P00338
PR
Gene name |
LDHA |
Protein name |
L-lactate dehydrogenase A chain |
Names |
LDH-A, Cell proliferation-inducing gene 19 protein, LDH muscle subunit, LDH-M, Renal carcinoma antigen NY-REN-59 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3939 |
EC number |
1.1.1.27: With NAD(+) or NADP(+) as acceptor |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
44 structures for P00338
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1I10 | X-ray | 230 A | A/B/C/D/E/F/G/H | 2-332 | PDB |
| 4AJP | X-ray | 238 A | A/B/C/D | 2-332 | PDB |
| 4JNK | X-ray | 190 A | A/B/C/D | 2-332 | PDB |
| 4L4R | X-ray | 210 A | A/H | 2-332 | PDB |
| 4L4S | X-ray | 290 A | A/H | 2-332 | PDB |
| 4M49 | X-ray | 205 A | A/B/C/D | 2-332 | PDB |
| 4OJN | X-ray | 240 A | A/B/C/D/E/F/G/H | 2-332 | PDB |
| 4OKN | X-ray | 210 A | A/B/C/D/E/F/G/H | 2-332 | PDB |
| 4QO7 | X-ray | 214 A | A/B/C/D | 2-332 | PDB |
| 4QO8 | X-ray | 200 A | A/B/C/D | 2-332 | PDB |
| 4QSM | X-ray | 300 A | A/B/C/D/E/F/G/H | 2-332 | PDB |
| 4QT0 | X-ray | 320 A | A/B/C/D/E/F/G/H | 2-332 | PDB |
| 4R68 | X-ray | 211 A | A/B/C/D | 2-332 | PDB |
| 4R69 | X-ray | 319 A | A/B/C/D | 2-332 | PDB |
| 4RLS | X-ray | 191 A | A/B/C/D | 2-332 | PDB |
| 4ZVV | X-ray | 220 A | A/B/C/D | 1-332 | PDB |
| 5IXS | X-ray | 205 A | A/B/C/D | 2-332 | PDB |
| 5IXY | X-ray | 300 A | A/B/C/D | 2-332 | PDB |
| 5W8H | X-ray | 180 A | A/B/C/D | 1-332 | PDB |
| 5W8I | X-ray | 195 A | A/B/C/D | 1-332 | PDB |
| 5W8J | X-ray | 155 A | A/B/C/D | 1-332 | PDB |
| 5W8K | X-ray | 160 A | A/B/C/D | 1-332 | PDB |
| 5W8L | X-ray | 195 A | A/B/C/D | 1-332 | PDB |
| 5ZJD | X-ray | 239 A | A/B/C/D/E/F/G/H | 2-332 | PDB |
| 5ZJE | X-ray | 293 A | A/B/C/D/E/F/G/H/I/J/K/L | 2-332 | PDB |
| 5ZJF | X-ray | 260 A | A/B/C/D/E/F/G/H/I/J/K/L | 2-332 | PDB |
| 6BAD | X-ray | 210 A | A/B/C/D | 2-332 | PDB |
| 6BAG | X-ray | 240 A | A/B/C/D | 2-332 | PDB |
| 6BAX | X-ray | 205 A | A/B/C/D | 2-332 | PDB |
| 6BAZ | X-ray | 270 A | A/B/C/D | 2-332 | PDB |
| 6BB0 | X-ray | 195 A | A/B/C/D | 2-332 | PDB |
| 6BB1 | X-ray | 230 A | A/B/C/D/E/F/G/H | 2-332 | PDB |
| 6BB2 | X-ray | 247 A | A/B/C/D/E/F/G/H | 2-332 | PDB |
| 6BB3 | X-ray | 240 A | A/B/C/D | 2-332 | PDB |
| 6MV8 | X-ray | 195 A | A/B/C/D | 1-332 | PDB |
| 6MVA | X-ray | 202 A | A/B/C/D | 1-332 | PDB |
| 6Q0D | X-ray | 205 A | A/B/C/D/E/F | 1-332 | PDB |
| 6Q13 | X-ray | 200 A | A/B/C/D | 1-332 | PDB |
| 6SBU | X-ray | 291 A | A/B/C/D/E/F/G/H | 2-332 | PDB |
| 6SBV | X-ray | 260 A | A/B/C/D/E/F/G/H | 2-332 | PDB |
| 6ZZR | X-ray | 265 A | AAA/BBB/CCC/DDD/EEE/FFF/GGG/HHH | 2-332 | PDB |
| 7M2N | X-ray | 250 A | A/B/C/D | 1-332 | PDB |
| 8FW6 | X-ray | 234 A | A/B | 1-332 | PDB |
| AF-P00338-F1 | Predicted | AlphaFoldDB |
239 variants for P00338
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs200251957 RCV001586145 CA5911162 RCV001351584 |
3 | T>I | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA379500812 rs1264619847 RCV001107008 |
16 | E>G | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM257282 rs144856598 RCV001351844 CA5911210 |
55 | E>K | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
CA5911204 RCV001107009 rs201460924 |
75 | P>V | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5911278 rs184074326 RCV001107662 |
136 | V>I | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001329431 rs768761936 |
159 | I>N | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001107663 CA5911303 RCV000675421 rs116841148 |
176 | E>S | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5911346 RCV000423489 RCV001104040 RCV000675426 rs34305721 |
203 | G>A | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001104039 rs200586792 CA5911320 |
209 | V>F | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000779053 rs751851558 |
225 | E>missing | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5911357 RCV000556498 rs141158742 |
