Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Leucine-rich repeat and IQ domain-containing protein 1

Gene

LRRIQ1

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

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat and IQ domain-containing protein 1
Gene namesi
Name:LRRIQ1
Synonyms:KIAA1801
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:25708. LRRIQ1.

Pathology & Biotechi

Organism-specific databases

DisGeNETi84125.
OpenTargetsiENSG00000133640.
PharmGKBiPA134962087.

Polymorphism and mutation databases

BioMutaiLRRIQ1.
DMDMi322510118.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003136251 – 1722Leucine-rich repeat and IQ domain-containing protein 1Add BLAST1722

Proteomic databases

MaxQBiQ96JM4.
PaxDbiQ96JM4.
PeptideAtlasiQ96JM4.
PRIDEiQ96JM4.

PTM databases

iPTMnetiQ96JM4.
PhosphoSitePlusiQ96JM4.

Expressioni

Gene expression databases

BgeeiENSG00000133640.
CleanExiHS_LRRIQ1.
ExpressionAtlasiQ96JM4. baseline and differential.

Organism-specific databases

HPAiHPA046162.
HPA060215.

Interactioni

Protein-protein interaction databases

BioGridi123899. 28 interactors.
IntActiQ96JM4. 1 interactor.
STRINGi9606.ENSP00000376910.

Structurei

3D structure databases

ProteinModelPortaliQ96JM4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini283 – 312IQ 1PROSITE-ProRule annotationAdd BLAST30
Repeati819 – 840LRR 1Add BLAST22
Repeati841 – 861LRR 2Add BLAST21
Repeati862 – 883LRR 3Add BLAST22
Repeati884 – 905LRR 4Add BLAST22
Repeati970 – 991LRR 5Add BLAST22
Repeati992 – 1013LRR 6Add BLAST22
Repeati1014 – 1035LRR 7Add BLAST22
Repeati1036 – 1057LRR 8Add BLAST22
Repeati1060 – 1081LRR 9Add BLAST22
Repeati1082 – 1103LRR 10Add BLAST22
Domaini1117 – 1157LRRCTAdd BLAST41
Domaini1335 – 1364IQ 2PROSITE-ProRule annotationAdd BLAST30
Domaini1395 – 1424IQ 3PROSITE-ProRule annotationAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi162 – 376Glu-richAdd BLAST215

Sequence similaritiesi

Contains 3 IQ domains.PROSITE-ProRule annotation
Contains 10 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00510000049718.
HOGENOMiHOG000113381.
HOVERGENiHBG095533.
InParanoidiQ96JM4.
OMAiRLAWIKS.
OrthoDBiEOG091G03JH.
PhylomeDBiQ96JM4.
TreeFamiTF333460.

