Q9Y3E1
Gene name |
HDGFL3 |
Protein name |
Hepatoma-derived growth factor-related protein 3 |
Names |
HRP-3, Hepatoma-derived growth factor 2, HDGF-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:50810 |
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
117 variants for Q9Y3E1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1453088922 CA393314427 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA393314424 rs1395510807 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA393314418 rs1463740501 |
3 | R>L | No |
ClinGen gnomAD |
|
|
CA393314401 rs1373679790 |
6 | P>L | No |
ClinGen gnomAD |
|
|
CA7703682 rs751477122 |
7 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs764106646 CA7703681 |
7 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393314389 rs1469972532 |
8 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1231600119 CA393314388 |
9 | Y>N | No |
ClinGen gnomAD |
|
|
rs1203349272 CA393314367 |
11 | A>V | No |
ClinGen TOPMed |
|
|
rs1483427154 CA393314356 |
13 | D>G | No |
ClinGen TOPMed |
|
|
CA393314313 rs1248880614 |
19 | M>I | No |
ClinGen gnomAD |
|
|
rs910220280 CA273506615 |
21 | G>C | No |
ClinGen TOPMed |
|
|
rs1418612575 CA393314280 |
24 | H>P | No |
ClinGen TOPMed |
|
|
rs1416727025 CA393320809 |
34 | E>A | No |
ClinGen gnomAD |
|
|
CA393320754 rs1179267703 |
42 | N>K | No |
ClinGen TOPMed |
|
|
rs1449599571 CA393320740 |
44 | Y>C | No |
ClinGen gnomAD |
|
|
rs1172332473 CA393320729 |
46 | I>V | No |
ClinGen gnomAD |
|
| rs1567170453 | 49 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393320688 rs1384525474 |
51 | T>I | No |
ClinGen gnomAD |
|
|
rs559173257 CA7703641 |
54 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7703619 rs779885695 |
57 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 59 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284242851 CA393319680 |
60 | K>E | No |
ClinGen gnomAD |
|
|
CA7703618 rs757419110 |
64 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA393319611 rs1375984187 |
65 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1375984187 CA393319609 |
65 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 70 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393319544 rs1344276226 |
72 | F>L | No |
ClinGen gnomAD |
|
|
CA393319537 rs1300709314 |
73 | G>R | No |
ClinGen gnomAD |
|
|
rs758456840 CA7703615 |
78 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1426059260 CA393319500 |
78 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA393319469 rs145113533 |
82 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373778313 CA7703613 |
83 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1267088572 CA393319422 |
89 | E>Q | No |
ClinGen gnomAD |
|
|
rs1201662800 CA393319414 |
90 | N>D | No |
ClinGen gnomAD |
|
|
CA273512671 rs917961875 |
90 | N>S | No |
ClinGen Ensembl |
|
|
rs1201662800 CA393319413 |
90 | N>Y | No |
ClinGen gnomAD |
|
|
CA7703610 rs766698301 |
92 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273512647 rs992291510 |
96 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772870099 CA7703608 |
97 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747659212 CA393319352 |
99 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs201298885 CA273512646 |
99 | Y>C | No |
ClinGen Ensembl |
|
|
rs11546524 CA273512238 |
101 | A>G | No |
ClinGen Ensembl |
|
|
CA393319092 rs11546524 |
101 | A>V | No |
ClinGen Ensembl |
|
|
rs200230620 CA7703584 |
102 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1029857853 CA273512231 |
103 | Q>R | No |
ClinGen TOPMed |
|
|
CA7703583 rs554837315 |
104 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7703582 rs762467126 |
105 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7703581 rs775359190 |
105 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA273512189 rs994754800 |
106 | S>R | No |
ClinGen Ensembl |
|
|
CA393319014 rs1304753878 |
107 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170470520 CA393318878 |
114 | G>S | No |
ClinGen gnomAD |
|
|
CA393318866 rs1408893011 |
115 | G>R | No |
ClinGen gnomAD |
|
|
rs199682422 CA273512186 |
117 | T>I | No |
ClinGen Ensembl |
|
|
CA393318763 rs1168390472 |
120 | A>V | No |
ClinGen gnomAD |
|
|
CA7703579 rs769653213 |
121 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA273512177 rs961091056 |
123 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1464807803 CA393318686 |
124 | E>G | No |
ClinGen TOPMed |
|
|
CA273512169 rs542804499 |
126 | G>D | No |
ClinGen gnomAD |
|
|
CA7703578 rs745645445 |
127 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016644390 CA273512168 |
129 | V>I | No |
ClinGen gnomAD |
|
|
CA393318563 rs1446796969 |
130 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 130 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393318568 rs1201779251 |
130 | E>Q | No |
ClinGen gnomAD |
|
|
rs1567168933 CA393318527 |
131 | E>D | No |
ClinGen Ensembl |
|
|
rs1483356064 CA393318517 |
132 | D>V | No |
ClinGen gnomAD |
|
|
rs1005142659 CA273512140 |
133 | G>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 133 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA393318498 rs1331098792 |
133 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA273512130 rs147777221 |
134 | K>Q | No |
ClinGen ESP TOPMed |
|
|
rs780899046 CA7703576 |
135 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393318403 rs1298167820 |
138 | K>R | No |
ClinGen gnomAD |
|
|
