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Protein

Major facilitator superfamily domain-containing protein 1

Gene

MFSD1

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 - Biological processi

Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Major facilitator superfamily domain-containing protein 1
Alternative name(s):
Smooth muscle cell-associated protein 4
Short name:
SMAP-4
Gene namesi
Name:MFSD1
Synonyms:SMAP4
ORF Names:UG0581B09
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:25874. MFSD1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei39 – 59HelicalSequence analysisAdd BLAST21
Transmembranei83 – 103HelicalSequence analysisAdd BLAST21
Transmembranei113 – 133HelicalSequence analysisAdd BLAST21
Transmembranei135 – 155HelicalSequence analysisAdd BLAST21
Transmembranei213 – 233HelicalSequence analysisAdd BLAST21
Transmembranei266 – 286HelicalSequence analysisAdd BLAST21
Transmembranei303 – 323HelicalSequence analysisAdd BLAST21
Transmembranei331 – 351HelicalSequence analysisAdd BLAST21
Transmembranei361 – 381HelicalSequence analysisAdd BLAST21
Transmembranei392 – 412HelicalSequence analysisAdd BLAST21
Transmembranei418 – 438HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi64747.
OpenTargetsiENSG00000118855.
PharmGKBiPA134947356.

Polymorphism and mutation databases

BioMutaiMFSD1.
DMDMi124015158.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002733821 – 465Major facilitator superfamily domain-containing protein 1Add BLAST465

Proteomic databases

MaxQBiQ9H3U5.
PaxDbiQ9H3U5.
PeptideAtlasiQ9H3U5.
PRIDEiQ9H3U5.

PTM databases

iPTMnetiQ9H3U5.
PhosphoSitePlusiQ9H3U5.

Expressioni

Gene expression databases

BgeeiENSG00000118855.
CleanExiHS_MFSD1.
ExpressionAtlasiQ9H3U5. baseline and differential.
GenevisibleiQ9H3U5. HS.

Organism-specific databases

HPAiHPA057924.

Interactioni

Protein-protein interaction databases

BioGridi122263. 1 interactor.
MINTiMINT-4723047.
STRINGi9606.ENSP00000403117.

Structurei

3D structure databases

ProteinModelPortaliQ9H3U5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4686. Eukaryota.
COG0477. LUCA.
GeneTreeiENSGT00390000011700.
HOGENOMiHOG000044501.
HOVERGENiHBG081969.
InParanoidiQ9H3U5.
OMAiIKFSHTE.
OrthoDBiEOG091G088U.
PhylomeDBiQ9H3U5.
TreeFamiTF323603.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H3U5-1) [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
MEEEDEEARA LLAGGPDEAD RGAPAAPGAL PALCDPSRLA HRLLVLLLMC
60 70 80 90 100
FLGFGSYFCY DNPAALQTQV KRDMQVNTTK FMLLYAWYSW PNVVLCFFGG
110 120 130 140 150
FLIDRVFGIR WGTIIFSCFV CIGQVVFALG GIFNAFWLME FGRFVFGIGG
160 170 180 190 200
ESLAVAQNTY AVSWFKGKEL NLVFGLQLSM ARIGSTVNMN LMGWLYSKIE
210 220 230 240 250
ALLGSAGHTT LGITLMIGGI TCILSLICAL ALAYLDQRAE RILHKEQGKT
260 270 280 290 300
GEVIKLTDVK DFSLPLWLIF IICVCYYVAV FPFIGLGKVF FTEKFGFSSQ
310 320 330 340 350
AASAINSVVY VISAPMSPVF GLLVDKTGKN IIWVLCAVAA TLVSHMMLAF
360 370 380 390 400
TMWNPWIAMC LLGLSYSLLA CALWPMVAFV VPEHQLGTAY GFMQSIQNLG
410 420 430 440 450
LAIISIIAGM ILDSRGYLFL EVFFIACVSL SLLSVVLLYL VNRAQGGNLN
460
YSARQREEIK FSHTE
Length:465
Mass (Da):51,209
Last modified:January 23, 2007 - v2
Checksum:i24D53BDE6D1CCA26
GO
Isoform 2 (identifier: Q9H3U5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-78: DMQVNT → MGHNHF
     79-465: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:78
Mass (Da):8,458
Checksum:iD51DAB16AA4142A8
GO
Isoform 3 (identifier: Q9H3U5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     55-110: GSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIR → AIFAMIILLPFRLKLDE

