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P43251

- BTD_HUMAN

UniProt

P43251 - BTD_HUMAN

Protein

Biotinidase

Gene

BTD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (14 Apr 2009)
      Previous versions | rss
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    Functioni

    Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.

    Catalytic activityi

    Biotin amide + H2O = biotin + NH3.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei112 – 1121Proton acceptorPROSITE-ProRule annotation
    Active sitei212 – 2121Proton donorPROSITE-ProRule annotation
    Active sitei245 – 2451NucleophilePROSITE-ProRule annotation

    GO - Molecular functioni

    1. biotin carboxylase activity Source: ProtInc
    2. biotinidase activity Source: UniProtKB-EC

    GO - Biological processi

    1. biotin metabolic process Source: Reactome
    2. central nervous system development Source: ProtInc
    3. epidermis development Source: ProtInc
    4. small molecule metabolic process Source: Reactome
    5. vitamin metabolic process Source: Reactome
    6. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Molecular functioni

    Hydrolase

    Enzyme and pathway databases

    ReactomeiREACT_11153. Biotin transport and metabolism.
    SABIO-RKP43251.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Biotinidase (EC:3.5.1.12)
    Short name:
    Biotinase
    Gene namesi
    Name:BTD
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:1122. BTD.

    Subcellular locationi

    GO - Cellular componenti

    1. apical part of cell Source: Ensembl
    2. extracellular region Source: Reactome
    3. extracellular space Source: UniProt
    4. extracellular vesicular exosome Source: UniProt
    5. mitochondrial matrix Source: Reactome
    6. nucleolus Source: Ensembl
    7. perikaryon Source: Ensembl

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Biotinidase deficiency (BTD deficiency) [MIM:253260]: A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti128 – 1281F → V in BTD deficiency. 1 Publication
    VAR_005113
    Natural varianti171 – 1711A → T in BTD deficiency. 2 Publications
    Corresponds to variant rs13073139 [ dbSNP | Ensembl ].
    VAR_005114
    Natural varianti228 – 2281D → Y in BTD deficiency. 1 Publication
    VAR_005115
    Natural varianti323 – 3231H → R in BTD deficiency; partial. 1 Publication
    VAR_005116
    Natural varianti444 – 4441D → H in BTD deficiency; profound and partial; 52% decrease in activity. 2 Publications
    Corresponds to variant rs13078881 [ dbSNP | Ensembl ].
    VAR_005117
    Natural varianti451 – 4511G → D in BTD deficiency; partial. 1 Publication
    VAR_005118
    Natural varianti456 – 4561Q → H in BTD deficiency. 1 Publication
    Corresponds to variant rs80338685 [ dbSNP | Ensembl ].
    VAR_005119
    Natural varianti532 – 5321T → M in BTD deficiency. 1 Publication
    Corresponds to variant rs104893688 [ dbSNP | Ensembl ].
    VAR_005120
    Natural varianti538 – 5381R → C in BTD deficiency. 2 Publications
    VAR_005121

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi253260. phenotype.
    Orphaneti79241. Biotinidase deficiency.
    PharmGKBiPA25443.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 4141Add
    BLAST
    Chaini42 – 543502BiotinidasePRO_0000019707Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi119 – 1191N-linked (GlcNAc...)2 Publications
    Glycosylationi150 – 1501N-linked (GlcNAc...) (complex)3 Publications
    Glycosylationi203 – 2031N-linked (GlcNAc...)1 Publication
    Glycosylationi349 – 3491N-linked (GlcNAc...)2 Publications
    Glycosylationi402 – 4021N-linked (GlcNAc...)2 Publications
    Glycosylationi489 – 4891N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiP43251.
    PaxDbiP43251.
    PRIDEiP43251.

    PTM databases

    PhosphoSiteiP43251.

    Expressioni

    Gene expression databases

    ArrayExpressiP43251.
    BgeeiP43251.
    CleanExiHS_BTD.
    GenevestigatoriP43251.

