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Q8IZ83 (A16A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Aldehyde dehydrogenase family 16 member A1
Gene names
Name:ALDH16A1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length802 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with SPG21. Ref.5

Sequence similarities

Belongs to the aldehyde dehydrogenase family.

Caution

The active site cysteine and glutamate residues are not conserved in this protein. Its activity is therefore unsure.

Sequence caution

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

The sequence BAB84962.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IZ83-1)

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.
Isoform 2 (identifier: Q8IZ83-2)

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.
Isoform 3 (identifier: Q8IZ83-3)

The sequence of this isoform differs from the canonical sequence as follows:
     254-304: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 802802Aldehyde dehydrogenase family 16 member A1
PRO_0000312986

Natural variations

Alternative sequence254 – 30855EGRAL…PGGLR → VPSGQGSWRNAAGGRKAPPA AELGGVPRKGVPFDGAWRES VRSWAWRWGRSRCCC in isoform 2.
VSP_029982
Alternative sequence254 – 30451Missing in isoform 3.
VSP_043280
Alternative sequence309 – 802494Missing in isoform 2.
VSP_029983
Natural variant1101E → K.
Corresponds to variant rs3745312 [ dbSNP | Ensembl ].
VAR_037638
Natural variant2271L → V. Ref.1 Ref.4
Corresponds to variant rs1320303 [ dbSNP | Ensembl ].
VAR_037639

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 24, 2009. Version 2.
Checksum: 2820628CD0EF5823

FASTA80285,127
        10         20         30         40         50         60 
MAATRAGPRA REIFTSLEYG PVPESHACAL AWLDTQDRCL GHYVNGKWLK PEHRNSVPCQ 

        70         80         90        100        110        120 
DPITGENLAS CLQAQAEDVA AAVEAARMAF KGWSAHPGVV RAQHLTRLAE VIQKHQRLLW 

       130        140        150        160        170        180 
TLESLVTGRA VREVRDGDVQ LAQQLLHYHA IQASTQEEAL AGWEPMGVIG LILPPTFSFL 

       190        200        210        220        230        240 
EMMWRICPAL AVGCTVVALV PPASPAPLLL AQLAGELGPF PGILNVLSGP ASLVPILASQ 

       250        260        270        280        290        300 
PGIRKVAFCG APEEGRALRR SLAGECAELG LALGTESLLL LTDTADVDSA VEGVVDAAWS 

       310        320        330        340        350        360 
DRGPGGLRLL IQESVWDEAM RRLQERMGRL RSGRGLDGAV DMGARGAAAC DLVQRFVREA 

       370        380        390        400        410        420 
QSQGAQVFQA GDVPSERPFY PPTLVSNLPP ASPCAQVEVP WPVVVASPFR TAKEALLVAN 

       430        440        450        460        470        480 
GTPRGGSASV WSERLGQALE LGYGLQVGTV WINAHGLRDP SVPTGGCKES GCSWHGGPDG 

       490        500        510        520        530        540 
LYEYLRPSGT PARLSCLSKN LNYDTFGLAV PSTLPAGPEI GPSPAPPYGL FVGGRFQAPG 

       550        560        570        580        590        600 
ARSSRPIRDS SGNLHGYVAE GGAKDIRGAV EAAHQAFPGW AGQSPGARAA LLWALAAALE 

       610        620        630        640        650        660 
RRKSTLASRL ERQGAELKAA EAEVELSARR LRAWGARVQA QGHTLQVAGL RGPVLRLREP 

       670        680        690        700        710        720 
LGVLAVVCPD EWPLLAFVSL LAPALAYGNT VVMVPSAACP LLALEVCQDM ATVFPAGLAN 

       730        740        750        760        770        780 
VVTGDRDHLT RCLALHQDVQ AMWYFGSAQG SQFVEWASAG NLKPVWASRG CPRAWDQEAE 

       790        800 
GAGPELGLRV ARTKALWLPM GD 

« Hide

Isoform 2 [UniParc].

Checksum: 7D022E99C1ACAAA7
Show »

FASTA30833,128
Isoform 3 [UniParc].

Checksum: AFE26F607346D768
Show »

FASTA75179,918

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS12766.1. [Q8IZ83-1]
CCDS46141.1. [Q8IZ83-3]
RefSeqNP_001138868.1. NM_001145396.1. [Q8IZ83-3]
NP_699160.2. NM_153329.3. [Q8IZ83-1]
UniGeneHs.719998.

3D structure databases

ProteinModelPortalQ8IZ83.
SMRQ8IZ83. Positions 12-494, 527-794.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125959. 9 interactions.
IntActQ8IZ83. 7 interactions.
MINTMINT-4999900.
STRING9606.ENSP00000293350.

PTM databases

PhosphoSiteQ8IZ83.

Polymorphism databases

DMDM269849532.

Proteomic databases

MaxQBQ8IZ83.
PaxDbQ8IZ83.
PRIDEQ8IZ83.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000293350; ENSP00000293350; ENSG00000161618. [Q8IZ83-1]
ENST00000455361; ENSP00000410142; ENSG00000161618. [Q8IZ83-3]
GeneID126133.
KEGGhsa:126133.
UCSCuc002pnt.3. human. [Q8IZ83-1]
uc010yar.2. human. [Q8IZ83-3]

Organism-specific databases

CTD126133.
GeneCardsGC19P049958.
H-InvDBHIX0202728.
HGNCHGNC:28114. ALDH16A1.
HPAHPA059488.
MIM613358. gene.
neXtProtNX_Q8IZ83.
PharmGKBPA134903503.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1012.
HOGENOMHOG000112558.
HOVERGENHBG069396.
InParanoidQ8IZ83.
OMAQESVWDE.
OrthoDBEOG7Q2N4V.
PhylomeDBQ8IZ83.
TreeFamTF329461.

Gene expression databases

ArrayExpressQ8IZ83.
BgeeQ8IZ83.
CleanExHS_ALDH16A1.
GenevestigatorQ8IZ83.

Family and domain databases

Gene3D3.40.309.10. 1 hit.
3.40.605.10. 2 hits.
InterProIPR016161. Ald_DH/histidinol_DH.
IPR016163. Ald_DH_C.
IPR016162. Ald_DH_N.
IPR011408. Aldehyde_DH.
IPR015590. Aldehyde_DH_dom.
[Graphical view]
PfamPF00171. Aldedh. 2 hits.
[Graphical view]
PIRSFPIRSF036490. Aldedh_dupl. 1 hit.
SUPFAMSSF53720. SSF53720. 2 hits.
ProtoNetSearch...

Other

GeneWikiALDH16A1.
GenomeRNAi126133.
NextBio81700.
PROQ8IZ83.
SOURCESearch...

Entry information

Entry nameA16A1_HUMAN
AccessionPrimary (citable) accession number: Q8IZ83
Secondary accession number(s): B4DLQ1 expand/collapse secondary AC list , C9JBH6, Q86YF0, Q8IYL4, Q8TEI8
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 24, 2009
Last modified: July 9, 2014
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM