Q4LDG9
PR
Gene name |
DNAL1 |
Protein name |
Dynein axonemal light chain 1 |
Names |
LC1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83544 |
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
2 structures for Q4LDG9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8J07 | EM | 410 A | m3/o3/q3 | 1-190 | PDB |
| AF-Q4LDG9-F1 | Predicted | AlphaFoldDB |
127 variants for Q4LDG9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs779309893 RCV000340271 |
8 | K>missing | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763932147 RCV001210267 CA7261399 |
12 | A>T | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs948104206 RCV000700999 CA262642831 |
12 | A>V | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002517379 rs774964160 RCV000205311 CA349472 |
27 | E>D | Primary ciliary dyskinesia 16 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390321274 rs1595207277 RCV000811931 |
61 | E>Q | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876657637 RCV000800978 RCV000217678 |
74 | I>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7261453 RCV000648990 rs781680294 |
74 | I>R | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1595224083 RCV000812379 |
97 | E>missing | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501178 RCV000462817 |
129 | D>missing | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000155525 rs141873943 CA182963 RCV001088090 RCV000723999 |
139 | L>V | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1477757 COSM1477758 RCV000190934 rs387907021 RCV000023801 CA342751 VAR_065739 |
150 | N>S | Variant assessed as Somatic; impact. Kartagener syndrome breast Primary ciliary dyskinesia 16 CILD16; reduced tethering interaction between DNAH5 and tubulin [NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA390334281 RCV000818323 rs1595225843 |
158 | A>S | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468574 CA7261501 rs372572996 |
162 | W>* | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7261502 rs190778454 RCV000805409 |
164 | E>K | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000792540 rs1294769916 |
168 | K>missing | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301139 rs1892115500 |
177 | D>G | Primary ciliary dyskinesia 16 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390318305 rs752349290 |
2 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7261395 rs752349290 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762585015 CA7261396 |
3 | K>T | No |
ClinGen ExAC TOPMed |
|
|
rs866739576 CA262642822 |
5 | T>K | No |
ClinGen Ensembl |
|
|
CA390318341 rs1330604962 |
6 | T>K | No |
ClinGen gnomAD |
|
|
CA390318440 rs1595202074 |
10 | A>G | No |
ClinGen Ensembl |
|
|
rs1209858966 CA390318426 |
10 | A>T | No |
ClinGen gnomAD |
|
|
CA390318463 rs1263082027 |
11 | L>F | No |
ClinGen gnomAD |
|
|
rs948104206 CA390318479 |
12 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA390318505 rs1418668541 |
13 | R>K | No |
ClinGen gnomAD |
|
|
CA390318508 rs1418668541 |
13 | R>T | No |
ClinGen gnomAD |
|
|
CA390319700 rs1399227058 |
20 | Q>K | No |
ClinGen TOPMed |
|
|
rs772287450 CA7261410 |
20 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198872568 CA390319745 |
22 | P>L | No |
ClinGen gnomAD |
|
|
CA7261412 rs550967876 |
27 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs550967876 CA7261413 |
27 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1359480952 CA390319841 |
28 | I>M | No |
ClinGen gnomAD |
|
|
CA390319857 rs1428893963 |
29 | K>R | No |
ClinGen gnomAD |
|
|
rs1376981119 CA390319886 |
31 | Y>D | No |
ClinGen TOPMed |
|
|
CA390319916 rs1305770518 |
33 | Q>* | No |
ClinGen gnomAD |
|
|
rs1390555481 CA390319919 |
33 | Q>R | No |
ClinGen gnomAD |
|
|
CA7261414 rs762639902 |
34 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481457782 CA390319931 |
34 | I>V | No |
ClinGen TOPMed |
|
|
CA390319961 rs1409892132 |
35 | P>R | No |
ClinGen gnomAD |
|
|
CA7261415 rs763705136 |
36 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7261416 rs570969955 |
37 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390320000 rs1302613060 |
38 | E>G | No |
ClinGen gnomAD |
|
|
CA262644783 rs1051225356 |
