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Q8IZ83

- A16A1_HUMAN

UniProt

Q8IZ83 - A16A1_HUMAN

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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

Functioni

GO - Molecular functioni

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

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
Complete GO annotation...

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

BgeeiQ8IZ83.
CleanExiHS_ALDH16A1.
ExpressionAtlasiQ8IZ83. baseline and differential.
GenevestigatoriQ8IZ83.

Organism-specific databases

HPAiHPA059488.

Interactioni

Subunit structurei

Interacts with SPG21.1 Publication

Protein-protein interaction databases

BioGridi125959. 15 interactions.
IntActiQ8IZ83. 8 interactions.
MINTiMINT-4999900.
STRINGi9606.ENSP00000293350.

Structurei

3D structure databases

ProteinModelPortaliQ8IZ83.
SMRiQ8IZ83. Positions 65-494, 528-792.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the aldehyde dehydrogenase family.Curated

Phylogenomic databases

eggNOGiCOG1012.
GeneTreeiENSGT00760000119347.
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

        10         20         30         40         50
MAATRAGPRA REIFTSLEYG PVPESHACAL AWLDTQDRCL GHYVNGKWLK
60 70 80 90 100
PEHRNSVPCQ DPITGENLAS CLQAQAEDVA AAVEAARMAF KGWSAHPGVV
110 120 130 140 150
RAQHLTRLAE VIQKHQRLLW TLESLVTGRA VREVRDGDVQ LAQQLLHYHA
160 170 180 190 200
IQASTQEEAL AGWEPMGVIG LILPPTFSFL EMMWRICPAL AVGCTVVALV
210 220 230 240 250
PPASPAPLLL AQLAGELGPF PGILNVLSGP ASLVPILASQ PGIRKVAFCG
260 270 280 290 300
APEEGRALRR SLAGECAELG LALGTESLLL LTDTADVDSA VEGVVDAAWS
310 320 330 340 350
DRGPGGLRLL IQESVWDEAM RRLQERMGRL RSGRGLDGAV DMGARGAAAC
360 370 380 390 400
DLVQRFVREA QSQGAQVFQA GDVPSERPFY PPTLVSNLPP ASPCAQVEVP
410 420 430 440 450
WPVVVASPFR TAKEALLVAN GTPRGGSASV WSERLGQALE LGYGLQVGTV
460 470 480 490 500
WINAHGLRDP SVPTGGCKES GCSWHGGPDG LYEYLRPSGT PARLSCLSKN
510 520 530 540 550
LNYDTFGLAV PSTLPAGPEI GPSPAPPYGL FVGGRFQAPG ARSSRPIRDS
560 570 580 590 600
SGNLHGYVAE GGAKDIRGAV EAAHQAFPGW AGQSPGARAA LLWALAAALE
610 620 630 640 650
RRKSTLASRL ERQGAELKAA EAEVELSARR LRAWGARVQA QGHTLQVAGL
660 670 680 690 700
RGPVLRLREP LGVLAVVCPD EWPLLAFVSL LAPALAYGNT VVMVPSAACP
710 720 730 740 750
LLALEVCQDM ATVFPAGLAN VVTGDRDHLT RCLALHQDVQ AMWYFGSAQG
760 770 780 790 800
SQFVEWASAG NLKPVWASRG CPRAWDQEAE GAGPELGLRV ARTKALWLPM

GD
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 65-494, 528-792.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125959. 15 interactions.
IntActi Q8IZ83. 8 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.
GeneTreei ENSGT00760000119347.
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

Bgeei Q8IZ83.
CleanExi HS_ALDH16A1.
ExpressionAtlasi Q8IZ83. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 98 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