H-Inv ID |
HIT000322402 |
H-Inv cluster ID |
HIX0016826
|
H-Inv protein ID |
HIP000113636
|
Accession number |
X60364.1
|
CAGE tag ID |
NA
|
EST ID |
NA
|
Genomic location
|
Chromosome |
X |
Location |
Xp11.21
|
Position |
55035488-
55057411
|
Strand |
-
|
Transcript feature
|
Representative transcript;
Splicing isoform
|
Coding potential
|
Protein coding;
|
Definition |
5-aminolevulinate synthase, erythroid-specific, mitochondrial; ALAS-E; EC=2.3.1.37; 5-aminolevulinic acid synthase 2; Delta-ALA synthase 2; Delta-aminolevulinate synthase 2; Precursor; |
Similarity category
|
Category: Identical to known human protein(Category I).
|
Identical to known human protein (P22557)
[Identity/coverage = 100.0%/100.0%] to
Homo sapiens (Human). protein.
|
Gene family / group |
NA
|
Gene symbol/name |
HGNC symbol |
ALAS2
|
HGNC aliases |
"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)", "aminolevulinate, delta-, synthase 2"
|
HGNC name |
5'-aminolevulinate synthase 2
|
DDBJ |
ALAS
|
UniProt |
ALAS2
|
EC number |
EC 2.3.1.375-aminolevulinate synthase;
|
KEGG metabolic pathway |
00260
:Glycine, serine and threonine metabolism;
|
PubMed ID |
1570328;
2050125;
2263504;
8107717;
9642238;
9858242;
10029606;
10577279;
12031592;
12393718;
14643893;
14702039;
15772651;
18760763;
21252495;
21309041;
21653323;
ALL;
|
Related H-InvDB links |
Similarity Search Tool
|
Database links |
RefSeq |
NA
|
Ensembl |
NA
|
Entrez Gene |
Entrez Gene ID:212;
|
KEGG GENES |
KEGG GENES(212);
|
GeneCard |
ALAS2;
*GeneCards is provided free to academic non-profit institutions.
|
etc |
Human-Gene diversity Of Life-style related Diseases;
|
Curation status |
Human curated
|
Notes |
NA
|