P07864
Gene name |
LDHC (LDH3, LDHX) |
Protein name |
L-lactate dehydrogenase C chain |
Names |
LDH-C, Cancer/testis antigen 32, CT32, LDH testis subunit, LDH-X |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3948 |
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
2 structures for P07864
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7EPM | X-ray | 300 A | A/B | 2-332 | PDB |
| AF-P07864-F1 | Predicted | AlphaFoldDB |
271 variants for P07864
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs769545568 CA5911517 |
3 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379512383 rs769545568 |
3 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192688509 CA379512441 |
4 | V>L | No |
ClinGen gnomAD |
|
|
CA218589909 rs946276190 |
6 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs946276190 CA379512520 |
6 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766275159 CA5911520 |
8 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568138704 CA5911521 |
9 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1255592784 CA379512691 |
9 | I>T | No |
ClinGen Ensembl |
|
|
CA5911522 rs759039260 |
10 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA379512746 rs1398758294 |
12 | L>P | No |
ClinGen gnomAD |
|
|
CA5911523 rs767111466 |
12 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000962117 CA5911524 rs73436621 |
13 | I>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778272077 CA5911526 |
13 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911525 rs73436621 |
13 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379512787 rs1229854441 |
14 | E>A | No |
ClinGen gnomAD |
|
|
rs754459497 CA5911527 |
15 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA218589946 rs372373685 |
16 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs779414555 CA5911529 |
17 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282303005 CA379512898 |
18 | N>D | No |
ClinGen gnomAD |
|
|
CA379512919 rs1487262644 |
18 | N>K | No |
ClinGen gnomAD |
|
|
rs745952910 CA5911530 |
19 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369553713 CA5911531 |
20 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA218589977 rs931208517 |
20 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1485037625 CA379512946 |
20 | Q>L | No |
ClinGen TOPMed |
|
|
CA5911533 rs142289224 |
21 | C>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA379512969 rs142289224 |
21 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1376747348 CA379512997 |
22 | K>E | No |
ClinGen gnomAD |
|
|
rs1454281645 CA379513062 |
25 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs769632709 CA218590042 |
28 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769632709 CA5911534 |
28 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762680632 CA5911536 |
30 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5911538 rs774305161 |
31 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379513162 rs1357332075 |
33 | M>T | No |
ClinGen gnomAD |
|
|
rs1321749595 CA379513178 |
34 | A>T | No |
ClinGen gnomAD |
|
|
CA379513181 rs1370544092 |
34 | A>V | No |
ClinGen gnomAD |
|
|
rs79201187 CA5911540 |
35 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs752458236 CA5911541 |
36 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1351654744 CA379513204 |
36 | A>V | No |
ClinGen gnomAD |
|
|
CA5911542 rs760397029 |
38 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs200996269 CA218590089 |
39 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
rs1232472160 CA379513237 |
39 | I>T | No |
ClinGen TOPMed |
|
| rs1486702368 | 42 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379513271 rs1261264834 |
42 | K>R | No |
ClinGen gnomAD |
|
|
CA379514152 rs1479985393 |
43 | D>Y | No |
ClinGen gnomAD |
|
|
rs563217843 CA5911559 |
44 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 46 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763857510 CA5911560 |
47 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA379514299 rs1446894864 |
49 | A>D | No |
ClinGen TOPMed |
|
|
rs776379979 CA5911561 |
53 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421396505 CA379514430 |
53 | V>I | No |
ClinGen gnomAD |
|
|
CA379514586 rs750947492 |
56 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911565 rs758939071 |
57 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs370079739 CA5911566 CA379514928 |
62 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379514939 rs1298806855 |
63 | M>T | No |
ClinGen gnomAD |
|
|
rs551119181 CA218591527 |
64 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292620839 CA379515087 |
67 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 69 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379515228 rs1335690336 |
70 | L>F | No |
ClinGen TOPMed |
|
|
rs1404637151 CA379515253 |
71 | F>C | No |
ClinGen TOPMed |
|
|
rs1467772454 CA379515248 |
71 | F>V | No |
ClinGen TOPMed |
|
|
rs1170972875 CA379515334 |
73 | S>G | No |
ClinGen TOPMed |
|
|
CA379515399 rs1422138875 |
74 | T>N | No |
ClinGen TOPMed |
|
|
rs373834035 CA218591558 |
75 | S>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5911571 rs781433212 |
75 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs748352173 CA5911572 |
77 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1482018895 CA379515539 |
79 | S>T | No |
ClinGen gnomAD |
|
|
rs930685372 CA218565336 |
82 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 83 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379490605 rs1452591375 |
