Q9H488
PR
Gene name |
POFUT1 (FUT12, KIAA0180) |
Protein name |
GDP-fucose protein O-fucosyltransferase 1 |
Names |
Peptide-O-fucosyltransferase 1, O-FucT-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23509 |
EC number |
2.4.1.221: Hexosyltransferases |
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
3 structures for Q9H488
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5UX6 | X-ray | 209 A | A/B | 24-384 | PDB |
| 5UXH | X-ray | 241 A | A/B | 24-384 | PDB |
| AF-Q9H488-F1 | Predicted | AlphaFoldDB |
171 variants for Q9H488
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000691945 CA9807100 rs368413950 |
30 | D>E | Dowling-Degos disease 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569152303 RCV000696298 CA408548863 |
97 | Q>* | Dowling-Degos disease 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000050207 CA144510 rs398123038 |
144 | E>* | Variant assessed as Somatic; impact. Dowling-Degos disease 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs886041033 RCV000050208 |
161 | K>missing | Dowling-Degos disease 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210235 rs578147902 |
213 | V>L | Dowling-Degos disease 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000892135 rs79984831 RCV002225764 |
251 | M>V | Dowling-Degos disease 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748328963 RCV001351604 |
262 | M>V | Dowling-Degos disease 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000955046 rs35968884 RCV001726384 |
313 | E>K | Dowling-Degos disease 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001672855 VAR_049231 rs17268666 RCV000557054 |
322 | L>F | Dowling-Degos disease 2 [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
rs370777228 CA9807080 |
3 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9807081 rs766503770 |
3 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749309004 CA313873883 |
4 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749309004 CA9807083 |
4 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408544199 rs1284160718 |
5 | A>P | No |
ClinGen gnomAD |
|
|
CA9807084 rs778630208 |
5 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9807085 rs752658183 |
7 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA408544232 rs1450459116 |
8 | R>W | No |
ClinGen gnomAD |
|
|
rs777311168 CA9807087 |
9 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600380778 CA408544287 |
13 | S>C | No |
ClinGen Ensembl |
|
|
rs1389920220 CA408545102 |
16 | L>Q | No |
ClinGen gnomAD |
|
|
CA9807091 rs745479645 |
16 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs769174950 CA9807092 |
19 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408545156 rs1445821244 |
20 | P>R | No |
ClinGen gnomAD |
|
|
CA408545184 rs772695718 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs772695718 CA9807095 |
22 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772695718 CA408545182 |
22 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1365440046 CA408545198 |
23 | G>A | No |
ClinGen TOPMed |
|
|
CA408545203 rs1264994673 |
24 | M>L | No |
ClinGen gnomAD |
|
|
rs773407006 CA9807096 |
25 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs1216021796 CA408545253 |
26 | A>V | No |
ClinGen gnomAD |
|
|
rs1042889008 CA313873972 |
27 | G>V | No |
ClinGen Ensembl |
|
|
CA408545306 rs1457559110 |
29 | W>* | No |
ClinGen gnomAD |
|
|
rs766420398 CA9807098 |
29 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs754025432 CA9807099 |
30 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA313873996 rs555288977 |
31 | P>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA408545337 rs555288977 |
31 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1181890031 CA408545354 |
32 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408545382 rs1367322304 |
33 | G>S | No |
ClinGen gnomAD |
|
|
rs765055989 CA9807101 |
34 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA408545429 rs1166963702 |
35 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs867609748 CA313874010 |
39 | P>T | No |
ClinGen Ensembl |
|
|
CA408545543 rs1296302042 |
40 | C>Y | No |
ClinGen gnomAD |
|
|
rs1375780634 CA408545580 |
42 | G>R | No |
ClinGen gnomAD |
|
|
rs761191707 CA9807116 |
43 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1411049 COSM1411048 rs1279139950 CA408546477 |
43 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA408546498 rs1484510119 |
45 | G>R | No |
ClinGen gnomAD |
|
|
CA9807119 rs759801588 |
49 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs370909689 CA9807118 |
49 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9807121 rs775625035 |
50 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs762752243 CA9807122 |
50 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA9807123 rs763902006 |
51 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1725925 COSM1725924 rs751482931 CA313875928 |
54 | S>P | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751482931 CA9807124 |
54 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9807125 rs757192494 |
55 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1291098420 CA408546689 |
59 | K>E | No |
ClinGen gnomAD |
|
|
rs1386534847 CA408546726 |
63 | R>C | No |
ClinGen gnomAD |
|
|
rs148829108 CA9807127 |
63 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148829108 CA408546730 |
63 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408546741 rs1235950838 |
65 | L>W | No |
ClinGen gnomAD |
|
|
CA408546776 rs1280632632 |
69 | P>S | No |
ClinGen gnomAD |
|
|
COSM1153903 CA408546793 COSM1025697 rs1315755522 |
70 | W>C | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA313875961 rs538485488 |
71 | I>F | No |
ClinGen 1000Genomes |
|
|
rs1449429169 COSM1190234 CA408546799 COSM1190235 |
71 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs779855384 CA9807129 |
72 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA408546829 rs1388356762 |
73 | Y>S | No |
ClinGen TOPMed |
|
|
rs142484235 CA9807130 |
76 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9807134 rs771446102 |
79 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA408547048 rs1237998801 |
82 | N>D | No |
ClinGen gnomAD |
|
|
CA9807137 rs745942782 |
82 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763123143 CA9807140 |
82 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9807138 rs745942782 |
82 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9807136 rs745942782 |
82 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757665235 CA9807168 |
83 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9807169 rs781498319 |
85 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA408548647 rs1291339141 |
85 | V>M | No |
ClinGen gnomAD |
|
|
rs200012852 CA9807171 |
87 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9807170 rs750970150 |
87 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9807174 rs768555228 |
88 | Q>H | No |
ClinGen ExAC |
|
|
rs749368911 CA9807173 |
88 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1474906476 CA408548740 |
90 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA408548736 rs908068916 |
90 | Y>D | No |
ClinGen gnomAD |
|
|
CA313880782 rs908068916 |
90 | Y>H | No |
ClinGen gnomAD |
|
|
CA408548763 rs1420648166 |
91 | F>C | No |
ClinGen gnomAD |
|
|
CA9807176 rs372275365 |
91 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408548789 rs1337685205 |
92 | K>N | No |
ClinGen TOPMed |
|
|
rs1329758042 CA408548800 |
93 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 98 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9807179 rs760740357 |
98 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs776347303 CA9807181 |
101 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770978581 CA9807180 |
101 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413601925 CA408549001 |
102 | V>A | No |
ClinGen gnomAD |
|
|
CA9807182 rs759090331 |
103 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483783476 CA408549067 |
106 | E>A | No |
ClinGen gnomAD |
|
|
CA408549111 rs1057157737 |
109 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1057157737 CA313880859 |
109 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs930012454 CA313880860 |
110 | E>K | No |
ClinGen TOPMed |
|
|
rs752428552 CA9807184 |
111 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9807186 rs767918144 |
114 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1184027366 CA408549229 |
115 | T>I | No |
ClinGen gnomAD |
|
|
CA9807187 rs375423418 |
117 | W>C | No |
ClinGen ESP TOPMed |
|
|
rs896724429 CA313880878 |
117 | W>R | No |
ClinGen Ensembl |
|
|
CA313880902 rs1012877534 |
118 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs750777918 CA9807189 |
119 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750777918 CA408549322 |
119 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259634021 CA408549352 |
121 | K>E | No |
ClinGen gnomAD |
|
|
rs147591957 CA9807191 |
122 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs572512321 CA9807190 |
122 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA408549382 rs1600386222 |
123 | V>G | No |
ClinGen Ensembl |
|
|
CA9807192 rs754244276 |
124 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755104805 CA9807193 |
124 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs369818845 CA313880957 |
133 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369818845 CA9807196 |
133 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9807197 rs777768127 |
133 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746795917 CA9807198 |
134 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs770780417 CA9807200 |
135 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770780417 CA9807199 |
135 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA313880983 rs999915651 |
136 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9807201 rs745753667 |
137 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408549649 rs1280165035 |
138 | K>N | No |
ClinGen TOPMed |
|
|
rs769388652 CA9807202 |
139 | T>M | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA313881004 rs1010068876 |
140 | C>R | No |
ClinGen Ensembl |
|
|
rs1019316308 CA313881021 |
141 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA408549719 rs1305202787 |
142 | M>V | No |
ClinGen TOPMed |
|
|
rs200235955 CA9807227 |
146 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1273147397 CA408550592 |
148 | F>C | No |
ClinGen gnomAD |
|
|
CA408550594 rs1343897425 |
148 | F>L | No |
ClinGen TOPMed |
|
|
CA408550602 rs760143361 |
150 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9807229 rs760143361 |
150 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM345124 CA408550607 rs1254485161 |
151 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs765657013 CA9807230 |
153 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765657013 CA9807231 |
