Q00325
PR
Gene name |
SLC25A3 (PHC, OK/SW-cl.48) |
Protein name |
Phosphate carrier protein, mitochondrial |
Names |
Phosphate transport protein, PTP, Solute carrier family 25 member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5250 |
EC number |
|
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
1 structures for Q00325
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q00325-F1 | Predicted | AlphaFoldDB |
292 variants for Q00325
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000394919 CA10633770 rs886049919 |
2 | F>L | Cardiomyopathy-hypotonia-lactic acidosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1294003725 RCV001197931 |
17 | P>A | Cardiomyopathy-hypotonia-lactic acidosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104894375 RCV000009720 VAR_032850 CA120147 |
72 | G>E | Cardiomyopathy-hypotonia-lactic acidosis syndrome MPCD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001255140 rs2097595072 |
200 | L>W | Cardiomyopathy-hypotonia-lactic acidosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772819565 RCV000264879 CA6733103 |
240 | R>C | Cardiomyopathy-hypotonia-lactic acidosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001255138 rs2097597579 |
296 | G>QIP | Cardiomyopathy-hypotonia-lactic acidosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515435 rs200537764 CA322549 RCV000198073 |
311 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA324476 RCV000199928 rs11544657 RCV002517261 |
336 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6732781 CA386161467 rs778865084 |
2 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA6732782 rs745834499 |
3 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6732783 rs771945609 |
4 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779723568 CA6732784 |
5 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs891665180 CA242234159 |
5 | V>L | No |
ClinGen TOPMed |
|
|
CA6732785 rs746747395 |
7 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs750905518 CA6732786 |
7 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145180863 CA6732787 |
8 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438711832 CA386161540 |
9 | A>T | No |
ClinGen gnomAD |
|
|
rs1328563877 CA386161550 |
10 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386161548 rs1328563877 |
10 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386161546 rs1275455194 |
10 | R>W | No |
ClinGen gnomAD |
|
|
COSM1365044 COSM1365046 CA386161556 rs1368158297 COSM1365045 |
11 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs747708858 CA6732788 |
12 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965392239 CA242234215 |
12 | N>S | No |
ClinGen TOPMed |
|
|
CA386161565 rs1331004642 |
13 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
RCV000497482 rs1331004642 CA386161567 |
13 | P>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA386161566 rs1331004642 |
13 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6732789 rs376364595 |
13 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266622660 CA386161574 |
14 | F>L | No |
ClinGen gnomAD |
|
|
CA386161572 rs1271649634 |
14 | F>S | No |
ClinGen TOPMed |
|
|
CA386161581 rs1449727123 |
15 | N>I | No |
ClinGen gnomAD |
|
|
rs143988295 CA6732790 |
16 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386161594 rs1269046637 |
17 | P>L | No |
ClinGen gnomAD |
|
|
rs1294003725 CA386161590 |
17 | P>S | No |
ClinGen gnomAD |
|
|
rs373087005 CA6732791 |
18 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774650310 CA6732793 |
20 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294189726 CA386161616 |
21 | L>R | No |
ClinGen TOPMed |
|
|
rs576492133 CA6732795 |
22 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752887242 CA6732796 |
23 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs863224206 RCV000199062 CA323599 |
23 | H>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs756286717 CA6732797 |
24 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386161632 rs1324780714 |
24 | D>N | No |
ClinGen gnomAD |
|
|
CA6732798 rs375913781 |
25 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA242234327 rs573155106 |
27 | G>R | No |
ClinGen Ensembl |
|
|
rs1592973977 CA386161656 |
28 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 29 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386161667 rs1239506515 |
30 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386161690 rs1264575216 |
33 | S>P | No |
ClinGen gnomAD |
|
|
rs1463684283 CA386161699 |
34 | P>L | No |
ClinGen TOPMed |
|
|
CA6732799 rs753853875 |
34 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6732800 rs758332287 |
35 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242234348 rs11544639 |
36 | P>S | No |
ClinGen Ensembl |
|
|
CA386161714 rs1266521594 |
37 | T>R | No |
ClinGen gnomAD |
|
|
rs1253528033 CA386161721 |
38 | G>D | No |
ClinGen gnomAD |
|
|