83 | Y>C | No |
ClinGen gnomAD |
|
|
CA5911590 rs755103153 |
83 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA5911591 rs374002407 |
84 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752931129 CA5911592 |
88 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911593 rs756367246 |
89 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs750252706 CA5911595 |
90 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs758222573 CA5911596 |
91 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1365070395 CA379490846 |
92 | V>I | No |
ClinGen gnomAD |
|
|
CA379490867 rs1233188387 |
93 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303498630 CA379490909 |
96 | A>V | No |
ClinGen gnomAD |
|
|
CA218565419 rs11558333 |
97 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs139647819 CA5911598 |
100 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379491108 rs1590228720 |
105 | T>P | No |
ClinGen Ensembl |
|
|
CA5911599 rs768339569 |
106 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA218565437 rs768339569 |
106 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200332423 CA5911600 |
106 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200332423 CA379491141 |
106 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769511132 CA5911602 |
110 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA379491273 CA5911604 rs144306480 |
111 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5911605 rs771264967 |
112 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs980844599 CA218565515 |
112 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs980844599 CA379491302 |
112 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5911606 rs774900783 |
114 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5911608 rs146472745 |
116 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372539242 CA5911607 |
116 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1590228771 CA379491465 |
117 | M>I | No |
ClinGen Ensembl |
|
|
rs1001797839 CA218565525 |
117 | M>T | No |
ClinGen TOPMed |
|
|
CA379491528 rs1175158385 |
120 | I>V | No |
ClinGen TOPMed |
|
|
rs760620346 CA5911610 |
124 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1476716012 CA379491625 |
124 | I>V | No |
ClinGen TOPMed |
|
|
rs753971983 CA379491699 |
126 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911612 rs753971983 |
126 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565051387 CA379491673 |
126 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 128 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218565612 rs1033574369 |
133 | I>S | No |
ClinGen Ensembl |
|
|
CA218565630 rs897430363 |
134 | L>R | No |
ClinGen TOPMed |
|
|
rs758316404 CA5911614 |
135 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs141033508 CA218565635 |
136 | V>I | No |
ClinGen ESP |
|
|
rs779982098 CA5911615 |
138 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5911616 rs150157978 |
139 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438515905 CA379493471 |
144 | T>K | No |
ClinGen gnomAD |
|
|
CA379493482 rs1188240847 |
145 | Y>H | No |
ClinGen gnomAD |
|
|
rs1206488111 CA379493487 |
145 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5911633 rs751411987 |
146 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754780462 CA5911634 |
147 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs752556850 CA5911636 |
149 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA379493521 rs1474202485 |
150 | I>V | No |
ClinGen gnomAD |
|
|
CA5911637 rs755708433 |
155 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5911638 rs777146300 |
157 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5911639 rs184986131 |
157 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA379493569 rs1374190317 |
158 | V>I | No |
ClinGen gnomAD |
|
|
rs778491375 CA5911641 |
159 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746259283 CA5911642 |
160 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs772289571 CA5911643 |
162 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5911644 rs776111755 |
162 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5911645 rs747457421 |
163 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911646 rs768845228 |
166 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776577627 CA5911647 |
166 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1211553780 CA379494270 |
167 | S>C | No |
ClinGen gnomAD |
|
|
rs148817816 CA5911648 |
169 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1480534867 CA379494352 |
169 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5911649 rs201168555 |
171 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5911650 rs773537130 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759454589 CA5911651 |
174 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379494577 rs1476077824 |
175 | G>E | No |
ClinGen gnomAD |
|
|
CA379494629 rs1171190604 |
176 | E>G | No |
ClinGen gnomAD |
|
|
rs767205516 CA5911652 |
177 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs752749723 CA5911653 |
178 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA5911654 rs756011979 |
178 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379494835 rs1590231127 |
181 | H>P | No |
ClinGen Ensembl |
|
|
rs1380888967 CA379494822 |
181 | H>Y | No |
ClinGen gnomAD |
|
|
rs1208531070 CA379494912 |
182 | P>L | No |
ClinGen TOPMed |
|
|
CA379494891 rs1230975220 |
182 | P>S | No |
ClinGen gnomAD |
|
|
rs764039083 CA5911656 |
183 | T>P | No |
ClinGen ExAC |
|
|