232 | K>N | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779893062 RCV001207792 |
255 | S>missing | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303380 CA5911441 COSM925636 rs140090654 |
315 | R>H | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA124123 rs121912479 RCV000015668 |
329 | E>* | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| TCGA novel | 2 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218581673 rs375339263 |
3 | T>A | No |
ClinGen ESP gnomAD |
|
|
CA379499895 rs1452907923 |
5 | K>* | No |
ClinGen TOPMed |
|
|
CA5911163 rs771136276 |
5 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs978565281 CA218581490 |
6 | D>E | No |
ClinGen TOPMed |
|
|
rs1049174299 CA218581497 |
9 | I>P | No |
ClinGen TOPMed gnomAD |
|
|
rs769816031 CA5911142 |
10 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA674330550 rs1359100834 |
10 | Y>* | No |
ClinGen TOPMed |
|
|
rs746791147 CA5911165 |
10 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172408087 CA379500075 |
11 | N>A | No |
ClinGen gnomAD |
|
|
rs559240574 CA218581498 |
13 | L>K | No |
ClinGen 1000Genomes |
|
|
CA218581499 rs559240574 |
13 | L>R | No |
ClinGen 1000Genomes |
|
|
rs776461335 CA5911167 |
13 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA218581704 rs11553866 |
16 | E>K | No |
ClinGen Ensembl |
|
|
CA5911143 rs773454769 |
17 | Q>F | No |
ClinGen ExAC |
|
|
CA5911169 rs199585928 |
18 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA5911172 rs537487381 |
18 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186843316 CA5911144 |
18 | T>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 18 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5911171 rs537487381 |
18 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772645002 CA218581749 |
19 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1287241973 CA379500303 |
19 | P>Y | No |
ClinGen gnomAD |
|
|
rs551357743 CA5911145 |
20 | Q>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373130532 CA5911161 |
22 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1167439642 CA379500506 |
23 | I>A | No |
ClinGen gnomAD |
|
|
rs759849879 CA5911175 |
23 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379500928 rs1373704514 |
24 | T>A | No |
ClinGen gnomAD |
|
|
CA218581669 rs201366589 |
25 | V>D | No |
ClinGen Ensembl |
|
|
CA379500556 rs1393080737 |
26 | V>F | No |
ClinGen gnomAD |
|
|
rs1334676367 CA379500572 |
27 | G>N | No |
ClinGen TOPMed gnomAD |
|
|
rs11553874 CA218581756 |
27 | G>R | No |
ClinGen Ensembl |
|
|
rs1332947241 CA379500966 |
27 | G>V | No |
ClinGen TOPMed |
|
|
CA379500590 rs1381758156 |
29 | G>S | No |
ClinGen gnomAD |
|
|
CA218581759 rs768639141 |
30 | A>S | No |
ClinGen Ensembl |
|
|
CA379501021 rs1405322703 |
33 | M>V | No |
ClinGen gnomAD |
|
|
rs200846527 CA218581763 |
35 | C>S | No |
ClinGen TOPMed |
|
|
CA218581691 rs977014589 |
38 | S>M | No |
ClinGen Ensembl |
|
|
CA5911178 rs756599511 |
39 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379501116 rs1221206806 |
41 | M>K | No |
ClinGen gnomAD |
|
|
CA5911181 rs753917384 |
41 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911168 rs761824195 |
42 | K>P | No |
ClinGen ExAC gnomAD |
|
|
CA379501584 rs1315471901 |
46 | D>H | No |
ClinGen gnomAD |
|
|
rs537487381 CA5911173 |
47 | E>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA218581748 rs772645002 |
48 | L>A | No |
ClinGen TOPMed gnomAD |
|
|
CA218582894 rs750672775 |
49 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5911206 rs750672775 |
49 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379500886 rs1279545924 |
50 | L>D | No |
ClinGen TOPMed |
|
|
rs144507081 CA218581751 |
50 | L>S | No |
ClinGen ESP |
|
|
rs758645316 CA5911207 |
51 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911208 rs780360946 |
