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Gene id 84179
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol SLC49A3   Gene   UCSC   Ensembl
Aliases LP2561, MFSD7
Gene name solute carrier family 49 member 3
Alternate names solute carrier family 49 member A3, MYL5, major facilitator superfamily domain containing 7, major facilitator superfamily domain-containing protein 7, myosin light polypeptide 5 regulatory protein,
Gene location 4p16.3 (690747: 676204)     Exons: 13     NC_000004.12

Protein Summary

Protein general information Q6UXD7  

Name: Solute carrier family 49 member A3 (Major facilitator superfamily domain containing protein 7) (Myosin light polypeptide 5 regulatory protein) (MYL5)

Length: 560  Mass: 58427

Sequence MAGPTEAETGLAEPRALCAQRGHRTYARRWVFLLAISLLNCSNATLWLSFAPVADVIAEDLVLSMEQINWLSLVY
LVVSTPFGVAAIWILDSVGLRAATILGAWLNFAGSVLRMVPCMVVGTQNPFAFLMGGQSLCALAQSLVIFSPAKL
AALWFPEHQRATANMLATMSNPLGVLVANVLSPVLVKKGEDIPLMLGVYTIPAGVVCLLSTICLWESVPPTPPSA
GAASSTSEKFLDGLKLQLMWNKAYVILAVCLGGMIGISASFSALLEQILCASGHSSGFSGLCGALFITFGILGAL
ALGPYVDRTKHFTEATKIGLCLFSLACVPFALVSQLQGQTLALAATCSLLGLFGFSVGPVAMELAVECSFPVGEG
AATGMIFVLGQAEGILIMLAMTALTVRRSEPSLSTCQQGEDPLDWTVSLLLMAGLCTFFSCILAVFFHTPYRRLQ
AESGEPPSTRNAVGGADSGPGVDRGGAGRAGVLGPSTATPECTARGASLEDPRGPGSPHPACHRATPRAQGPAAT
DAPSRPGRLAGRVQASRFIDPAGSHSSFSSPWVIT
Structural information
Interpro:  IPR011701  IPR036259  
STRING:   ENSP00000384616
Other Databases GeneCards:  SLC49A3  Malacards:  SLC49A3

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0022857 transmembrane transporter
activity
IEA molecular function
GO:0055085 transmembrane transport
IEA biological process
GO:0016021 integral component of mem
brane
IEA cellular component
GO:0016020 membrane
IEA cellular component
GO:0016020 membrane
IEA cellular component
Associated diseases References
Cryptorchidism MIK: 28606200
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 25753583

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
31037746 Spermatoge
nic defect
s

16 (1 control,
15 cases)
Male infertility GSE6023 analyzed using GEO2R
Show abstract
25753583 Unexplaine
d infertil
ity

46 (17 fertile
men, 29 male pa
tients)
Male infertility Microarray
Show abstract