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Protein

Aldehyde dehydrogenase family 1 member A3

Gene

ALDH1A3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (By similarity).By similarity

Catalytic activityi

An aldehyde + NAD(P)+ + H2O = a carboxylate + NAD(P)H.

Pathwayi: retinol metabolism

This protein is involved in the pathway retinol metabolism, which is part of Cofactor metabolism.
View all proteins of this organism that are known to be involved in the pathway retinol metabolism and in Cofactor metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei181Transition state stabilizerBy similarity1
Active sitei280Proton acceptorPROSITE-ProRule annotation1
Active sitei314NucleophilePROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi257 – 262NADBy similarity6

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS00013-MONOMER.
ZFISH:HS00013-MONOMER.
BRENDAi1.2.1.5. 2681.
ReactomeiR-HSA-5365859. RA biosynthesis pathway.
UniPathwayiUPA00912.

Names & Taxonomyi

Protein namesi
Recommended name:
Aldehyde dehydrogenase family 1 member A3 (EC:1.2.1.5)
Alternative name(s):
Aldehyde dehydrogenase 6
Retinaldehyde dehydrogenase 3
Short name:
RALDH-3
Short name:
RalDH3
Gene namesi
Name:ALDH1A3
Synonyms:ALDH6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:409. ALDH1A3.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Microphthalmia, isolated, 8 (MCOP8)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
See also OMIM:615113
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07233271V → M in MCOP8. 1 PublicationCorresponds to variant rs386834230dbSNPEnsembl.1
Natural variantiVAR_06932289R → C in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 PublicationCorresponds to variant rs397514652dbSNPEnsembl.1
Natural variantiVAR_069323145A → V in MCOP8. 1 PublicationCorresponds to variant rs754619607dbSNPEnsembl.1
Natural variantiVAR_072333174C → Y in MCOP8. 1 Publication1
Natural variantiVAR_072334355P → R in MCOP8. 1 Publication1
Natural variantiVAR_069324369I → F in MCOP8. 1 Publication1
Natural variantiVAR_072335382G → R in MCOP8. 1 Publication1
Natural variantiVAR_072336411E → K in MCOP8. 1 Publication1
Natural variantiVAR_072337466N → K in MCOP8. 1 Publication1
Natural variantiVAR_069325493A → P in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 PublicationCorresponds to variant rs397514653dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNETi220.
MalaCardsiALDH1A3.
MIMi615113. phenotype.
OpenTargetsiENSG00000184254.
Orphaneti2542. Isolated anophthalmia - microphthalmia.
PharmGKBiPA24694.

Chemistry databases

ChEMBLiCHEMBL3579.
DrugBankiDB00162. Vitamin A.

Polymorphism and mutation databases

BioMutaiALDH1A3.
DMDMi52788258.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000564782 – 512Aldehyde dehydrogenase family 1 member A3Add BLAST511

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP47895.
MaxQBiP47895.
PaxDbiP47895.
PeptideAtlasiP47895.
PRIDEiP47895.

PTM databases

iPTMnetiP47895.
PhosphoSitePlusiP47895.
SwissPalmiP47895.

Expressioni

Tissue specificityi

Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.

Gene expression databases

BgeeiENSG00000184254.
CleanExiHS_ALDH1A3.
ExpressionAtlasiP47895. baseline and differential.
GenevisibleiP47895. HS.

Organism-specific databases

HPAiHPA046271.
HPA064749.

Interactioni

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi106722. 8 interactors.
STRINGi9606.ENSP00000332256.

Chemistry databases

BindingDBiP47895.

Structurei

3D structure databases

ProteinModelPortaliP47895.
SMRiP47895.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the aldehyde dehydrogenase family.Curated

Phylogenomic databases

eggNOGiKOG2450. Eukaryota.
COG1012. LUCA.
GeneTreeiENSGT00760000118999.
HOGENOMiHOG000271505.
HOVERGENiHBG000097.
InParanoidiP47895.
KOiK00129.
OMAiRIYADAR.
OrthoDBiEOG091G05E8.
PhylomeDBiP47895.
TreeFamiTF300455.

