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Protein

Leucine-rich repeat and IQ domain-containing protein 3

Gene

LRRIQ3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

HGNCiHGNC:28318. LRRIQ3.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162394627.

Polymorphism and mutation databases

BioMutaiLRRIQ3.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 624624Leucine-rich repeat and IQ domain-containing protein 3PRO_0000311194Add
BLAST

Proteomic databases

PaxDbiA6PVS8.
PRIDEiA6PVS8.

PTM databases

PhosphoSiteiA6PVS8.

Expressioni

Gene expression databases

BgeeiA6PVS8.
CleanExiHS_LRRIQ3.
ExpressionAtlasiA6PVS8. baseline and differential.
GenevisibleiA6PVS8. HS.

Organism-specific databases

HPAiHPA030798.
HPA030799.
HPA030801.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK2O436393EBI-10184751,EBI-713635

Protein-protein interaction databases

BioGridi126047. 4 interactions.
IntActiA6PVS8. 1 interaction.
STRINGi9606.ENSP00000346414.

Structurei

3D structure databases

ProteinModelPortaliA6PVS8.
SMRiA6PVS8. Positions 48-135.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati51 – 7222LRR 1Add
BLAST
Repeati73 – 9422LRR 2Add
BLAST
Repeati98 – 11922LRR 3Add
BLAST
Domaini132 – 17948LRRCTAdd
BLAST
Domaini215 – 24430IQPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili553 – 61462Sequence analysisAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00390000004404.
HOGENOMiHOG000113383.
HOVERGENiHBG095683.
InParanoidiA6PVS8.
OMAiKYYTEQK.
OrthoDBiEOG7DVDBZ.
PhylomeDBiA6PVS8.
TreeFamiTF329557.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR025875. Leu-rich_rpt_4.
[Graphical view]
PfamiPF12799. LRR_4. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS51450. LRR. 3 hits.
[Graphical view]

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 AAH62795.1 differs from that shown. Reason: Erroneous initiation. Curated
Isoform 2 : The sequence BAD18621.1 differs from that shown. Reason: Frameshift at position 242. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti245 – 2506QQEKII → TAGKNY in BAD18621 (PubMed:14702039).Curated
Sequence conflicti361 – 3611S → G in AAH62795 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351F → C.
Corresponds to variant rs2274904 [ dbSNP | Ensembl ].
VAR_037154
Natural varianti129 – 1291M → I.
Corresponds to variant rs17094900 [ dbSNP | Ensembl ].
VAR_037155
Natural varianti156 – 1561H → Y.
Corresponds to variant rs17591320 [ dbSNP | Ensembl ].
VAR_037156
Natural varianti255 – 2551A → T.
Corresponds to variant rs1340472 [ dbSNP | Ensembl ].
VAR_051136
Natural varianti398 – 3981I → V.
Corresponds to variant rs17094779 [ dbSNP | Ensembl ].
VAR_051137
Natural varianti434 – 4341E → K.
Corresponds to variant rs17094777 [ dbSNP | Ensembl ].
VAR_051138
Natural varianti483 – 4831L → F.
Corresponds to variant rs17094774 [ dbSNP | Ensembl ].
VAR_051139

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei192 – 1998GTTYEEEI → EKMKHSEV in isoform 3. 1 PublicationVSP_029408
Alternative sequencei200 – 624425Missing in isoform 3. 1 PublicationVSP_029409Add
BLAST
Alternative sequencei290 – 29910NIYYPVDLKN → DKKKLWVNFH in isoform 2. 1 PublicationVSP_029410
Alternative sequencei300 – 624325Missing in isoform 2. 1 PublicationVSP_029411Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131476 mRNA. Translation: BAD18621.1. Frameshift.
AL359205, AC098692 Genomic DNA. Translation: CAO03470.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131476 mRNA. Translation: BAD18621.1. Frameshift.
AL359205, AC098692 Genomic DNA. Translation: CAO03470.1.
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.

3D structure databases

ProteinModelPortaliA6PVS8.
SMRiA6PVS8. Positions 48-135.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126047. 4 interactions.
IntActiA6PVS8. 1 interaction.
STRINGi9606.ENSP00000346414.

PTM databases

PhosphoSiteiA6PVS8.

Polymorphism and mutation databases

BioMutaiLRRIQ3.

Proteomic databases

PaxDbiA6PVS8.
PRIDEiA6PVS8.

Protocols and materials databases

DNASUi127255.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi127255.
GeneCardsiLRRIQ3.
HGNCiHGNC:28318. LRRIQ3.
HPAiHPA030798.
HPA030799.
HPA030801.
neXtProtiNX_A6PVS8.
PharmGKBiPA162394627.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00390000004404.
HOGENOMiHOG000113383.
HOVERGENiHBG095683.
InParanoidiA6PVS8.
OMAiKYYTEQK.
OrthoDBiEOG7DVDBZ.
PhylomeDBiA6PVS8.
TreeFamiTF329557.

Miscellaneous databases

GenomeRNAii127255.
NextBioi82047.
PROiA6PVS8.

Gene expression databases

BgeeiA6PVS8.
CleanExiHS_LRRIQ3.
ExpressionAtlasiA6PVS8. baseline and differential.
GenevisibleiA6PVS8. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR025875. Leu-rich_rpt_4.
[Graphical view]
PfamiPF12799. LRR_4. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS51450. LRR. 3 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 2).
    Tissue: Testis.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 361-624 (ISOFORM 1).
    Tissue: Testis.

Entry informationi

Entry nameiLRIQ3_HUMAN
AccessioniPrimary (citable) accession number: A6PVS8
Secondary accession number(s): A6PVS9
, Q6P5P7, Q6ZMV4, Q8WUE0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: August 21, 2007
Last modified: May 11, 2016
This is version 75 of the entry and version 1 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 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
  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.