG00000162620 [A6PVS8-1]
ENST00000415760; ENSP00000415319; ENSG00000162620 [A6PVS8-2]
GeneIDi127255
KEGGihsa:127255
UCSCiuc001dfy.5 human [A6PVS8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLRIQ3_HUMAN
AccessioniPrimary (citable) accession number: A6PVS8
Secondary accession number(s): A6PVS9
, Q6P5P7, Q6ZMV4, Q8WUE0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: August 21, 2007
Last modified: May 23, 2018
This is version 89 of the entry and version 1 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 1
    Human chromosome 1: 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

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