53 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs777884699 CA379501878 |
56 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776016684 CA218581757 |
57 | K>A | No |
ClinGen gnomAD |
|
|
CA5911214 rs773897712 |
62 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1365649442 CA379502133 |
63 | M>I | No |
ClinGen gnomAD |
|
|
rs745571742 CA5911215 |
63 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA379502123 rs745571742 |
63 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1398497148 CA379502144 |
64 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753250935 CA5911177 |
65 | L>T | No |
ClinGen ExAC gnomAD |
|
|
CA218582924 rs886759716 |
66 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 68 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5911180 rs777893906 |
69 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911216 rs202095684 |
69 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA379501118 rs1221206806 |
70 | L>T | No |
ClinGen gnomAD |
|
|
rs757310036 CA5911203 |
73 | R>F | No |
ClinGen ExAC gnomAD |
|
|
rs191747797 CA5911217 |
73 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1345447577 CA379502518 |
76 | K>E | No |
ClinGen gnomAD |
|
|
rs1426332295 CA379503092 |
83 | Y>C | No |
ClinGen gnomAD |
|
|
rs200075826 CA218582902 |
83 | Y>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176413079 CA379503114 |
86 | T>I | No |
ClinGen gnomAD |
|
|
CA379503122 rs1426305418 |
88 | N>D | No |
ClinGen gnomAD |
|
|
rs1340575123 CA379503134 |
89 | S>Y | No |
ClinGen TOPMed |
|
|
CA5911257 rs200332813 |
90 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201250409 CA218583449 |
91 | L>P | No |
ClinGen 1000Genomes |
|
|
CA5911258 rs748572565 |
93 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA218583454 rs778106857 |
94 | I>V | No |
ClinGen Ensembl |
|
|
CA379502222 rs1419112895 |
95 | T>* | No |
ClinGen TOPMed |
|
|
rs201530363 RCV000994580 CA5911259 |
95 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA218582925 rs202095684 |
98 | A>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763532603 CA5911261 |
99 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1018955701 CA218583460 |
99 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 99 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764398695 CA5911219 |
105 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA379503234 rs1480367078 |
105 | S>R | No |
ClinGen TOPMed |
|
|
CA379503239 rs1221880983 |
106 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs145343940 CA5911266 |
110 | V>I | No |
ClinGen ESP ExAC |
|
|
rs199521486 CA5911267 |
112 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771653478 CA379503342 |
112 | R>H | No |
ClinGen gnomAD |
|
|
rs771653478 CA218583506 |
112 | R>P | No |
ClinGen gnomAD |
|
|
CA379503091 rs1426332295 |
112 | R>S | No |
ClinGen gnomAD |
|
|
rs913688115 CA218583448 |
113 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 120 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379503459 rs1346826614 |
120 | I>V | No |
ClinGen TOPMed |
|
|
CA218583520 rs746460566 |
121 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5911273 rs765937866 |
124 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379503167 rs201530363 |
124 | V>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218583533 rs575345523 |
125 | V>L | No |
ClinGen Ensembl |
|
|
rs201958008 CA218583539 |
127 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA379503610 rs1404465820 |
128 | S>R | No |
ClinGen gnomAD |
|
|
rs754439498 CA5911276 |
129 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754439498 CA5911275 |
129 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774569446 CA5911263 |
134 | L>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1213236 CA379503240 rs1283076524 COSM1213237 |
