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Protein

Major facilitator superfamily domain-containing protein 12

Gene

MFSD12

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

Functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Major facilitator superfamily domain-containing protein 12
Gene namesi
Name:MFSD12
Synonyms:C19orf28
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:28299. MFSD12.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei27 – 47HelicalSequence analysisAdd BLAST21
Transmembranei57 – 77HelicalSequence analysisAdd BLAST21
Transmembranei98 – 118HelicalSequence analysisAdd BLAST21
Transmembranei125 – 145HelicalSequence analysisAdd BLAST21
Transmembranei171 – 191HelicalSequence analysisAdd BLAST21
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21
Transmembranei280 – 302HelicalSequence analysisAdd BLAST23
Transmembranei311 – 331HelicalSequence analysisAdd BLAST21
Transmembranei348 – 368HelicalSequence analysisAdd BLAST21
Transmembranei369 – 389HelicalSequence analysisAdd BLAST21
Transmembranei403 – 423HelicalSequence analysisAdd BLAST21
Transmembranei447 – 467HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • lysosomal membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi126321.
OpenTargetsiENSG00000161091.
PharmGKBiPA134955537.

Polymorphism and mutation databases

BioMutaiMFSD12.
DMDMi125991816.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002745221 – 480Major facilitator superfamily domain-containing protein 12Add BLAST480

Proteomic databases

MaxQBiQ6NUT3.
PaxDbiQ6NUT3.
PeptideAtlasiQ6NUT3.
PRIDEiQ6NUT3.

PTM databases

iPTMnetiQ6NUT3.
PhosphoSitePlusiQ6NUT3.
SwissPalmiQ6NUT3.

Expressioni

Gene expression databases

BgeeiENSG00000161091.
CleanExiHS_C19orf28.
ExpressionAtlasiQ6NUT3. baseline and differential.
GenevisibleiQ6NUT3. HS.

Organism-specific databases

HPAiHPA042149.
HPA043088.

Interactioni

Protein-protein interaction databases

BioGridi125979. 7 interactors.
IntActiQ6NUT3. 1 interactor.
STRINGi9606.ENSP00000381566.

Structurei

3D structure databases

ProteinModelPortaliQ6NUT3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IMQF. Eukaryota.
ENOG4111I58. LUCA.
GeneTreeiENSGT00390000016464.
HOGENOMiHOG000006540.
HOVERGENiHBG056517.
InParanoidiQ6NUT3.
OMAiIENQYRW.
OrthoDBiEOG091G0GHZ.
PhylomeDBiQ6NUT3.
TreeFamiTF314080.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR020846. MFS_dom.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6NUT3-1) [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
MGPGPPAAGA APSPRPLSLV ARLSYAVGHF LNDLCASMWF TYLLLYLHSV
60 70 80 90 100
RAYSSRGAGL LLLLGQVADG LCTPLVGYEA DRAASCCARY GPRKAWHLVG
110 120 130 140 150
TVCVLLSFPF IFSPCLGCGA ATPEWAALLY YGPFIVIFQF GWASTQISHL
160 170 180 190 200
SLIPELVTND HEKVELTALR YAFTVVANIT VYGAAWLLLH LQGSSRVEPT
210 220 230 240 250
QDISISDQLG GQDVPVFRNL SLLVVGVGAV FSLLFHLGTR ERRRPHAEEP
260 270 280 290 300
GEHTPLLAPA TAQPLLLWKH WLREPAFYQV GILYMTTRLI VNLSQTYMAM
310 320 330 340 350
YLTYSLHLPK KFIATIPLVM YLSGFLSSFL MKPINKCIGR NMTYFSGLLV
360 370 380 390 400
ILAFAAWVAL AEGLGVAVYA AAVLLGAGCA TILVTSLAMT ADLIGPHTNS
410 420 430 440 450
GAFVYGSMSF LDKVANGLAV MAIQSLHPCP SELCCRACVS FYHWAMVAVT
460 470 480
GGVGVAAALC LCSLLLWPTR LRRWDRDARP
Length:480
Mass (Da):52,075
Last modified:February 6, 2007 - v2
Checksum:i8F995556BE29E8C1
GO
Isoform 2 (identifier: Q6NUT3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     92-100: Missing.

Show »
Length:471
Mass (Da):51,030
Checksum:i227460FB5CBFED0D
GO
Isoform 3 (identifier: Q6NUT3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     474-480: WDRDARP → SFLAWRRGRGEDKGPGYSWIPTVLVQPPRPTSPFLWEAPLAWRCTRKKWSGAGTKPWPREDWGTH

Note: No experimental confirmation available.
Show »
Length:538
Mass (Da):58,707
Checksum:i394DCC7026CC0394
GO
Isoform 4 (identifier: Q6NUT3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     474-480: Missing.