    Organism-specific databases

    HPAiHPA052275.

    Interactioni

    Protein-protein interaction databases

    BioGridi107151. 1 interaction.
    IntActiP43251. 1 interaction.
    STRINGi9606.ENSP00000306477.

    Structurei

    3D structure databases

    ProteinModelPortaliP43251.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini57 – 363307CN hydrolasePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 CN hydrolase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG270742.
    HOGENOMiHOG000007627.
    HOVERGENiHBG003996.
    InParanoidiP43251.
    KOiK01435.
    PhylomeDBiP43251.
    TreeFamiTF323645.

    Family and domain databases

    Gene3Di3.60.110.10. 1 hit.
    InterProiIPR012101. Biotinidase_euk.
    IPR003010. C-N_Hydrolase.
    [Graphical view]
    PANTHERiPTHR10609. PTHR10609. 1 hit.
    PfamiPF00795. CN_hydrolase. 1 hit.
    [Graphical view]
    PIRSFiPIRSF011861. Biotinidase. 1 hit.
    SUPFAMiSSF56317. SSF56317. 1 hit.
    PROSITEiPS50263. CN_HYDROLASE. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P43251-1) [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

    MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA    50
    DHHEAEYYVA AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA 100
    AQKDVQIIVF PEDGIHGFNF TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN 150
    DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH SSDPRCPKDG RYQFNTNVVF 200
    SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF GIFTCFDILF 250
    FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN 300
    VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA 350
    TGETDPSHSK FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY 400
    DNFTLVPVWG KEGYLHVCSN GLCCYLLYER PTLSKELYAL GVFDGLHTVH 450
    GTYYIQVCAL VRCGGLGFDT CGQEITEATG IFEFHLWGNF STSYIFPLFL 500
    TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY ERD 543
    Length:543
    Mass (Da):61,133
    Last modified:April 14, 2009 - v2
    Checksum:i1A999893A0784944
    GO
    Isoform 2 (identifier: P43251-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: MAHAHIQGGRRAKS → MARKETQLIIKMNHLA

    Note: No experimental confirmation available.

    Show »
    Length:545
    Mass (Da):61,510
    Checksum:iBD12F620C4FF7EE9
    GO
    Isoform 3 (identifier: P43251-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-13: MAHAHIQGGRRAK → MPEGGGTSRRLLPMQ

    Note: No experimental confirmation available.

    Show »
    Length:545
    Mass (Da):61,330
    Checksum:iAC348AE5C8DF373C
    GO
    Isoform 4 (identifier: P43251-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-20: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:523
    Mass (Da):58,913
    Checksum:i62ED4E8FACA8020D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti379 – 3791H → Y in BAH13565. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti128 – 1281F → V in BTD deficiency. 1 Publication
    VAR_005113
    Natural varianti171 – 1711A → T in BTD deficiency. 2 Publications
    Corresponds to variant rs13073139 [ dbSNP | Ensembl ].
    VAR_005114
    Natural varianti228 – 2281D → Y in BTD deficiency. 1 Publication
    VAR_005115
    Natural varianti323 – 3231H → R in BTD deficiency; partial. 1 Publication
    VAR_005116
    Natural varianti391 – 3911P → S.
    Corresponds to variant rs35034250 [ dbSNP | Ensembl ].
    VAR_056238
    Natural varianti444 – 4441D → H in BTD deficiency; profound and partial; 52% decrease in activity. 2 Publications
    Corresponds to variant rs13078881 [ dbSNP | Ensembl ].
    VAR_005117
    Natural varianti451 – 4511G → D in BTD deficiency; partial. 1 Publication
    VAR_005118
    Natural varianti456 – 4561Q → H in BTD deficiency. 1 Publication
    Corresponds to variant rs80338685 [ dbSNP | Ensembl ].
    VAR_005119
    Natural varianti532 – 5321T → M in BTD deficiency. 1 Publication
    Corresponds to variant rs104893688 [ dbSNP | Ensembl ].
    VAR_005120
    Natural varianti538 – 5381R → C in BTD deficiency. 2 Publications
    VAR_005121

