Q96LK0
PR
Gene name |
CEP19 (C3orf34, HSD5) |
Protein name |
Centrosomal protein of 19 kDa |
Names |
Cep19 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84984 |
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 Q96LK0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96LK0-F1 | Predicted | AlphaFoldDB |
144 variants for Q96LK0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs916554453 RCV001043937 RCV002552541 CA90867908 |
33 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553794304 CA658683376 RCV000585772 |
61 | Y>* | Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000106311 CA150777 rs587777230 RCV001208623 |
78 | R>* | Obesity due to CEP19 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs755223201 CA2782181 |
2 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376653086 CA355635005 |
3 | C>R | No |
ClinGen gnomAD |
|
|
CA90867948 rs1037396184 |
4 | T>S | No |
ClinGen Ensembl |
|
|
CA355634984 rs751648666 |
5 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751648666 CA2782180 |
5 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766456892 CA2782179 |
6 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA355634935 rs1415521742 |
9 | G>R | No |
ClinGen TOPMed |
|
|
CA2782176 rs765788516 |
13 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs759207817 CA2782172 |
15 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1326528499 CA355634872 |
18 | I>T | No |
ClinGen TOPMed |
|
|
CA355634875 rs1210097009 |
18 | I>V | No |
ClinGen gnomAD |
|
|
rs1272541225 CA355634864 |
19 | L>F | No |
ClinGen TOPMed |
|
|
rs1274535222 CA355634859 |
20 | I>N | No |
ClinGen gnomAD |
|
|
CA90867924 rs909736737 |
21 | Y>F | No |
ClinGen Ensembl |
|
|
CA355634822 rs1347102171 |
25 | I>F | No |
ClinGen TOPMed |
|
|
CA355634818 rs1214759109 |
25 | I>M | No |
ClinGen gnomAD |
|
|
rs369776818 CA2782170 |
27 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355634807 rs369776818 |
27 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773774549 CA2782171 |
27 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs377505112 CA2782169 |
29 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2782168 rs773149461 |
30 | R>C | No |
ClinGen ExAC gnomAD |
|
|
RCV001342376 rs773149461 |
30 | R>G | No |
ClinVar dbSNP |
|
|
rs372601480 CA2782167 |
30 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355634785 rs1463328516 |
31 | Q>* | No |
ClinGen TOPMed |
|
|
RCV001309154 rs201359879 CA2782166 |
31 | Q>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355634778 rs1356324447 RCV001235311 |
32 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001041317 rs374921346 CA2782165 |
32 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA355634777 rs374921346 |
32 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs191619856 CA2782164 |
33 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001338693 CA355634748 rs1476033976 |
37 | R>* | Variant assessed as Somatic; 0.000232 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA355634749 rs1476033976 |
37 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2782163 RCV001324547 rs185280915 |
38 | N>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
|
CA355634737 rs1257997638 |
39 | F>L | No |
ClinGen gnomAD |
|
|
CA355634722 rs1187092263 RCV001039969 |
41 | K>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2782161 rs369304064 |
44 | D>H | No |
ClinGen ESP ExAC |
|
| TCGA novel | 44 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308269033 CA355634686 |
44 | D>V | No |
ClinGen gnomAD |
|
|
rs762205604 CA90867588 |
47 | R>G | No |
ClinGen Ensembl |
|
|
rs776975903 CA2782137 |
50 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2782136 rs752995208 |
51 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90867544 rs915379840 |
53 | K>M | No |
ClinGen Ensembl |
|
|
CA2782134 rs762578885 |
53 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2782133 rs181652552 |
54 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201525134 CA2782132 |
56 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001202585 rs776649604 CA2782130 |
57 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs554079648 CA355634602 |
57 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554079648 CA355634603 |
57 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2782129 rs554079648 |
57 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001222807 rs760588587 CA2782128 |
58 | H>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1195019395 CA355634591 |
59 | K>T | No |
ClinGen gnomAD |
|
|
RCV001212627 rs1711584645 |
60 | S>missing | No |
ClinVar dbSNP |
|
|
rs921547925 CA90867505 |
60 | S>G | No |
ClinGen TOPMed |
|
|
CA355634584 rs1454445492 |
60 | S>N | No |
ClinGen gnomAD |
|
|
CA90867502 rs977380727 |
63 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1189113416 CA355634561 |
63 | E>D | No |
ClinGen gnomAD |
|
|
rs372464850 CA2782127 |
66 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372464850 CA90867486 |
66 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA90867463 rs1028022292 |
67 | L>P | No |
ClinGen Ensembl |
|
|
CA355634528 rs1215670921 |
69 | Q>* | No |
ClinGen gnomAD |
|
|
rs746061097 CA2782125 |
71 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2782121 rs778350935 |
75 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200134493 CA2782120 |
75 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201883289 CA90867438 |
78 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA355634467 rs201883289 |
78 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA2782119 rs748568940 |
79 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA355634460 rs781512914 |
80 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs781512914 CA2782118 |
80 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001314355 rs1711581562 |
81 | L>S | No |
ClinVar dbSNP |
|
|
CA2782117 rs543733692 |
82 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782116 rs543733692 |
82 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756801863 CA355634438 |
