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Protein

Alpha-aminoadipic semialdehyde dehydrogenase

Gene

ALDH7A1

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

Functioni

Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.2 Publications

Catalytic activityi

(S)-2-amino-6-oxohexanoate + NAD(P)+ + H2O = L-2-aminoadipate + NAD(P)H.
Betaine aldehyde + NAD+ + H2O = betaine + NADH.
An aldehyde + NAD+ + H2O = a carboxylate + NADH.

Kineticsi

  1. KM=28.5 µM for nonanal1 Publication
  2. KM=5.3 µM for trans-2-nonenal1 Publication
  3. KM=39.1 µM for hexanal1 Publication
  4. KM=17.5 µM for octanal1 Publication
  5. KM=41.1 µM for betaine aldehyde1 Publication
  6. KM=169 µM for L-2-aminoadipate 6-semialdehyde1 Publication
  7. KM=530.2 µM for benzaldehyde1 Publication
  8. KM=647.4 µM for propanal1 Publication
  9. KM=7374.3 µM for glyceraldehyde1 Publication
  1. Vmax=364.9 nmol/min/mg enzyme toward nonanal1 Publication
  2. Vmax=34.9 nmol/min/mg enzyme toward trans-2-nonenal1 Publication
  3. Vmax=243.3 nmol/min/mg enzyme toward hexanal1 Publication
  4. Vmax=72.3 nmol/min/mg enzyme toward octanal1 Publication
  5. Vmax=101.4 nmol/min/mg enzyme toward betaine aldehyde1 Publication
  6. Vmax=276.2 nmol/min/mg enzyme toward L-2-aminoadipate 6-semialdehyde1 Publication
  7. Vmax=125.2 nmol/min/mg enzyme toward benzaldehyde1 Publication
  8. Vmax=69.9 nmol/min/mg enzyme toward propanal1 Publication
  9. Vmax=174 nmol/min/mg enzyme toward glyceraldehyde1 Publication

Pathwayi: betaine biosynthesis via choline pathway

This protein is involved in step 1 of the subpathway that synthesizes betaine from betaine aldehyde.
Proteins known to be involved in this subpathway in this organism are:
  1. Alpha-aminoadipic semialdehyde dehydrogenase (ALDH7A1)
This subpathway is part of the pathway betaine biosynthesis via choline pathway, which is itself part of Amine and polyamine biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes betaine from betaine aldehyde, the pathway betaine biosynthesis via choline pathway and in Amine and polyamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei195Transition state stabilizerBy similarity1
Active sitei296Proton acceptorPROSITE-ProRule annotation1
Active sitei330Nucleophile1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi274 – 279NADBy similarity6

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS09157-MONOMER.
ZFISH:HS09157-MONOMER.
BRENDAi1.2.1.31. 2681.
ReactomeiR-HSA-6798163. Choline catabolism.
R-HSA-71064. Lysine catabolism.
SABIO-RKP49419.
UniPathwayiUPA00529; UER00386.

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-aminoadipic semialdehyde dehydrogenase (EC:1.2.1.31)
Short name:
Alpha-AASA dehydrogenase
Alternative name(s):
Aldehyde dehydrogenase family 7 member A1 (EC:1.2.1.3)
Antiquitin-1
Betaine aldehyde dehydrogenase (EC:1.2.1.8)
Delta1-piperideine-6-carboxylate dehydrogenase
Short name:
P6c dehydrogenase
Gene namesi
Name:ALDH7A1
Synonyms:ATQ1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:877. ALDH7A1.

Subcellular locationi

Isoform 1 :

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • mitochondrial matrix Source: Reactome
  • mitochondrion Source: HPA
  • nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Pyridoxine-dependent epilepsy (PDE)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.
See also OMIM:266100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031718199A → V in PDE. 1 PublicationCorresponds to variant rs121912709dbSNPEnsembl.1
Natural variantiVAR_069184202G → V in PDE. 1 Publication1
Natural variantiVAR_069185291G → E in PDE. 1 Publication1
Natural variantiVAR_069186301N → I in PDE. 1 PublicationCorresponds to variant rs121912711dbSNPEnsembl.1
Natural variantiVAR_069187335R → Q in PDE. 1 PublicationCorresponds to variant rs754449549dbSNPEnsembl.1
Natural variantiVAR_069188395V → G in PDE. 1 Publication1
Natural variantiVAR_031719427E → Q in PDE. 2 PublicationsCorresponds to variant rs121912707dbSNPEnsembl.1
Natural variantiVAR_069189458S → N in PDE. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi501.
MalaCardsiALDH7A1.
MIMi266100. phenotype.
OpenTargetsiENSG00000164904.
Orphaneti3006. Pyridoxine-dependent epilepsy.
PharmGKBiPA24704.