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2020Missing in isoform 4. 1 PublicationVSP_055921Add
    BLAST
    Alternative sequencei1 – 1414MAHAH…RRAKS → MARKETQLIIKMNHLA in isoform 2. 1 PublicationVSP_054925Add
    BLAST
    Alternative sequencei1 – 1313MAHAH…GRRAK → MPEGGGTSRRLLPMQ in isoform 3. 1 PublicationVSP_054926Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U03274 mRNA. Translation: AAC04318.1.
    AF018631, AF018630 Genomic DNA. Translation: AAC21679.1.
    AK294301 mRNA. Translation: BAG57582.1.
    AK297033 mRNA. Translation: BAG59561.1.
    AK301838 mRNA. Translation: BAH13565.1.
    AK313252 mRNA. Translation: BAG36062.1.
    AC027129 Genomic DNA. No translation available.
    CH471055 Genomic DNA. Translation: EAW64254.1.
    BC012099 mRNA. Translation: AAH12099.1.
    CCDSiCCDS2628.1. [P43251-1]
    CCDS63563.1. [P43251-3]
    CCDS63564.1. [P43251-2]
    PIRiA54362.
    RefSeqiNP_000051.1. NM_000060.3. [P43251-1]
    NP_001268652.1. NM_001281723.1. [P43251-3]
    NP_001268653.1. NM_001281724.1.
    NP_001268654.1. NM_001281725.1.
    XP_005265474.1. XM_005265417.2.
    XP_006713377.1. XM_006713314.1.
    XP_006713378.1. XM_006713315.1.
    UniGeneiHs.517830.

    Genome annotation databases

    EnsembliENST00000303498; ENSP00000306477; ENSG00000169814. [P43251-1]
    ENST00000383778; ENSP00000373288; ENSG00000169814.
    ENST00000437172; ENSP00000400995; ENSG00000169814. [P43251-2]
    ENST00000449107; ENSP00000388212; ENSG00000169814. [P43251-3]
    GeneIDi686.
    KEGGihsa:686.
    UCSCiuc003cah.3. human. [P43251-1]

    Polymorphism databases

    DMDMi226693503.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U03274 mRNA. Translation: AAC04318.1 .
    AF018631 , AF018630 Genomic DNA. Translation: AAC21679.1 .
    AK294301 mRNA. Translation: BAG57582.1 .
    AK297033 mRNA. Translation: BAG59561.1 .
    AK301838 mRNA. Translation: BAH13565.1 .
    AK313252 mRNA. Translation: BAG36062.1 .
    AC027129 Genomic DNA. No translation available.
    CH471055 Genomic DNA. Translation: EAW64254.1 .
    BC012099 mRNA. Translation: AAH12099.1 .
    CCDSi CCDS2628.1. [P43251-1 ]
    CCDS63563.1. [P43251-3 ]
    CCDS63564.1. [P43251-2 ]
    PIRi A54362.
    RefSeqi NP_000051.1. NM_000060.3. [P43251-1 ]
    NP_001268652.1. NM_001281723.1. [P43251-3 ]
    NP_001268653.1. NM_001281724.1.
    NP_001268654.1. NM_001281725.1.
    XP_005265474.1. XM_005265417.2.
    XP_006713377.1. XM_006713314.1.
    XP_006713378.1. XM_006713315.1.
    UniGenei Hs.517830.

    3D structure databases

    ProteinModelPortali P43251.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107151. 1 interaction.
    IntActi P43251. 1 interaction.
    STRINGi 9606.ENSP00000306477.

    PTM databases

    PhosphoSitei P43251.

    Polymorphism databases

    DMDMi 226693503.

