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Q9NQ40

- S52A3_HUMAN

UniProt

Q9NQ40 - S52A3_HUMAN

Protein

Solute carrier family 52, riboflavin transporter, member 3

Gene

SLC52A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 4 (22 Nov 2005)
      Previous versions | rss
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    Functioni

    Riboflavin transporter. Riboflavin transport is Na+-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and to a lesser extent by amiloride.1 Publication

    Kineticsi

    1. KM=0.98 µM for riboflavin1 Publication

    GO - Molecular functioni

    1. riboflavin transporter activity Source: UniProtKB

    GO - Biological processi

    1. cellular response to heat Source: Ensembl
    2. riboflavin metabolic process Source: Reactome
    3. riboflavin transport Source: UniProtKB
    4. sensory perception of sound Source: UniProtKB
    5. small molecule metabolic process Source: Reactome
    6. vitamin metabolic process Source: Reactome
    7. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_11070. Vitamin B2 (riboflavin) metabolism.

    Protein family/group databases

    TCDBi9.A.53.1.2. the eukaryotic riboflavin transporter (e-rft) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 52, riboflavin transporter, member 3
    Alternative name(s):
    Riboflavin transporter 2
    Short name:
    hRFT2
    Gene namesi
    Name:SLC52A3
    Synonyms:C20orf54, RFT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:16187. SLC52A3.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of plasma membrane Source: UniProtKB
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]: A rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361E → K in BVVLS1. 1 Publication
    VAR_063694
    Natural varianti132 – 1321R → W in BVVLS1. 1 Publication
    VAR_063695
    Natural varianti224 – 2241F → L in BVVLS1. 1 Publication
    VAR_063696
    Natural varianti413 – 4131V → A in BVVLS1; may cause a mild form of the disease. 1 Publication
    VAR_063700
    Natural varianti457 – 4571F → L in BVVLS1. 1 Publication
    VAR_063701
    Fazio-Londe disease (FALOND) [MIM:211500]: A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    MIMi211500. phenotype.
    211530. phenotype.
    Orphaneti97229. Riboflavin transporter deficiency.
    PharmGKBiPA25764.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 469469Solute carrier family 52, riboflavin transporter, member 3PRO_0000042636Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi94 – 941N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi168 – 1681N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PRIDEiQ9NQ40.

    PTM databases

    PhosphoSiteiQ9NQ40.

    Expressioni

    Tissue specificityi

    Predominantly expressed in testis. Highly expressed in small intestine and prostate.1 Publication

    Gene expression databases

    ArrayExpressiQ9NQ40.
    BgeeiQ9NQ40.
    CleanExiHS_C20orf54.
    GenevestigatoriQ9NQ40.

    Organism-specific databases

    HPAiHPA049391.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000217254.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQ40.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei3 – 2321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei44 – 6421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei72 – 9221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei98 – 11821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei138 – 15821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei221 – 24121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei293 – 31321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei336 – 35621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei360 – 38021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei382 – 40221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei405 – 42521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei433 – 45321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the riboflavin transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG326568.
    HOGENOMiHOG000247012.
    HOVERGENiHBG051170.
    InParanoidiQ9NQ40.
    KOiK14620.
    OMAiWVLDGHH.
    OrthoDBiEOG7XDBFX.
    PhylomeDBiQ9NQ40.
    TreeFamiTF314820.

    Family and domain databases

    InterProiIPR009357. Endogenous_retrovirus_rcpt.
    [Graphical view]
    PANTHERiPTHR12929. PTHR12929. 1 hit.
    PfamiPF06237. DUF1011. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NQ40-1) [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

