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PXLP-K391-ALAS2 [mitochondrial matrix]
Stable Identifier
R-HSA-1022083
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
5-aminolevulinate synthase, erythroid (pyridoxal phosphate cofactor), 5-aminolevulinate synthase, erythroid-specific, mitochondrial precursor, HEM0_HUMAN, ALAS2
Locations in the PathwayBrowser
Expand all
Metabolism (Homo sapiens)
Metabolism of porphyrins (Homo sapiens)
Heme biosynthesis (Homo sapiens)
ALAS condenses SUCC-CoA and Gly to form dALA (Homo sapiens)
ALAS1,2 [mitochondrial matrix] (Homo sapiens)
ALAS2 homodimer (pyridoxal phosphate cofactor) [mitochondrial matrix] (Homo sapiens)
PXLP-K391-ALAS2 [mitochondrial matrix] (Homo sapiens)
External Reference Information
External Reference
UniProt:P22557 ALAS2
Gene Names
ALAS2, ALASE, ASB
Chain
transit peptide:1-49, chain:50-587
Reference Genes
BioGPS Gene:212 ALAS2
COSMIC (genes):ALAS2 ALAS2
CTD Gene:212 ALAS2
dbSNP Gene:212 ALAS2
ENSEMBL:ENSG00000158578 ALAS2
HGNC:397 ALAS2
KEGG Gene (Homo sapiens):212 ALAS2
Monarch:212 ALAS2
NCBI Gene:212 ALAS2
OMIM:301300 ALAS2
UCSC:P22557 ALAS2
Reference Transcript
RefSeq:NM_000032.4 ALAS2
RefSeq:NM_001037968.3 ALAS2
RefSeq:NM_001037967.3 ALAS2
Other Identifiers
0006040022
11734745_a_at
11738208_a_at
11758412_s_at
17111520
211560_s_at
212
37285_at
4009851
4009852
4009854
4009855
4009858
4009859
4009861
4009862
4009863
4009864
4009866
4009868
4009872
4009873
4009874
4009876
8173135
A_32_P22654
A_32_P385587
GE59859
GO:0001666
GO:0002376
GO:0003674
GO:0003824
GO:0003870
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005739
GO:0005743
GO:0005759
GO:0006778
GO:0006782
GO:0006783
GO:0006879
GO:0006950
GO:0008150
GO:0009058
GO:0016594
GO:0016740
GO:0016746
GO:0030154
GO:0030170
GO:0030218
GO:0032364
GO:0033014
GO:0034641
GO:0042541
GO:0042592
GO:0043167
GO:0043226
GO:0048821
GO:0048856
GO:0051186
ILMN_1708323
ILMN_2271875
ILMN_2367126
PH_hs_0025784
TC0X001077.hg
Z83821_cds2_at
g11493529_3p_s_at
Participant Of
hasComponent
ALAS2 homodimer (pyridoxal phosphate cofactor) [mitochondrial matrix]
Inferred To
Alas [mitochondrial matrix] (Drosophila melanogaster)
ALAS2 [mitochondrial matrix] (Canis familiaris)
ALAS2 [mitochondrial matrix] (Sus scrofa)
HEM1 [mitochondrial matrix] (Saccharomyces cerevisiae)
hemA [mitochondrial matrix] (Dictyostelium discoideum)
PXLP-K391-ALAS2 [mitochondrial matrix] (Plasmodium falciparum)
alas2 [mitochondrial matrix] (Danio rerio)
alas2 [mitochondrial matrix] (Xenopus tropicalis)
Alas2 [mitochondrial matrix] (Mus musculus)
Alas2 [mitochondrial matrix] (Rattus norvegicus)
hem1 [mitochondrial matrix] (Schizosaccharomyces pombe)
Modified Residues
Name
N6-pyridoxal phosphate-L-lysine at 391
Coordinate
391
PsiMod Name
N6-pyridoxal phosphate-L-lysine [MOD:00128]
PsiMod Definition
A protein modification that effectively converts an L-lysine residue to N6-pyridoxal phosphate-L-lysine.
Cross References
RefSeq
NP_000023.2
,
NP_001033056.1
,
NP_001033057.1
OpenTargets
ENSG00000158578
HPA
ENSG00000158578-ALAS2
GeneCards
P22557
Ensembl
ENST00000396198
,
ENSP00000497236
,
ENST00000335854
,
ENSP00000379501
,
ENST00000650242
,
ENSG00000158578
,
ENSP00000337131
PRO
P22557
Orphanet
15484
HMDB Protein
HMDBP00017
PDB
5QQW
,
5QR1
,
5QQV
,
5QQU
,
5QR0
,
5QQT
,
5QQZ
,
5QQY
,
5QR2
,
5QQX
,
5QR7
,
5QRE
,
5QQS
,
5QQR
,
5QR9
,
5QR8
,
5QR5
,
5QRD
,
5QQQ
,
5QRC
,
5QT3
,
5QR6
,
5QR3
,
6HRH
,
5QRB
,
5QRA
,
5QR4
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q8N9N5 BANP
1
BANP [nucleoplasm]
(R-HSA-3221973)
0.556
3
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