| Type | Description |
|---|---|
| Definition | propionyl-CoA carboxylase subunit alpha |
| Date | Results | Publications |
|---|---|---|
| 2019-06-22 10:28:00 | his work represents a large-scale update on pathogenic mutations in the PCCA and PCCB genes causing Propionic acidemia (PA), and confirms previous reports indicating a major causative role of mutation-induced protein destabilization | 30274917 |
| 2019-02-02 12:10:00 | The data indicate that amino acid/nucleotide metabolism-related genes OGDH, PPAT and PCCA acquire somatic mutations in microsatellite instability-high gastric cancers and colorectal cancers and that mutational intratumoral heterogeneity may occur in at least some of these tumors. | 27468871 |
| 2017-04-08 10:17:00 | The majority of patients had mutations in the PCCA gene (18/25). A total of 26 mutations were noted: 20 in the PCCA gene and 6 in PCCB gene. Seventeen mutations were novel (14 in PCCA and 3 in PCCB). The SNP c.937C>T (p.Arg313Ter), was noted in 9/36 (25%) alleles in the PCCA gene | 27227689 |
| 2015-06-20 10:56:00 | Ten propionic acidemia mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene | 25636094 |
| 2015-05-16 11:39:00 | Two PCCA mutations, c.229C-->T (p.R77W) and c.1262A-->C (p.Q421P), were identified in a PCCA-deficient patient. | 24863100 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
PCCA_HUMAN
UniprotKB:
P05165
UniParc:
UPI0000070089,
UPI0001D1DA8E,
UPI00001FCA1E
EMBL:
AY035801,
AY035792,
AY035805,
CH471085,
AL353697,
AY035790,
AY035797,
AK296771,
AY035791,
AY035808,
AY035803,
AY035799,
AK298318,
AY035796,
AL355338,
S55656,
M13572,
AY035806,
AY035798,
M26121,
AY035789,
AY035794,
AY035786,
AY035788,
AY035800,
AY035807,
AY035804,
BC000140,
X14608,
AL136526,
AL356575,
AY035802,
AY035793,
AF385926,
AY035787,
AY035795
Ensembl:
ENSG00000175198
KO:
hsa:5095
|
| Nucleutide sequences |
EMBL-CDS:
EAX09034.1,
AAH00140.1,
BAG59350.1,
AAB25345.1,
AAL66189.1,
BAG60571.1,
AAA36424.1,
CAA32763.1,
AAA60035.1,
AAK61392.1
Ensembl_TRS:
ENST00000376285,
ENST00000376286,
ENST00000376279
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000365463,
ENSP00000365456,
ENSP00000365462
RefSeq:
NP_001339538.1,
NP_001339535.1,
NP_001171475.1,
XP_016876105.1,
NP_001339534.1,
XP_016876100.1,
XP_016876101.1,
XP_011519395.1,
XP_016876102.1,
XP_016876094.1,
XP_016876098.1,
NP_001339537.1,
NP_001339540.1,
NP_001339539.1,
NP_000273.2,
NP_001339541.1,
XP_016876096.1,
XP_016876104.1,
XP_016876095.1,
NP_001339536.1,
NP_001121164.1
|
| Others |
UniRef100:
UniRef100_P05165
UniRef90:
UniRef90_P05165
UniRef50:
UniRef50_P05165
UniGene:
Hs.80741
CCDS:
CCDS9496.2,
CCDS45065.1,
CCDS53878.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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