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Q6UXD7

- MFSD7_HUMAN

UniProt

Q6UXD7 - MFSD7_HUMAN

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Protein
Major facilitator superfamily domain-containing protein 7
Gene
MFSD7, LP2561, UNQ385/PRO717
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 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 7
Alternative name(s):
Myosin light polypeptide 5 regulatory protein
Short name:
MYL5
Gene namesi
Name:MFSD7
ORF Names:LP2561, UNQ385/PRO717
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:26177. MFSD7.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei30 – 5021Helical; Reviewed prediction
Add
BLAST
Transmembranei70 – 9021Helical; Reviewed prediction
Add
BLAST
Transmembranei100 – 12021Helical; Reviewed prediction
Add
BLAST
Transmembranei125 – 14521Helical; Reviewed prediction
Add
BLAST
Transmembranei166 – 18621Helical; Reviewed prediction
Add
BLAST
Transmembranei192 – 21221Helical; Reviewed prediction
Add
BLAST
Transmembranei250 – 27021Helical; Reviewed prediction
Add
BLAST
Transmembranei282 – 30221Helical; Reviewed prediction
Add
BLAST
Transmembranei318 – 33821Helical; Reviewed prediction
Add
BLAST
Transmembranei341 – 36121Helical; Reviewed prediction
Add
BLAST
Transmembranei379 – 39921Helical; Reviewed prediction
Add
BLAST
Transmembranei422 – 44221Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485534.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 560560Major facilitator superfamily domain-containing protein 7
PRO_0000273408Add
BLAST

Proteomic databases

PaxDbiQ6UXD7.
PRIDEiQ6UXD7.

Expressioni

Gene expression databases

ArrayExpressiQ6UXD7.
BgeeiQ6UXD7.
CleanExiHS_MFSD7.
GenevestigatoriQ6UXD7.

Organism-specific databases

HPAiHPA043593.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000320234.

Structurei

3D structure databases

ProteinModelPortaliQ6UXD7.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG297699.
HOGENOMiHOG000251610.
HOVERGENiHBG079844.
InParanoidiQ6UXD7.
KOiK12306.
OMAiEQILCAS.
OrthoDBiEOG7JQBND.
PhylomeDBiQ6UXD7.
TreeFamiTF314292.

Family and domain databases

InterProiIPR011701. MFS.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6UXD7-1) [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

MAGPTEAETG LAEPRALCAQ RGHRTYARRW VFLLAISLLN CSNATLWLSF    50
APVADVIAED LVLSMEQINW LSLVYLVVST PFGVAAIWIL DSVGLRAATI 100
LGAWLNFAGS VLRMVPCMVV GTQNPFAFLM GGQSLCALAQ SLVIFSPAKL 150
AALWFPEHQR ATANMLATMS NPLGVLVANV LSPVLVKKGE DIPLMLGVYT 200
IPAGVVCLLS TICLWESVPP TPPSAGAASS TSEKFLDGLK LQLMWNKAYV 250
ILAVCLGGMI GISASFSALL EQILCASGHS SGFSGLCGAL FITFGILGAL 300
ALGPYVDRTK HFTEATKIGL CLFSLACVPF ALVSQLQGQT LALAATCSLL 350
GLFGFSVGPV AMELAVECSF PVGEGAATGM IFVLGQAEGI LIMLAMTALT 400
VRRSEPSLST CQQGEDPLDW TVSLLLMAGL CTFFSCILAV FFHTPYRRLQ 450
AESGEPPSTR NAVGGADSGP GVDRGGAGRA GVLGPSTATP ECTARGASLE 500
DPRGPGSPHP ACHRATPRAQ GPAATDAPSR PGRLAGRVQA SRFIDPAGSH 550
SSFSSPWVIT 560
Length:560
Mass (Da):58,427
Last modified:July 5, 2004 - v1
Checksum:i41848AAEB46601A4
GO
Isoform 2 (identifier: Q6UXD7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     242-242: Missing.

