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Q8TDD5

- MCLN3_HUMAN

UniProt

Q8TDD5 - MCLN3_HUMAN

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Protein

Mucolipin-3

Gene
MCOLN3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Biological processi

  1. auditory receptor cell differentiation Source: Ensembl
  2. calcium ion transmembrane transport Source: Reactome
  3. ion transmembrane transport Source: Reactome
  4. locomotory behavior Source: Ensembl
  5. transmembrane transport Source: Reactome
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: Chromosome 1

Organism-specific databases

HGNCiHGNC:13358. MCOLN3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei63 – 8321Helical; Reviewed predictionAdd
BLAST
Transmembranei284 – 30421Helical; Reviewed predictionAdd
BLAST
Transmembranei337 – 35721Helical; Reviewed predictionAdd
BLAST
Transmembranei375 – 39521Helical; Reviewed predictionAdd
BLAST
Transmembranei415 – 43521Helical; Reviewed predictionAdd
BLAST
Transmembranei480 – 50021Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134947324.

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

ArrayExpressiQ8TDD5.
BgeeiQ8TDD5.
CleanExiHS_MCOLN3.
GenevestigatoriQ8TDD5.

Organism-specific databases

HPAiCAB037307.
HPA018106.

Interactioni

Protein-protein interaction databases

BioGridi120571. 2 interactions.
IntActiQ8TDD5. 1 interaction.
STRINGi9606.ENSP00000304843.

Structurei

3D structure databases

ProteinModelPortaliQ8TDD5.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG149591.
HOGENOMiHOG000232158.
HOVERGENiHBG052430.
InParanoidiQ8TDD5.
KOiK04994.
OMAiECFFVEP.
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. Align

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

MADPEVVVSS CSSHEEENRC NFNQQTSPSE ELLLEDQMRR KLKFFFMNPC    50
EKFWARGRKP WKLAIQILKI AMVTIQLVLF GLSNQMVVAF KEENTIAFKH 100
LFLKGYMDRM DDTYAVYTQS DVYDQLIFAV NQYLQLYNVS VGNHAYENKG 150
TKQSAMAICQ HFYKRGNIYP GNDTFDIDPE IETECFFVEP DEPFHIGTPA 200
ENKLNLTLDF HRLLTVELQF KLKAINLQTV RHQELPDCYD FTLTITFDNK 250
AHSGRIKISL DNDISIRECK DWHVSGSIQK NTHYMMIFDA FVILTCLVSL 300
ILCIRSVIRG LQLQQEFVNF FLLHYKKEVS VSDQMEFVNG WYIMIIISDI 350
LTIIGSILKM EIQAKSLTSY DVCSILLGTS TMLVWLGVIR YLGFFAKYNL 400
LILTLQAALP NVIRFCCCAA MIYLGYCFCG WIVLGPYHDK FRSLNMVSEC 450
LFSLINGDDM FATFAKMQQK SYLVWLFSRI YLYSFISLFI YMILSLFIAL 500
ITDTYETIKQ YQQDGFPETE LRTFISECKD LPNSGKYRLE DDPPVSLFCC 550
CKK 553
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei77 – 13256Missing in isoform 2. VSP_010823Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti9 – 91S → C in BAA91951. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
XP_006710814.1. XM_006710751.1. [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]

Polymorphism databases

DMDMi50401084.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF475085 mRNA. Translation: AAL84622.1 .
AK001868 mRNA. Translation: BAA91951.1 .
AL358789 Genomic DNA. Translation: CAI14914.1 .
AL358789 Genomic DNA. Translation: CAI14913.1 .
CCDSi CCDS58009.1. [Q8TDD5-2 ]
CCDS701.1. [Q8TDD5-1 ]
RefSeqi NP_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 ]
XP_006710814.1. XM_006710751.1. [Q8TDD5-1 ]
UniGenei Hs.535239.

3D structure databases

ProteinModelPortali Q8TDD5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120571. 2 interactions.
IntActi Q8TDD5. 1 interaction.
STRINGi 9606.ENSP00000304843.

Chemistry

ChEMBLi CHEMBL1293243.
GuidetoPHARMACOLOGYi 503.

PTM databases

PhosphoSitei Q8TDD5.

Polymorphism databases

DMDMi 50401084.

Proteomic databases

PaxDbi Q8TDD5.
PRIDEi Q8TDD5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000341115 ; ENSP00000342698 ; ENSG00000055732 . [Q8TDD5-2 ]
ENST00000370589 ; ENSP00000359621 ; ENSG00000055732 . [Q8TDD5-1 ]
GeneIDi 55283.
KEGGi hsa:55283.
UCSCi uc001dkp.3. human. [Q8TDD5-1 ]
uc001dkq.3. human. [Q8TDD5-2 ]

Organism-specific databases

CTDi 55283.
GeneCardsi GC01M085483.
HGNCi HGNC:13358. MCOLN3.
HPAi CAB037307.
HPA018106.
MIMi 607400. gene.
neXtProti NX_Q8TDD5.
PharmGKBi PA134947324.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG149591.
HOGENOMi HOG000232158.
HOVERGENi HBG052430.
InParanoidi Q8TDD5.
KOi K04994.
OMAi ECFFVEP.
OrthoDBi EOG7V1FQ9.
PhylomeDBi Q8TDD5.
TreeFami TF317783.

Enzyme and pathway databases

Reactomei REACT_169333. TRP channels.

Miscellaneous databases

GeneWikii MCOLN3.
GenomeRNAii 55283.
NextBioi 59438.
PROi Q8TDD5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8TDD5.
Bgeei Q8TDD5.
CleanExi HS_MCOLN3.
Genevestigatori Q8TDD5.

Family and domain databases

InterProi IPR013122. PKD1_2_channel.
[Graphical view ]
Pfami PF08016. PKD_channel. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 99 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

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