83 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2782114 rs756801863 |
83 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1355114571 CA355634437 |
84 | Q>* | No |
ClinGen gnomAD |
|
|
CA355634418 rs1173472875 |
86 | L>P | No |
ClinGen gnomAD |
|
|
rs1262846098 CA355634416 |
87 | A>T | No |
ClinGen gnomAD |
|
|
rs1438667850 CA355634389 |
90 | M>I | No |
ClinGen TOPMed |
|
|
RCV000939454 rs139813132 CA2782112 |
91 | E>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs749298363 CA90867379 |
94 | Q>R | No |
ClinGen Ensembl |
|
|
rs201163650 CA2782110 |
95 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001349916 rs145982014 CA2782108 |
95 | R>P | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs145982014 CA2782107 |
95 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201163650 CA2782109 |
95 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355634352 rs1374503762 |
96 | E>V | No |
ClinGen TOPMed |
|
|
rs774728749 CA2782106 |
97 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288671576 CA355634334 |
99 | I>T | No |
ClinGen TOPMed |
|
|
RCV001338591 rs1711579193 |
99 | I>V | No |
ClinVar dbSNP |
|
|
rs773150686 CA2782103 |
100 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773150686 CA2782104 |
100 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308352771 CA355634329 |
100 | D>Y | No |
ClinGen gnomAD |
|
|
CA90867282 rs1037141648 |
101 | P>S | No |
ClinGen TOPMed |
|
|
rs770381019 CA2782102 |
102 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338164537 CA355634301 |
104 | D>G | No |
ClinGen gnomAD |
|
|
CA2782101 rs748622284 |
105 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2782099 rs367800805 |
106 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355634290 rs1170352063 |
106 | N>T | No |
ClinGen gnomAD |
|
|
rs747315524 CA2782098 |
108 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001043594 CA90867222 rs909639081 |
110 | D>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs778631034 CA2782097 |
111 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355634256 rs1477011464 |
111 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1048109523 CA90867211 |
112 | E>G | No |
ClinGen TOPMed |
|
|
rs1411939750 CA355634251 |
112 | E>Q | No |
ClinGen TOPMed |
|
|
rs1369954738 CA355634241 |
113 | L>P | No |
ClinGen TOPMed |
|
|
rs763482424 CA2782094 |
116 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755645971 CA2782093 |
118 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1197698186 CA355634194 |
120 | M>K | No |
ClinGen gnomAD |
|
|
CA2782092 rs752707848 |
121 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976944099 CA90867197 |
121 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs751310879 CA2782089 |
124 | F>L | No |
ClinGen ExAC |
|
|
rs527513703 CA2782090 |
124 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2782088 rs766679746 |
126 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782087 rs763060905 |
130 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2782085 rs769791036 |
132 | D>Y | No |
ClinGen ExAC |
|
|
rs1282744712 CA355634101 |
133 | D>N | No |
ClinGen TOPMed |
|
|
rs1376541000 CA355634091 |
134 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 137 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2782083 rs761831283 |
137 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA355634062 rs1247639222 |
138 | Y>C | No |
ClinGen TOPMed |
|
|
CA355634055 rs1392561963 |
139 | D>G | No |
ClinGen gnomAD |
|
|
CA90867140 rs745837660 |
140 | I>T | No |
ClinGen Ensembl |
|
|
CA355634049 rs1315226052 |
140 | I>V | No |
ClinGen TOPMed |
|
|
rs780261359 CA2782080 |
142 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs780261359 CA2782079 |
142 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2782077 rs748925250 |
145 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs777435231 CA2782076 |
146 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs752192357 CA355633995 |
148 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752192357 CA2782074 |
148 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2782073 rs781348239 |
149 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA355633975 rs1419698188 |
151 | Q>E | No |
ClinGen gnomAD |
|
|
rs370531035 CA2782072 |
151 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766053526 CA2782070 |
155 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1577658732 CA355633938 |
156 | D>G | No |
ClinGen Ensembl |
|
|
CA90867101 RCV001323227 rs966047768 |
156 | D>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1355388632 CA355633921 RCV001069696 |
158 | E>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA355633918 rs1282301973 |
159 | S>A | No |
ClinGen gnomAD |
|
|
rs1282301973 CA355633920 |
159 | S>T | No |
ClinGen gnomAD |
|
|
CA355633911 rs1241130808 |
160 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA355633913 rs1241130808 |
160 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1577658702 CA355633888 |
163 | F>V | No |
ClinGen Ensembl |
1 associated diseases with Q96LK0
[MIM: 615703]: Morbid obesity and spermatogenic failure (MOSPGF)
An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40. {ECO:0000269|PubMed:24268657}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40. {ECO:0000269|PubMed:24268657}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q96LK0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96LK0 | |||
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| microtubule anchoring at centrosome | Any process in which a microtubule is maintained in a specific location in a cell by attachment to a centrosome. |
| vesicle targeting, trans-Golgi to periciliary membrane compartment | The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMCTAKKCGI | RFQPPAIILI | YESEIKGKIR | QRIMPVRNFS | KFSDCTRAAE | QLKNNPRHKS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YLEQVSLRQL | EKLFSFLRGY | LSGQSLAETM | EQIQRETTID | PEEDLNKLDD | KELAKRKSIM |
| 130 | 140 | 150 | 160 | ||
| DELFEKNQKK | KDDPNFVYDI | EVEFPQDDQL | QSCGWDTESA | DEF |