Polymorphism and mutation databases

BioMutaiALDH7A1.
DMDMi294862544.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 26MitochondrionSequence analysisAdd BLAST26
ChainiPRO_000005649027 – 539Alpha-aminoadipic semialdehyde dehydrogenaseAdd BLAST513
Isoform 2 (identifier: P49419-2)
Initiator methionineiRemovedCombined sources

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei94N6-acetyllysine; alternateBy similarity1
Modified residuei94N6-succinyllysine; alternateBy similarity1
Modified residuei462N6-acetyllysineBy similarity1
Modified residuei500N6-acetyllysineBy similarity1
Modified residuei537N6-succinyllysineBy similarity1
Isoform 2 (identifier: P49419-2)
Modified residuei2N-acetylserineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP49419.
MaxQBiP49419.
PaxDbiP49419.
PeptideAtlasiP49419.
PRIDEiP49419.

2D gel databases

UCD-2DPAGEP49419.

PTM databases

iPTMnetiP49419.
PhosphoSitePlusiP49419.
SwissPalmiP49419.

Expressioni

Tissue specificityi

Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.2 Publications

Gene expression databases

BgeeiENSG00000164904.
CleanExiHS_ALDH7A1.
ExpressionAtlasiP49419. baseline and differential.
GenevisibleiP49419. HS.

Organism-specific databases

HPAiHPA023296.

Interactioni

Subunit structurei

Homotetramer.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
EPS8Q129292EBI-726842,EBI-375576

Protein-protein interaction databases

BioGridi106990. 37 interactors.
IntActiP49419. 11 interactors.
MINTiMINT-1421491.
STRINGi9606.ENSP00000387123.

Structurei

Secondary structure

1539
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi33 – 35Combined sources3
Helixi37 – 45Combined sources9
Beta strandi49 – 52Combined sources4
Beta strandi54 – 60Combined sources7
Beta strandi65 – 69Combined sources5
Turni71 – 73Combined sources3
Beta strandi76 – 81Combined sources6
Helixi85 – 102Combined sources18
Helixi107 – 123Combined sources17
Helixi125 – 135Combined sources11
Helixi140 – 160Combined sources21
Turni161 – 163Combined sources3
Beta strandi167 – 169Combined sources3
Beta strandi176 – 184Combined sources9
Beta strandi186 – 191Combined sources6
Beta strandi194 – 196Combined sources3
Helixi199 – 210Combined sources12
Beta strandi214 – 218Combined sources5
Helixi221 – 223Combined sources3
Helixi224 – 240Combined sources17
Helixi245 – 247Combined sources3
Beta strandi248 – 251Combined sources4
Helixi255 – 263Combined sources9
Beta strandi268 – 274Combined sources7
Helixi276 – 288Combined sources13
Beta strandi292 – 296Combined sources5
Beta strandi301 – 305Combined sources5
Helixi311 – 323Combined sources13
Helixi324 – 327Combined sources4
Beta strandi333 – 339Combined sources7
Turni340 – 342Combined sources3
Helixi343 – 355Combined sources13
Helixi375 – 390Combined sources16
Beta strandi394 – 397Combined sources4
Beta strandi403 – 407Combined sources5
Beta strandi412 – 416Combined sources5
Helixi422 – 425Combined sources4
Beta strandi429 – 438Combined sources10
Helixi441 – 449Combined sources9
Beta strandi451 – 453Combined sources3
Beta strandi455 – 460Combined sources6
Helixi464 – 471Combined sources8
Beta strandi478 – 485Combined sources8
Beta strandi494 – 496Combined sources3
Helixi500 – 502Combined sources3
Turni504 – 506Combined sources3
Beta strandi507 – 509Combined sources3
Helixi512 – 516Combined sources5
Beta strandi517 – 525Combined sources9
Helixi533 – 535Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2J6LX-ray1.30A/B/C/D/E/F/G/H30-527[»]
4X0TX-ray2.40A/B/C/D29-539[»]
4X0UX-ray1.95A/B/C/D29-539[»]
4ZUKX-ray2.00A/B/C/D/E/F/G/H29-539[»]
4ZULX-ray1.76A/B/C/D/E/F/G/H29-539[»]
4ZVWX-ray2.40A/B/C/D/E/F/G/H29-539[»]
4ZVXX-ray1.90A/B29-539[»]
4ZVYX-ray1.90A/B29-539[»]
ProteinModelPortaliP49419.
SMRiP49419.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP49419.

