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Q6UXD7 (MFSD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 76. 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 7
Alternative name(s):
Myosin light polypeptide 5 regulatory protein
Short name=MYL5
Gene names
Name:MFSD7
ORF Names:LP2561, UNQ385/PRO717
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length560 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 AAP34459.1 differs from that shown. Reason: Intron retention.

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 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6UXD7-1)

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: Q6UXD7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     242-242: Missing.
Isoform 3 (identifier: Q6UXD7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     46-67: Missing.
     99-195: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 560560Major facilitator superfamily domain-containing protein 7
PRO_0000273408

Regions

Transmembrane30 – 5021Helical; Potential
Transmembrane70 – 9021Helical; Potential
Transmembrane100 – 12021Helical; Potential
Transmembrane125 – 14521Helical; Potential
Transmembrane166 – 18621Helical; Potential
Transmembrane192 – 21221Helical; Potential
Transmembrane250 – 27021Helical; Potential
Transmembrane282 – 30221Helical; Potential
Transmembrane318 – 33821Helical; Potential
Transmembrane341 – 36121Helical; Potential
Transmembrane379 – 39921Helical; Potential
Transmembrane422 – 44221Helical; Potential

Natural variations

Alternative sequence46 – 6722Missing in isoform 3.
VSP_022547
Alternative sequence99 – 19597Missing in isoform 3.
VSP_022548
Alternative sequence2421Missing in isoform 2.
VSP_022549
Natural variant1701S → P.
Corresponds to variant rs11558585 [ dbSNP | Ensembl ].
VAR_030144

Experimental info

Sequence conflict2411L → P in BAB15283. Ref.2
Sequence conflict4061P → L in BAB15283. Ref.2

Sequences

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

Last modified July 5, 2004. Version 1.
Checksum: 41848AAEB46601A4

FASTA56058,427
        10         20         30         40         50         60 
MAGPTEAETG LAEPRALCAQ RGHRTYARRW VFLLAISLLN CSNATLWLSF APVADVIAED 

        70         80         90        100        110        120 
LVLSMEQINW LSLVYLVVST PFGVAAIWIL DSVGLRAATI LGAWLNFAGS VLRMVPCMVV 

       130        140        150        160        170        180 
GTQNPFAFLM GGQSLCALAQ SLVIFSPAKL AALWFPEHQR ATANMLATMS NPLGVLVANV 

       190        200        210        220        230        240 
LSPVLVKKGE DIPLMLGVYT IPAGVVCLLS TICLWESVPP TPPSAGAASS TSEKFLDGLK 

       250        260        270        280        290        300 
LQLMWNKAYV ILAVCLGGMI GISASFSALL EQILCASGHS SGFSGLCGAL FITFGILGAL 

       310        320        330        340        350        360 
ALGPYVDRTK HFTEATKIGL CLFSLACVPF ALVSQLQGQT LALAATCSLL GLFGFSVGPV 

       370        380        390        400        410        420 
AMELAVECSF PVGEGAATGM IFVLGQAEGI LIMLAMTALT VRRSEPSLST CQQGEDPLDW 

       430        440        450        460        470        480 
TVSLLLMAGL CTFFSCILAV FFHTPYRRLQ AESGEPPSTR NAVGGADSGP GVDRGGAGRA 

       490        500        510        520        530        540 
GVLGPSTATP ECTARGASLE DPRGPGSPHP ACHRATPRAQ GPAATDAPSR PGRLAGRVQA 

       550        560 
SRFIDPAGSH SSFSSPWVIT 

« Hide

Isoform 2 [UniParc].

Checksum: B4F93FD1722B4CA2
Show »

FASTA55958,299
Isoform 3 [UniParc].

Checksum: CB8FA4AE3EDDE78D
Show »

FASTA44145,719

References

[1]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]"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 2 AND 3).
Tissue: Spleen.
[3]"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] (ISOFORM 2).
Tissue: Leukocyte.
[4]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 196-560 (ISOFORMS 1/3).

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY358401 mRNA. Translation: AAQ88767.1.
AK025922 mRNA. Translation: BAB15283.1.
AK292010 mRNA. Translation: BAF84699.1.
BC030246 mRNA. Translation: AAH30246.1.
AY203936 mRNA. Translation: AAP34459.1. Sequence problems.
CCDSCCDS3338.1. [Q6UXD7-2]
RefSeqNP_115595.2. NM_032219.2. [Q6UXD7-2]
XP_005272352.1. XM_005272295.1. [Q6UXD7-1]
UniGeneHs.567612.

3D structure databases

ProteinModelPortalQ6UXD7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000320234.

Polymorphism databases

DMDM74738207.

Proteomic databases

PaxDbQ6UXD7.
PRIDEQ6UXD7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000322224; ENSP00000320234; ENSG00000169026. [Q6UXD7-2]
ENST00000347950; ENSP00000307545; ENSG00000169026. [Q6UXD7-3]
ENST00000404286; ENSP00000384616; ENSG00000169026. [Q6UXD7-1]
GeneID84179.
KEGGhsa:84179.
UCSCuc003gaw.3. human. [Q6UXD7-1]
uc003gax.3. human. [Q6UXD7-2]
uc003gaz.3. human. [Q6UXD7-3]

Organism-specific databases

CTD84179.
GeneCardsGC04M000675.
HGNCHGNC:26177. MFSD7.
HPAHPA043593.
neXtProtNX_Q6UXD7.
PharmGKBPA143485534.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG297699.
HOGENOMHOG000251610.
HOVERGENHBG079844.
InParanoidQ6UXD7.
KOK12306.
OMAEQILCAS.
OrthoDBEOG7JQBND.
PhylomeDBQ6UXD7.
TreeFamTF314292.

Gene expression databases

ArrayExpressQ6UXD7.
BgeeQ6UXD7.
CleanExHS_MFSD7.
GenevestigatorQ6UXD7.

Family and domain databases

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

Other

GenomeRNAi84179.
NextBio73553.
PROQ6UXD7.

Entry information

Entry nameMFSD7_HUMAN
AccessionPrimary (citable) accession number: Q6UXD7
Secondary accession number(s): A8K7J5 expand/collapse secondary AC list , Q6XYD4, Q8N6H1, Q9H6H6
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 76 of the entry and version 1 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 4

Human chromosome 4: entries, gene names and cross-references to MIM