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Q9H3U5 (MFSD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Major facilitator superfamily domain-containing protein 1
Alternative name(s):
Smooth muscle cell-associated protein 4
Short name=SMAP-4
Gene names
Name:MFSD1
Synonyms:SMAP4
ORF Names:UG0581B09
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length465 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence similarities

Belongs to the major facilitator superfamily.

Sequence caution

The sequence AAH30542.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

The sequence AAN76517.2 differs from that shown. Reason: Aberrant splicing.

The sequence BAB20269.1 differs from that shown. Reason: Frameshift at positions 289, 296 and 305.

The sequence BAG57809.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

The sequence BAG59980.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processtransmembrane transport

Inferred from electronic annotation. Source: InterPro

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H3U5-1)

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: Q9H3U5-2)

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.
Isoform 3 (identifier: Q9H3U5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     55-110: GSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIR → AIFAMIILLPFRLKLDE
Isoform 4 (identifier: Q9H3U5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.
Isoform 5 (identifier: Q9H3U5-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPAGAM
     55-110: GSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIR → AIFAMIILLPFRLKLNE
Isoform 6 (identifier: Q9H3U5-6)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 465465Major facilitator superfamily domain-containing protein 1
PRO_0000273382

Regions

Transmembrane39 – 5921Helical; Potential
Transmembrane83 – 10321Helical; Potential
Transmembrane113 – 13321Helical; Potential
Transmembrane135 – 15521Helical; Potential
Transmembrane213 – 23321Helical; Potential
Transmembrane266 – 28621Helical; Potential
Transmembrane303 – 32321Helical; Potential
Transmembrane331 – 35121Helical; Potential
Transmembrane361 – 38121Helical; Potential
Transmembrane392 – 41221Helical; Potential
Transmembrane418 – 43821Helical; Potential

Natural variations

Alternative sequence1 – 7373Missing in isoform 4.
VSP_037578
Alternative sequence11M → MGVALRDLPGRHVSSRSHVT AVLTVFHGRCFLPGFGVVTT FPSPSPAGAM in isoform 5 and isoform 6.
VSP_047667
Alternative sequence55 – 11056GSYFC…VFGIR → AIFAMIILLPFRLKLDE in isoform 3.
VSP_037579
Alternative sequence55 – 11056GSYFC…VFGIR → AIFAMIILLPFRLKLNE in isoform 5.
VSP_047668
Alternative sequence73 – 786DMQVNT → MGHNHF in isoform 2.
VSP_022537
Alternative sequence79 – 465387Missing in isoform 2.
VSP_022538
Natural variant241P → S. Ref.3
Corresponds to variant rs28364680 [ dbSNP | Ensembl ].
VAR_030138
Natural variant1681K → E. Ref.4
Corresponds to variant rs17854200 [ dbSNP | Ensembl ].
VAR_030139
Natural variant2201I → V. Ref.3 Ref.4
Corresponds to variant rs3765083 [ dbSNP | Ensembl ].
VAR_030140
Natural variant2711I → T.
Corresponds to variant rs11551240 [ dbSNP | Ensembl ].
VAR_059466

Experimental info

Sequence conflict2751C → R in BAB20269. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 24D53BDE6D1CCA26

FASTA46551,209
        10         20         30         40         50         60 
MEEEDEEARA LLAGGPDEAD RGAPAAPGAL PALCDPSRLA HRLLVLLLMC FLGFGSYFCY 

        70         80         90        100        110        120 
DNPAALQTQV KRDMQVNTTK FMLLYAWYSW PNVVLCFFGG FLIDRVFGIR WGTIIFSCFV 

       130        140        150        160        170        180 
CIGQVVFALG GIFNAFWLME FGRFVFGIGG ESLAVAQNTY AVSWFKGKEL NLVFGLQLSM 

       190        200        210        220        230        240 
ARIGSTVNMN LMGWLYSKIE ALLGSAGHTT LGITLMIGGI TCILSLICAL ALAYLDQRAE 

       250        260        270        280        290        300 
RILHKEQGKT GEVIKLTDVK DFSLPLWLIF IICVCYYVAV FPFIGLGKVF FTEKFGFSSQ 

       310        320        330        340        350        360 
AASAINSVVY VISAPMSPVF GLLVDKTGKN IIWVLCAVAA TLVSHMMLAF TMWNPWIAMC 

       370        380        390        400        410        420 
LLGLSYSLLA CALWPMVAFV VPEHQLGTAY GFMQSIQNLG LAIISIIAGM ILDSRGYLFL 

       430        440        450        460 
EVFFIACVSL SLLSVVLLYL VNRAQGGNLN YSARQREEIK FSHTE 

« Hide

Isoform 2 [UniParc].

Checksum: D51DAB16AA4142A8
Show »

FASTA788,458
Isoform 3 [UniParc].

Checksum: 067A11DF7E19FF70
Show »

FASTA42646,619
Isoform 4 [UniParc].

Checksum: 0EEA53DEA5449FD4
Show »

FASTA39243,378
Isoform 5 [UniParc].

Checksum: D8BD41951D5D8F71
Show »

FASTA47551,691
Isoform 6 [UniParc].

Checksum: 01FBF7179429E6AD
Show »

FASTA51456,281

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3185.2. [Q9H3U5-6]
CCDS54666.1. [Q9H3U5-5]
RefSeqNP_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]
UniGeneHs.58663.

3D structure databases

ProteinModelPortalQ9H3U5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122263. 1 interaction.
MINTMINT-4723047.

PTM databases

PhosphoSiteQ9H3U5.

Polymorphism databases

DMDM124015158.

Proteomic databases

MaxQBQ9H3U5.
PaxDbQ9H3U5.
PRIDEQ9H3U5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264266; ENSP00000264266; ENSG00000118855. [Q9H3U5-1]
ENST00000392813; ENSP00000376560; ENSG00000118855. [Q9H3U5-5]
ENST00000415822; ENSP00000403117; ENSG00000118855. [Q9H3U5-6]
ENST00000480292; ENSP00000419467; ENSG00000118855. [Q9H3U5-2]
ENST00000484166; ENSP00000417950; ENSG00000118855. [Q9H3U5-2]
GeneID64747.
KEGGhsa:64747.

Organism-specific databases

CTD64747.
GeneCardsGC03P158449.
HGNCHGNC:25874. MFSD1.
neXtProtNX_Q9H3U5.
PharmGKBPA134947356.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0477.
HOVERGENHBG081969.
InParanoidQ9H3U5.
OMAIKFSHTE.
PhylomeDBQ9H3U5.
TreeFamTF323603.

Gene expression databases

ArrayExpressQ9H3U5.
BgeeQ9H3U5.
CleanExHS_MFSD1.
GenevestigatorQ9H3U5.

Family and domain databases

InterProIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PfamPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMSSF103473. SSF103473. 1 hit.
PROSITEPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi64747.
NextBio35535368.
PROQ9H3U5.

Entry information

Entry nameMFSD1_HUMAN
AccessionPrimary (citable) accession number: Q9H3U5
Secondary accession number(s): B4DGJ8 expand/collapse secondary AC list , B4DMR8, B4DU49, B4DWU1, C9JS94, J3KQL7, Q05C07, Q5XKJ1, Q8IVS1, Q8IXG4, Q9H7X1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM