KEGG H.sapiens: 8659

Homo sapiens (human): 8659

Entry

8659 CDS H.sapiens

Gene name ALDH4A1

Definition aldehyde dehydrogenase 4 family, member A1 (EC:1.5.1.12)

Orthology K00294 1-pyrroline-5-carboxylate dehydrogenase [EC:1.5.1.12]

Pathway hsa00250 Alanine, aspartate and glutamate metabolism
hsa00330 Arginine and proline metabolism
hsa01100 Metabolic pathways

Disease H00190 Hyperprolinemia (HP)

Class Metabolism; Amino Acid Metabolism; Alanine, aspartate and glutamate
metabolism [PATH:hsa00250]
Metabolism; Amino Acid Metabolism; Arginine and proline metabolism
[PATH:hsa00330]

SSDB

Motif Pfam: Aldedh
PROSITE: ALDEHYDE_DEHYDR_CYS ALDEHYDE_DEHYDR_GLU

Other DBs NCBI-GI: 238859541
NCBI-GeneID: 8659
OMIM: 606811
HGNC: 406
HPRD: 06009
Ensembl: ENSG00000159423
UniProt: B4DGE4 P30038

Position 1p36

AA seq 503 aa
MEAIPCVVGDEEVWTSDVQYQVSPFNHGHKVAKFCYADKSLLNKAIEAALAARKEWDLKP
IADRAQIFLKAADMLSGPRRAEILAKTMVGQGKTVIQAEIDAAAELIDFFRFNAKYAVEL
EGQQPISVPPSTNSTVYRGLEGFVAAISPFNFTAIGGNLAGAPALMGNVVLWKPSDTAML
ASYAVYRILREAGLPPNIIQFVPADGPLFGDTVTSSEHLCGINFTGSVPTFKHLWKQVAQ
NLDRFHTFPRLAGECGGKNFHFVHRSADVESVVSGTLRSAFEYGGQKCSACSRLYVPHSL
WPQIKGRLLEEHSRIKVGDPAEDFGTFFSAVIDAKSFARIKKWLEHARSSPSLTILAGGK
CDDSVGYFVEPCIVESKDPQEPIMKEEIFGPVLSVYVYPDDKYKETLQLVDSTTSYGLTG
AVFSQDKDVVQEATKVLRNAAGNFYINDKSTGSIVGQQPFGGARASGTNDKPGGPHYILR
WTSPQVIKETHKPLGDWSYAYMQ

NT seq 1512 nt +upstreamnt +downstreamnt
atggaagccatcccatgcgtggtgggggatgaggaggtgtggacgtcggacgtgcagtac
caagtgtcgccttttaaccatggacataaggtggccaagttctgttatgcagacaagagc
ctgctcaacaaagccattgaggctgccctggctgcccggaaagagtgggacctgaagcct
attgcagaccgggcccagatcttcctgaaggcggcagacatgctgagtgggccgcgcagg
gctgagatcctcgccaagaccatggtgggacagggtaagaccgtgatccaagcggagatt
gacgctgcagcggaactcatcgacttcttccggttcaatgccaagtatgcggtggagctg
gaggggcagcagcccatcagcgtgcccccgagcaccaacagcacggtgtaccggggtctg
gagggcttcgtggcggccatctcgccctttaacttcactgcaatcggcggcaacctggcg
ggggcaccggccctgatgggcaacgtggtcctatggaagcccagtgacactgccatgctg
gccagctatgctgtctaccgcatccttcgggaggctggcctgccccccaacatcatccag
tttgtgccagctgatgggcccctatttggggacactgtcaccagctcagagcacctctgt
ggcatcaacttcacaggcagtgtgcccaccttcaaacacctgtggaagcaggtggcccag
aacctggaccggttccacaccttcccacgcctggctggagagtgcggcggaaagaacttc
cacttcgtgcaccgctcggccgacgtggagagcgtggtgagcgggaccctccgctcagcc
ttcgagtacggtggccagaagtgttccgcgtgctcgcgtctctacgtgccgcactcgctg
tggccgcagatcaaagggcggctgctggaggagcacagtcggatcaaagtgggcgaccct
gcagaggattttgggaccttcttctctgcagtgattgatgccaagtcctttgcccgtatc
aagaagtggctggagcacgcacgctcctcacccagcctcaccatcctggccgggggcaag
tgtgatgactccgtgggctactttgtggagccctgcatcgtggagagcaaggaccctcag
gagcccatcatgaaggaggagatcttcgggcctgtactgtctgtgtacgtctacccggat
gacaagtacaaggagacgctgcagctggttgacagcaccaccagctatggcctcacgggg
gcagtgttctcccaggataaggacgtcgtgcaggaggccacaaaggtgctgaggaatgct
gccggcaacttctacatcaacgacaagtccactggctcgatagtgggccagcagcccttt
gggggggcccgagcctctggaaccaatgacaagccagggggcccacactacatcctgcgc
tggacgtcgccgcaggtcatcaaggagacacataagcccctgggggactggagctacgcg
tacatgcagtga

All links

Pathway (3)   
   KEGG PATHWAY (3)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (9)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (9)   
   UniProt (2)   
   RefSeq(pep) (3)   
   IPI (4)   
DNA sequence (11)   
   RefSeq(nuc) (3)   
   GenBank (4)   
   EMBL (4)   
Protein domain (3)   
   Pfam (1)   
   PROSITE (2)   
All databases (45)

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