135 | I>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 139 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351208986 CA379503863 |
140 | V>M | No |
ClinGen gnomAD |
|
|
CA218583484 rs745522152 |
140 | V>R | No |
ClinGen Ensembl |
|
|
CA379504641 rs1272985965 |
141 | D>Y | No |
ClinGen gnomAD |
|
|
CA379504659 rs1456883968 |
142 | I>V | No |
ClinGen TOPMed |
|
|
rs777419564 CA5911300 |
143 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA379504702 rs1200950693 |
145 | Y>N | No |
ClinGen gnomAD |
|
|
rs200268273 COSM1139725 CA379504730 COSM542008 |
146 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5911302 rs200268273 |
146 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145506651 CA5911304 |
149 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1480859570 CA379504791 |
149 | K>N | No |
ClinGen TOPMed |
|
|
rs1167236350 CA379504854 |
152 | G>A | No |
ClinGen gnomAD |
|
|
rs1420549816 CA379503494 |
152 | G>D | No |
ClinGen gnomAD |
|
|
rs1167236350 CA379504840 |
152 | G>D | No |
ClinGen gnomAD |
|
|
CA218584551 rs138120080 |
152 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772238965 CA5911305 |
154 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149790112 CA218583537 |
156 | N>C | No |
ClinGen ESP TOPMed |
|
|
CA379504969 rs1488155815 |
157 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs368815124 CA5911307 |
157 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368815124 CA5911306 |
157 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5911308 rs768761936 |
159 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA379505063 rs1396237391 |
161 | S>G | No |
ClinGen gnomAD |
|
|
rs4687 CA218584567 |
161 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762771019 CA5911310 |
162 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911279 COSM1507420 COSM1507421 rs777988373 |
166 | D>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1278078759 CA379505158 |
166 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5911313 rs201372985 |
169 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461200780 CA379505213 |
169 | R>Q | No |
ClinGen gnomAD |
|
|
rs767123470 CA5911314 |
170 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5911315 rs752156024 |
171 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5911316 rs760172008 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1385447560 CA379505314 |
174 | M>L | No |
ClinGen TOPMed |
|
|
rs1424164242 CA379505360 |
175 | G>W | No |
ClinGen gnomAD |
|
|
rs145506651 CA218584546 |
178 | L>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5911319 rs757736035 |
179 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5911322 rs758823920 |
182 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs200566403 CA218584603 |
183 | L>S | No |
ClinGen TOPMed |
|
|
rs199659698 CA218584599 |
183 | L>V | No |
ClinGen TOPMed |
|
|
CA379504914 rs1466951779 |
184 | S>R | No |
ClinGen gnomAD |
|
|
rs148186234 CA5911323 |
186 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
RCV000675424 CA5911326 rs201252408 |
190 | L>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 191 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 192 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379505209 rs1200853938 |
197 | S>V | No |
ClinGen gnomAD |
|
|
rs1337279390 CA379506271 |
198 | V>E | No |
ClinGen gnomAD |
|
|
rs1050130076 CA218585004 |
201 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA379505353 rs1367582685 |
203 | G>I | No |
ClinGen TOPMed |
|
|
rs370781767 CA5911347 |
204 | M>V | No |
ClinGen ESP ExAC |
|
|
CA379506532 rs1219647514 |
205 | N>I | No |
ClinGen gnomAD |
|
|
CA379506562 rs1212540504 |
207 | A>T | No |
ClinGen TOPMed |
|
|
CA379506647 rs1267663373 |
210 | S>P | No |
ClinGen gnomAD |
|
|
rs1488775489 CA379506658 |
211 | L>V | No |
ClinGen gnomAD |
|
|
rs1382366706 CA379505743 |
