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Protein

Major facilitator superfamily domain-containing protein 4A

Gene

MFSD4A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 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 4A
Alternative name(s):
Major facilitator superfamily domain-containing protein 4
Gene namesi
Name:MFSD4AImported
Synonyms:MFSD4
ORF Names:UNQ3064/PRO9894
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:25433. MFSD4A.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei19 – 3921HelicalSequence analysisAdd
BLAST
Transmembranei53 – 7321HelicalSequence analysisAdd
BLAST
Transmembranei82 – 10221HelicalSequence analysisAdd
BLAST
Transmembranei107 – 12721HelicalSequence analysisAdd
BLAST
Transmembranei139 – 15921HelicalSequence analysisAdd
BLAST
Transmembranei221 – 24121HelicalSequence analysisAdd
BLAST
Transmembranei307 – 32721HelicalSequence analysisAdd
BLAST
Transmembranei347 – 36721HelicalSequence analysisAdd
BLAST
Transmembranei376 – 39621HelicalSequence analysisAdd
BLAST
Transmembranei400 – 42021HelicalSequence analysisAdd
BLAST
Transmembranei438 – 45821HelicalSequence analysisAdd
BLAST
Transmembranei466 – 48621HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671465.

Polymorphism and mutation databases

BioMutaiMFSD4.
DMDMi124015159.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 514514Major facilitator superfamily domain-containing protein 4APRO_0000273395Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi177 – 1771N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8N468.
PRIDEiQ8N468.

PTM databases

PhosphoSiteiQ8N468.

Expressioni

Gene expression databases

BgeeiQ8N468.
CleanExiHS_MFSD4.
ExpressionAtlasiQ8N468. baseline and differential.
GenevisibleiQ8N468. HS.

Interactioni

Protein-protein interaction databases

BioGridi127170. 12 interactions.
MINTiMINT-4726584.
STRINGi9606.ENSP00000356115.

Structurei

3D structure databases

ProteinModelPortaliQ8N468.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II1V. Eukaryota.
ENOG410XTFT. LUCA.
GeneTreeiENSGT00530000063320.
HOGENOMiHOG000113573.
HOVERGENiHBG063627.
InParanoidiQ8N468.
OMAiPMAVLFL.
OrthoDBiEOG7GJ6F1.
PhylomeDBiQ8N468.
TreeFamiTF314613.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 3 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N468-1) [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
MGCDGRVSGL LRRNLQPTLT YWSVFFSFGL CIAFLGPTLL DLRCQTHSSL
60 70 80 90 100
PQISWVFFSQ QLCLLLGSAL GGVFKRTLAQ SLWALFTSSL AISLVFAVIP
110 120 130 140 150
FCRDVKVLAS VMALAGLAMG CIDTVANMQL VRMYQKDSAV FLQVLHFFVG
160 170 180 190 200
FGALLSPLIA DPFLSEANCL PANSTANTTS RGHLFHVSRV LGQHHVDAKP
210 220 230 240 250
WSNQTFPGLT PKDGAGTRVS YAFWIMALIN LPVPMAVLML LSKERLLTCC
260 270 280 290 300
PQRRPLLLSA DELALETQPP EKEDASSLPP KFQSHLGHED LFSCCQRKNL
310 320 330 340 350
RGAPYSFFAI HITGALVLFM TDGLTGAYSA FVYSYAVEKP LSVGHKVAGY
360 370 380 390 400
LPSLFWGFIT LGRLLSIPIS SRMKPATMVF INVVGVVVTF LVLLIFSYNV
410 420 430 440 450
VFLFVGTASL GLFLSSTFPS MLAYTEDSLQ YKGCATTVLV TGAGVGEMVL
460 470 480 490 500
QMLVGSIFQA QGSYSFLVCG VIFGCLAFTF YILLLFFHRM HPGLPSVPTQ
510
DRSIGMENSE CYQR
Length:514
Mass (Da):56,265
Last modified:January 23, 2007 - v3
Checksum:iEFA78C910944CF86
GO
Isoform 2 (identifier: Q8N468-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     144-230: Missing.