CA6732802 rs537772538 |
39 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6732804 rs780745859 |
41 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242234367 rs780745859 |
41 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386161740 rs11544649 |
42 | R>C | No |
ClinGen gnomAD |
|
|
CA242234396 rs994574335 |
42 | R>H | No |
ClinGen Ensembl |
|
| TCGA novel | 43 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242234403 rs1044154623 |
44 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386161759 rs1197217870 |
45 | N>K | No |
ClinGen TOPMed |
|
|
rs140436387 CA6732806 |
45 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140436387 CA6732805 |
45 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386161764 rs1220709884 |
46 | L>R | No |
ClinGen gnomAD |
|
|
rs1309860069 CA386161770 |
47 | A>V | No |
ClinGen gnomAD |
|
|
CA386161773 rs1257004760 |
48 | A>G | No |
ClinGen TOPMed |
|
|
rs1027801539 CA242234407 |
48 | A>T | No |
ClinGen gnomAD |
|
|
CA386161784 rs1310842695 |
50 | A>S | No |
ClinGen gnomAD |
|
|
CA386161785 rs1283915271 |
50 | A>V | No |
ClinGen TOPMed |
|
|
rs1483596251 CA386161792 |
51 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386161794 rs1183816024 |
52 | E>K | No |
ClinGen gnomAD |
|
|
CA6732854 CA386163706 rs747423687 |
53 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6732855 rs768977329 |
54 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6732856 rs776939388 |
59 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs897335192 CA242235623 |
62 | G>R | No |
ClinGen Ensembl |
|
|
rs762115323 COSM944853 COSM1586827 CA6732857 |
64 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386163797 rs1198339579 |
66 | I>S | No |
ClinGen TOPMed |
|
|
rs773409442 CA6732859 |
67 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs769842104 CA6732858 |
67 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386163819 rs1228399910 |
70 | L>V | No |
ClinGen gnomAD |
|
|
CA6732861 rs767615650 |
74 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6732860 rs762929476 |
74 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6732862 rs752654627 |
75 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA386163856 rs1480130173 |
76 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs760652614 CA6732863 |
77 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1199322592 CA386163875 |
79 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 80 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764006781 CA6732864 |
81 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764006781 CA386163890 |
81 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1565829259 CA386163912 |
85 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 87 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242235702 rs201917299 |
88 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs756936677 CA6732866 |
89 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1317878731 CA386163936 |
89 | V>G | No |
ClinGen TOPMed |
|
|
rs1592975209 CA386163955 |
92 | R>* | No |
ClinGen Ensembl |
|
|
RCV000195983 CA320374 RCV002515434 rs750003586 |
93 | M>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6732868 rs757880650 |
94 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA386163993 rs1221351893 |
94 | Q>P | No |
ClinGen TOPMed |
|
|
CA386165604 rs1480802616 |
98 | Q>* | No |
ClinGen TOPMed |
|
|
CA386165615 rs1364286922 |
98 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 102 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6732946 rs377411083 |
103 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386165677 rs1185027606 |
103 | I>V | No |
ClinGen Ensembl |
|
|
CA386165691 rs1418453816 |
104 | F>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 108 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs956371610 CA242238163 |
109 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386165726 rs956371610 |
109 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1592976995 CA386165734 |
110 | T>I | No |
ClinGen Ensembl |
|
|
rs1592977006 CA386165739 |
111 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 113 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759128015 CA6732948 |
114 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6732949 rs771691279 |
117 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774932712 CA6732950 |
117 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6732951 rs760216637 |
118 | G>C | No |
ClinGen ExAC |
|
|
rs973840405 CA242238259 |
118 | G>D | No |
ClinGen Ensembl |
|
|
CA6732953 rs754361399 |
122 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs11544644 CA242238280 |
123 | W>L | No |
ClinGen Ensembl |
|
|
CA386165948 rs1393527030 |
124 | A>T | No |
ClinGen TOPMed |
|
|
CA6732954 rs762366125 |
125 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs78903795 CA6732956 |
