BTD | ENSG00000169814 | NCBI 686

Details for: BTD

Gene ID: 686

Symbol: BTD

Ensembl ID: ENSG00000169814

Description: biotinidase

Associated with

Biotin transport and metabolism
(R-HSA-196780)
Defective btd causes biotidinase deficiency
(R-HSA-3371598)
Defects in biotin (btn) metabolism
(R-HSA-3323169)
Defects in vitamin and cofactor metabolism
(R-HSA-3296482)
Disease
(R-HSA-1643685)
Diseases of metabolism
(R-HSA-5668914)
Metabolism
(R-HSA-1430728)
Metabolism of vitamins and cofactors
(R-HSA-196854)
Metabolism of water-soluble vitamins and cofactors
(R-HSA-196849)
Biotinidase activity
(GO:0047708)
Biotin metabolic process
(GO:0006768)
Central nervous system development
(GO:0007417)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Mitochondrial matrix
(GO:0005759)

Other Information

Proteins

BTD_HUMAN

Genular Protein ID: 1391392459

Symbol: BTD_HUMAN

Name: N/A

UniProtKB Accession Codes:

P43251 A6NHF2 B2R865 B4DFX1 B4DLJ9 B7Z7C9 F8W1Q3 Q96EM9

Database IDs:

Citations:

PubMed ID: 7509806

Title: Human serum biotinidase. cDNA cloning, sequence, and characterization.

PubMed ID: 7509806

DOI: 10.1016/s0021-9258(17)37409-4

PubMed ID: 9530634

Title: Structure of the human biotinidase gene.

PubMed ID: 9530634

DOI: 10.1007/s003359900760

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 19139490

Title: A strategy for precise and large scale identification of core fucosylated glycoproteins.

PubMed ID: 19139490

DOI: 10.1074/mcp.m800504-mcp200

PubMed ID: 9099842

Title: 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.

PubMed ID: 9099842

DOI: 10.1007/s004390050397

PubMed ID: 9654207

Title: Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

PubMed ID: 9654207

DOI: 10.1007/s004390050742

PubMed ID: 10206677

Title: Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

PubMed ID: 10206677

DOI: 10.1002/(sici)1098-1004(1998)11:5<410::aid-humu10>3.0.co;2-8

Sequence Information:

Length: 543
Mass: 61133
Checksum: 1A999893A0784944
Sequence:

MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA 
AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF 
TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH 
SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF 
GIFTCFDILF FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN 
VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK 
FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN 
GLCCYLLYER PTLSKELYAL GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG 
IFEFHLWGNF STSYIFPLFL TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY 
ERD

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: BTD

Associated with

Other Information

Human serum biotinidase. cDNA cloning, sequence, and characterization. PubMed ID: 7509806

Structure of the human biotinidase gene. PubMed ID: 9530634

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence, annotation and analysis of human chromosome 3. PubMed ID: 16641997

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. PubMed ID: 16335952

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. PubMed ID: 19159218

A strategy for precise and large scale identification of core fucosylated glycoproteins. PubMed ID: 19139490

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. PubMed ID: 9099842

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. PubMed ID: 9654207

Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. PubMed ID: 10206677