CA7703575 rs535249266 |
139 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393318378 rs1380249447 |
140 | E>K | No |
ClinGen gnomAD |
|
|
rs1314567198 CA393318366 |
140 | E>V | No |
ClinGen gnomAD |
|
|
rs1396436479 CA393318312 |
143 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7703574 rs748314372 |
146 | R>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1719039 CA273512096 rs748314372 |
146 | R>Q | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA273512073 rs370356351 |
150 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431630854 CA393318208 |
150 | Y>H | No |
ClinGen gnomAD |
|
|
rs370356351 CA7703573 |
150 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393318172 rs1185596503 |
152 | S>L | No |
ClinGen gnomAD |
|
|
rs1163452027 CA393318167 |
153 | K>E | No |
ClinGen gnomAD |
|
|
rs1225283916 CA393316857 |
158 | Q>E | No |
ClinGen TOPMed |
|
|
rs1284607933 CA393316823 |
159 | S>P | No |
ClinGen TOPMed |
|
|
COSM297235 rs781730104 CA7703547 |
160 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781098686 CA273507669 |
160 | R>W | No |
ClinGen gnomAD |
|
|
rs1383484540 CA393316778 |
161 | K>Q | No |
ClinGen gnomAD |
|
|
rs1161793568 CA393316753 |
162 | S>T | No |
ClinGen gnomAD |
|
|
CA273507665 rs868583090 |
164 | G>V | No |
ClinGen Ensembl |
|
|
rs757571791 CA7703546 |
165 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 169 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567167475 CA393316576 |
170 | D>H | No |
ClinGen Ensembl |
|
|
CA393316548 rs1298106037 |
171 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA393316534 rs1476721760 |
172 | K>R | No |
ClinGen gnomAD |
|
|
CA393316488 rs1440756170 |
174 | E>K | No |
ClinGen gnomAD |
|
|
CA7703544 rs763707408 |
177 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs917837315 CA273507619 |
179 | S>R | No |
ClinGen TOPMed |
|
|
rs990706628 CA273507608 |
183 | G>E | No |
ClinGen TOPMed |
|
|
COSM244873 rs1446324632 CA393316249 |
185 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7703542 rs188845179 |
186 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393316218 rs188845179 |
186 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393316205 rs1172051462 |
187 | N>S | No |
ClinGen TOPMed |
|
|
rs981197648 CA273507553 |
188 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7703540 rs759098896 |
189 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA393316151 rs1347160614 |
189 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393316152 rs1347160614 |
189 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA393316136 rs1333908919 |
190 | R>S | No |
ClinGen TOPMed |
|
|
CA393316094 rs1275477672 |
193 | T>A | No |
ClinGen gnomAD |
|
|
rs1444228562 CA393316083 |
193 | T>I | No |
ClinGen TOPMed |
|
|
CA393316040 rs1226844496 |
196 | L>M | No |
ClinGen gnomAD |
|
|
rs776381808 CA7703539 |
200 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA393315959 rs1567167441 |
200 | S>N | No |
ClinGen Ensembl |
|
|
CA393315914 rs1436275682 |
201 | E>D | No |
ClinGen gnomAD |
|
|
rs766448688 CA7703538 |
202 | G>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9Y3E1
4 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 region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| double-stranded DNA binding | Binding to double-stranded DNA. |
| growth factor activity | The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| tubulin binding | Binding to monomeric or multimeric forms of tubulin, including microtubules. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| microtubule polymerization | The addition of tubulin heterodimers to one or both ends of a microtubule. |
| negative regulation of microtubule depolymerization | Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol. |
| neuron projection development | The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8MJG1 | PSIP1 | PC4 and SFRS1-interacting protein | Bos taurus (Bovine) | PR |
| Q9XSK7 | HDGF | Hepatoma-derived growth factor | Bos taurus (Bovine) | PR |
| Q66T72 | PSIP1 | PC4 and SFRS1-interacting protein | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q5XXA9 | PSIP1 | Lens epithelium-derived growth factor | Gallus gallus (Chicken) | PR |
| P51858 | HDGF | Hepatoma-derived growth factor | Homo sapiens (Human) | PR |
| O75475 | PSIP1 | PC4 and SFRS1-interacting protein | Homo sapiens (Human) | PR |
| Q7Z4V5 | HDGFL2 | Hepatoma-derived growth factor-related protein 2 | Homo sapiens (Human) | PR |
| Q99JF8 | Psip1 | PC4 and SFRS1-interacting protein | Mus musculus (Mouse) | PR |
| P51859 | Hdgf | Hepatoma-derived growth factor | Mus musculus (Mouse) | PR |
| Q9JMG7 | Hdgfl3 | Hepatoma-derived growth factor-related protein 3 | Mus musculus (Mouse) | PR |
| Q812D1 | Psip1 | PC4 and SFRS1-interacting protein | Rattus norvegicus (Rat) | PR |
| Q8VHK7 | Hdgf | Hepatoma-derived growth factor | Rattus norvegicus (Rat) | PR |
| Q923W4 | Hdgfl3 | Hepatoma-derived growth factor-related protein 3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARPRPREYK | AGDLVFAKMK | GYPHWPARID | ELPEGAVKPP | ANKYPIFFFG | THETAFLGPK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLFPYKEYKD | KFGKSNKRKG | FNEGLWEIEN | NPGVKFTGYQ | AIQQQSSSET | EGEGGNTADA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSEEEGDRVE | EDGKGKRKNE | KAGSKRKKSY | TSKKSSKQSR | KSPGDEDDKD | CKEEENKSSS |
| 190 | 200 | ||||
| EGGDAGNDTR | NTTSDLQKTS | EGT |