Show »
Length:426
Mass (Da):46,619
Checksum:i067A11DF7E19FF70
GO
Isoform 4 (identifier: Q9H3U5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:392
Mass (Da):43,378
Checksum:i0EEA53DEA5449FD4
GO
Isoform 5 (identifier: Q9H3U5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPAGAM
     55-110: GSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIR → AIFAMIILLPFRLKLNE

Show »
Length:475
Mass (Da):51,691
Checksum:iD8BD41951D5D8F71
GO
Isoform 6 (identifier: Q9H3U5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPAGAM

Show »
Length:514
Mass (Da):56,281
Checksum:i01FBF7179429E6AD
GO

Sequence cautioni

The sequence AAH30542 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence AAN76517 differs from that shown. Aberrant splicing.Curated
The sequence BAB20269 differs from that shown. Reason: Frameshift at positions 289, 296 and 305.Curated
The sequence BAG57809 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAG59980 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti275C → R in BAB20269 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03013824P → S.1 PublicationCorresponds to variant rs28364680dbSNPEnsembl.1
Natural variantiVAR_030139168K → E.1 PublicationCorresponds to variant rs17854200dbSNPEnsembl.1
Natural variantiVAR_030140220I → V.2 PublicationsCorresponds to variant rs3765083dbSNPEnsembl.1
Natural variantiVAR_059466271I → T.Corresponds to variant rs11551240dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0375781 – 73Missing in isoform 4. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_0476671M → MGVALRDLPGRHVSSRSHVT AVLTVFHGRCFLPGFGVVTT FPSPSPAGAM in isoform 5 and isoform 6. Curated1
Alternative sequenceiVSP_03757955 – 110GSYFC…VFGIR → AIFAMIILLPFRLKLDE in isoform 3. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_04766855 – 110GSYFC…VFGIR → AIFAMIILLPFRLKLNE in isoform 5. CuratedAdd BLAST56
Alternative sequenceiVSP_02253773 – 78DMQVNT → MGHNHF in isoform 2. 2 Publications6
Alternative sequenceiVSP_02253879 – 465Missing in isoform 2. 2 PublicationsAdd BLAST387

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014732 mRNA. Translation: BAB20269.1. Frameshift.
AF351617 mRNA. Translation: AAN76517.2. Sequence problems.
AK024215 mRNA. Translation: BAB14852.1.
AK294628 mRNA. Translation: BAG57809.1. Sequence problems.
AK297593 mRNA. Translation: BAG59980.1. Different initiation.
AK300497 mRNA. Translation: BAG62211.1.
AK301680 mRNA. Translation: BAG63153.1.
AC080013 Genomic DNA. No translation available.
AC128694 Genomic DNA. No translation available.
BC030542 mRNA. Translation: AAH30542.1. Sequence problems.
BC042197 mRNA. Translation: AAH42197.1.
CCDSiCCDS3185.2. [Q9H3U5-6]
CCDS54666.1. [Q9H3U5-5]
RefSeqiNP_001161375.1. NM_001167903.1. [Q9H3U5-5]
NP_001276335.1. NM_001289406.1.
NP_001276336.1. NM_001289407.1. [Q9H3U5-4]
NP_073573.2. NM_022736.2. [Q9H3U5-6]
XP_006713793.1. XM_006713730.2. [Q9H3U5-5]
UniGeneiHs.58663.