Note: No experimental confirmation available.
Show »
Length:473
Mass (Da):51,178
Checksum:i51B841A478EE0228
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti441F → L in AAH68439 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030309182Y → H.Corresponds to variant rs2240751dbSNPEnsembl.1
Natural variantiVAR_050300203I → V.Corresponds to variant rs34562175dbSNPEnsembl.1
Natural variantiVAR_030310243R → H.Corresponds to variant rs10414812dbSNPEnsembl.1
Natural variantiVAR_050301395G → S.Corresponds to variant rs34878396dbSNPEnsembl.1
Natural variantiVAR_030311476R → C.Corresponds to variant rs7252640dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02277992 – 100Missing in isoform 2. 1 Publication9
Alternative sequenceiVSP_047665474 – 480WDRDARP → SFLAWRRGRGEDKGPGYSWI PTVLVQPPRPTSPFLWEAPL AWRCTRKKWSGAGTKPWPRE DWGTH in isoform 3. Curated7
Alternative sequenceiVSP_047666474 – 480Missing in isoform 4. Curated7

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC005786 Genomic DNA. No translation available.
AC005787 Genomic DNA. No translation available.
CH471139 Genomic DNA. Translation: EAW69309.1.
CH471139 Genomic DNA. Translation: EAW69311.1.
BC036706 mRNA. Translation: AAH36706.1.
BC068439 mRNA. Translation: AAH68439.1.
CCDSiCCDS42465.1. [Q6NUT3-1]
CCDS74256.1. [Q6NUT3-2]
RefSeqiNP_001274458.1. NM_001287529.1. [Q6NUT3-2]
NP_778148.2. NM_174983.4. [Q6NUT3-1]
XP_006722710.1. XM_006722647.3. [Q6NUT3-3]
XP_011525986.1. XM_011527684.2. [Q6NUT3-4]
UniGeneiHs.656901.

Genome annotation databases

EnsembliENST00000355415; ENSP00000347583; ENSG00000161091. [Q6NUT3-1]
ENST00000389395; ENSP00000374046; ENSG00000161091. [Q6NUT3-2]
ENST00000588918; ENSP00000467207; ENSG00000161091. [Q6NUT3-2]
GeneIDi126321.
KEGGihsa:126321.
UCSCiuc002lxz.5. human. [Q6NUT3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC005786 Genomic DNA. No translation available.
AC005787 Genomic DNA. No translation available.
CH471139 Genomic DNA. Translation: EAW69309.1.
CH471139 Genomic DNA. Translation: EAW69311.1.
BC036706 mRNA. Translation: AAH36706.1.
BC068439 mRNA. Translation: AAH68439.1.
CCDSiCCDS42465.1. [Q6NUT3-1]
CCDS74256.1. [Q6NUT3-2]
RefSeqiNP_001274458.1. NM_001287529.1. [Q6NUT3-2]
NP_778148.2. NM_174983.4. [Q6NUT3-1]
XP_006722710.1. XM_006722647.3. [Q6NUT3-3]
XP_011525986.1. XM_011527684.2. [Q6NUT3-4]
UniGeneiHs.656901.

3D structure databases

ProteinModelPortaliQ6NUT3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125979. 7 interactors.
IntActiQ6NUT3. 1 interactor.
STRINGi9606.ENSP00000381566.

PTM databases

iPTMnetiQ6NUT3.
PhosphoSitePlusiQ6NUT3.
SwissPalmiQ6NUT3.

Polymorphism and mutation databases

BioMutaiMFSD12.
DMDMi125991816.

Proteomic databases

MaxQBiQ6NUT3.
PaxDbiQ6NUT3.
PeptideAtlasiQ6NUT3.
PRIDEiQ6NUT3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355415; ENSP00000347583; ENSG00000161091. [Q6NUT3-1]
ENST00000389395; ENSP00000374046; ENSG00000161091. [Q6NUT3-2]
ENST00000588918; ENSP00000467207; ENSG00000161091. [Q6NUT3-2]
GeneIDi126321.
KEGGihsa:126321.
UCSCiuc002lxz.5. human. [Q6NUT3-1]

Organism-specific databases

CTDi126321.
DisGeNETi126321.
GeneCardsiMFSD12.
HGNCiHGNC:28299. MFSD12.
HPAiHPA042149.
HPA043088.
neXtProtiNX_Q6NUT3.
OpenTargetsiENSG00000161091.
PharmGKBiPA134955537.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IMQF. Eukaryota.
ENOG4111I58. LUCA.
GeneTreeiENSGT00390000016464.
HOGENOMiHOG000006540.
HOVERGENiHBG056517.
InParanoidiQ6NUT3.
OMAiIENQYRW.
OrthoDBiEOG091G0GHZ.
PhylomeDBiQ6NUT3.
TreeFamiTF314080.

Miscellaneous databases

ChiTaRSiMFSD12. human.
GenomeRNAii126321.
PROiQ6NUT3.

Gene expression databases

BgeeiENSG00000161091.
CleanExiHS_C19orf28.
ExpressionAtlasiQ6NUT3. baseline and differential.
GenevisibleiQ6NUT3. HS.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR020846. MFS_dom.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMFS12_HUMAN
AccessioniPrimary (citable) accession number: Q6NUT3
Secondary accession number(s): A8MXP7
, D6W615, E9PAJ8, Q8N459
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: November 2, 2016
This is version 98 of the entry and version 2 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 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. 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.