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Q9H3U5

- MFSD1_HUMAN

UniProt

Q9H3U5 - MFSD1_HUMAN

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Protein

Major facilitator superfamily domain-containing protein 1

Gene

MFSD1

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

Functioni

GO - Biological processi

  1. transmembrane transport Source: InterPro
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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:25874. MFSD1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei39 – 5921HelicalSequence AnalysisAdd
BLAST
Transmembranei83 – 10321HelicalSequence AnalysisAdd
BLAST
Transmembranei113 – 13321HelicalSequence AnalysisAdd
BLAST
Transmembranei135 – 15521HelicalSequence AnalysisAdd
BLAST
Transmembranei213 – 23321HelicalSequence AnalysisAdd
BLAST
Transmembranei266 – 28621HelicalSequence AnalysisAdd
BLAST
Transmembranei303 – 32321HelicalSequence AnalysisAdd
BLAST
Transmembranei331 – 35121HelicalSequence AnalysisAdd
BLAST
Transmembranei361 – 38121HelicalSequence AnalysisAdd
BLAST
Transmembranei392 – 41221HelicalSequence AnalysisAdd
BLAST
Transmembranei418 – 43821HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134947356.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 465465Major facilitator superfamily domain-containing protein 1PRO_0000273382Add
BLAST

Proteomic databases

MaxQBiQ9H3U5.
PaxDbiQ9H3U5.
PRIDEiQ9H3U5.

PTM databases

PhosphoSiteiQ9H3U5.

Expressioni

Gene expression databases

BgeeiQ9H3U5.
CleanExiHS_MFSD1.
ExpressionAtlasiQ9H3U5. baseline and differential.
GenevestigatoriQ9H3U5.

Interactioni

Protein-protein interaction databases

BioGridi122263. 1 interaction.
MINTiMINT-4723047.

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

eggNOGiCOG0477.
GeneTreeiENSGT00390000011700.
HOVERGENiHBG081969.
InParanoidiQ9H3U5.
OMAiIKFSHTE.
PhylomeDBiQ9H3U5.
TreeFamiTF323603.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[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. Align

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 AAN76517.2 differs from that shown. Reason: Aberrant splicing.Curated
The sequence BAB20269.1 differs from that shown. Reason: Frameshift at positions 289, 296 and 305. Curated
The sequence BAG59980.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti275 – 2751C → R in BAB20269. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241P → S.1 Publication
Corresponds to variant rs28364680 [ dbSNP | Ensembl ].
VAR_030138
Natural varianti168 – 1681K → E.1 Publication
Corresponds to variant rs17854200 [ dbSNP | Ensembl ].
VAR_030139
Natural varianti220 – 2201I → V.2 Publications
Corresponds to variant rs3765083 [ dbSNP | Ensembl ].
VAR_030140
Natural varianti271 – 2711I → T.
Corresponds to variant rs11551240 [ dbSNP | Ensembl ].
VAR_059466

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7373Missing in isoform 4. 1 PublicationVSP_037578Add
BLAST
Alternative sequencei1 – 11M → MGVALRDLPGRHVSSRSHVT AVLTVFHGRCFLPGFGVVTT FPSPSPAGAM in isoform 5 and isoform 6. CuratedVSP_047667
Alternative sequencei55 – 11056GSYFC…VFGIR → AIFAMIILLPFRLKLDE in isoform 3. 1 PublicationVSP_037579Add
BLAST
Alternative sequencei55 – 11056GSYFC…VFGIR → AIFAMIILLPFRLKLNE in isoform 5. CuratedVSP_047668Add
BLAST
Alternative sequencei73 – 786DMQVNT → MGHNHF in isoform 2. 2 PublicationsVSP_022537
Alternative sequencei79 – 465387Missing in isoform 2. 2 PublicationsVSP_022538Add
BLAST

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_006713730.1. [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.

Polymorphism databases

DMDMi124015158.

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 .
CCDSi CCDS3185.2. [Q9H3U5-6 ]
CCDS54666.1. [Q9H3U5-5 ]
RefSeqi NP_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_006713730.1. [Q9H3U5-5 ]
UniGenei Hs.58663.

3D structure databases

ProteinModelPortali Q9H3U5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122263. 1 interaction.
MINTi MINT-4723047.

PTM databases

PhosphoSitei Q9H3U5.

Polymorphism databases

DMDMi 124015158.

Proteomic databases

MaxQBi Q9H3U5.
PaxDbi Q9H3U5.
PRIDEi Q9H3U5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264266 ; 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 ]
GeneIDi 64747.
KEGGi hsa:64747.

Organism-specific databases

CTDi 64747.
GeneCardsi GC03P158449.
HGNCi HGNC:25874. MFSD1.
neXtProti NX_Q9H3U5.
PharmGKBi PA134947356.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0477.
GeneTreei ENSGT00390000011700.
HOVERGENi HBG081969.
InParanoidi Q9H3U5.
OMAi IKFSHTE.
PhylomeDBi Q9H3U5.
TreeFami TF323603.

Miscellaneous databases

GenomeRNAii 64747.
NextBioi 35535368.
PROi Q9H3U5.

Gene expression databases

Bgeei Q9H3U5.
CleanExi HS_MFSD1.
ExpressionAtlasi Q9H3U5. baseline and differential.
Genevestigatori Q9H3U5.

Family and domain databases

InterProi IPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view ]
Pfami PF07690. MFS_1. 1 hit.
[Graphical view ]
SUPFAMi SSF103473. SSF103473. 1 hit.
PROSITEi PS50850. MFS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of human smooth muscle cell associated protein-4 (SMAP-4)."
    Nishimoto S., Toyoda H., Tawara J., Aoki T., Komurasaki T.
    Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Heart.
  2. "Isolation of full-length cDNA clones from human fetal brain cDNA library."
    Mao Y., Xie Y.
    Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Fetal brain.
  3. "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] (ISOFORMS 1; 2; 3 AND 4), VARIANTS SER-24 AND VAL-220.
    Tissue: Brain, Esophagus and Prostate.
  4. "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] (ISOFORMS 1 AND 2), VARIANTS GLU-168 AND VAL-220.
    Tissue: Brain, Duodenum and Lung.

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: October 29, 2014
This is version 93 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

External Data

Dasty 3