Genome annotation databases

EnsembliENST00000264266; ENSP00000264266; ENSG00000118855. [Q9H3U5-1]
ENST00000392813; ENSP00000376560; ENSG00000118855. [Q9H3U5-5]
ENST00000415822; ENSP00000403117; ENSG00000118855. [Q9H3U5-6]
ENST00000480292; ENSP00000419467; ENSG00000118855. [Q9H3U5-2]
ENST00000484166; ENSP00000417950; ENSG00000118855. [Q9H3U5-2]
ENST00000622669; ENSP00000484175; ENSG00000118855. [Q9H3U5-6]
GeneIDi64747.
KEGGihsa:64747.
UCSCiuc003fcl.3. human. [Q9H3U5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014732 mRNA. Translation: BAB20269.1. Frameshift.
AF351617 mRNA. Translation: AAN76517.2. Sequence problems.
AK024215 mRNA. Translation: BAB14852.1.
AK294628 mRNA. Translation: BAG57809.1. Sequence problems.
AK297593 mRNA. Translation: BAG59980.1. Different initiation.
AK300497 mRNA. Translation: BAG62211.1.
AK301680 mRNA. Translation: BAG63153.1.
AC080013 Genomic DNA. No translation available.
AC128694 Genomic DNA. No translation available.
BC030542 mRNA. Translation: AAH30542.1. Sequence problems.
BC042197 mRNA. Translation: AAH42197.1.
CCDSiCCDS3185.2. [Q9H3U5-6]
CCDS54666.1. [Q9H3U5-5]
RefSeqiNP_001161375.1. NM_001167903.1. [Q9H3U5-5]
NP_001276335.1. NM_001289406.1.
NP_001276336.1. NM_001289407.1. [Q9H3U5-4]
NP_073573.2. NM_022736.2. [Q9H3U5-6]
XP_006713793.1. XM_006713730.2. [Q9H3U5-5]
UniGeneiHs.58663.

3D structure databases

ProteinModelPortaliQ9H3U5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122263. 1 interactor.
MINTiMINT-4723047.
STRINGi9606.ENSP00000403117.

PTM databases

iPTMnetiQ9H3U5.
PhosphoSitePlusiQ9H3U5.

Polymorphism and mutation databases

BioMutaiMFSD1.
DMDMi124015158.

Proteomic databases

MaxQBiQ9H3U5.
PaxDbiQ9H3U5.
PeptideAtlasiQ9H3U5.
PRIDEiQ9H3U5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264266; ENSP00000264266; ENSG00000118855. [Q9H3U5-1]
ENST00000392813; ENSP00000376560; ENSG00000118855. [Q9H3U5-5]
ENST00000415822; ENSP00000403117; ENSG00000118855. [Q9H3U5-6]
ENST00000480292; ENSP00000419467; ENSG00000118855. [Q9H3U5-2]
ENST00000484166; ENSP00000417950; ENSG00000118855. [Q9H3U5-2]
ENST00000622669; ENSP00000484175; ENSG00000118855. [Q9H3U5-6]
GeneIDi64747.
KEGGihsa:64747.
UCSCiuc003fcl.3. human. [Q9H3U5-1]

Organism-specific databases

CTDi64747.
DisGeNETi64747.
GeneCardsiMFSD1.
HGNCiHGNC:25874. MFSD1.
HPAiHPA057924.
neXtProtiNX_Q9H3U5.
OpenTargetsiENSG00000118855.
PharmGKBiPA134947356.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4686. Eukaryota.
COG0477. LUCA.
GeneTreeiENSGT00390000011700.
HOGENOMiHOG000044501.
HOVERGENiHBG081969.
InParanoidiQ9H3U5.
OMAiIKFSHTE.
OrthoDBiEOG091G088U.
PhylomeDBiQ9H3U5.
TreeFamiTF323603.

Miscellaneous databases

GenomeRNAii64747.
PROiQ9H3U5.

Gene expression databases

BgeeiENSG00000118855.
CleanExiHS_MFSD1.
ExpressionAtlasiQ9H3U5. baseline and differential.
GenevisibleiQ9H3U5. HS.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMFSD1_HUMAN
AccessioniPrimary (citable) accession number: Q9H3U5
Secondary accession number(s): B4DGJ8
, B4DMR8, B4DU49, B4DWU1, C9JS94, J3KQL7, Q05C07, Q5XKJ1, Q8IVS1, Q8IXG4, Q9H7X1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 23, 2007
Last modified: November 2, 2016
This is version 111 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 3
    Human chromosome 3: 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.