Q8IZ83 (A16A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Aldehyde dehydrogenase family 16 member A1

Gene names

Name:

ALDH16A1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	802 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 802	802	Aldehyde dehydrogenase family 16 member A1		PRO_0000312986
Natural variations
	Alternative sequence	254 – 308	55	EGRAL…PGGLR → VPSGQGSWRNAAGGRKAPPA AELGGVPRKGVPFDGAWRES VRSWAWRWGRSRCCC in isoform 2.		VSP_029982
	Alternative sequence	254 – 304	51	Missing in isoform 3.		VSP_043280
	Alternative sequence	309 – 802	494	Missing in isoform 2.		VSP_029983
	Natural variant	110	1	E → K. Corresponds to variant rs3745312 [ dbSNP | Ensembl ].		VAR_037638
	Natural variant	227	1	L → V. Ref.1 Ref.4 Corresponds to variant rs1320303 [ dbSNP | Ensembl ].		VAR_037639

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 24, 2009. Version 2. Checksum: 2820628CD0EF5823	FASTA	802	85,127
	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
	Isoform 2 [UniParc]. Checksum: 7D022E99C1ACAAA7	FASTA	308	33,128
	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 APEVPSGQGS WRNAAGGRKA PPAAELGGVP RKGVPFDGAW RESVRSWAWR WGRSRCCC
	Isoform 3 [UniParc]. Checksum: AFE26F607346D768	FASTA	751	79,918
	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 APEGGLRLLI QESVWDEAMR RLQERMGRLR SGRGLDGAVD MGARGAAACD 310 320 330 340 350 360 LVQRFVREAQ SQGAQVFQAG DVPSERPFYP PTLVSNLPPA SPCAQVEVPW PVVVASPFRT 370 380 390 400 410 420 AKEALLVANG TPRGGSASVW SERLGQALEL GYGLQVGTVW INAHGLRDPS VPTGGCKESG 430 440 450 460 470 480 CSWHGGPDGL YEYLRPSGTP ARLSCLSKNL NYDTFGLAVP STLPAGPEIG PSPAPPYGLF 490 500 510 520 530 540 VGGRFQAPGA RSSRPIRDSS GNLHGYVAEG GAKDIRGAVE AAHQAFPGWA GQSPGARAAL 550 560 570 580 590 600 LWALAAALER RKSTLASRLE RQGAELKAAE AEVELSARRL RAWGARVQAQ GHTLQVAGLR 610 620 630 640 650 660 GPVLRLREPL GVLAVVCPDE WPLLAFVSLL APALAYGNTV VMVPSAACPL LALEVCQDMA 670 680 690 700 710 720 TVFPAGLANV VTGDRDHLTR CLALHQDVQA MWYFGSAQGS QFVEWASAGN LKPVWASRGC 730 740 750 PRAWDQEAEG AGPELGLRVA RTKALWLPMG D

References

	« Hide 'large scale' referencesShow '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. , 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]	"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].

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.
IPI	IPI00217920. IPI00646424. IPI00910572.
RefSeq	NP_001138868.1. NM_001145396.1. NP_699160.2. NM_153329.3.
UniGene	Hs.719998.
3D structure databases
ProteinModelPortal	Q8IZ83.
SMR	Q8IZ83. Positions 25-494, 531-765.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IZ83. 7 interactions.
STRING	9606.ENSP00000293350.
PTM databases
PhosphoSite	Q8IZ83.
Polymorphism databases
DMDM	269849532.
Proteomic databases
PaxDb	Q8IZ83.
PRIDE	Q8IZ83.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000293350; ENSP00000293350; ENSG00000161618. ENST00000455361; ENSP00000410142; ENSG00000161618.
GeneID	126133.
KEGG	hsa:126133.
UCSC	uc002pnt.3. human.
Organism-specific databases
CTD	126133.
GeneCards	GC19P049958.
H-InvDB	HIX0202728.
HGNC	HGNC:28114. ALDH16A1.
MIM	613358. gene.
neXtProt	NX_Q8IZ83.
PharmGKB	PA134903503.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1012.
HOGENOM	HOG000112558.
HOVERGEN	HBG069396.
InParanoid	Q8IZ83.
OMA	LALEVCQ.
OrthoDB	EOG4CNQQG.
PhylomeDB	Q8IZ83.
Gene expression databases
ArrayExpress	Q8IZ83.
Bgee	Q8IZ83.
CleanEx	HS_ALDH16A1.
Genevestigator	Q8IZ83.
Family and domain databases
Gene3D	3.40.309.10. 1 hit. 3.40.605.10. 2 hits.
InterPro	IPR016161. Ald_DH/histidinol_DH. IPR016163. Ald_DH_C. IPR016162. Ald_DH_N. IPR011408. Aldehyde_DH. IPR015590. Aldehyde_DH_dom. [Graphical view]
Pfam	PF00171. Aldedh. 2 hits. [Graphical view]
PIRSF	PIRSF036490. Aldedh_dupl. 1 hit.
SUPFAM	SSF53720. Aldehyde_DH/Histidinol_DH. 2 hits.
PROSITE	PS00070. ALDEHYDE_DEHYDR_CYS. False negative. PS00687. ALDEHYDE_DEHYDR_GLU. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	126133.
NextBio	81700.
SOURCE	Search...

Entry information

Entry name

A16A1_HUMAN

Accession

Primary (citable) accession number: Q8IZ83
Secondary accession number(s): B4DLQ1 , C9JBH6, Q86YF0, Q8IYL4, Q8TEI8

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	November 24, 2009
Last modified:	May 1, 2013
This is version 84 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.