38 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7261417 rs373365623 |
40 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 41 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390320076 rs1226700672 |
44 | L>V | No |
ClinGen gnomAD |
|
|
rs750381368 CA390320110 CA7261419 |
46 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222041121 CA390320115 |
47 | L>F | No |
ClinGen gnomAD |
|
|
rs756001510 CA7261420 |
48 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 49 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 50 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536740472 CA7261421 |
51 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA262646827 rs927921791 |
55 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1249626029 CA390321153 |
56 | S>P | No |
ClinGen gnomAD |
|
|
CA390321206 rs1162259609 |
58 | N>H | No |
ClinGen gnomAD |
|
|
rs1406598032 CA390321241 |
59 | C>W | No |
ClinGen gnomAD |
|
|
CA390321226 rs1411236517 |
59 | C>Y | No |
ClinGen gnomAD |
|
|
CA7261438 rs766391356 |
60 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA390321262 rs766391356 |
60 | I>T | No |
ClinGen ExAC gnomAD |
|
| rs1387292289 | 63 | I>N | Variant assessed as Somatic; 5.651e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456050029 CA390321344 |
64 | A>T | No |
ClinGen gnomAD |
|
|
rs1211637414 CA390321364 |
65 | N>D | No |
ClinGen gnomAD |
|
|
rs374916869 CA7261439 |
67 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262646836 rs563174339 |
69 | L>F | No |
ClinGen Ensembl |
|
|
CA390325976 rs1431025845 |
71 | N>K | No |
ClinGen TOPMed |
|
|
CA390325983 rs1448984006 |
72 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390326058 rs1163501997 |
74 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390326059 rs1163501997 |
74 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390326220 rs1199814646 |
79 | R>K | No |
ClinGen gnomAD |
|
|
CA7261458 rs768157433 |
82 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1587603 CA390326343 rs1443958208 COSM1587602 |
83 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA262653117 rs768385226 |
88 | L>V | No |
ClinGen Ensembl |
|
|
rs759538255 CA7261470 |
89 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346829170 CA390332071 |
93 | D>E | No |
ClinGen gnomAD |
|
|
CA390332080 rs1467214557 |
94 | T>I | No |
ClinGen TOPMed |
|
|
rs765461745 CA7261471 |
96 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1252878067 CA390332154 |
99 | W>* | No |
ClinGen TOPMed |
|
|
CA390332208 rs1292745600 |
102 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 104 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390332285 rs1320038176 |
105 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7261473 rs758684326 |
106 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA390332387 rs1206860495 |
108 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764253125 CA7261474 |
113 | I>V | No |
ClinGen ExAC |
|
|
CA7261475 rs751754576 |
116 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535885451 CA7261478 |
117 | L>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535885451 CA7261477 |
117 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535885451 CA7261479 |
117 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1168414600 COSM1587600 CA390332625 COSM1587601 |
121 | Y>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs778536948 CA7261480 |
122 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA390332709 rs1168745561 |
125 | N>K | No |
ClinGen gnomAD |
|
|
CA390332734 rs1338701151 |
127 | V>A | No |
ClinGen gnomAD |
|
|
CA390332741 rs1385208482 |
128 | K>E | No |
ClinGen gnomAD |
|
|
CA919450893 rs1566890719 |
128 | K>IITC* | No |
ClinGen Ensembl |
|
|
CA390332766 rs1234069737 |
129 | D>G | No |
ClinGen Ensembl |
|
|
CA7261483 rs368673801 |
130 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371358792 CA263514672 |
130 | W>R | No |
ClinGen ESP TOPMed |
|
|
CA7261497 rs756654860 |
141 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1208595780 CA390333925 CA390333931 |
144 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA390334029 rs1466506003 |
148 | V>A | No |
ClinGen gnomAD |
|
|
rs1037739634 CA263515790 |
