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

Mucolipin-3

Gene

Mcoln3

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

  • auditory receptor cell differentiation Source: MGI
  • ion transport Source: UniProtKB-KW
  • locomotory behavior Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

ReactomeiR-MMU-3295583. TRP channels.

Protein family/group databases

TCDBi1.A.5.3.2. the polycystin cation channel (pcc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Mucolipin-3
Gene namesi
Name:Mcoln3
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 3

Organism-specific databases

MGIiMGI:1890500. Mcoln3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei63 – 8321HelicalSequence analysisAdd
BLAST
Transmembranei284 – 30421HelicalSequence analysisAdd
BLAST
Transmembranei337 – 35721HelicalSequence analysisAdd
BLAST
Transmembranei375 – 39521HelicalSequence analysisAdd
BLAST
Transmembranei415 – 43521HelicalSequence analysisAdd
BLAST
Transmembranei481 – 50121HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • cytoplasm Source: MGI
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in Mcoln3 are the cause of the varitin-waddler (Va) phenotype. Classical Va mice exhibit early-onset hearing loss, vestibular defects, pigmentation abnormalities and perinatal lethality. The phenotype varitin-waddler Jackcon (Va-J), which arose in a cross segregating for Va, is similar but less severe.

Keywords - Diseasei

Disease mutation

Chemistry

GuidetoPHARMACOLOGYi503.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 553553Mucolipin-3PRO_0000215368Add
BLAST

Proteomic databases

PaxDbiQ8R4F0.
PRIDEiQ8R4F0.

PTM databases

iPTMnetiQ8R4F0.
PhosphoSiteiQ8R4F0.

Expressioni

Tissue specificityi

Expressed in the cochlea; particularly in the inner and outer hair cells.1 Publication

Gene expression databases

BgeeiQ8R4F0.
CleanExiMM_MCOLN3.
ExpressionAtlasiQ8R4F0. baseline and differential.
GenevisibleiQ8R4F0. MM.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000038801.

Structurei

3D structure databases

ProteinModelPortaliQ8R4F0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3733. Eukaryota.
ENOG410Z1HH. LUCA.
GeneTreeiENSGT00390000017126.
HOGENOMiHOG000232158.
HOVERGENiHBG052430.
InParanoidiQ8R4F0.
KOiK04994.
OMAiETECFFV.
OrthoDBiEOG7V1FQ9.
PhylomeDBiQ8R4F0.
TreeFamiTF317783.

Family and domain databases

InterProiIPR013122. PKD1_2_channel.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8R4F0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MANPEVLVSS CRARQDESPC TFHPSSSPSE QLLLEDQMRR KLKFFFMNPC
60 70 80 90 100
EKFWARGRKP WKLAIQILKI AMVTIQLVLF GLSNQMVVAF KEENTIAFKH
110 120 130 140 150
LFLKGYMDRM DDTYAVYTQS EVYDQIIFAV TQYLQLQNIS VGNHAYENKG
160 170 180 190 200
TKQSAMAICQ HFYRQGTICP GNDTFDIDPE VETECFLVEP DEASHLGTPG
210 220 230 240 250
ENKLNLSLDF HRLLTVELQF KLKAINLQTV RHQELPDCYD FTLTITFDNK
260 270 280 290 300
AHSGRIKISL DNDISIKECK DWHVSGSIQK NTHYMMIFDA FVILTCLASL
310 320 330 340 350
VLCARSVIRG LQLQQEFVNF FLLHYKKEVS ASDQMEFING WYIMIIISDI
360 370 380 390 400
LTIVGSVLKM EIQAKSLTSY DVCSILLGTS TMLVWLGVIR YLGFFAKYNL
410 420 430 440 450
LILTLQAALP NVMRFCCCAA MIYLGYCFCG WIVLGPYHEK FRSLNRVSEC
460 470 480 490 500
LFSLINGDDM FSTFAKMQQK SYLVWLFSRV YLYSFISLFI YMILSLFIAL
510 520 530 540 550
ITDTYETIKH YQQDGFPETE LRKFIAECKD LPNSGKYRLE DDPPGSLLCC

CKK
Length:553
Mass (Da):63,748
Last modified:June 1, 2002 - v1
Checksum:i8E257B05D96DF536
GO