153 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317634198 CA408550634 |
154 | Q>H | No |
ClinGen TOPMed |
|
|
rs970869152 CA313881884 |
154 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA408550633 rs970869152 |
154 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA313881886 rs147101027 |
156 | H>R | No |
ClinGen ESP TOPMed |
|
|
CA313881892 rs779220520 |
159 | F>C | No |
ClinGen Ensembl |
|
|
rs373374751 CA9807232 |
160 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408550717 rs1479880914 |
161 | K>N | No |
ClinGen TOPMed |
|
|
rs751871832 CA9807234 |
162 | S>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1592544 rs757533393 COSM1025699 CA408550727 |
162 | S>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9807235 rs757533393 |
162 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191722705 CA408550747 |
164 | L>I | No |
ClinGen TOPMed |
|
|
CA9807239 rs779872984 |
167 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA313881970 rs1033925692 |
168 | I>T | No |
ClinGen TOPMed |
|
|
rs376664217 COSM356107 CA9807240 |
168 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA313881971 rs267605877 |
169 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs768189746 CA9807241 |
171 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA9807242 rs778360418 |
174 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs747844958 CA9807243 |
179 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA313882001 rs761410603 |
179 | S>R | No |
ClinGen Ensembl |
|
|
CA408550958 rs1476885655 |
180 | Q>R | No |
ClinGen gnomAD |
|
|
rs111490563 CA313882006 |
181 | R>G | No |
ClinGen Ensembl |
|
| rs747113854 | 182 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770936289 | 183 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756851381 | 195 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs949920379 | 198 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1306054782 | 217 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 225 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 239 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745383992 | 265 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 280 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752809888 | 300 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs921426547 | 311 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 339 | V>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749782165 | 345 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs35259534 VAR_049232 |
348 | D>N | No |
UniProt dbSNP |
|
| TCGA novel | 359 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1165070275 | 364 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1351092758 | 366 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756587591 | 372 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q9H488
[MIM: 615327]: Dowling-Degos disease 2 (DDD2)
An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. {ECO:0000269|PubMed:23684010}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. {ECO:0000269|PubMed:23684010}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9H488
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H488 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.221 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| fucosyltransferase activity | Catalysis of the transfer of a fucosyl group to an acceptor molecule, typically another carbohydrate or a lipid. |
| peptide-O-fucosyltransferase activity | Catalysis of the transfer of an alpha-L-fucosyl residue from GDP- beta-L-fucose to the serine hydroxy group of a protein acceptor. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| fucose metabolic process | The chemical reactions and pathways involving fucose, or 6-deoxygalactose, which has two enantiomers, D-fucose and L-fucose. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| Notch signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| O-glycan processing | The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure. |
| protein O-linked fucosylation | The process of transferring a fucosyl group to a serine or threonine residues in a protein acceptor molecule, to form an O-linked protein-sugar linkage. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of Notch signaling pathway | Any process that modulates the frequency, rate or extent of the Notch signaling pathway. |
| somitogenesis | The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6EV69 | POFUT1 | GDP-fucose protein O-fucosyltransferase 1 | Pan troglodytes (Chimpanzee) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGAAAWARPL | SVSFLLLLLP | LPGMPAGSWD | PAGYLLYCPC | MGRFGNQADH | FLGSLAFAKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LNRTLAVPPW | IEYQHHKPPF | TNLHVSYQKY | FKLEPLQAYH | RVISLEDFME | KLAPTHWPPE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KRVAYCFEVA | AQRSPDKKTC | PMKEGNPFGP | FWDQFHVSFN | KSELFTGISF | SASYREQWSQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RFSPKEHPVL | ALPGAPAQFP | VLEEHRPLQK | YMVWSDEMVK | TGEAQIHAHL | VRPYVGIHLR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IGSDWKNACA | MLKDGTAGSH | FMASPQCVGY | SRSTAAPLTM | TMCLPDLKEI | QRAVKLWVRS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LDAQSVYVAT | DSESYVPELQ | QLFKGKVKVV | SLKPEVAQVD | LYILGQADHF | IGNCVSSFTA |
| 370 | 380 | ||||
| FVKRERDLQG | RPSSFFGMDR | PPKLRDEF |