215 | H>Y | No |
ClinGen gnomAD |
|
|
CA5911349 rs1554961421 |
216 | P>L | No |
ClinGen Ensembl |
|
|
rs1470450944 CA379505864 |
218 | L>F | No |
ClinGen TOPMed |
|
|
VAR_004180 CA5911352 rs748436361 |
222 | K>E | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs190552648 CA5911327 |
222 | K>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777916242 CA5911355 |
225 | E>K | No |
ClinGen ExAC |
|
|
RCV000722494 rs1295332354 |
226 | Q>* | No |
ClinVar dbSNP |
|
|
rs745669796 CA5911356 |
226 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs780459495 CA5911345 |
229 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA379506452 rs1287059546 |
232 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA379506484 rs1220393077 |
233 | Q>I | No |
ClinGen gnomAD |
|
|
rs150740870 CA5911358 |
235 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1446574201 CA379507166 |
235 | V>I | No |
ClinGen gnomAD |
|
|
rs760638041 CA5911360 |
237 | S>C | No |
ClinGen ExAC |
|
|
rs749493960 CA5911378 |
238 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379506661 rs1277705661 |
240 | E>R | No |
ClinGen TOPMed |
|
|
rs1248148905 CA379506742 |
242 | I>I | No |
ClinGen gnomAD |
|
|
rs1349610606 CA379507642 |
242 | I>L | No |
ClinGen TOPMed |
|
|
rs1304107826 CA379507685 |
244 | L>F | No |
ClinGen TOPMed |
|
|
rs1218949575 CA379507834 |
252 | I>V | No |
ClinGen gnomAD |
|
|
CA379507003 rs1349748996 |
255 | S>E | No |
ClinGen gnomAD |
|
| TCGA novel | 256 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304025194 CA379507138 |
262 | S>H | No |
ClinGen TOPMed |
|
|
CA5911387 rs772791680 |
264 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184289543 CA379508106 |
266 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1303748888 CA379508149 |
269 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA218585759 rs559447427 |
269 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759838023 CA5911391 |
271 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA379508171 rs1437098895 |
273 | V>I | No |
ClinGen TOPMed |
|
|
rs1393389316 CA379508181 |
274 | S>F | No |
ClinGen TOPMed |
|
|
CA5911392 rs200256380 |
275 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911394 rs756225293 |
276 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5911381 rs746981573 |
277 | I>A | No |
ClinGen ExAC gnomAD |
|
|
rs1244071770 CA379508208 |
278 | K>T | No |
ClinGen TOPMed |
|
|
CA5911429 rs761740106 |
279 | G>A | No |
ClinGen ExAC |
|
|
CA379508580 rs1176976315 |
280 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs776649952 CA5911383 |
280 | L>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379508582 rs1176976315 |
280 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199859192 CA5911431 |
282 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160537812 CA379508618 |
282 | G>V | No |
ClinGen gnomAD |
|
|
rs147520495 CA5911432 |
285 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379507938 rs1208949691 |
287 | V>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 291 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351386042 CA379508755 |
293 | C>G | No |
ClinGen gnomAD |
|
|
rs1257600663 CA379508792 |
296 | G>E | No |
ClinGen TOPMed |
|
|
CA5911388 rs762657047 |
296 | G>F | No |
ClinGen ExAC gnomAD |
|
|
rs766720385 CA5911389 |
297 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218585763 rs371400978 |
299 | G>L | No |
ClinGen ESP |
|
| TCGA novel | 301 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777517739 CA5911436 |
303 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 304 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190678979 CA379508184 |
304 | V>A | No |
ClinGen TOPMed |
|
|
CA218586521 rs753349051 |
306 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs199859192 CA379508614 |