127 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386166020 rs1592977074 |
127 | F>L | No |
ClinGen Ensembl |
|
|
CA386166030 rs1470836040 |
128 | L>F | No |
ClinGen gnomAD |
|
|
CA386166025 rs1470836040 |
128 | L>I | No |
ClinGen gnomAD |
|
|
rs1176814682 CA386166096 |
132 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA242238299 rs745900423 |
132 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386166101 rs1176814682 |
132 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1451622658 CA386166142 |
134 | G>R | No |
ClinGen gnomAD |
|
|
CA386166165 rs975251517 |
135 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA242238303 rs975251517 |
135 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6732957 rs758552650 |
136 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1385687334 CA386166249 |
139 | G>S | No |
ClinGen gnomAD |
|
|
CA242238308 rs11544643 |
140 | F>L | No |
ClinGen Ensembl |
|
|
CA242238318 rs199748741 |
144 | F>S | No |
ClinGen 1000Genomes |
|
|
rs1268948001 CA386166368 |
145 | K>E | No |
ClinGen gnomAD |
|
|
rs1375870878 CA386166392 |
146 | V>A | No |
ClinGen TOPMed |
|
|
CA386166391 rs1375870878 |
146 | V>D | No |
ClinGen TOPMed |
|
|
rs755055464 CA6732959 |
147 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA6732960 COSM1628952 COSM1628951 rs781211096 COSM1628950 |
150 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6732961 rs749246798 |
152 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6732986 rs779670781 |
156 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768364106 CA6732988 |
160 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1308371775 CA386166781 |
163 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6732989 rs758946085 |
165 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs143778494 CA6732990 |
167 | A>D | No |
ClinGen ESP ExAC |
|
|
CA386166808 rs1410717764 |
167 | A>S | No |
ClinGen TOPMed |
|
|
CA386166812 rs11544653 |
168 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 173 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 174 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773738510 CA6732992 |
174 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6732993 rs763329270 |
178 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113400751 CA242239028 |
180 | L>R | No |
ClinGen Ensembl |
|
|
CA6732995 rs774523597 |
180 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6732996 rs377617675 |
181 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386166906 rs1271156554 |
183 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1309429225 CA386166934 |
187 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752836073 CA6732998 |
190 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA386166958 rs1477309625 |
190 | I>M | No |
ClinGen TOPMed |
|
|
CA242239051 rs927530483 |
193 | Q>* | No |
ClinGen gnomAD |
|
|
CA386166976 rs1365963740 |
193 | Q>R | No |
ClinGen TOPMed |
|
|
rs765123723 CA6733000 |
194 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs568025994 CA6733001 |
195 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751243839 CA6733004 |
198 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs779911174 CA6733003 |
198 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1147151 rs754743636 COSM696232 CA6733005 |
199 | T>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs899476257 CA242239095 |
201 | R>T | No |
ClinGen TOPMed |
|
|
rs1592977737 CA386167033 |
202 | D>E | No |
ClinGen Ensembl |
|
|
CA386167029 rs1468517470 |
202 | D>H | No |
ClinGen gnomAD |
|
|
CA6733006 rs147351479 |
202 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384097884 CA386167040 |
203 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1592977755 CA386167044 |
204 | A>V | No |
ClinGen Ensembl |
|
|
CA6733008 rs565558081 |
205 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1437591336 CA386167067 |
207 | M>I | No |
ClinGen gnomAD |
|
|
CA242239137 rs996812877 |
208 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA242239147 rs372985455 |
208 | Y>C | No |
ClinGen gnomAD |
|
|
CA6733010 rs771278101 |
209 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs940760543 CA242239187 |
212 | G>A | No |
ClinGen gnomAD |
|
|
rs940760543 CA386167142 |
212 | G>D | No |
ClinGen gnomAD |
|
|
CA6733011 rs774848219 |
212 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 213 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6733012 rs137911305 |
215 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1451893475 CA386168030 |
216 | F>L | No |
ClinGen TOPMed |
|
|
CA386168041 rs1434634926 |
217 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM338493 CA386168034 COSM338492 rs1233007942 |
217 | Y>H | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA242240680 rs112661141 |
218 | K>E | No |
ClinGen Ensembl |
|
|
CA242240681 rs113030047 |
218 | K>T | No |
ClinGen Ensembl |
|
|
rs911963538 CA242240685 |