Family and domain databases

Gene3Di3.80.10.10. 3 hits.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00612. IQ. 2 hits.
[Graphical view]
SMARTiSM00015. IQ. 3 hits.
SM00369. LRR_TYP. 4 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
SSF52540. SSF52540. 2 hits.
PROSITEiPS50096. IQ. 3 hits.
PS51450. LRR. 11 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96JM4-4) [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
MDDDDAKLKA EIEAELDKLS ISSLEKEDIE SDAKSETQSD DSDTDSVELP
60 70 80 90 100
ESVLHCINII KNRSKAVEEL ILQDLEDTDI LSCSYGAVSN NHMHLRTGLS
110 120 130 140 150
TEYEESSEQL IKILSEIEKE EFMRSKTDCA TPDFVPEPSP HDLPMDEHVL
160 170 180 190 200
PDDADINFGY CEVEEKCRQS FEAWQEKQKE LEDKEKQTLK AQRDREEKQF
210 220 230 240 250
QEEEEKRHCW MKQFKVEKKK LENIQKQEQD KMNDELYKEE KIWKEKFKQH
260 270 280 290 300
EEYIRNLHLQ MEEERTRFKD QQEKEKNSLL KQQNNAAVKI QAKYKAFVAY
310 320 330 340 350
QKYGPIIKEQ IESKKRKAQE WKEKEAKIRQ KEEENRKRLE EEQRIKEERK
360 370 380 390 400
KQKEEERKRR EKEYEEKKNI VKQEREQLIS KEKIILREDA SQQLIISSAL
410 420 430 440 450
KKSGYNNKHL SLEDISNDKG DIAKNLVDEN SKKQEDVLLW LVEESNMKEN
460 470 480 490 500
VDRQTILKES IQVKLKESIS SQTILADFKM EEKNENLAKK RCSEELVKQE
510 520 530 540 550
RKYENTDNKT ELGNSDLKGN LKEQFPLQEL KSDAQKEEKI MKHVINENTG
560 570 580 590 600
QKTQIILGHN QEISEVKTNE EQKIIKDNQQ KKIQKVEKEE IQEQNGLLYK
610 620 630 640 650
DKDTLVISVK QRSLSLTSEN SKDVRENVIL QEKEIYSKSK EIEENPKDNA
660 670 680 690 700
WNSGIVIFNT TDTMINIEGK RNDQDYVLGR HAPCEGLSNY NAESSMVSKE
710 720 730 740 750
VNSLKSEIRN ISEKCHENAP EPDSMTCCVS ESTLLYSIEE RRLAWIKSFK
760 770 780 790 800
PWLEIFKQNQ QKKIVRRKRP VKCPANMTPA LDKLEILRCG PWDTLQQVTT
810 820 830 840 850
VTFQDLPGCV LSTLAECTNL QFLSLRRCGL TSLHSLSNCK KLKYIDAQEN
860 870 880 890 900
HIEAIECENL ENLCVVLLNK NQLTSLHGLD GCTNIQCLEL SYNKITRIGY
910 920 930 940 950
SFFLEEKLVD NAGFCHHLGT STSYLSLAQV WIPTGLCWSW IPITSLTKNS
960 970 980 990 1000
DCNFLISHLY WNCGLESLKN LQQLILDHNQ LINTKGLCDT PTIVYLDCSH
1010 1020 1030 1040 1050
NHLTDVEGVE NCGLLQILKL QGNYLSELPS LENLVLLREL HLDDNSISTV
1060 1070 1080 1090 1100
EAFSSYWLPL LQNITISQNS LTKIVPLFHF VSLEKLDVSH NCLSDLKSAI
1110 1120 1130 1140 1150
KWFDACYSLH ELSLTGNPLL QETNWRDSLL KVLPALRILN GNILNSNSES
1160 1170 1180 1190 1200
RTEEHNQLGS AGFLALCQSQ IREFNLLIEN YITGKGDVFT LDTAENLCHY
1210 1220 1230 1240 1250
FKKLMILSTE YRHAHERGDV TITKKDESEA QKNHLAPTNS DSTLQNGVFY
1260 1270 1280 1290 1300
SCAREGEPDS PDIPEKWMDS VSSHSPLSKS ATCENMEGRH QEILVCQKRE
1310 1320 1330 1340 1350
DSKASSIPTI RIPFKEVVMT NSLLRNHQNI EPSEKIMAAV VIQSYWRGYL
1360 1370 1380 1390 1400
MRRQTHFSTR LHTAATEGLP NSSIKNQTIL KKGKRENIVN IRKQREKAAI
1410 1420 1430 1440 1450
LIQAVWKGFI LRKKLTTALE AIKNEESDEE YREIDLEDFI FDEAALEEEW
1460 1470 1480 1490 1500
LALDSTRFPS QTLLLSNQLH WPKIPGNLKW DDTSFNLPSN PAQAWLCNDK
1510 1520 1530 1540 1550
ENLSSSEHTQ FNSRSENKTS SWTPESKTSR KSLLKSEKEK KISEEWGFKD
1560 1570 1580 1590 1600
ISTAQQMLKR AQKMKSKKLK KKIDSTVRLA LFKNNENKVS LPKSPKMVQP
1610 1620 1630 1640 1650
RRDGYFEGIE EDPIHKDTTA NEKLERNREY TYQWLHTQVG VHETTSSRNM
1660 1670 1680 1690 1700
KCNHFLPELD PDVLNGGRVQ LVARLVSRED TDLDLFSMTN GSALSVNREK
1710 1720
KNQAHRHSAG SSSKLWFPSK LI
Note: No experimental confirmation available. Gene prediction based on EST data.
Length:1,722
Mass (Da):199,300
Last modified:February 8, 2011 - v3
Checksum:i5FFE2E824F6F7B1D
GO
Isoform 2 (identifier: Q96JM4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     227-251: Missing.

