Q6ZSM3 (MOT12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Monocarboxylate transporter 12
Short name=MCT 12

Alternative name(s):
Solute carrier family 16 member 12

Gene names

Name:	SLC16A12
Synonyms:	MCT12

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	486 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates By similarity.
Subcellular location	Cell membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Most highly expressed in kidney, followed by retina, lung, and testis. Very weakly expressed in brain and liver. Also detected in lens. Ref.4
Involvement in disease	Cataract juvenile with microcornea and glucosuria (CJMG) [MIM:612018]: Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities	Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. [View classification]
Sequence caution	The sequence BAC85987.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Symport Transport
Cellular component	Cell membrane Membrane
Disease	Cataract
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	symporter activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 486	486	Monocarboxylate transporter 12		PRO_0000286675
Regions
	Topological domain	1 – 20	20	Extracellular Potential
	Transmembrane	21 – 43	23	Helical; Potential
	Topological domain	44 – 57	14	Cytoplasmic Potential
	Transmembrane	58 – 78	21	Helical; Potential
	Topological domain	79 – 85	7	Extracellular Potential
	Transmembrane	86 – 106	21	Helical; Potential
	Topological domain	107 – 114	8	Cytoplasmic Potential
	Transmembrane	115 – 135	21	Helical; Potential
	Topological domain	136 – 147	12	Extracellular Potential
	Transmembrane	148 – 168	21	Helical; Potential
	Topological domain	169 – 176	8	Cytoplasmic Potential
	Transmembrane	177 – 197	21	Helical; Potential
	Topological domain	198 – 252	55	Extracellular Potential
	Transmembrane	253 – 273	21	Helical; Potential
	Topological domain	274 – 288	15	Cytoplasmic Potential
	Transmembrane	289 – 309	21	Helical; Potential
	Topological domain	310 – 319	10	Extracellular Potential
	Transmembrane	320 – 340	21	Helical; Potential
	Topological domain	341 – 346	6	Cytoplasmic Potential
	Transmembrane	347 – 367	21	Helical; Potential
	Topological domain	368 – 379	12	Extracellular Potential
	Transmembrane	380 – 400	21	Helical; Potential
	Topological domain	401 – 409	9	Cytoplasmic Potential
	Transmembrane	410 – 430	21	Helical; Potential
	Topological domain	431 – 486	56	Extracellular Potential
Experimental info
	Sequence conflict	304	1	I → T in BAC86925. Ref.1
	Sequence conflict	333	1	C → S in BAC85987. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q6ZSM3 [UniParc]. Last modified May 15, 2007. Version 2. Checksum: 6132997A6DB7D0FB	FASTA	486	53,075
	10 20 30 40 50 60 MAKVNRARST SPPDGGWGWM IVAGCFLVTI CTRAVTRCIS IFFVEFQTYF TQDYAQTAWI 70 80 90 100 110 120 HSIVDCVTML CAPLGSVVSN HLSCQVGIML GGLLASTGLI LSSFATSLKH LYLTLGVLTG 130 140 150 160 170 180 LGFALCYSPA IAMVGKYFSR RKALAYGIAM SGSGIGTFIL APVVQLLIEQ FSWRGALLIL 190 200 210 220 230 240 GGFVLNLCVC GALMRPITLK EDHTTPEQNH VCRTQKEDIK RVSPYSSLTK EWAQTCLCCC 250 260 270 280 290 300 LQQEYSFLLM SDFVVLAVSV LFMAYGCSPL FVYLVPYALS VGVSHQQAAF LMSILGVIDI 310 320 330 340 350 360 IGNITFGWLT DRRCLKNYQY VCYLFAVGMD GLCYLCLPML QSLPLLVPFS CTFGYFDGAY 370 380 390 400 410 420 VTLIPVVTTE IVGTTSLSSA LGVVYFLHAV PYLVSPPIAG RLVDTTGSYT AAFLLCGFSM 430 440 450 460 470 480 IFSSVLLGFA RLIKRMRKTQ LQFIAKESDP KLQLWTNGSV AYSVARELDQ KHGEPVATAV PGYSLT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]. Tissue: Hippocampus.
[2]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] OF 220-486. Tissue: Cardiac myocyte and Skeletal muscle.
[4]	"Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria." Kloeckener-Gruissem B., Vandekerckhove K., Nuernberg G., Neidhardt J., Zeitz C., Nuernberg P., Schipper I., Berger W. Am. J. Hum. Genet. 82:772-779(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN CJMG, TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK124901 mRNA. Translation: BAC85987.1. Different initiation. AK127303 mRNA. Translation: BAC86925.1. AL353146 Genomic DNA. Translation: CAI12383.2. BC086873 mRNA. Translation: AAH86873.1.
IPI	IPI00412702.
RefSeq	NP_998771.3. NM_213606.3.
UniGene	Hs.530338.
3D structure databases
ProteinModelPortal	Q6ZSM3.
SMR	Q6ZSM3. Positions 58-107.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000343022.
Polymorphism databases
DMDM	147704293.
Proteomic databases
PaxDb	Q6ZSM3.
PRIDE	Q6ZSM3.
Protocols and materials databases
DNASU	387700.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341233; ENSP00000343022; ENSG00000152779.
GeneID	387700.
KEGG	hsa:387700.
Organism-specific databases
CTD	387700.
GeneCards	GC10M091181.
HGNC	HGNC:23094. SLC16A12.
HPA	HPA037587.
MIM	611910. gene. 612018. phenotype.
neXtProt	NX_Q6ZSM3.
Orphanet	247794. Juvenile cataract - microcornea - renal glucosuria.
PharmGKB	PA134969386.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0477.
HOGENOM	HOG000280688.
HOVERGEN	HBG097674.
InParanoid	Q6ZSM3.
KO	K11810.
OrthoDB	EOG46WZ8C.
Gene expression databases
ArrayExpress	Q6ZSM3.
Bgee	Q6ZSM3.
CleanEx	HS_SLC16A12.
Genevestigator	Q6ZSM3.
Family and domain databases
InterPro	IPR011701. MFS. IPR020846. MFS_dom. IPR016196. MFS_dom_general_subst_transpt. [Graphical view]
Pfam	PF07690. MFS_1. 1 hit. [Graphical view]
SUPFAM	SSF103473. MFS_gen_substrate_transporter. 1 hit.
PROSITE	PS50850. MFS. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	387700.
NextBio	101521.
SOURCE	Search...

Entry information

Entry name

MOT12_HUMAN

Accession

Primary (citable) accession number: Q6ZSM3
Secondary accession number(s): Q5M9M9, Q5T7J2, Q6ZV76

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	May 15, 2007
Last modified:	May 1, 2013
This is version 80 of the entry and version 2 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.