Family & Domainsi

Sequence similaritiesi

Belongs to the aldehyde dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2453. Eukaryota.
COG1012. LUCA.
GeneTreeiENSGT00760000118999.
HOGENOMiHOG000271511.
HOVERGENiHBG050485.
InParanoidiP49419.
KOiK14085.
OMAiEGYESGC.
OrthoDBiEOG091G058Y.
PhylomeDBiP49419.
TreeFamiTF300388.

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.
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.
PROSITEiPS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P49419-1) [UniParc]FASTAAdd to basket
Also known as: hALDH7A1_v11 Publication

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
MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE
60 70 80 90 100
NEGVYNGSWG GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK
110 120 130 140 150
IWADIPAPKR GEIVRQIGDA LREKIQVLGS LVSLEMGKIL VEGVGEVQEY
160 170 180 190 200
VDICDYAVGL SRMIGGPILP SERSGHALIE QWNPVGLVGI ITAFNFPVAV
210 220 230 240 250
YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED NKLPGAICSL
260 270 280 290 300
TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
310 320 330 340 350
NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLFIHE SIHDEVVNRL
360 370 380 390 400
KKAYAQIRVG NPWDPNVLYG PLHTKQAVSM FLGAVEEAKK EGGTVVYGGK
410 420 430 440 450
VMDRPGNYVE PTIVTGLGHD ASIAHTETFA PILYVFKFKN EEEVFAWNNE
460 470 480 490 500
VKQGLSSSIF TKDLGRIFRW LGPKGSDCGI VNVNIPTSGA EIGGAFGGEK
510 520 530
HTGGGRESGS DAWKQYMRRS TCTINYSKDL PLAQGIKFQ
Length:539
Mass (Da):58,487
Last modified:April 20, 2010 - v5
Checksum:i05385562F71312B6
GO
Isoform 2 (identifier: P49419-2) [UniParc]FASTAAdd to basket
Also known as: hALDH7A1_v21 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Show »
Length:511
Mass (Da):55,366
Checksum:i08F6F7672C948E2C
GO
Isoform 4 (identifier: P49419-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     337-400: Missing.

Note: No experimental confirmation available.
Show »
Length:475
Mass (Da):51,411
Checksum:i6CE7B327556B0A90
GO

Sequence cautioni

The sequence AAC51935 differs from that shown. Reason: Frameshift at positions 233 and 268.Curated
The sequence AAH02515 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH71712 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH73174 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG35366 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG58439 differs from that shown. Aberrant splicing.Curated
The sequence BAG59812 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti236K → R in BAG59812 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031718199A → V in PDE. 1 PublicationCorresponds to variant rs121912709dbSNPEnsembl.1
Natural variantiVAR_069184202G → V in PDE. 1 Publication1
Natural variantiVAR_069185291G → E in PDE. 1 Publication1
Natural variantiVAR_069186301N → I in PDE. 1 PublicationCorresponds to variant rs121912711dbSNPEnsembl.1
Natural variantiVAR_069187335R → Q in PDE. 1 PublicationCorresponds to variant rs754449549dbSNPEnsembl.1
Natural variantiVAR_069188395V → G in PDE. 1 Publication1
Natural variantiVAR_028202412T → A.Corresponds to variant rs2306618dbSNPEnsembl.1
Natural variantiVAR_031719427E → Q in PDE. 2 PublicationsCorresponds to variant rs121912707dbSNPEnsembl.1
Natural variantiVAR_028203439K → Q.1 PublicationCorresponds to variant rs12514417dbSNPEnsembl.1
Natural variantiVAR_069189458S → N in PDE. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0389871 – 28Missing in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_045905337 – 400Missing in isoform 4. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S74728 mRNA. Translation: AAB31966.1.
AK312459 mRNA. Translation: BAG35366.1. Different initiation.
AK295526 mRNA. Translation: BAG58439.1. Sequence problems.
AK297365 mRNA. Translation: BAG59812.1. Different initiation.
AC093535 Genomic DNA. No translation available.
AC099513 Genomic DNA. No translation available.
BC002515 mRNA. Translation: AAH02515.3. Different initiation.
BC071712 mRNA. Translation: AAH71712.1. Different initiation.
BC073174 mRNA. Translation: AAH73174.1. Different initiation.
AF002696 Genomic DNA. Translation: AAC51935.1. Sequence problems.
CCDSiCCDS4137.2. [P49419-1]
CCDS56380.2. [P49419-4]
PIRiA54676.
RefSeqiNP_001173.2. NM_001182.4. [P49419-1]
NP_001188306.1. NM_001201377.1. [P49419-2]
NP_001189333.2. NM_001202404.1. [P49419-4]
UniGeneiHs.483239.

