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Protein

Mucolipin-3

Gene

MCOLN3

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

Functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

ReactomeiREACT_169333. TRP channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Mucolipin-3
Gene namesi
Name:MCOLN3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:13358. 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
Transmembranei480 – 50021HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134947324.

Polymorphism and mutation databases

BioMutaiMCOLN3.
DMDMi50401084.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 553553Mucolipin-3PRO_0000215367Add
BLAST

Proteomic databases

PaxDbiQ8TDD5.
PRIDEiQ8TDD5.

PTM databases

PhosphoSiteiQ8TDD5.

Expressioni

Gene expression databases

BgeeiQ8TDD5.
CleanExiHS_MCOLN3.
ExpressionAtlasiQ8TDD5. baseline and differential.
GenevisibleiQ8TDD5. HS.

Organism-specific databases

HPAiHPA018106.
HPA062137.

Interactioni

Protein-protein interaction databases

BioGridi120571. 50 interactions.
IntActiQ8TDD5. 1 interaction.
STRINGi9606.ENSP00000304843.

Structurei

3D structure databases

ProteinModelPortaliQ8TDD5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG149591.
GeneTreeiENSGT00390000017126.
HOGENOMiHOG000232158.
HOVERGENiHBG052430.
InParanoidiQ8TDD5.
KOiK04994.
OMAiETECFFV.
OrthoDBiEOG7V1FQ9.
PhylomeDBiQ8TDD5.
TreeFamiTF317783.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8TDD5-1) [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
MADPEVVVSS CSSHEEENRC NFNQQTSPSE ELLLEDQMRR KLKFFFMNPC
60 70 80 90 100
EKFWARGRKP WKLAIQILKI AMVTIQLVLF GLSNQMVVAF KEENTIAFKH
110 120 130 140 150
LFLKGYMDRM DDTYAVYTQS DVYDQLIFAV NQYLQLYNVS VGNHAYENKG
160 170 180 190 200
TKQSAMAICQ HFYKRGNIYP GNDTFDIDPE IETECFFVEP DEPFHIGTPA
210 220 230 240 250
ENKLNLTLDF HRLLTVELQF KLKAINLQTV RHQELPDCYD FTLTITFDNK
260 270 280 290 300
AHSGRIKISL DNDISIRECK DWHVSGSIQK NTHYMMIFDA FVILTCLVSL
310 320 330 340 350
ILCIRSVIRG LQLQQEFVNF FLLHYKKEVS VSDQMEFVNG WYIMIIISDI
360 370 380 390 400
LTIIGSILKM EIQAKSLTSY DVCSILLGTS TMLVWLGVIR YLGFFAKYNL
410 420 430 440 450
LILTLQAALP NVIRFCCCAA MIYLGYCFCG WIVLGPYHDK FRSLNMVSEC
460 470 480 490 500
LFSLINGDDM FATFAKMQQK SYLVWLFSRI YLYSFISLFI YMILSLFIAL
510 520 530 540 550
ITDTYETIKQ YQQDGFPETE LRTFISECKD LPNSGKYRLE DDPPVSLFCC

CKK
Length:553
Mass (Da):64,248
Last modified:June 1, 2002 - v1
Checksum:i2E63DA196379F9E3
GO
Isoform 2 (identifier: Q8TDD5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-132: Missing.

Show »
Length:497
Mass (Da):57,723
Checksum:iB014DF953C034761
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti9 – 91S → C in BAA91951 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei77 – 13256Missing in isoform 2. 1 PublicationVSP_010823Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF475085 mRNA. Translation: AAL84622.1.
AK001868 mRNA. Translation: BAA91951.1.
AL358789 Genomic DNA. Translation: CAI14914.1.
AL358789 Genomic DNA. Translation: CAI14913.1.
CCDSiCCDS58009.1. [Q8TDD5-2]
CCDS701.1. [Q8TDD5-1]
RefSeqiNP_001240622.1. NM_001253693.1. [Q8TDD5-2]
NP_060768.8. NM_018298.10. [Q8TDD5-1]
XP_005271060.1. XM_005271003.1. [Q8TDD5-1]
XP_006710813.1. XM_006710750.1. [Q8TDD5-1]
UniGeneiHs.535239.

Genome annotation databases

EnsembliENST00000341115; ENSP00000342698; ENSG00000055732. [Q8TDD5-2]
ENST00000370589; ENSP00000359621; ENSG00000055732. [Q8TDD5-1]
GeneIDi55283.
KEGGihsa:55283.
UCSCiuc001dkp.3. human. [Q8TDD5-1]
uc001dkq.3. human. [Q8TDD5-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF475085 mRNA. Translation: AAL84622.1.
AK001868 mRNA. Translation: BAA91951.1.
AL358789 Genomic DNA. Translation: CAI14914.1.
AL358789 Genomic DNA. Translation: CAI14913.1.
CCDSiCCDS58009.1. [Q8TDD5-2]
CCDS701.1. [Q8TDD5-1]
RefSeqiNP_001240622.1. NM_001253693.1. [Q8TDD5-2]
NP_060768.8. NM_018298.10. [Q8TDD5-1]
XP_005271060.1. XM_005271003.1. [Q8TDD5-1]
XP_006710813.1. XM_006710750.1. [Q8TDD5-1]
UniGeneiHs.535239.

3D structure databases

ProteinModelPortaliQ8TDD5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120571. 50 interactions.
IntActiQ8TDD5. 1 interaction.
STRINGi9606.ENSP00000304843.

Chemistry

ChEMBLiCHEMBL1293243.
GuidetoPHARMACOLOGYi503.

PTM databases

PhosphoSiteiQ8TDD5.

Polymorphism and mutation databases

BioMutaiMCOLN3.
DMDMi50401084.

Proteomic databases

PaxDbiQ8TDD5.
PRIDEiQ8TDD5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341115; ENSP00000342698; ENSG00000055732. [Q8TDD5-2]
ENST00000370589; ENSP00000359621; ENSG00000055732. [Q8TDD5-1]
GeneIDi55283.
KEGGihsa:55283.
UCSCiuc001dkp.3. human. [Q8TDD5-1]
uc001dkq.3. human. [Q8TDD5-2]

Organism-specific databases

CTDi55283.
GeneCardsiGC01M085483.
HGNCiHGNC:13358. MCOLN3.
HPAiHPA018106.
HPA062137.
MIMi607400. gene.
neXtProtiNX_Q8TDD5.
PharmGKBiPA134947324.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG149591.
GeneTreeiENSGT00390000017126.
HOGENOMiHOG000232158.
HOVERGENiHBG052430.
InParanoidiQ8TDD5.
KOiK04994.
OMAiETECFFV.
OrthoDBiEOG7V1FQ9.
PhylomeDBiQ8TDD5.
TreeFamiTF317783.

Enzyme and pathway databases

ReactomeiREACT_169333. TRP channels.

Miscellaneous databases

GeneWikiiMCOLN3.
GenomeRNAii55283.
NextBioi59438.
PROiQ8TDD5.
SOURCEiSearch...

Gene expression databases

BgeeiQ8TDD5.
CleanExiHS_MCOLN3.
ExpressionAtlasiQ8TDD5. baseline and differential.
GenevisibleiQ8TDD5. HS.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of the 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] (ISOFORM 1).
  2. "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: Placenta.
  3. "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].

Entry informationi

Entry nameiMCLN3_HUMAN
AccessioniPrimary (citable) accession number: Q8TDD5
Secondary accession number(s): Q5T4H5, Q5T4H6, Q9NV09
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: June 1, 2002
Last modified: June 24, 2015
This is version 105 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.