Q8TDD5 (MCLN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mucolipin-3

Gene names

Name:

MCOLN3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	553 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN3 sub-subfamily. [View classification]

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Molecular function	Ion channel
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	auditory receptor cell differentiation Inferred from electronic annotation. Source: Compara ion transport Inferred from electronic annotation. Source: UniProtKB-KW locomotory behavior Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TDD5-1)

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.

Isoform 2 (identifier: Q8TDD5-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 553	553	Mucolipin-3		PRO_0000215367
Regions
	Transmembrane	63 – 83	21	Helical; Potential
	Transmembrane	284 – 304	21	Helical; Potential
	Transmembrane	337 – 357	21	Helical; Potential
	Transmembrane	375 – 395	21	Helical; Potential
	Transmembrane	415 – 435	21	Helical; Potential
	Transmembrane	480 – 500	21	Helical; Potential
Natural variations
	Alternative sequence	77 – 132	56	Missing in isoform 2.		VSP_010823
Experimental info
	Sequence conflict	9	1	S → C in BAA91951. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: 2E63DA196379F9E3	FASTA	553	64,248
	10 20 30 40 50 60 MADPEVVVSS CSSHEEENRC NFNQQTSPSE ELLLEDQMRR KLKFFFMNPC EKFWARGRKP 70 80 90 100 110 120 WKLAIQILKI AMVTIQLVLF GLSNQMVVAF KEENTIAFKH LFLKGYMDRM DDTYAVYTQS 130 140 150 160 170 180 DVYDQLIFAV NQYLQLYNVS VGNHAYENKG TKQSAMAICQ HFYKRGNIYP GNDTFDIDPE 190 200 210 220 230 240 IETECFFVEP DEPFHIGTPA ENKLNLTLDF HRLLTVELQF KLKAINLQTV RHQELPDCYD 250 260 270 280 290 300 FTLTITFDNK AHSGRIKISL DNDISIRECK DWHVSGSIQK NTHYMMIFDA FVILTCLVSL 310 320 330 340 350 360 ILCIRSVIRG LQLQQEFVNF FLLHYKKEVS VSDQMEFVNG WYIMIIISDI LTIIGSILKM 370 380 390 400 410 420 EIQAKSLTSY DVCSILLGTS TMLVWLGVIR YLGFFAKYNL LILTLQAALP NVIRFCCCAA 430 440 450 460 470 480 MIYLGYCFCG WIVLGPYHDK FRSLNMVSEC LFSLINGDDM FATFAKMQQK SYLVWLFSRI 490 500 510 520 530 540 YLYSFISLFI YMILSLFIAL ITDTYETIKQ YQQDGFPETE LRTFISECKD LPNSGKYRLE 550 DDPPVSLFCC CKK
	Isoform 2 [UniParc]. Checksum: B014DF953C034761	FASTA	497	57,723
	10 20 30 40 50 60 MADPEVVVSS CSSHEEENRC NFNQQTSPSE ELLLEDQMRR KLKFFFMNPC EKFWARGRKP 70 80 90 100 110 120 WKLAIQILKI AMVTIQYLQL YNVSVGNHAY ENKGTKQSAM AICQHFYKRG NIYPGNDTFD 130 140 150 160 170 180 IDPEIETECF FVEPDEPFHI GTPAENKLNL TLDFHRLLTV ELQFKLKAIN LQTVRHQELP 190 200 210 220 230 240 DCYDFTLTIT FDNKAHSGRI KISLDNDISI RECKDWHVSG SIQKNTHYMM IFDAFVILTC 250 260 270 280 290 300 LVSLILCIRS VIRGLQLQQE FVNFFLLHYK KEVSVSDQME FVNGWYIMII ISDILTIIGS 310 320 330 340 350 360 ILKMEIQAKS LTSYDVCSIL LGTSTMLVWL GVIRYLGFFA KYNLLILTLQ AALPNVIRFC 370 380 390 400 410 420 CCAAMIYLGY CFCGWIVLGP YHDKFRSLNM VSECLFSLIN GDDMFATFAK MQQKSYLVWL 430 440 450 460 470 480 FSRIYLYSFI SLFIYMILSL FIALITDTYE TIKQYQQDGF PETELRTFIS ECKDLPNSGK 490 YRLEDDPPVS LFCCCKK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF475085 mRNA. Translation: AAL84622.1. AK001868 mRNA. Translation: BAA91951.1. AL358789 Genomic DNA. Translation: CAI14914.1. AL358789 Genomic DNA. Translation: CAI14913.1.
IPI	IPI00442997. IPI00442999.
RefSeq	NP_001240622.1. NM_001253693.1. NP_060768.8. NM_018298.10.
UniGene	Hs.535239.
3D structure databases
ProteinModelPortal	Q8TDD5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000304843.
PTM databases
PhosphoSite	Q8TDD5.
Polymorphism databases
DMDM	50401084.
Proteomic databases
PaxDb	Q8TDD5.
PRIDE	Q8TDD5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000302814; ENSP00000304843; ENSG00000055732. ENST00000341115; ENSP00000342698; ENSG00000055732. ENST00000370588; ENSP00000359620; ENSG00000055732. ENST00000370589; ENSP00000359621; ENSG00000055732.
GeneID	55283.
KEGG	hsa:55283.
UCSC	uc001dkp.3. human. uc001dkq.3. human.
Organism-specific databases
CTD	55283.
GeneCards	GC01M085483.
HGNC	HGNC:13358. MCOLN3.
HPA	HPA018106.
MIM	607400. gene.
neXtProt	NX_Q8TDD5.
PharmGKB	PA134947324.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG149591.
HOGENOM	HOG000232158.
HOVERGEN	HBG052430.
InParanoid	Q8TDD5.
KO	K04994.
OMA	ECFFVEP.
OrthoDB	EOG4R23TW.
PhylomeDB	Q8TDD5.
Gene expression databases
ArrayExpress	Q8TDD5.
Bgee	Q8TDD5.
CleanEx	HS_MCOLN3.
Genevestigator	Q8TDD5.
GermOnline	ENSG00000055732. Homo sapiens.
Family and domain databases
InterPro	IPR013122. PKD1_2_channel. [Graphical view]
Pfam	PF08016. PKD_channel. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	55283.
NextBio	59438.
SOURCE	Search...

Entry information

Entry name

MCLN3_HUMAN

Accession

Primary (citable) accession number: Q8TDD5
Secondary accession number(s): Q5T4H5, Q5T4H6, Q9NV09

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2004
Last sequence update:	June 1, 2002
Last modified:	May 1, 2013
This is version 85 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.