Show »
Length:559
Mass (Da):58,299
Checksum:iB4F93FD1722B4CA2
GO
Isoform 3 (identifier: Q6UXD7-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     46-67: Missing.
     99-195: Missing.

Note: No experimental confirmation available.

Show »
Length:441
Mass (Da):45,719
Checksum:iCB8FA4AE3EDDE78D
GO

Sequence cautioni

The sequence AAP34459.1 differs from that shown. Reason: Intron retention.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti170 – 1701S → P.
Corresponds to variant rs11558585 [ dbSNP | Ensembl ].
VAR_030144

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei46 – 6722Missing in isoform 3.
VSP_022547Add
BLAST
Alternative sequencei99 – 19597Missing in isoform 3.
VSP_022548Add
BLAST
Alternative sequencei242 – 2421Missing in isoform 2.
VSP_022549

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti241 – 2411L → P in BAB15283. 1 Publication
Sequence conflicti406 – 4061P → L in BAB15283. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS3338.1. [Q6UXD7-2]
RefSeqiNP_115595.2. NM_032219.2. [Q6UXD7-2]
XP_005272352.1. XM_005272295.1. [Q6UXD7-1]
UniGeneiHs.567612.

Genome annotation databases

EnsembliENST00000322224; ENSP00000320234; ENSG00000169026. [Q6UXD7-2]
ENST00000347950; ENSP00000307545; ENSG00000169026. [Q6UXD7-3]
ENST00000404286; ENSP00000384616; ENSG00000169026. [Q6UXD7-1]
GeneIDi84179.
KEGGihsa:84179.
UCSCiuc003gaw.3. human. [Q6UXD7-1]
uc003gax.3. human. [Q6UXD7-2]
uc003gaz.3. human. [Q6UXD7-3]

Polymorphism databases

DMDMi74738207.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS3338.1. [Q6UXD7-2 ]
RefSeqi NP_115595.2. NM_032219.2. [Q6UXD7-2 ]
XP_005272352.1. XM_005272295.1. [Q6UXD7-1 ]
UniGenei Hs.567612.

3D structure databases

ProteinModelPortali Q6UXD7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000320234.

Polymorphism databases

DMDMi 74738207.

Proteomic databases

PaxDbi Q6UXD7.
PRIDEi Q6UXD7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000322224 ; ENSP00000320234 ; ENSG00000169026 . [Q6UXD7-2 ]
ENST00000347950 ; ENSP00000307545 ; ENSG00000169026 . [Q6UXD7-3 ]
ENST00000404286 ; ENSP00000384616 ; ENSG00000169026 . [Q6UXD7-1 ]
GeneIDi 84179.
KEGGi hsa:84179.
UCSCi uc003gaw.3. human. [Q6UXD7-1 ]
uc003gax.3. human. [Q6UXD7-2 ]
uc003gaz.3. human. [Q6UXD7-3 ]

Organism-specific databases

CTDi 84179.
GeneCardsi GC04M000675.
HGNCi HGNC:26177. MFSD7.
HPAi HPA043593.
neXtProti NX_Q6UXD7.
PharmGKBi PA143485534.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG297699.
HOGENOMi HOG000251610.
HOVERGENi HBG079844.
InParanoidi Q6UXD7.
KOi K12306.
OMAi EQILCAS.
OrthoDBi EOG7JQBND.
PhylomeDBi Q6UXD7.
TreeFami TF314292.

Miscellaneous databases

GenomeRNAii 84179.
NextBioi 73553.
PROi Q6UXD7.

Gene expression databases

ArrayExpressi Q6UXD7.
Bgeei Q6UXD7.
CleanExi HS_MFSD7.
Genevestigatori Q6UXD7.

Family and domain databases

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

Publicationsi

  1. 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.
    , 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.
    , 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).

Entry informationi

Entry nameiMFSD7_HUMAN
AccessioniPrimary (citable) accession number: Q6UXD7
Secondary accession number(s): A8K7J5
, Q6XYD4, Q8N6H1, Q9H6H6
Entry historyi
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 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 4
    Human chromosome 4: 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

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