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Q8IZ83

- A16A1_HUMAN

UniProt

Q8IZ83 - A16A1_HUMAN

Protein

Aldehyde dehydrogenase family 16 member A1

Gene

ALDH16A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 2 (24 Nov 2009)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aldehyde dehydrogenase family 16 member A1
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:28114. ALDH16A1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. membrane Source: UniProtKB

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134903503.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 802802Aldehyde dehydrogenase family 16 member A1PRO_0000312986Add
    BLAST

    Proteomic databases

    MaxQBiQ8IZ83.
    PaxDbiQ8IZ83.
    PRIDEiQ8IZ83.

    PTM databases

    PhosphoSiteiQ8IZ83.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8IZ83.
    BgeeiQ8IZ83.
    CleanExiHS_ALDH16A1.
    GenevestigatoriQ8IZ83.

    Organism-specific databases

    HPAiHPA059488.

    Interactioni

    Subunit structurei

    Interacts with SPG21.1 Publication

    Protein-protein interaction databases

    BioGridi125959. 10 interactions.
    IntActiQ8IZ83. 7 interactions.
    MINTiMINT-4999900.
    STRINGi9606.ENSP00000293350.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IZ83.
    SMRiQ8IZ83. Positions 12-494, 527-794.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the aldehyde dehydrogenase family.Curated

    Phylogenomic databases

    eggNOGiCOG1012.
    HOGENOMiHOG000112558.
    HOVERGENiHBG069396.
    InParanoidiQ8IZ83.
    OMAiQESVWDE.
    OrthoDBiEOG7Q2N4V.
    PhylomeDBiQ8IZ83.
    TreeFamiTF329461.

    Family and domain databases

    Gene3Di3.40.309.10. 1 hit.
    3.40.605.10. 2 hits.
    InterProiIPR016161. Ald_DH/histidinol_DH.
    IPR016163. Ald_DH_C.
    IPR016162. Ald_DH_N.
    IPR011408. Aldehyde_DH.
    IPR015590. Aldehyde_DH_dom.
    [Graphical view]
    PfamiPF00171. Aldedh. 2 hits.
    [Graphical view]
    PIRSFiPIRSF036490. Aldedh_dupl. 1 hit.
    SUPFAMiSSF53720. SSF53720. 2 hits.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IZ83-1) [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

    MAATRAGPRA REIFTSLEYG PVPESHACAL AWLDTQDRCL GHYVNGKWLK    50
    PEHRNSVPCQ DPITGENLAS CLQAQAEDVA AAVEAARMAF KGWSAHPGVV 100
    RAQHLTRLAE VIQKHQRLLW TLESLVTGRA VREVRDGDVQ LAQQLLHYHA 150
    IQASTQEEAL AGWEPMGVIG LILPPTFSFL EMMWRICPAL AVGCTVVALV 200
    PPASPAPLLL AQLAGELGPF PGILNVLSGP ASLVPILASQ PGIRKVAFCG 250
    APEEGRALRR SLAGECAELG LALGTESLLL LTDTADVDSA VEGVVDAAWS 300
    DRGPGGLRLL IQESVWDEAM RRLQERMGRL RSGRGLDGAV DMGARGAAAC 350
    DLVQRFVREA QSQGAQVFQA GDVPSERPFY PPTLVSNLPP ASPCAQVEVP 400
    WPVVVASPFR TAKEALLVAN GTPRGGSASV WSERLGQALE LGYGLQVGTV 450
    WINAHGLRDP SVPTGGCKES GCSWHGGPDG LYEYLRPSGT PARLSCLSKN 500
    LNYDTFGLAV PSTLPAGPEI GPSPAPPYGL FVGGRFQAPG ARSSRPIRDS 550
    SGNLHGYVAE GGAKDIRGAV EAAHQAFPGW AGQSPGARAA LLWALAAALE 600
    RRKSTLASRL ERQGAELKAA EAEVELSARR LRAWGARVQA QGHTLQVAGL 650
    RGPVLRLREP LGVLAVVCPD EWPLLAFVSL LAPALAYGNT VVMVPSAACP 700
    LLALEVCQDM ATVFPAGLAN VVTGDRDHLT RCLALHQDVQ AMWYFGSAQG 750
    SQFVEWASAG NLKPVWASRG CPRAWDQEAE GAGPELGLRV ARTKALWLPM 800
    GD 802
    Length:802
    Mass (Da):85,127
    Last modified:November 24, 2009 - v2
    Checksum:i2820628CD0EF5823
    GO
    Isoform 2 (identifier: Q8IZ83-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         254-308: EGRALRRSLA...WSDRGPGGLR → VPSGQGSWRN...WRWGRSRCCC
         309-802: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:308
    Mass (Da):33,128
    Checksum:i7D022E99C1ACAAA7
    GO
    Isoform 3 (identifier: Q8IZ83-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         254-304: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:751
    Mass (Da):79,918
    Checksum:iAFE26F607346D768
    GO

    Sequence cautioni

    The sequence AAH35641.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti110 – 1101E → K.
    Corresponds to variant rs3745312 [ dbSNP | Ensembl ].
    VAR_037638
    Natural varianti227 – 2271L → V.2 Publications
    Corresponds to variant rs1320303 [ dbSNP | Ensembl ].
    VAR_037639