CA218569863 rs1007827759 |
185 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5911657 rs753372115 |
186 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218569872 rs753372115 |
186 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257718550 CA379495042 |
186 | H>Y | No |
ClinGen gnomAD |
|
|
CA5911658 rs756713645 |
188 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1204348577 CA379495096 |
188 | W>* | No |
ClinGen gnomAD |
|
|
CA379495250 rs1191404824 |
193 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778572910 CA5911659 |
193 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454352044 CA379495274 |
194 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5911680 rs148004611 |
201 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751890722 CA5911681 |
202 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379495683 rs1352059319 |
202 | S>N | No |
ClinGen gnomAD |
|
|
rs973288590 CA218572677 |
203 | G>E | No |
ClinGen TOPMed |
|
|
rs1292508124 CA379495702 |
203 | G>R | No |
ClinGen gnomAD |
|
|
rs145871249 CA5911684 |
206 | V>I | No |
ClinGen ESP ExAC |
|
|
rs765321986 CA5911685 |
207 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5911686 rs778007351 |
212 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457467265 CA379496037 |
217 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 219 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5911689 rs771085598 |
220 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911691 rs181881801 |
220 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5911690 rs181881801 |
220 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218572784 rs867366990 |
222 | S>L | No |
ClinGen Ensembl |
|
|
CA5911695 rs202072443 |
223 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776605528 CA5911693 |
223 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs761731055 CA5911694 |
223 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427613833 CA379496266 |
226 | H>N | No |
ClinGen gnomAD |
|
|
rs749946913 CA5911696 |
226 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5911698 rs765977484 |
227 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5911699 rs765977484 |
227 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762476748 CA5911697 |
227 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1412928214 CA379496360 |
228 | K>E | No |
ClinGen gnomAD |
|
|
CA379496385 rs1312009699 |
229 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 229 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379496390 rs1355900430 |
229 | N>S | No |
ClinGen gnomAD |
|
|
rs888732937 CA218572819 |
231 | H>Q | No |
ClinGen Ensembl |
|
|
rs755357039 CA5911700 |
231 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5911701 rs781688533 |
232 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1477929477 CA379496502 |
233 | Q>E | No |
ClinGen gnomAD |
|
|
CA218572820 rs375291929 |
234 | V>G | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 236 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379496617 rs1173633069 |
236 | Q>R | No |
ClinGen gnomAD |
|
|
CA5911702 rs753045145 |
237 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs930572377 CA379499076 |
238 | A>D | No |
ClinGen TOPMed |
|
|
rs1330263492 CA379499068 |
238 | A>T | No |
ClinGen gnomAD |
|
|
rs930572377 CA218576957 |
238 | A>V | No |
ClinGen TOPMed |
|
|
CA5911717 rs773944156 |
239 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240785602 CA379499156 |
242 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189504767 CA379499270 |
247 | Y>* | No |
ClinGen gnomAD |
|
|
rs759268494 CA5911718 |
247 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1590236802 CA379499280 |
248 | T>S | No |
ClinGen Ensembl |
|
|
rs753137116 CA5911720 |
249 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379499347 rs1172863734 |
250 | W>C | No |
ClinGen gnomAD |
|
|
CA218576964 rs985674643 |
252 | I>V | No |
ClinGen Ensembl |
|
|
rs756510241 CA5911721 |
253 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA379499511 rs1416158656 |
255 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 256 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466639452 CA379499516 |
256 | V>L | No |
ClinGen TOPMed |
|
|
rs386751173 CA218576978 |
258 | D>G | No |
ClinGen Ensembl |
|
|
CA379499580 rs2658565 |
259 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2658565 CA379499579 |
259 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201957484 CA5911724 |
261 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1344431284 CA379499619 |
261 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779043876 CA5911725 |
263 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA379499769 rs1413890510 |
266 | N>D | No |
ClinGen TOPMed |
|
|
rs745865996 CA5911726 |
266 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5911727 rs758630371 |
267 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1004683428 CA218577016 |
269 | R>G | No |
ClinGen TOPMed |
|
|
CA379500058 rs1368902927 |
272 | P>L | No |
ClinGen gnomAD |
|
|
rs144032917 CA218577030 |
273 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA5911729 rs573083696 |
274 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1181884811 CA379500166 |
275 | T>I | No |
ClinGen TOPMed |
|
|
CA5911731 rs773081314 |
276 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316715794 CA379500206 |
276 | M>T | No |
ClinGen gnomAD |
|
|
rs1274724226 CA379500178 |
276 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA379500248 rs1270255339 |