Genome annotation databases

EnsembliENST00000409134; ENSP00000387123; ENSG00000164904. [P49419-1]
ENST00000553117; ENSP00000448593; ENSG00000164904. [P49419-4]
GeneIDi501.
KEGGihsa:501.
UCSCiuc003ktx.5. human. [P49419-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S74728 mRNA. Translation: AAB31966.1.
AK312459 mRNA. Translation: BAG35366.1. Different initiation.
AK295526 mRNA. Translation: BAG58439.1. Sequence problems.
AK297365 mRNA. Translation: BAG59812.1. Different initiation.
AC093535 Genomic DNA. No translation available.
AC099513 Genomic DNA. No translation available.
BC002515 mRNA. Translation: AAH02515.3. Different initiation.
BC071712 mRNA. Translation: AAH71712.1. Different initiation.
BC073174 mRNA. Translation: AAH73174.1. Different initiation.
AF002696 Genomic DNA. Translation: AAC51935.1. Sequence problems.
CCDSiCCDS4137.2. [P49419-1]
CCDS56380.2. [P49419-4]
PIRiA54676.
RefSeqiNP_001173.2. NM_001182.4. [P49419-1]
NP_001188306.1. NM_001201377.1. [P49419-2]
NP_001189333.2. NM_001202404.1. [P49419-4]
UniGeneiHs.483239.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2J6LX-ray1.30A/B/C/D/E/F/G/H30-527[»]
4X0TX-ray2.40A/B/C/D29-539[»]
4X0UX-ray1.95A/B/C/D29-539[»]
4ZUKX-ray2.00A/B/C/D/E/F/G/H29-539[»]
4ZULX-ray1.76A/B/C/D/E/F/G/H29-539[»]
4ZVWX-ray2.40A/B/C/D/E/F/G/H29-539[»]
4ZVXX-ray1.90A/B29-539[»]
4ZVYX-ray1.90A/B29-539[»]
ProteinModelPortaliP49419.
SMRiP49419.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106990. 37 interactors.
IntActiP49419. 11 interactors.
MINTiMINT-1421491.
STRINGi9606.ENSP00000387123.

PTM databases

iPTMnetiP49419.
PhosphoSitePlusiP49419.
SwissPalmiP49419.

Polymorphism and mutation databases

BioMutaiALDH7A1.
DMDMi294862544.

2D gel databases

UCD-2DPAGEP49419.

Proteomic databases

EPDiP49419.
MaxQBiP49419.
PaxDbiP49419.
PeptideAtlasiP49419.
PRIDEiP49419.

Protocols and materials databases

DNASUi501.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409134; ENSP00000387123; ENSG00000164904. [P49419-1]
ENST00000553117; ENSP00000448593; ENSG00000164904. [P49419-4]
GeneIDi501.
KEGGihsa:501.
UCSCiuc003ktx.5. human. [P49419-1]

Organism-specific databases

CTDi501.
DisGeNETi501.
GeneCardsiALDH7A1.
GeneReviewsiALDH7A1.
HGNCiHGNC:877. ALDH7A1.
HPAiHPA023296.
MalaCardsiALDH7A1.
MIMi107323. gene.
266100. phenotype.
neXtProtiNX_P49419.
OpenTargetsiENSG00000164904.
Orphaneti3006. Pyridoxine-dependent epilepsy.
PharmGKBiPA24704.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2453. Eukaryota.
COG1012. LUCA.
GeneTreeiENSGT00760000118999.
HOGENOMiHOG000271511.
HOVERGENiHBG050485.
InParanoidiP49419.
KOiK14085.
OMAiEGYESGC.
OrthoDBiEOG091G058Y.
PhylomeDBiP49419.
TreeFamiTF300388.

Enzyme and pathway databases

UniPathwayiUPA00529; UER00386.
BioCyciMetaCyc:HS09157-MONOMER.
ZFISH:HS09157-MONOMER.
BRENDAi1.2.1.31. 2681.
ReactomeiR-HSA-6798163. Choline catabolism.
R-HSA-71064. Lysine catabolism.
SABIO-RKP49419.

Miscellaneous databases

ChiTaRSiALDH7A1. human.
EvolutionaryTraceiP49419.
GeneWikiiALDH7A1.
GenomeRNAii501.
PROiP49419.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164904.
CleanExiHS_ALDH7A1.
ExpressionAtlasiP49419. baseline and differential.
GenevisibleiP49419. 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.
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.
PROSITEiPS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAL7A1_HUMAN
AccessioniPrimary (citable) accession number: P49419
Secondary accession number(s): B2R669
, B4DIC7, B4DMA0, E7EPT3, O14619, Q6IPU8, Q9BUL4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: April 20, 2010
Last modified: November 2, 2016
This is version 176 of the entry and version 5 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. 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.