    Proteomic databases

    MaxQBi P43251.
    PaxDbi P43251.
    PRIDEi P43251.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303498 ; ENSP00000306477 ; ENSG00000169814 . [P43251-1 ]
    ENST00000383778 ; ENSP00000373288 ; ENSG00000169814 .
    ENST00000437172 ; ENSP00000400995 ; ENSG00000169814 . [P43251-2 ]
    ENST00000449107 ; ENSP00000388212 ; ENSG00000169814 . [P43251-3 ]
    GeneIDi 686.
    KEGGi hsa:686.
    UCSCi uc003cah.3. human. [P43251-1 ]

    Organism-specific databases

    CTDi 686.
    GeneCardsi GC03P015621.
    GeneReviewsi BTD.
    HGNCi HGNC:1122. BTD.
    HPAi HPA052275.
    MIMi 253260. phenotype.
    609019. gene.
    neXtProti NX_P43251.
    Orphaneti 79241. Biotinidase deficiency.
    PharmGKBi PA25443.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG270742.
    HOGENOMi HOG000007627.
    HOVERGENi HBG003996.
    InParanoidi P43251.
    KOi K01435.
    PhylomeDBi P43251.
    TreeFami TF323645.

    Enzyme and pathway databases

    Reactomei REACT_11153. Biotin transport and metabolism.
    SABIO-RK P43251.

    Miscellaneous databases

    GenomeRNAii 686.
    NextBioi 2824.
    PROi P43251.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P43251.
    Bgeei P43251.
    CleanExi HS_BTD.
    Genevestigatori P43251.

    Family and domain databases

    Gene3Di 3.60.110.10. 1 hit.
    InterProi IPR012101. Biotinidase_euk.
    IPR003010. C-N_Hydrolase.
    [Graphical view ]
    PANTHERi PTHR10609. PTHR10609. 1 hit.
    Pfami PF00795. CN_hydrolase. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF011861. Biotinidase. 1 hit.
    SUPFAMi SSF56317. SSF56317. 1 hit.
    PROSITEi PS50263. CN_HYDROLASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human serum biotinidase. cDNA cloning, sequence, and characterization."
      Cole H., Reynolds T.R., Lockyer J.M., Buck G.A., Denson T., Spence J.E., Hymes J., Wolf B.
      J. Biol. Chem. 269:6566-6570(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE.
      Tissue: Liver.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "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; 2; 3 AND 4).
      Tissue: Amygdala, Pericardium and Umbilical cord blood.
    4. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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).
      Tissue: Kidney.
    7. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
      J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-119; ASN-150; ASN-203; ASN-349 AND ASN-402.
      Tissue: Plasma.
    8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-119; ASN-150; ASN-349 AND ASN-402.
      Tissue: Liver.
    9. Cited for: GLYCOSYLATION AT ASN-150.
    10. "Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children."
      Pomponio R.J., Norrgard K.J., Hymes J., Reynolds T.R., Buck G.A., Baumgartner R., Suormala T., Wolf B.
      Hum. Genet. 99:506-512(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BTD DEFICIENCY CYS-538.
    11. "Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene."
      Swango K.L., Demirkol M., Huener G., Pronicka E., Sykut-Cegielska J., Schulze A., Mayatepek E., Wolf B.
      Hum. Genet. 102:571-575(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BTD DEFICIENCY VAL-128; THR-171; TYR-228; ARG-323; HIS-444; ASP-451; HIS-456; MET-532 AND CYS-538.
    12. "Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States."
      Norrgard K.J., Pomponio R.J., Swango K.L., Hymes J., Reynolds T., Buck G.A., Wolf B.
      Hum. Mutat. 11:410-410(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BTD DEFICIENCY THR-171 AND HIS-444.

    Entry informationi

    Entry nameiBTD_HUMAN
    AccessioniPrimary (citable) accession number: P43251
    Secondary accession number(s): A6NHF2
    , B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, Q96EM9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: April 14, 2009
    Last modified: October 1, 2014
    This is version 130 of the entry and version 2 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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