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Protein

Major facilitator superfamily domain-containing protein 7

Gene

MFSD7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:26177. MFSD7.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei30 – 50HelicalSequence analysisAdd BLAST21
Transmembranei70 – 90HelicalSequence analysisAdd BLAST21
Transmembranei100 – 120HelicalSequence analysisAdd BLAST21
Transmembranei125 – 145HelicalSequence analysisAdd BLAST21
Transmembranei166 – 186HelicalSequence analysisAdd BLAST21
Transmembranei192 – 212HelicalSequence analysisAdd BLAST21
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21
Transmembranei282 – 302HelicalSequence analysisAdd BLAST21
Transmembranei318 – 338HelicalSequence analysisAdd BLAST21
Transmembranei341 – 361HelicalSequence analysisAdd BLAST21
Transmembranei379 – 399HelicalSequence analysisAdd BLAST21
Transmembranei422 – 442HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000169026.
PharmGKBiPA143485534.

Polymorphism and mutation databases

BioMutaiMFSD7.
DMDMi74738207.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002734081 – 560Major facilitator superfamily domain-containing protein 7Add BLAST560

Proteomic databases

PaxDbiQ6UXD7.
PeptideAtlasiQ6UXD7.
PRIDEiQ6UXD7.

PTM databases

iPTMnetiQ6UXD7.
PhosphoSitePlusiQ6UXD7.

Expressioni

Gene expression databases

BgeeiENSG00000169026.
CleanExiHS_MFSD7.
ExpressionAtlasiQ6UXD7. baseline and differential.
GenevisibleiQ6UXD7. HS.

Organism-specific databases

HPAiHPA043593.

Interactioni

Protein-protein interaction databases

BioGridi123930. 1 interactor.
STRINGi9606.ENSP00000320234.

Structurei

3D structure databases

ProteinModelPortaliQ6UXD7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2563. Eukaryota.
ENOG410XSTK. LUCA.
GeneTreeiENSGT00530000062892.
HOGENOMiHOG000251610.
HOVERGENiHBG079844.
InParanoidiQ6UXD7.
KOiK12306.
OMAiQILCASG.
OrthoDBiEOG091G0837.
PhylomeDBiQ6UXD7.
TreeFamiTF314292.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[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. AlignAdd to basket

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

        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 differs from that shown. Intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti241L → P in BAB15283 (PubMed:14702039).Curated1
Sequence conflicti406P → L in BAB15283 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030144170S → P.Corresponds to variant rs11558585dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02254746 – 67Missing in isoform 3. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_02254899 – 195Missing in isoform 3. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_022549242Missing in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS77883.1. [Q6UXD7-3]
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.
UCSCiuc003gax.4. human. [Q6UXD7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS77883.1. [Q6UXD7-3]
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.

3D structure databases

ProteinModelPortaliQ6UXD7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123930. 1 interactor.
STRINGi9606.ENSP00000320234.

PTM databases

iPTMnetiQ6UXD7.
PhosphoSitePlusiQ6UXD7.

Polymorphism and mutation databases

BioMutaiMFSD7.
DMDMi74738207.

Proteomic databases

PaxDbiQ6UXD7.
PeptideAtlasiQ6UXD7.
PRIDEiQ6UXD7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322224; ENSP00000320234; ENSG00000169026. [Q6UXD7-2]
ENST00000347950; ENSP00000307545; ENSG00000169026. [Q6UXD7-3]
ENST00000404286; ENSP00000384616; ENSG00000169026. [Q6UXD7-1]
GeneIDi84179.
KEGGihsa:84179.
UCSCiuc003gax.4. human. [Q6UXD7-1]

Organism-specific databases

CTDi84179.
GeneCardsiMFSD7.
HGNCiHGNC:26177. MFSD7.
HPAiHPA043593.
neXtProtiNX_Q6UXD7.
OpenTargetsiENSG00000169026.
PharmGKBiPA143485534.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2563. Eukaryota.
ENOG410XSTK. LUCA.
GeneTreeiENSGT00530000062892.
HOGENOMiHOG000251610.
HOVERGENiHBG079844.
InParanoidiQ6UXD7.
KOiK12306.
OMAiQILCASG.
OrthoDBiEOG091G0837.
PhylomeDBiQ6UXD7.
TreeFamiTF314292.

Miscellaneous databases

GenomeRNAii84179.
PROiQ6UXD7.

Gene expression databases

BgeeiENSG00000169026.
CleanExiHS_MFSD7.
ExpressionAtlasiQ6UXD7. baseline and differential.
GenevisibleiQ6UXD7. HS.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
ProtoNetiSearch...

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: November 2, 2016
This is version 93 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.