311 | E>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_004181 rs200093825 CA5911440 |
315 | R>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA5911442 rs775823378 |
317 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs752750333 CA5911434 |
318 | K>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218586562 rs200908475 |
321 | D>G | No |
ClinGen Ensembl |
|
|
rs200019907 CA5911444 |
321 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs761982670 CA5911446 |
322 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776953904 CA5911445 |
322 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA379509249 rs1375711742 |
325 | G>R | No |
ClinGen TOPMed |
|
|
CA218586574 rs201842179 |
325 | G>V | No |
ClinGen Ensembl |
|
|
CA218586511 rs201721233 |
327 | Q>H | No |
ClinGen Ensembl |
|
|
rs763264028 CA5911450 |
331 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs748856517 CA5911437 |
333 | F>M | No |
ClinGen ExAC |
1 associated diseases with P00338
[MIM: 612933]: Glycogen storage disease 11 (GSD11)
A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue. {ECO:0000269|PubMed:2334430}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue. {ECO:0000269|PubMed:2334430}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 1.1.1.27 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| oxidoreductase complex | Any protein complex that possesses oxidoreductase activity. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| identical protein binding | Binding to an identical protein or proteins. |
| L-lactate dehydrogenase activity | Catalysis of the reaction: (S)-lactate + NAD+ = pyruvate + NADH + H+. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| glycolytic process | The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. |
| lactate metabolic process | The chemical reactions and pathways involving lactate, the anion of lactic acid. |
| pyruvate metabolic process | The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. |
| substantia nigra development | The progression of the substantia nigra over time from its initial formation until its mature state. The substantia nigra is the layer of gray substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis). |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9B1 | LDHB | L-lactate dehydrogenase B chain | Bos taurus (Bovine) | PR |
| P19858 | LDHA | L-lactate dehydrogenase A chain | Bos taurus (Bovine) | PR |
| Q5R1W9 | LDHA | L-lactate dehydrogenase A chain | Pan troglodytes (Chimpanzee) | PR |
| P07864 | LDHC | L-lactate dehydrogenase C chain | Homo sapiens (Human) | PR |
| P07195 | LDHB | L-lactate dehydrogenase B chain | Homo sapiens (Human) | PR |
| P16125 | Ldhb | L-lactate dehydrogenase B chain | Mus musculus (Mouse) | PR |
| P06151 | Ldha | L-lactate dehydrogenase A chain | Mus musculus (Mouse) | PR |
| P00339 | LDHA | L-lactate dehydrogenase A chain | Sus scrofa (Pig) | PR |
| P04642 | Ldha | L-lactate dehydrogenase A chain | Rattus norvegicus (Rat) | PR |
| Q66KB7 | uevld | Ubiquitin-conjugating enzyme E2 variant 3 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6DBY5 | uevld | Ubiquitin-conjugating enzyme E2 variant 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATLKDQLIY | NLLKEEQTPQ | NKITVVGVGA | VGMACAISIL | MKDLADELAL | VDVIEDKLKG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EMMDLQHGSL | FLRTPKIVSG | KDYNVTANSK | LVIITAGARQ | QEGESRLNLV | QRNVNIFKFI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IPNVVKYSPN | CKLLIVSNPV | DILTYVAWKI | SGFPKNRVIG | SGCNLDSARF | RYLMGERLGV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HPLSCHGWVL | GEHGDSSVPV | WSGMNVAGVS | LKTLHPDLGT | DKDKEQWKEV | HKQVVESAYE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VIKLKGYTSW | AIGLSVADLA | ESIMKNLRRV | HPVSTMIKGL | YGIKDDVFLS | VPCILGQNGI |
| 310 | 320 | 330 | |||
| SDLVKVTLTS | EEEARLKKSA | DTLWGIQKEL | QF |