219 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386168085 rs373621664 |
220 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6733095 rs373621664 |
220 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202241756 RCV002885497 CA322302 |
221 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA242240703 rs961147473 |
225 | M>V | No |
ClinGen TOPMed |
|
|
CA242240747 rs544908200 |
232 | M>L | No |
ClinGen 1000Genomes |
|
|
CA6733099 rs768568887 |
233 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs143480678 CA6733101 |
236 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386168347 rs1286877421 |
237 | C>F | No |
ClinGen gnomAD |
|
|
CA386168387 rs1565831673 |
240 | R>H | No |
ClinGen Ensembl |
|
| TCGA novel | 241 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367721810 CA6733104 |
242 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6733105 rs765887081 |
244 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1191493718 CA386168449 |
246 | Y>F | No |
ClinGen gnomAD |
|
|
rs1261437295 CA386168510 |
250 | V>G | No |
ClinGen TOPMed |
|
|
CA386168523 rs1249541061 |
251 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751015313 CA6733106 |
252 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489247694 CA386168530 |
252 | K>R | No |
ClinGen TOPMed |
|
|
rs1160353620 CA386168550 |
253 | P>L | No |
ClinGen gnomAD |
|
|
rs1160353620 CA386168548 |
253 | P>R | No |
ClinGen gnomAD |
|
|
rs1383943998 CA386168543 |
253 | P>T | No |
ClinGen gnomAD |
|
|
CA6733107 rs370953752 |
254 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386168558 rs1169669937 |
254 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6733109 rs753053824 |
255 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs117836188 RCV000757773 CA6733110 |
255 | S>N | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs778247220 CA6733111 |
256 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 258 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386168615 rs1325680545 |
258 | S>A | No |
ClinGen TOPMed |
|
|
rs1325680545 CA386168610 |
258 | S>T | No |
ClinGen TOPMed |
|
|
rs1592979547 CA386168652 |
260 | P>A | No |
ClinGen Ensembl |
|
|
rs762467445 CA242240809 |
262 | Q>* | No |
ClinGen Ensembl |
|
|
rs1380810635 CA386168725 |
263 | L>Q | No |
ClinGen TOPMed |
|
|
rs1393066477 CA386168757 |
265 | V>L | No |
ClinGen TOPMed |
|
|
rs754140239 CA6733112 |
272 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386169026 rs1169281008 |
274 | G>A | No |
ClinGen gnomAD |
|
|
CA386169032 rs1353141402 |
275 | V>L | No |
ClinGen gnomAD |
|
|
rs761596402 CA6733130 |
279 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242241760 rs907401332 |
284 | A>P | No |
ClinGen TOPMed |
|
|
CA6733132 rs765481924 |
286 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757617119 CA6733131 |
286 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758471384 CA6733134 |
288 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1293640446 CA386169465 |
290 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | L>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435784030 CA386169495 |
294 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 294 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 295 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200224700 CA386169507 |
296 | G>C | No |
ClinGen gnomAD |
|
|
rs779956730 CA6733135 |
297 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs748105249 CA6733136 |
298 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6733137 rs755979879 |
299 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386169531 rs1392461602 |
300 | S>A | No |
ClinGen TOPMed |
|
|
CA386169534 rs1396303868 |
300 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386169545 rs1185602201 |
302 | V>A | No |
ClinGen gnomAD |
|
|
rs1472810770 CA386169541 |
302 | V>I | No |
ClinGen gnomAD |
|
|
rs1416859807 CA386169554 |
304 | K>E | No |
ClinGen gnomAD |
|
|
rs777613085 CA6733138 |
304 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6733139 rs749070065 |
310 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242241981 rs11544656 |
311 | V>A | No |
ClinGen Ensembl |
|
|
CA6733155 rs766494028 |
312 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 314 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs188826663 CA242241998 |
314 | G>V | No |
ClinGen 1000Genomes |
|
|
CA386169638 rs1479634318 |
315 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386169648 rs751633669 CA6733156 |
316 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6733157 rs756100831 |
320 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386169684 rs1402501231 |
320 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1158573320 CA386169695 |
321 | M>V | No |
ClinGen TOPMed |
|
|
CA386169713 rs1470652074 |
322 | I>V | No |
ClinGen gnomAD |
|
|
rs757104627 CA6733160 |