278 | K>Q | No |
ClinGen gnomAD |
|
|
rs375667359 CA218579988 |
279 | G>E | No |
ClinGen TOPMed |
|
|
rs375667359 CA379501313 |
279 | G>V | No |
ClinGen TOPMed |
|
|
CA379501335 rs1461129170 |
281 | Y>C | No |
ClinGen TOPMed |
|
|
CA5911747 rs187999716 |
281 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs117703340 CA5911748 |
284 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379501379 rs117703340 |
284 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2230150 CA5911750 |
285 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5911751 rs770926658 |
285 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5911749 rs2230150 VAR_034068 |
285 | E>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA379501417 rs1163502049 |
286 | E>D | No |
ClinGen gnomAD |
|
|
CA5911752 rs778679570 |
286 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs745415561 CA5911754 |
290 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745415561 CA379501479 |
290 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327371373 CA379501486 |
291 | I>V | No |
ClinGen gnomAD |
|
|
rs1411046576 CA379501502 |
292 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1310206871 CA379501549 |
293 | C>S | No |
ClinGen gnomAD |
|
|
CA379501616 rs1354011066 |
295 | L>M | No |
ClinGen gnomAD |
|
|
rs760395380 CA5911757 |
297 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200582503 CA5911756 |
297 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 299 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379502074 rs1212899360 |
302 | D>E | No |
ClinGen gnomAD |
|
|
rs567978312 CA5911758 |
305 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777065377 CA5911759 |
306 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207265723 CA379502343 |
310 | S>P | No |
ClinGen gnomAD |
|
|
rs1255074794 CA379502361 |
310 | S>Y | No |
ClinGen gnomAD |
|
|
CA5911760 rs762032479 |
311 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356622317 CA379502443 |
313 | E>Q | No |
ClinGen gnomAD |
|
|
CA5911761 rs534491896 |
314 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5911762 rs534491896 |
314 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763069709 CA5911763 |
315 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA379502496 rs1474255625 |
315 | L>P | No |
ClinGen gnomAD |
|
|
rs766443248 CA218580096 CA5911764 |
317 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390293150 CA379502539 |
317 | K>R | No |
ClinGen gnomAD |
|
|
rs965914521 CA218580102 |
320 | A>T | No |
ClinGen Ensembl |
|
|
CA379502645 rs1171061282 |
320 | A>V | No |
ClinGen gnomAD |
|
|
rs1373984613 CA379502754 |
322 | T>I | No |
ClinGen gnomAD |
|
|
rs139520541 CA5911765 |
324 | W>R | No |
ClinGen ESP ExAC |
|
|
rs1387931247 CA379502823 |
326 | I>V | No |
ClinGen TOPMed |
|
|
rs1395813597 CA379502850 |
327 | Q>* | No |
ClinGen gnomAD |
|
|
rs755243567 CA5911766 |
327 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs755243567 CA379502855 |
327 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs781224542 CA5911767 |
329 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs146040369 CA5911768 |
330 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1028773342 CA218580123 |
331 | I>L | No |
ClinGen Ensembl |
|
|
rs1296931433 CA379502943 |
331 | I>T | No |
ClinGen gnomAD |
No associated diseases with P07864
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. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| L-lactate dehydrogenase activity | Catalysis of the reaction: (S)-lactate + NAD+ = pyruvate + NADH + H+. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| ATP biosynthetic process | The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| lactate biosynthetic process from pyruvate | The chemical reactions and pathways resulting in the formation of lactate from other compounds, including pyruvate. |
| lactate metabolic process | The chemical reactions and pathways involving lactate, the anion of lactic acid. |
| lactate oxidation | The chemical reactions and pathways resulting in the conversion of lactate to other compounds, such as pyruvate, with concomitant loss of electrons. |
| pyruvate metabolic process | The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P19858 | LDHA | L-lactate dehydrogenase A chain | Bos taurus (Bovine) | PR |
| Q5E9B1 | LDHB | L-lactate dehydrogenase B chain | Bos taurus (Bovine) | PR |
| Q5R1W9 | LDHA | L-lactate dehydrogenase A chain | Pan troglodytes (Chimpanzee) | PR |
| P07195 | LDHB | L-lactate dehydrogenase B chain | Homo sapiens (Human) | PR |
| P00338 | LDHA | L-lactate dehydrogenase A chain | Homo sapiens (Human) | PR |
| P06151 | Ldha | L-lactate dehydrogenase A chain | Mus musculus (Mouse) | PR |
| P16125 | Ldhb | L-lactate dehydrogenase B 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 |
| MSTVKEQLIE | KLIEDDENSQ | CKITIVGTGA | VGMACAISIL | LKDLADELAL | VDVALDKLKG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EMMDLQHGSL | FFSTSKITSG | KDYSVSANSR | IVIVTAGARQ | QEGETRLALV | QRNVAIMKSI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IPAIVHYSPD | CKILVVSNPV | DILTYIVWKI | SGLPVTRVIG | SGCNLDSARF | RYLIGEKLGV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HPTSCHGWII | GEHGDSSVPL | WSGVNVAGVA | LKTLDPKLGT | DSDKEHWKNI | HKQVIQSAYE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IIKLKGYTSW | AIGLSVMDLV | GSILKNLRRV | HPVSTMVKGL | YGIKEELFLS | IPCVLGRNGV |
| 310 | 320 | 330 | |||
| SDVVKINLNS | EEEALFKKSA | ETLWNIQKDL | IF |