148 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA390334090 rs1306951337 |
151 | P>A | No |
ClinGen TOPMed |
|
|
rs780459682 CA7261499 |
154 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390334186 rs1302536816 |
154 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs776888880 CA263515794 |
157 | S>A | No |
ClinGen gnomAD |
|
|
CA390334256 rs776888880 |
157 | S>T | No |
ClinGen gnomAD |
|
|
CA390334287 rs1472335746 |
158 | A>V | No |
ClinGen gnomAD |
|
|
rs754325250 CA7261500 |
160 | N>S | No |
ClinGen ExAC |
|
|
rs1397819202 CA390334334 |
161 | N>S | No |
ClinGen gnomAD |
|
|
rs1422355063 CA390334329 |
161 | N>Y | No |
ClinGen TOPMed |
|
|
CA263515798 rs972321310 |
164 | E>A | No |
ClinGen TOPMed |
|
|
rs1364293961 CA390334411 |
165 | E>D | No |
ClinGen gnomAD |
|
|
CA390334418 rs1226160389 |
166 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781170779 CA390334440 |
167 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781170779 CA390334437 |
167 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781170779 CA7261505 |
167 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7261506 rs745686826 |
170 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 171 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286992943 CA390334527 |
173 | L>R | No |
ClinGen gnomAD |
|
|
CA263515805 rs867585871 |
175 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 176 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305577915 CA390337389 |
184 | G>V | No |
ClinGen gnomAD |
|
|
rs1297999579 CA390337407 |
185 | D>H | No |
ClinGen TOPMed |
|
|
CA390337528 rs1235974438 |
189 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1345412145 CA390337560 |
190 | N>S | No |
ClinGen TOPMed |
1 associated diseases with Q4LDG9
[MIM: 614017]: Ciliary dyskinesia, primary, 16 (CILD16)
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:21496787}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:21496787}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for Q4LDG9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 49 - 70 | IPR001611-1 |
| repeat | Leucine-rich repeat | 71 - 92 | IPR001611-2 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| outer dynein arm | Outer arm structure present on the outer doublet microtubules of ciliary and flagellar axonemes. Outer dynein arms contain 2-3 heavy chains, two or more intermediate chains and a cluster of 4-8 light chains. Inner and outer dynein arms have different functions in the generation of microtubule-based motility. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| alpha-tubulin binding | Binding to the microtubule constituent protein alpha-tubulin. |
| dynein heavy chain binding | Binding to a heavy chain of the dynein complex. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| outer dynein arm assembly | The aggregation, arrangement and bonding together of a set of components to form an axonemal dynein outer arm, an outer arm structure present on the outer doublet microtubules of ciliary and flagellar axonemes. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IYG6 | LRRC56 | Leucine-rich repeat-containing protein 56 | Homo sapiens (Human) | PR |
| Q96M69 | LRGUK | Leucine-rich repeat and guanylate kinase domain-containing protein | Homo sapiens (Human) | PR |
| Q6ZRR7 | LRRC9 | Leucine-rich repeat-containing protein 9 | Homo sapiens (Human) | PR |
| Q9H069 | DRC3 | Dynein regulatory complex subunit 3 | Homo sapiens (Human) | PR |
| Q8N1F8 | STK11IP | Serine/threonine-protein kinase 11-interacting protein | Homo sapiens (Human) | PR |
| Q9DAP0 | Lrrc46 | Leucine-rich repeat-containing protein 46 | Mus musculus (Mouse) | PR |
| Q9D5S7 | Lrguk | Leucine-rich repeat and guanylate kinase domain-containing protein | Mus musculus (Mouse) | PR |
| Q6DIQ3 | ppp1r7 | Protein phosphatase 1 regulatory subunit 7 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKATTIKEA | LARWEEKTGQ | RPSEAKEIKL | YAQIPPIEKM | DASLSMLANC | EKLSLSTNCI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EKIANLNGLK | NLRILSLGRN | NIKNLNGLEA | VGDTLEELWI | SYNFIEKLKG | IHIMKKLKIL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YMSNNLVKDW | AEFVKLAELP | CLEDLVFVGN | PLEEKHSAEN | NWIEEATKRV | PKLKKLDGTP |
| VIKGDEEEDN |