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei254 – 30855EGRAL…PGGLR → VPSGQGSWRNAAGGRKAPPA AELGGVPRKGVPFDGAWRES VRSWAWRWGRSRCCC in isoform 2. 1 PublicationVSP_029982Add
    BLAST
    Alternative sequencei254 – 30451Missing in isoform 3. 1 PublicationVSP_043280Add
    BLAST
    Alternative sequencei309 – 802494Missing in isoform 2. 1 PublicationVSP_029983Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK074136 mRNA. Translation: BAB84962.1. Sequence problems.
    AK297101 mRNA. Translation: BAG59613.1.
    AC010619 Genomic DNA. No translation available.
    BC014895 mRNA. Translation: AAH14895.2.
    BC035641 mRNA. Translation: AAH35641.1. Different initiation.
    BC042142 mRNA. Translation: AAH42142.1.
    CCDSiCCDS12766.1. [Q8IZ83-1]
    CCDS46141.1. [Q8IZ83-3]
    RefSeqiNP_001138868.1. NM_001145396.1. [Q8IZ83-3]
    NP_699160.2. NM_153329.3. [Q8IZ83-1]
    UniGeneiHs.719998.

    Genome annotation databases

    EnsembliENST00000293350; ENSP00000293350; ENSG00000161618. [Q8IZ83-1]
    ENST00000455361; ENSP00000410142; ENSG00000161618. [Q8IZ83-3]
    GeneIDi126133.
    KEGGihsa:126133.
    UCSCiuc002pnt.3. human. [Q8IZ83-1]
    uc010yar.2. human. [Q8IZ83-3]

    Polymorphism databases

    DMDMi269849532.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK074136 mRNA. Translation: BAB84962.1 . Sequence problems.
    AK297101 mRNA. Translation: BAG59613.1 .
    AC010619 Genomic DNA. No translation available.
    BC014895 mRNA. Translation: AAH14895.2 .
    BC035641 mRNA. Translation: AAH35641.1 . Different initiation.
    BC042142 mRNA. Translation: AAH42142.1 .
    CCDSi CCDS12766.1. [Q8IZ83-1 ]
    CCDS46141.1. [Q8IZ83-3 ]
    RefSeqi NP_001138868.1. NM_001145396.1. [Q8IZ83-3 ]
    NP_699160.2. NM_153329.3. [Q8IZ83-1 ]
    UniGenei Hs.719998.

    3D structure databases

    ProteinModelPortali Q8IZ83.
    SMRi Q8IZ83. Positions 12-494, 527-794.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125959. 10 interactions.
    IntActi Q8IZ83. 7 interactions.
    MINTi MINT-4999900.
    STRINGi 9606.ENSP00000293350.

    PTM databases

    PhosphoSitei Q8IZ83.

    Polymorphism databases

    DMDMi 269849532.

    Proteomic databases

    MaxQBi Q8IZ83.
    PaxDbi Q8IZ83.
    PRIDEi Q8IZ83.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000293350 ; ENSP00000293350 ; ENSG00000161618 . [Q8IZ83-1 ]
    ENST00000455361 ; ENSP00000410142 ; ENSG00000161618 . [Q8IZ83-3 ]
    GeneIDi 126133.
    KEGGi hsa:126133.
    UCSCi uc002pnt.3. human. [Q8IZ83-1 ]
    uc010yar.2. human. [Q8IZ83-3 ]

    Organism-specific databases

    CTDi 126133.
    GeneCardsi GC19P049958.
    H-InvDB HIX0202728.
    HGNCi HGNC:28114. ALDH16A1.
    HPAi HPA059488.
    MIMi 613358. gene.
    neXtProti NX_Q8IZ83.
    PharmGKBi PA134903503.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1012.
    HOGENOMi HOG000112558.
    HOVERGENi HBG069396.
    InParanoidi Q8IZ83.
    OMAi QESVWDE.
    OrthoDBi EOG7Q2N4V.
    PhylomeDBi Q8IZ83.
    TreeFami TF329461.

    Miscellaneous databases

    GeneWikii ALDH16A1.
    GenomeRNAii 126133.
    NextBioi 81700.
    PROi Q8IZ83.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IZ83.
    Bgeei Q8IZ83.
    CleanExi HS_ALDH16A1.
    Genevestigatori Q8IZ83.

    Family and domain databases

    Gene3Di 3.40.309.10. 1 hit.
    3.40.605.10. 2 hits.
    InterProi IPR016161. Ald_DH/histidinol_DH.
    IPR016163. Ald_DH_C.
    IPR016162. Ald_DH_N.
    IPR011408. Aldehyde_DH.
    IPR015590. Aldehyde_DH_dom.
    [Graphical view ]
    Pfami PF00171. Aldedh. 2 hits.
    [Graphical view ]
    PIRSFi PIRSF036490. Aldedh_dupl. 1 hit.
    SUPFAMi SSF53720. SSF53720. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "The nucleotide sequence of a long cDNA clone isolated from human spleen."
      Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O.
      Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-227.
      Tissue: Spleen.
    2. "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 3).
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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), VARIANT VAL-227.
      Tissue: Lymph, Skin and Uterus.
    5. "Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1."
      Hanna M.C., Blackstone C.
      Neurogenetics 10:217-228(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SPG21.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiA16A1_HUMAN
    AccessioniPrimary (citable) accession number: Q8IZ83
    Secondary accession number(s): B4DLQ1
    , C9JBH6, Q86YF0, Q8IYL4, Q8TEI8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: November 24, 2009
    Last modified: October 1, 2014
    This is version 97 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, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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