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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

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

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 7PRO_0000273408Add
BLAST

Proteomic databases

PaxDbiQ6UXD7.
PRIDEiQ6UXD7.

Expressioni

Gene expression databases

BgeeiQ6UXD7.
CleanExiHS_MFSD7.
ExpressionAtlasiQ6UXD7. baseline and differential.
GenevestigatoriQ6UXD7.

Organism-specific databases

HPAiHPA043593.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000320234.

Structurei

3D structure databases

ProteinModelPortaliQ6UXD7.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

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

Family & Domainsi

Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG297699.
GeneTreeiENSGT00530000062892.
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) [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
MAGPTEAETG LAEPRALCAQ RGHRTYARRW VFLLAISLLN CSNATLWLSF
60 70 80 90 100
APVADVIAED LVLSMEQINW LSLVYLVVST PFGVAAIWIL DSVGLRAATI
110 120 130 140 150
LGAWLNFAGS VLRMVPCMVV GTQNPFAFLM GGQSLCALAQ SLVIFSPAKL
160 170 180 190 200
AALWFPEHQR ATANMLATMS NPLGVLVANV LSPVLVKKGE DIPLMLGVYT
210 220 230 240 250
IPAGVVCLLS TICLWESVPP TPPSAGAASS TSEKFLDGLK LQLMWNKAYV
260 270 280 290 300
ILAVCLGGMI GISASFSALL EQILCASGHS SGFSGLCGAL FITFGILGAL
310 320 330 340 350
ALGPYVDRTK HFTEATKIGL CLFSLACVPF ALVSQLQGQT LALAATCSLL
360 370 380 390 400
GLFGFSVGPV AMELAVECSF PVGEGAATGM IFVLGQAEGI LIMLAMTALT
410 420 430 440 450
VRRSEPSLST CQQGEDPLDW TVSLLLMAGL CTFFSCILAV FFHTPYRRLQ
460 470 480 490 500
AESGEPPSTR NAVGGADSGP GVDRGGAGRA GVLGPSTATP ECTARGASLE
510 520 530 540 550
DPRGPGSPHP ACHRATPRAQ GPAATDAPSR PGRLAGRVQA SRFIDPAGSH
560
SSFSSPWVIT
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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti241 – 2411L → P in BAB15283. (PubMed:14702039)Curated
Sequence conflicti406 – 4061P → L in BAB15283. (PubMed:14702039)Curated

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. 1 PublicationVSP_022547Add
BLAST
Alternative sequencei99 – 19597Missing in isoform 3. 1 PublicationVSP_022548Add
BLAST
Alternative sequencei242 – 2421Missing in isoform 2. 2 PublicationsVSP_022549

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]
CCDS75086.1. [Q6UXD7-1]
RefSeqiNP_001281270.1. NM_001294341.1. [Q6UXD7-1]
NP_001281271.1. NM_001294342.1. [Q6UXD7-3]
NP_115595.2. NM_032219.3. [Q6UXD7-2]
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 ]
CCDS75086.1. [Q6UXD7-1 ]
RefSeqi NP_001281270.1. NM_001294341.1. [Q6UXD7-1 ]
NP_001281271.1. NM_001294342.1. [Q6UXD7-3 ]
NP_115595.2. NM_032219.3. [Q6UXD7-2 ]
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.
GeneTreei ENSGT00530000062892.
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

Bgeei Q6UXD7.
CleanExi HS_MFSD7.
ExpressionAtlasi Q6UXD7. baseline and differential.
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: October 29, 2014
This is version 78 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