Note: No experimental confirmation available.
Show »
Length:427
Mass (Da):46,849
Checksum:i12AA8854E9C83467
GO

Sequence cautioni

The sequence AAQ88474.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti230 – 2301N → D in BAC03767 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti228 – 2281L → I.1 Publication
Corresponds to variant rs17857119 [ dbSNP | Ensembl ].
VAR_030142
Natural varianti314 – 3141G → A.2 Publications
Corresponds to variant rs7526132 [ dbSNP | Ensembl ].
VAR_030143

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei144 – 23087Missing in isoform 2. 1 PublicationVSP_057053Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091896 mRNA. Translation: BAC03767.1.
AK304120 mRNA. Translation: BAH14109.1.
AC096533 Genomic DNA. No translation available.
BC036549 mRNA. Translation: AAH36549.2.
AY358107 mRNA. Translation: AAQ88474.1. Different initiation.
AL713676 mRNA. Translation: CAD28481.1.
CCDSiCCDS1455.1. [Q8N468-1]
RefSeqiNP_857595.3. NM_181644.4. [Q8N468-1]
XP_011507531.1. XM_011509229.1. [Q8N468-2]
UniGeneiHs.567714.

Genome annotation databases

EnsembliENST00000367147; ENSP00000356115; ENSG00000174514. [Q8N468-1]
GeneIDi148808.
KEGGihsa:148808.
UCSCiuc001hcv.5. human. [Q8N468-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091896 mRNA. Translation: BAC03767.1.
AK304120 mRNA. Translation: BAH14109.1.
AC096533 Genomic DNA. No translation available.
BC036549 mRNA. Translation: AAH36549.2.
AY358107 mRNA. Translation: AAQ88474.1. Different initiation.
AL713676 mRNA. Translation: CAD28481.1.
CCDSiCCDS1455.1. [Q8N468-1]
RefSeqiNP_857595.3. NM_181644.4. [Q8N468-1]
XP_011507531.1. XM_011509229.1. [Q8N468-2]
UniGeneiHs.567714.

3D structure databases

ProteinModelPortaliQ8N468.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127170. 12 interactions.
MINTiMINT-4726584.
STRINGi9606.ENSP00000356115.

PTM databases

PhosphoSiteiQ8N468.

Polymorphism and mutation databases

BioMutaiMFSD4.
DMDMi124015159.

Proteomic databases

PaxDbiQ8N468.
PRIDEiQ8N468.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367147; ENSP00000356115; ENSG00000174514. [Q8N468-1]
GeneIDi148808.
KEGGihsa:148808.
UCSCiuc001hcv.5. human. [Q8N468-1]

Organism-specific databases

CTDi148808.
GeneCardsiMFSD4.
H-InvDBHIX0001516.
HGNCiHGNC:25433. MFSD4A.
neXtProtiNX_Q8N468.
PharmGKBiPA142671465.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II1V. Eukaryota.
ENOG410XTFT. LUCA.
GeneTreeiENSGT00530000063320.
HOGENOMiHOG000113573.
HOVERGENiHBG063627.
InParanoidiQ8N468.
OMAiPMAVLFL.
OrthoDBiEOG7GJ6F1.
PhylomeDBiQ8N468.
TreeFamiTF314613.

Miscellaneous databases

ChiTaRSiMFSD4. human.
GenomeRNAii148808.
NextBioi35480594.
PROiQ8N468.

Gene expression databases

BgeeiQ8N468.
CleanExiHS_MFSD4.
ExpressionAtlasiQ8N468. baseline and differential.
GenevisibleiQ8N468. HS.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 3 hits.
ProtoNetiSearch...

Publicationsi

  1. "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 1 AND 2).
    Tissue: Kidney and Trachea.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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 1), VARIANTS ILE-228 AND ALA-314.
    Tissue: Brain.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 177-514 (ISOFORM 1), VARIANT ALA-314.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 204-514 (ISOFORM 1).
    Tissue: Amygdala.

Entry informationi

Entry nameiMFD4A_HUMAN
AccessioniPrimary (citable) accession number: Q8N468
Secondary accession number(s): B7Z8X3
, Q6UY25, Q8NAY0, Q8TCP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 23, 2007
Last modified: March 16, 2016
This is version 93 of the entry and version 3 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 1
    Human chromosome 1: 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.