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Protein

Solute carrier family 49 member A3

Gene

SLC49A3

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

Functioni

GO - Biological processi

Keywordsi

Biological processTransport

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 49 member A3Imported
Alternative name(s):
Major facilitator superfamily domain-containing protein 7
Myosin light polypeptide 5 regulatory protein
Short name:
MYL5
Gene namesi
Name:SLC49A3Imported
Synonyms:MFSD7
ORF Names:LP2561, UNQ385/PRO717
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000169026.12
HGNCiHGNC:26177 SLC49A3
neXtProtiNX_Q6UXD7

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

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 – 560Solute carrier family 49 member A3Add BLAST560

Proteomic databases

PaxDbiQ6UXD7
PeptideAtlasiQ6UXD7
PRIDEiQ6UXD7
ProteomicsDBi67596
67597 [Q6UXD7-2]
67598 [Q6UXD7-3]

PTM databases

iPTMnetiQ6UXD7
PhosphoSitePlusiQ6UXD7

Expressioni

Gene expression databases

BgeeiENSG00000169026 Expressed in 96 organ(s), highest expression level in left testis
CleanExiHS_MFSD7
ExpressionAtlasiQ6UXD7 baseline and differential
GenevisibleiQ6UXD7 HS

Organism-specific databases

HPAiHPA043593

Interactioni

Protein-protein interaction databases

BioGridi123930, 1 interactor
IntActiQ6UXD7, 1 interactor

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
OMAiYVILAVC
OrthoDBiEOG091G0837
PhylomeDBiQ6UXD7
TreeFamiTF314292

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RIZ6D6RIZ6_HUMAN
Solute carrier family 49 member A3
SLC49A3
420Annotation score:
D6RB07D6RB07_HUMAN
Solute carrier family 49 member A3
SLC49A3
217Annotation score:
D6R9R0D6R9R0_HUMAN
Solute carrier family 49 member A3
SLC49A3
463Annotation score:
D6RED0D6RED0_HUMAN
Solute carrier family 49 member A3
SLC49A3
199Annotation score:

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 dbSNP:rs11558585Ensembl.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

Similar proteinsi

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
IntActiQ6UXD7, 1 interactor

PTM databases

iPTMnetiQ6UXD7
PhosphoSitePlusiQ6UXD7

Polymorphism and mutation databases

BioMutaiMFSD7
DMDMi74738207

Proteomic databases

PaxDbiQ6UXD7
PeptideAtlasiQ6UXD7
PRIDEiQ6UXD7
ProteomicsDBi67596
67597 [Q6UXD7-2]
67598 [Q6UXD7-3]

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
EuPathDBiHostDB:ENSG00000169026.12
GeneCardsiSLC49A3
HGNCiHGNC:26177 SLC49A3
HPAiHPA043593
neXtProtiNX_Q6UXD7
OpenTargetsiENSG00000169026
PharmGKBiPA143485534
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii84179
PROiPR:Q6UXD7

Gene expression databases

BgeeiENSG00000169026 Expressed in 96 organ(s), highest expression level in left testis
CleanExiHS_MFSD7
ExpressionAtlasiQ6UXD7 baseline and differential
GenevisibleiQ6UXD7 HS

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiS49A3_HUMAN
AccessioniPrimary (citable) accession number: Q6UXD7
Secondary accession number(s): A8K7J5
, Q6XYD4, Q8N6H1, Q9H6H6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: July 5, 2004
Last modified: September 12, 2018
This is version 104 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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