Note: No experimental confirmation available.
Show »
Length:1,697
Mass (Da):196,037
Checksum:i1281FBA2C67CFF0F
GO

Sequence cautioni

The sequence AAH93088 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAB47430 differs from that shown. Probable cloning artifact.Curated
The sequence BAB47430 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03767229I → N.1 PublicationCorresponds to variant rs7312075dbSNPEnsembl.1
Natural variantiVAR_03767383C → Y.1 PublicationCorresponds to variant rs3765044dbSNPEnsembl.1
Natural variantiVAR_037674912A → T.1 PublicationCorresponds to variant rs17012533dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030065227 – 251Missing in isoform 2. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC025418 Genomic DNA. No translation available.
AC079631 Genomic DNA. No translation available.
AC133794 Genomic DNA. No translation available.
AK022365 mRNA. Translation: BAB14022.1.
BC093088 mRNA. Translation: AAH93088.1. Sequence problems.
AB058704 mRNA. Translation: BAB47430.1. Sequence problems.
CCDSiCCDS41816.1. [Q96JM4-4]
RefSeqiNP_001073379.1. NM_001079910.1. [Q96JM4-4]
XP_016875508.1. XM_017020019.1. [Q96JM4-4]
UniGeneiHs.402200.

Genome annotation databases

EnsembliENST00000393217; ENSP00000376910; ENSG00000133640. [Q96JM4-4]
GeneIDi84125.
KEGGihsa:84125.
UCSCiuc001tac.4. human. [Q96JM4-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC025418 Genomic DNA. No translation available.
AC079631 Genomic DNA. No translation available.
AC133794 Genomic DNA. No translation available.
AK022365 mRNA. Translation: BAB14022.1.
BC093088 mRNA. Translation: AAH93088.1. Sequence problems.
AB058704 mRNA. Translation: BAB47430.1. Sequence problems.
CCDSiCCDS41816.1. [Q96JM4-4]
RefSeqiNP_001073379.1. NM_001079910.1. [Q96JM4-4]
XP_016875508.1. XM_017020019.1. [Q96JM4-4]
UniGeneiHs.402200.

3D structure databases

ProteinModelPortaliQ96JM4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123899. 28 interactors.
IntActiQ96JM4. 1 interactor.
STRINGi9606.ENSP00000376910.

PTM databases

iPTMnetiQ96JM4.
PhosphoSitePlusiQ96JM4.

Polymorphism and mutation databases

BioMutaiLRRIQ1.
DMDMi322510118.

Proteomic databases

MaxQBiQ96JM4.
PaxDbiQ96JM4.
PeptideAtlasiQ96JM4.
PRIDEiQ96JM4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393217; ENSP00000376910; ENSG00000133640. [Q96JM4-4]
GeneIDi84125.
KEGGihsa:84125.
UCSCiuc001tac.4. human. [Q96JM4-4]

Organism-specific databases

CTDi84125.
DisGeNETi84125.
GeneCardsiLRRIQ1.
H-InvDBHIX0010860.
HGNCiHGNC:25708. LRRIQ1.
HPAiHPA046162.
HPA060215.
neXtProtiNX_Q96JM4.
OpenTargetsiENSG00000133640.
PharmGKBiPA134962087.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00510000049718.
HOGENOMiHOG000113381.
HOVERGENiHBG095533.
InParanoidiQ96JM4.
OMAiRLAWIKS.
OrthoDBiEOG091G03JH.
PhylomeDBiQ96JM4.
TreeFamiTF333460.

Miscellaneous databases

ChiTaRSiLRRIQ1. human.
GenomeRNAii84125.
PROiQ96JM4.

Gene expression databases

BgeeiENSG00000133640.
CleanExiHS_LRRIQ1.
ExpressionAtlasiQ96JM4. baseline and differential.

Family and domain databases

Gene3Di3.80.10.10. 3 hits.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00612. IQ. 2 hits.
[Graphical view]
SMARTiSM00015. IQ. 3 hits.
SM00369. LRR_TYP. 4 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
SSF52540. SSF52540. 2 hits.
PROSITEiPS50096. IQ. 3 hits.
PS51450. LRR. 11 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLRIQ1_HUMAN
AccessioniPrimary (citable) accession number: Q96JM4
Secondary accession number(s): Q567P4, Q9BS17, Q9HA36
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: February 8, 2011
Last modified: November 2, 2016
This is version 100 of the entry and version 3 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.