    MAFLMHLLVC VFGMGSWVTI NGLWVELPLL VMELPEGWYL PSYLTVVIQL    50
    ANIGPLLVTL LHHFRPSCLS EVPIIFTLLG VGTVTCIIFA FLWNMTSWVL 100
    DGHHSIAFLV LTFFLALVDC TSSVTFLPFM SRLPTYYLTT FFVGEGLSGL 150
    LPALVALAQG SGLTTCVNVT EISDSVPSPV PTRETDIAQG VPRALVSALP 200
    GMEAPLSHLE SRYLPAHFSP LVFFLLLSIM MACCLVAFFV LQRQPRCWEA 250
    SVEDLLNDQV TLHSIRPREE NDLGPAGTVD SSQGQGYLEE KAAPCCPAHL 300
    AFIYTLVAFV NALTNGMLPS VQTYSCLSYG PVAYHLAATL SIVANPLASL 350
    VSMFLPNRSL LFLGVLSVLG TCFGGYNMAM AVMSPCPLLQ GHWGGEVLIV 400
    ASWVLFSGCL SYVKVMLGVV LRDLSRSALL WCGAAVQLGS LLGALLMFPL 450
    VNVLRLFSSA DFCNLHCPA 469
    Length:469
    Mass (Da):50,805
    Last modified:November 22, 2005 - v4
    Checksum:i239ED67348C93739
    GO
    Isoform 2 (identifier: Q9NQ40-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         401-415: ASWVLFSGCLSYVKV → SIRPVGLLPLRTPHP
         416-469: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:415
    Mass (Da):45,043
    Checksum:i8E072208A8998A56
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti11 – 111V → D in BAF84395. (PubMed:14702039)Curated
    Sequence conflicti199 – 1991L → P in BAC11113. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361E → K in BVVLS1. 1 Publication
    VAR_063694
    Natural varianti74 – 741I → M.
    Corresponds to variant rs35655964 [ dbSNP | Ensembl ].
    VAR_053565
    Natural varianti132 – 1321R → W in BVVLS1. 1 Publication
    VAR_063695
    Natural varianti174 – 1741D → G.
    Corresponds to variant rs6054614 [ dbSNP | Ensembl ].
    VAR_053566
    Natural varianti224 – 2241F → L in BVVLS1. 1 Publication
    VAR_063696
    Natural varianti267 – 2671P → L.1 Publication
    Corresponds to variant rs3746804 [ dbSNP | Ensembl ].
    VAR_053567
    Natural varianti278 – 2781T → M.1 Publication
    Corresponds to variant rs3746803 [ dbSNP | Ensembl ].
    VAR_053568
    Natural varianti303 – 3031I → V.1 Publication
    Corresponds to variant rs3746802 [ dbSNP | Ensembl ].
    VAR_053569
    Natural varianti350 – 3501L → M May be a common polymorphism. 1 Publication
    Corresponds to variant rs76947760 [ dbSNP | Ensembl ].
    VAR_063698
    Natural varianti411 – 4111S → R.
    Corresponds to variant rs910857 [ dbSNP | Ensembl ].
    VAR_063699
    Natural varianti413 – 4131V → A in BVVLS1; may cause a mild form of the disease. 1 Publication
    VAR_063700
    Natural varianti457 – 4571F → L in BVVLS1. 1 Publication
    VAR_063701

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei401 – 41515ASWVL…SYVKV → SIRPVGLLPLRTPHP in isoform 2. 1 PublicationVSP_003814Add
    BLAST
    Alternative sequencei416 – 46954Missing in isoform 2. 1 PublicationVSP_003815Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK074650 mRNA. Translation: BAC11113.1.
    AK291706 mRNA. Translation: BAF84395.1.
    AL118502 Genomic DNA. Translation: CAH73077.2.
    AL118502 Genomic DNA. Translation: CAH73078.2.
    BC009750 mRNA. Translation: AAH09750.2.
    CCDSiCCDS13007.1. [Q9NQ40-1]
    RefSeqiNP_212134.3. NM_033409.3. [Q9NQ40-1]
    XP_005260712.1. XM_005260655.2. [Q9NQ40-1]
    XP_006723601.1. XM_006723538.1. [Q9NQ40-1]
    UniGeneiHs.283865.

    Genome annotation databases

    EnsembliENST00000217254; ENSP00000217254; ENSG00000101276. [Q9NQ40-1]
    ENST00000381944; ENSP00000371370; ENSG00000101276. [Q9NQ40-2]
    GeneIDi113278.
    KEGGihsa:113278.
    UCSCiuc002wed.4. human. [Q9NQ40-1]
    uc002wee.2. human. [Q9NQ40-2]

    Polymorphism databases

    DMDMi82654931.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK074650 mRNA. Translation: BAC11113.1 .
    AK291706 mRNA. Translation: BAF84395.1 .
    AL118502 Genomic DNA. Translation: CAH73077.2 .
    AL118502 Genomic DNA. Translation: CAH73078.2 .
    BC009750 mRNA. Translation: AAH09750.2 .
    CCDSi CCDS13007.1. [Q9NQ40-1 ]
    RefSeqi NP_212134.3. NM_033409.3. [Q9NQ40-1 ]
    XP_005260712.1. XM_005260655.2. [Q9NQ40-1 ]
    XP_006723601.1. XM_006723538.1. [Q9NQ40-1 ]
    UniGenei Hs.283865.