326 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA386169823 rs1344667652 |
330 | W>S | No |
ClinGen gnomAD |
|
| TCGA novel | 331 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433946525 CA386169838 |
331 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 332 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771553727 CA6733163 |
332 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1026183185 CA242242068 |
332 | I>V | No |
ClinGen gnomAD |
|
|
CA6733165 rs373384258 |
335 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs11544657 CA386169904 |
336 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs962814485 CA242242121 |
338 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs762187869 CA6733168 |
339 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386169950 rs762187869 |
339 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770217680 CA6733169 |
342 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242242169 rs563726277 |
343 | P>L | No |
ClinGen 1000Genomes |
|
|
rs369550906 CA242242160 |
343 | P>S | No |
ClinGen Ensembl |
|
|
rs773392242 CA6733170 |
344 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6733164 rs779585311 |
344 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386170024 rs1286441327 |
345 | P>S | No |
ClinGen TOPMed |
|
|
rs1205733951 CA386170035 |
346 | P>A | No |
ClinGen TOPMed |
|
|
CA6733172 rs766574510 |
346 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363878083 CA386170064 |
348 | P>H | No |
ClinGen gnomAD |
|
|
rs759578766 CA6733174 |
349 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA242242190 rs1017861834 |
349 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386170119 rs1306925334 |
352 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 353 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240158414 CA386170135 |
353 | S>Y | No |
ClinGen gnomAD |
|
|
rs79081160 CA6733178 |
357 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1291094509 CA386170208 |
358 | L>P | No |
ClinGen gnomAD |
|
|
rs1177341315 CA386170238 |
360 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1592980821 CA386170251 |
362 | Q>E | No |
ClinGen Ensembl |
1 associated diseases with Q00325
[MIM: 610773]: Mitochondrial phosphate carrier deficiency (MPCD)
An autosomal recessive disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. {ECO:0000269|PubMed:17273968}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. {ECO:0000269|PubMed:17273968}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for Q00325
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Mitochondrial substrate/solute carrier | 63 - 150 | IPR018108-1 |
| repeat | Mitochondrial substrate/solute carrier | 160 - 247 | IPR018108-2 |
| repeat | Mitochondrial substrate/solute carrier | 261 - 340 | IPR018108-3 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| integral component of mitochondrial inner membrane | The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| inorganic phosphate transmembrane transporter activity | Enables the transfer of a inorganic phosphate from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy. Secondary active transporters include symporters and antiporters. |
| phosphate:proton symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: phosphate(out) + H+(out) = phosphate(in) + H+(in). |
| protein-containing complex binding | Binding to a macromolecular complex. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| mitochondrial phosphate ion transmembrane transport | The process in which a phosphate ion is transported across a mitochondrial membrane, into or out of the mitochondrion. |
| phosphate ion transmembrane transport | The process in which a phosphate is transported across a membrane. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P12234 | SLC25A3 | Phosphate carrier protein, mitochondrial | Bos taurus (Bovine) | PR |
| Q8VEM8 | Slc25a3 | Phosphate carrier protein, mitochondrial | Mus musculus (Mouse) | PR |
| P16036 | Slc25a3 | Phosphate carrier protein, mitochondrial | Rattus norvegicus (Rat) | PR |
| P40614 | F01G4.6 | Phosphate carrier protein, mitochondrial | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFSSVAHLAR | ANPFNTPHLQ | LVHDGLGDLR | SSSPGPTGQP | RRPRNLAAAA | VEEQYSCDYG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGRFFILCGL | GGIISCGTTH | TALVPLDLVK | CRMQVDPQKY | KGIFNGFSVT | LKEDGVRGLA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KGWAPTFLGY | SMQGLCKFGF | YEVFKVLYSN | MLGEENTYLW | RTSLYLAASA | SAEFFADIAL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| APMEAAKVRI | QTQPGYANTL | RDAAPKMYKE | EGLKAFYKGV | APLWMRQIPY | TMMKFACFER |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TVEALYKFVV | PKPRSECSKP | EQLVVTFVAG | YIAGVFCAIV | SHPADSVVSV | LNKEKGSSAS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LVLKRLGFKG | VWKGLFARII | MIGTLTALQW | FIYDSVKVYF | RLPRPPPPEM | PESLKKKLGL |
| TQ |