LYRM4
entrez
57128
canonical
uniprot
Q9HD34
canonical
ensembl
ENSG00000214113
resolver
ensp
ENSP00000418787
resolver
ensp
ENSP00000419928
resolver
ensp
ENSP00000420026
resolver
ensp
ENSP00000443900
resolver
ensp
ENSP00000695705
resolver
enst
ENST00000330636
resolver
enst
ENST00000464010
resolver
enst
ENST00000480566
resolver
enst
ENST00000500576
resolver
genesymbol
LYRM4
resolver
genesymbol_syn
C6orf149
resolver
genesymbol_syn
ISD11
resolver
hgnc
HGNC:21365
resolver
uniprot
A8K543
resolver
uniprot
C9JRX8
resolver
uniprot
C9JY28
resolver
uniprot
F5H189
resolver
uniprot
Q5XKP1
resolver
uniprot_entry
C9JRX8_HUMAN
resolver
uniprot_entry
C9JY28_HUMAN
resolver
uniprot_entry
F5H189_HUMAN
resolver
uniprot_entry
LYRM4_HUMAN
resolver
uniprot_sec
A8K543
resolver
uniprot_sec
Q5XKP1
resolver
amino_acid_sequence
MAASSRAQVLSLYRAMLRESKRFSAYNYRTYAVRRIRDAFRENKNVKDPVEIQTLVNKAKRDLGVIRRQVHIGQLYSTDKLIIENRDMPRT
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595]: A mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function. {ECO:0000269|PubMed:23814038}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Stabilizing factor, of the core iron-sulfur cluster (ISC) assembly complex, that regulates, in association with NDUFAB1, the stability and the cysteine desulfurase activity of NFS1 and participates in the [2Fe-2S] clusters assembly on the scaffolding protein ISCU (PubMed:17331979, PubMed:31664822). The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity). May also participates in the iron-sulfur protein biogenesis in the cytoplasm through its interaction with the cytoplasmic form of NFS1 (PubMed:19454487). {ECO:0000250|UniProtKB:Q9H1K1, ECO:0000269|PubMed:17331979, ECO:0000269|PubMed:19454487, ECO:0000269|PubMed:31664822}.
uniprot
proteins
mass_dalton
10758
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; iron-sulfur cluster biosynthesis. {ECO:0000269|PubMed:17331979, ECO:0000269|PubMed:31664822}.
uniprot
proteins
protein_family
Complex I LYR family
uniprot
proteins
pubmed
11342225
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17331979
uniprot
proteins
pubmed
18650437
uniprot
proteins
pubmed
19454487
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21298097
uniprot
proteins
pubmed
23593335
uniprot
proteins
pubmed
23814038
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29097656
uniprot
proteins
pubmed
31101807
uniprot
proteins
pubmed
31664822
uniprot
proteins
pubmed
34824239
uniprot
proteins
sequence_length
91
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:17331979, ECO:0000269|PubMed:19454487, ECO:0000269|PubMed:23593335}. Nucleus {ECO:0000269|PubMed:19454487, ECO:0000269|PubMed:23593335}.
uniprot
proteins