Family and domain databases

Gene3Di3.40.309.10. 1 hit.
3.40.605.10. 1 hit.
InterProiIPR016161. Ald_DH/histidinol_DH.
IPR016163. Ald_DH_C.
IPR016160. Ald_DH_CS_CYS.
IPR029510. Ald_DH_CS_GLU.
IPR016162. Ald_DH_N.
IPR015590. Aldehyde_DH_dom.
[Graphical view]
PfamiPF00171. Aldedh. 1 hit.
[Graphical view]
SUPFAMiSSF53720. SSF53720. 1 hit.
PROSITEiPS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P47895-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA
60 70 80 90 100
TCNPSTREQI CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL
110 120 130 140 150
HQLADLVERD RATLAALETM DTGKPFLHAF FIDLEGCIRT LRYFAGWADK
160 170 180 190 200
IQGKTIPTDD NVVCFTRHEP IGVCGAITPW NFPLLMLVWK LAPALCCGNT
210 220 230 240 250
MVLKPAEQTP LTALYLGSLI KEAGFPPGVV NIVPGFGPTV GAAISSHPQI
260 270 280 290 300
NKIAFTGSTE VGKLVKEAAS RSNLKRVTLE LGGKNPCIVC ADADLDLAVE
310 320 330 340 350
CAHQGVFFNQ GQCCTAASRV FVEEQVYSEF VRRSVEYAKK RPVGDPFDVK
360 370 380 390 400
TEQGPQIDQK QFDKILELIE SGKKEGAKLE CGGSAMEDKG LFIKPTVFSE
410 420 430 440 450
VTDNMRIAKE EIFGPVQPIL KFKSIEEVIK RANSTDYGLT AAVFTKNLDK
460 470 480 490 500
ALKLASALES GTVWINCYNA LYAQAPFGGF KMSGNGRELG EYALAEYTEV
510
KTVTIKLGDK NP
Length:512
Mass (Da):56,108
Last modified:September 27, 2004 - v2
Checksum:i1BFCF4F56F0FE89A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti15R → G in AAA79036 (PubMed:7698756).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07233271V → M in MCOP8. 1 PublicationCorresponds to variant rs386834230dbSNPEnsembl.1
Natural variantiVAR_06932289R → C in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 PublicationCorresponds to variant rs397514652dbSNPEnsembl.1
Natural variantiVAR_069323145A → V in MCOP8. 1 PublicationCorresponds to variant rs754619607dbSNPEnsembl.1
Natural variantiVAR_072333174C → Y in MCOP8. 1 Publication1
Natural variantiVAR_072334355P → R in MCOP8. 1 Publication1
Natural variantiVAR_069324369I → F in MCOP8. 1 Publication1
Natural variantiVAR_072335382G → R in MCOP8. 1 Publication1
Natural variantiVAR_019706386M → V.Corresponds to variant rs3803430dbSNPEnsembl.1
Natural variantiVAR_072336411E → K in MCOP8. 1 Publication1
Natural variantiVAR_072337466N → K in MCOP8. 1 Publication1
Natural variantiVAR_069325493A → P in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 PublicationCorresponds to variant rs397514653dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U07919 mRNA. Translation: AAA79036.1.
BC069274 mRNA. Translation: AAH69274.1.
CCDSiCCDS10389.1.
PIRiA55684.
RefSeqiNP_000684.2. NM_000693.3.
NP_001280744.1. NM_001293815.1.
UniGeneiHs.459538.
Hs.612155.

Genome annotation databases

EnsembliENST00000329841; ENSP00000332256; ENSG00000184254.
GeneIDi220.
KEGGihsa:220.
UCSCiuc002bwn.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U07919 mRNA. Translation: AAA79036.1.
BC069274 mRNA. Translation: AAH69274.1.
CCDSiCCDS10389.1.
PIRiA55684.
RefSeqiNP_000684.2. NM_000693.3.
NP_001280744.1. NM_001293815.1.
UniGeneiHs.459538.
Hs.612155.

3D structure databases

ProteinModelPortaliP47895.
SMRiP47895.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106722. 8 interactors.
STRINGi9606.ENSP00000332256.

Chemistry databases

BindingDBiP47895.
ChEMBLiCHEMBL3579.
DrugBankiDB00162. Vitamin A.

PTM databases

iPTMnetiP47895.
PhosphoSitePlusiP47895.
SwissPalmiP47895.

Polymorphism and mutation databases

BioMutaiALDH1A3.
DMDMi52788258.

Proteomic databases

EPDiP47895.
MaxQBiP47895.
PaxDbiP47895.
PeptideAtlasiP47895.
PRIDEiP47895.

Protocols and materials databases

DNASUi220.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329841; ENSP00000332256; ENSG00000184254.
GeneIDi220.
KEGGihsa:220.
UCSCiuc002bwn.5. human.

Organism-specific databases

CTDi220.
DisGeNETi220.
GeneCardsiALDH1A3.
H-InvDBHIX0026851.
HGNCiHGNC:409. ALDH1A3.
HPAiHPA046271.
HPA064749.
MalaCardsiALDH1A3.
MIMi600463. gene.
615113. phenotype.
neXtProtiNX_P47895.
OpenTargetsiENSG00000184254.
Orphaneti2542. Isolated anophthalmia - microphthalmia.
PharmGKBiPA24694.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2450. Eukaryota.
COG1012. LUCA.
GeneTreeiENSGT00760000118999.
HOGENOMiHOG000271505.
HOVERGENiHBG000097.
InParanoidiP47895.
KOiK00129.
OMAiRIYADAR.
OrthoDBiEOG091G05E8.
PhylomeDBiP47895.
TreeFamiTF300455.

Enzyme and pathway databases

UniPathwayiUPA00912.
BioCyciMetaCyc:HS00013-MONOMER.
ZFISH:HS00013-MONOMER.
BRENDAi1.2.1.5. 2681.
ReactomeiR-HSA-5365859. RA biosynthesis pathway.

Miscellaneous databases

ChiTaRSiALDH1A3. human.
GeneWikiiALDH1A3.
GenomeRNAii220.
PROiP47895.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184254.
CleanExiHS_ALDH1A3.
ExpressionAtlasiP47895. baseline and differential.
GenevisibleiP47895. HS.

Family and domain databases

Gene3Di3.40.309.10. 1 hit.
3.40.605.10. 1 hit.
InterProiIPR016161. Ald_DH/histidinol_DH.
IPR016163. Ald_DH_C.
IPR016160. Ald_DH_CS_CYS.
IPR029510. Ald_DH_CS_GLU.
IPR016162. Ald_DH_N.
IPR015590. Aldehyde_DH_dom.
[Graphical view]
PfamiPF00171. Aldedh. 1 hit.
[Graphical view]
SUPFAMiSSF53720. SSF53720. 1 hit.
PROSITEiPS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAL1A3_HUMAN
AccessioniPrimary (citable) accession number: P47895
Secondary accession number(s): Q6NT64
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: September 27, 2004
Last modified: November 2, 2016
This is version 155 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.