Q9H3U5 (MFSD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

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	465 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	transmembrane transport Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 4 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 465	465	Major facilitator superfamily domain-containing protein 1		PRO_0000273382
Regions
	Transmembrane	39 – 59	21	Helical; Potential
	Transmembrane	83 – 103	21	Helical; Potential
	Transmembrane	113 – 133	21	Helical; Potential
	Transmembrane	135 – 155	21	Helical; Potential
	Transmembrane	213 – 233	21	Helical; Potential
	Transmembrane	266 – 286	21	Helical; Potential
	Transmembrane	303 – 323	21	Helical; Potential
	Transmembrane	331 – 351	21	Helical; Potential
	Transmembrane	361 – 381	21	Helical; Potential
	Transmembrane	392 – 412	21	Helical; Potential
	Transmembrane	418 – 438	21	Helical; Potential
Natural variations
	Alternative sequence	1 – 73	73	Missing in isoform 4.		VSP_037578
	Alternative sequence	55 – 110	56	GSYFC…VFGIR → AIFAMIILLPFRLKLDE in isoform 3.		VSP_037579
	Alternative sequence	73 – 78	6	DMQVNT → MGHNHF in isoform 2.		VSP_022537
	Alternative sequence	79 – 465	387	Missing in isoform 2.		VSP_022538
	Natural variant	24	1	P → S. Ref.3 Corresponds to variant rs28364680 [ dbSNP | Ensembl ].		VAR_030138
	Natural variant	168	1	K → E. Ref.4 Corresponds to variant rs17854200 [ dbSNP | Ensembl ].		VAR_030139
	Natural variant	220	1	I → V. Ref.3 Ref.4 Corresponds to variant rs3765083 [ dbSNP | Ensembl ].		VAR_030140
	Natural variant	271	1	I → T. Corresponds to variant rs11551240 [ dbSNP | Ensembl ].		VAR_059466
Experimental info
	Sequence conflict	275	1	C → R in BAB20269. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 24D53BDE6D1CCA26	FASTA	465	51,209
	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
	Isoform 2 [UniParc]. Checksum: D51DAB16AA4142A8	FASTA	78	8,458
	10 20 30 40 50 60 MEEEDEEARA LLAGGPDEAD RGAPAAPGAL PALCDPSRLA HRLLVLLLMC FLGFGSYFCY 70 DNPAALQTQV KRMGHNHF
	Isoform 3 [UniParc]. Checksum: 067A11DF7E19FF70	FASTA	426	46,619
	10 20 30 40 50 60 MEEEDEEARA LLAGGPDEAD RGAPAAPGAL PALCDPSRLA HRLLVLLLMC FLGFAIFAMI 70 80 90 100 110 120 ILLPFRLKLD EWGTIIFSCF VCIGQVVFAL GGIFNAFWLM EFGRFVFGIG GESLAVAQNT 130 140 150 160 170 180 YAVSWFKGKE LNLVFGLQLS MARIGSTVNM NLMGWLYSKI EALLGSAGHT TLGITLMIGG 190 200 210 220 230 240 ITCILSLICA LALAYLDQRA ERILHKEQGK TGEVIKLTDV KDFSLPLWLI FIICVCYYVA 250 260 270 280 290 300 VFPFIGLGKV FFTEKFGFSS QAASAINSVV YVISAPMSPV FGLLVDKTGK NIIWVLCAVA 310 320 330 340 350 360 ATLVSHMMLA FTMWNPWIAM CLLGLSYSLL ACALWPMVAF VVPEHQLGTA YGFMQSIQNL 370 380 390 400 410 420 GLAIISIIAG MILDSRGYLF LEVFFIACVS LSLLSVVLLY LVNRAQGGNL NYSARQREEI KFSHTE
	Isoform 4 [UniParc]. Checksum: 0EEA53DEA5449FD4	FASTA	392	43,378
	10 20 30 40 50 60 MQVNTTKFML LYAWYSWPNV VLCFFGGFLI DRVFGIRWGT IIFSCFVCIG QVVFALGGIF 70 80 90 100 110 120 NAFWLMEFGR FVFGIGGESL AVAQNTYAVS WFKGKELNLV FGLQLSMARI GSTVNMNLMG 130 140 150 160 170 180 WLYSKIEALL GSAGHTTLGI TLMIGGITCI LSLICALALA YLDQRAERIL HKEQGKTGEV 190 200 210 220 230 240 IKLTDVKDFS LPLWLIFIIC VCYYVAVFPF IGLGKVFFTE KFGFSSQAAS AINSVVYVIS 250 260 270 280 290 300 APMSPVFGLL VDKTGKNIIW VLCAVAATLV SHMMLAFTMW NPWIAMCLLG LSYSLLACAL 310 320 330 340 350 360 WPMVAFVVPE HQLGTAYGFM QSIQNLGLAI ISIIAGMILD SRGYLFLEVF FIACVSLSLL 370 380 390 SVVLLYLVNR AQGGNLNYSA RQREEIKFSH TE

References

	« Hide 'large scale' referencesShow '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. , 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. BC030542 mRNA. Translation: AAH30542.1. Sequence problems. BC042197 mRNA. Translation: AAH42197.1.
IPI	IPI00747136. IPI00797353. IPI00937543. IPI00942906.
RefSeq	NP_001161375.1. NM_001167903.1. NP_073573.2. NM_022736.2.
UniGene	Hs.58663.
3D structure databases
ProteinModelPortal	Q9H3U5.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-4723047.
PTM databases
PhosphoSite	Q9H3U5.
Polymorphism databases
DMDM	124015158.
Proteomic databases
PaxDb	Q9H3U5.
PRIDE	Q9H3U5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264266; ENSP00000264266; ENSG00000118855.
GeneID	64747.
KEGG	hsa:64747.
UCSC	uc003fcl.2. human.
Organism-specific databases
CTD	64747.
GeneCards	GC03P158449.
HGNC	HGNC:25874. MFSD1.
neXtProt	NX_Q9H3U5.
PharmGKB	PA134947356.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0477.
HOVERGEN	HBG081969.
InParanoid	Q9H3U5.
PhylomeDB	Q9H3U5.
Gene expression databases
ArrayExpress	Q9H3U5.
Bgee	Q9H3U5.
CleanEx	HS_MFSD1.
Genevestigator	Q9H3U5.
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	64747.
NextBio	66701.

Entry information

Entry name

MFSD1_HUMAN

Accession

Primary (citable) accession number: Q9H3U5
Secondary accession number(s): B4DGJ8 , B4DMR8, B4DU49, B4DWU1, Q05C07, Q5XKJ1, Q8IVS1, Q8IXG4, Q9H7X1

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2007
Last sequence update:	January 23, 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.