Details for: ALDH1A3
Associated with
Other Information
Genular Protein ID: 3587866517
Symbol: AL1A3_HUMAN
Name: Retinaldehyde dehydrogenase 3
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7698756
Title: Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6.
PubMed ID: 7698756
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: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22814378
Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
PubMed ID: 22814378
PubMed ID: 23591992
Title: ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
PubMed ID: 23591992
DOI: 10.1093/hmg/ddt179
PubMed ID: 27759097
Title: Crystal structure of human aldehyde dehydrogenase 1A3 complexed with NAD(+) and retinoic acid.
PubMed ID: 27759097
DOI: 10.1038/srep35710
PubMed ID: 23312594
Title: ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
PubMed ID: 23312594
PubMed ID: 23646827
PubMed ID: 24568872
Title: Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
PubMed ID: 24568872
PubMed ID: 24024553
Title: A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
PubMed ID: 24024553
DOI: 10.1111/cge.12277
PubMed ID: 23881059
Title: A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.
PubMed ID: 23881059
PubMed ID: 24777706
Title: Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
PubMed ID: 24777706
DOI: 10.1002/humu.22580
Sequence Information:
- Length: 512
- Mass: 56108
- Checksum: 1BFCF4F56F0FE89A
- Sequence:
MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA TCNPSTREQI CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL HQLADLVERD RATLAALETM DTGKPFLHAF FIDLEGCIRT LRYFAGWADK IQGKTIPTDD NVVCFTRHEP IGVCGAITPW NFPLLMLVWK LAPALCCGNT MVLKPAEQTP LTALYLGSLI KEAGFPPGVV NIVPGFGPTV GAAISSHPQI NKIAFTGSTE VGKLVKEAAS RSNLKRVTLE LGGKNPCIVC ADADLDLAVE CAHQGVFFNQ GQCCTAASRV FVEEQVYSEF VRRSVEYAKK RPVGDPFDVK TEQGPQIDQK QFDKILELIE SGKKEGAKLE CGGSAMEDKG LFIKPTVFSE VTDNMRIAKE EIFGPVQPIL KFKSIEEVIK RANSTDYGLT AAVFTKNLDK ALKLASALES GTVWINCYNA LYAQAPFGGF KMSGNGRELG EYALAEYTEV KTVTIKLGDK NP
Genular Protein ID: 732464347
Symbol: H0Y2X5_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11181995
PubMed ID: 16572171
Title: Analysis of the DNA sequence and duplication history of human chromosome 15.
PubMed ID: 16572171
DOI: 10.1038/nature04601
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22814378
Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
PubMed ID: 22814378
Sequence Information:
- Length: 405
- Mass: 44256
- Checksum: CE65AE95A0149C63
- Sequence:
MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA TCNPSTREQI CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL HQLADLVERD RATLAAGFPP GVVNIVPGFG PTVGAAISSH PQINKIAFTG STEVGKLVKE AASRSNLKRV TLELGGKNPC IVCADADLDL AVECAHQGVF FNQGQCCTAA SRVFVEEQVY SEFVRRSVEY AKKRPVGDPF DVKTEQGPQI DQKQFDKILE LIESGKKEGA KLECGGSAME DKGLFIKPTV FSEVTDNMRI AKEEIFGPVQ PILKFKSIEE VIKRANSTDY GLTAAVFTKN LDKALKLASA LESGTVWINC YNALYAQAPF GGFKMSGNGR ELGEYALAEY TEVKTVTIKL GDKNP
Genular Protein ID: 3225247372
Symbol: Q7Z3A2_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 416
- Mass: 45435
- Checksum: BBF5DB0FA5C68D6D
- Sequence:
RAPRARERGG AMATANGAVE NGQPDRKPPA LPRPIRNLEV KFTKIFINNE WHESKSGKKF ATCNPSTREQ ICEVEEGDKP DVDKAVEAAQ VAFQRGSPWR RLDALSRGRL LHQLADLVER DRATLAAGFP PGVVNIVPGF GPTVGAAISS HPQINKIAFT GSTEVGKLVK EAASRSNLKR VTLELGGKNP CIVCADADLD LAVECAHQGV FFNQGQCCTA ASRVFVEEQV YSEFVRRSVE YAKKRPVGDP FDVKTEQGPQ IDQKQFDKIL ELIESGKKEG AKLECGGSAM EDKGLFIKPT VFSEVTDNMR IAKEEIFGPV QPILKFKSIE EVIKRANSTD YGLTAAVFTK NLDKALKLAS ALESGTVWIN CYNALYAQAP FGGFKMSGNG RELGEYALAE YTEVKTVTIK LGDKNP
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.