    3D structure databases

    ProteinModelPortali Q9NQ40.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000217254.

    Protein family/group databases

    TCDBi 9.A.53.1.2. the eukaryotic riboflavin transporter (e-rft) family.

    PTM databases

    PhosphoSitei Q9NQ40.

    Polymorphism databases

    DMDMi 82654931.

    Proteomic databases

    PRIDEi Q9NQ40.

    Protocols and materials databases

    DNASUi 113278.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000217254 ; ENSP00000217254 ; ENSG00000101276 . [Q9NQ40-1 ]
    ENST00000381944 ; ENSP00000371370 ; ENSG00000101276 . [Q9NQ40-2 ]
    GeneIDi 113278.
    KEGGi hsa:113278.
    UCSCi uc002wed.4. human. [Q9NQ40-1 ]
    uc002wee.2. human. [Q9NQ40-2 ]

    Organism-specific databases

    CTDi 113278.
    GeneCardsi GC20M000741.
    H-InvDB HIX0015557.
    HGNCi HGNC:16187. SLC52A3.
    HPAi HPA049391.
    MIMi 211500. phenotype.
    211530. phenotype.
    613350. gene.
    neXtProti NX_Q9NQ40.
    Orphaneti 97229. Riboflavin transporter deficiency.
    PharmGKBi PA25764.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326568.
    HOGENOMi HOG000247012.
    HOVERGENi HBG051170.
    InParanoidi Q9NQ40.
    KOi K14620.
    OMAi WVLDGHH.
    OrthoDBi EOG7XDBFX.
    PhylomeDBi Q9NQ40.
    TreeFami TF314820.

    Enzyme and pathway databases

    Reactomei REACT_11070. Vitamin B2 (riboflavin) metabolism.

    Miscellaneous databases

    GeneWikii C20orf54.
    GenomeRNAii 113278.
    NextBioi 78824.
    PROi Q9NQ40.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQ40.
    Bgeei Q9NQ40.
    CleanExi HS_C20orf54.
    Genevestigatori Q9NQ40.

    Family and domain databases

    InterProi IPR009357. Endogenous_retrovirus_rcpt.
    [Graphical view ]
    PANTHERi PTHR12929. PTHR12929. 1 hit.
    Pfami PF06237. DUF1011. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    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] (ISOFORM 2).
      Tissue: Mammary gland and Placenta.
    2. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [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 LEU-267; MET-278 AND VAL-303.
      Tissue: Pancreas.
    4. "Identification and functional characterization of rat riboflavin transporter 2."
      Yamamoto S., Inoue K., Ohta K.Y., Fukatsu R., Maeda J.Y., Yoshida Y., Yuasa H.
      J. Biochem. 145:437-443(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    5. "Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain."
      Yao Y., Yonezawa A., Yoshimatsu H., Masuda S., Katsura T., Inui K.
      J. Nutr. 140:1220-1226(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES.
    6. "Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment."
      Bosch A.M., Abeling N.G., Ijlst L., Knoester H., van der Pol W.L., Stroomer A.E., Wanders R.J., Visser G., Wijburg F.A., Duran M., Waterham H.R.
      J. Inherit. Metab. Dis. 34:159-164(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN FALOND.
    7. "Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54."
      Green P., Wiseman M., Crow Y.J., Houlden H., Riphagen S., Lin J.P., Raymond F.L., Childs A.M., Sheridan E., Edwards S., Josifova D.J.
      Am. J. Hum. Genet. 86:485-489(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BVVLS1 LYS-36; TRP-132; LEU-224; ALA-413 AND LEU-457, VARIANT MET-350.

    Entry informationi

    Entry nameiS52A3_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQ40
    Secondary accession number(s): A8K6P1
    , Q5W1A0, Q5W1A1, Q8NCL7, Q96GD5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 10, 2003
    Last sequence update: November 22, 2005
    Last modified: October 1, 2014
    This is version 112 of the entry and version 4 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 20
      Human chromosome 20: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3