Sequence cautioni

The sequence BAC27146.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAC28123.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAC28916.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti193 – 1931A → D in BAC27146 (PubMed:16141072).Curated
Sequence conflicti467 – 4671M → K in BAC27146 (PubMed:16141072).Curated
Sequence conflicti543 – 5431P → A in BAC28916 (PubMed:16141072).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti362 – 3621I → T in Va-J. 1 Publication
Natural varianti419 – 4191A → P in Va and Va-J. 1 Publication

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY083531 mRNA. Translation: AAM08924.1.
AF475086 mRNA. Translation: AAL84623.1.
AK030819 mRNA. Translation: BAC27146.1. Different initiation.
AK033008 mRNA. Translation: BAC28123.1. Different initiation.
AK035029 mRNA. Translation: BAC28916.1. Different initiation.
CCDSiCCDS17900.1.
RefSeqiNP_598921.1. NM_134160.1.
XP_006501144.1. XM_006501081.2.
XP_006501145.1. XM_006501082.2.
XP_006501146.1. XM_006501083.2.
XP_006501147.1. XM_006501084.2.
UniGeneiMm.114683.

Genome annotation databases

EnsembliENSMUST00000039450; ENSMUSP00000038801; ENSMUSG00000036853.
GeneIDi171166.
KEGGimmu:171166.
UCSCiuc008rqx.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY083531 mRNA. Translation: AAM08924.1.
AF475086 mRNA. Translation: AAL84623.1.
AK030819 mRNA. Translation: BAC27146.1. Different initiation.
AK033008 mRNA. Translation: BAC28123.1. Different initiation.
AK035029 mRNA. Translation: BAC28916.1. Different initiation.
CCDSiCCDS17900.1.
RefSeqiNP_598921.1. NM_134160.1.
XP_006501144.1. XM_006501081.2.
XP_006501145.1. XM_006501082.2.
XP_006501146.1. XM_006501083.2.
XP_006501147.1. XM_006501084.2.
UniGeneiMm.114683.

3D structure databases

ProteinModelPortaliQ8R4F0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000038801.

Chemistry

GuidetoPHARMACOLOGYi503.

Protein family/group databases

TCDBi1.A.5.3.2. the polycystin cation channel (pcc) family.

PTM databases

iPTMnetiQ8R4F0.
PhosphoSiteiQ8R4F0.

Proteomic databases

PaxDbiQ8R4F0.
PRIDEiQ8R4F0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000039450; ENSMUSP00000038801; ENSMUSG00000036853.
GeneIDi171166.
KEGGimmu:171166.
UCSCiuc008rqx.1. mouse.

Organism-specific databases

CTDi55283.
MGIiMGI:1890500. Mcoln3.

Phylogenomic databases

eggNOGiKOG3733. Eukaryota.
ENOG410Z1HH. LUCA.
GeneTreeiENSGT00390000017126.
HOGENOMiHOG000232158.
HOVERGENiHBG052430.
InParanoidiQ8R4F0.
KOiK04994.
OMAiETECFFV.
OrthoDBiEOG7V1FQ9.
PhylomeDBiQ8R4F0.
TreeFamiTF317783.

Enzyme and pathway databases

ReactomeiR-MMU-3295583. TRP channels.

Miscellaneous databases

NextBioi370562.
PROiQ8R4F0.
SOURCEiSearch...

Gene expression databases

BgeeiQ8R4F0.
CleanExiMM_MCOLN3.
ExpressionAtlasiQ8R4F0. baseline and differential.
GenevisibleiQ8R4F0. MM.

Family and domain databases

InterProiIPR013122. PKD1_2_channel.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice."
    Di Palma F., Belyantseva I.A., Kim H.J., Vogt T.F., Kachar B., Noben-Trauth K.
    Proc. Natl. Acad. Sci. U.S.A. 99:14994-14999(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS THR-362 AND PRO-419.
    Strain: C57BL/6J.
  2. "Cloning of the mouse Mcoln3 gene."
    Falardeau J.L., Kennedy J.C., Acierno J.S. Jr., Slaugenhaupt S.A.
    Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Strain: C57BL/6J.
  3. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: C57BL/6J.
    Tissue: Embryo, Mesonephros and Thymus.

Entry informationi

Entry nameiMCLN3_MOUSE
AccessioniPrimary (citable) accession number: Q8R4F0
Secondary accession number(s): Q8BS73, Q8BSG1, Q8CDB2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: June 1, 2002
Last modified: January 20, 2016
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.