Q9Y605
Gene name |
MRFAP1 |
Protein name |
MORF4 family-associated protein 1 |
Names |
Protein PGR1, Protein associated with MRG of 14 kDa |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:93621 |
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 Q9Y605
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y605-F1 | Predicted | AlphaFoldDB |
108 variants for Q9Y605
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs772362053 CA2841614 |
2 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs773553368 CA356188845 |
4 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747445625 CA2841616 |
6 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1461776413 CA356188876 |
7 | V>L | No |
ClinGen gnomAD |
|
|
rs868476557 CA91847648 |
10 | A>V | No |
ClinGen Ensembl |
|
|
rs1374785752 CA356188909 |
11 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1374785752 CA356188910 |
11 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1444814864 CA356188924 |
12 | P>L | No |
ClinGen TOPMed |
|
|
rs1160534700 CA356188932 |
13 | E>A | No |
ClinGen gnomAD |
|
|
CA91847662 rs202160929 |
13 | E>Q | No |
ClinGen TOPMed |
|
|
rs11537685 CA91847689 |
15 | V>E | No |
ClinGen 1000Genomes |
|
|
rs11537685 CA91847706 |
15 | V>G | No |
ClinGen 1000Genomes |
|
|
rs1577307006 CA356188978 |
17 | V>G | No |
ClinGen Ensembl |
|
|
CA2841624 rs750076071 |
19 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA356189000 rs1380000413 |
20 | P>S | No |
ClinGen gnomAD |
|
|
CA2841627 rs753836065 |
21 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2841629 rs779056217 |
27 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356189111 rs1577307030 |
31 | V>G | No |
ClinGen Ensembl |
|
|
CA356189128 rs1203323255 |
33 | N>S | No |
ClinGen gnomAD |
|
|
CA2841631 rs758545780 |
35 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1178240560 CA356189189 |
39 | I>V | No |
ClinGen gnomAD |
|
|
rs916310316 CA356189198 |
40 | A>S | No |
ClinGen TOPMed |
|
|
rs916310316 CA91847799 |
40 | A>T | No |
ClinGen TOPMed |
|
|
rs1029150677 CA91847826 |
41 | S>* | No |
ClinGen Ensembl |
|
|
rs947847923 CA91847812 |
41 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1430476737 CA356189228 |
43 | T>M | No |
ClinGen gnomAD |
|
|
CA2841635 rs776816659 |
46 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746387796 CA2841636 |
48 | R>L | No |
ClinGen ExAC |
|
|
rs1372504794 CA356189294 |
50 | Y>F | No |
ClinGen gnomAD |
|
|
CA2841638 rs530805744 |
51 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1324067697 CA356189323 |
53 | N>K | No |
ClinGen gnomAD |
|
|
CA2841639 rs761381560 |
53 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs766987420 CA91847843 |
54 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250896241 CA356189368 |
58 | W>L | No |
ClinGen gnomAD |
|
|
rs1479925763 CA356189377 |
59 | E>K | No |
ClinGen gnomAD |
|
|
CA356189378 rs1479925763 |
59 | E>Q | No |
ClinGen gnomAD |
|
|
CA356189392 rs1202285685 |
60 | M>L | No |
ClinGen gnomAD |
|
|
CA2841645 rs758663636 |
62 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758599781 CA2841648 |
63 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2841647 rs752649249 |
63 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA91847901 rs918376402 |
63 | M>V | No |
ClinGen gnomAD |
|
|
CA91847907 rs1036300699 |
64 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1036300699 CA356189439 |
64 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757485811 CA2841651 |
68 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA356189488 rs1243079171 |
68 | K>R | No |
ClinGen gnomAD |
|
|
CA91847922 rs981270371 |
69 | T>M | No |
ClinGen gnomAD |
|
|
rs1364334480 CA356189524 |
72 | E>K | No |
ClinGen gnomAD |
|
|
rs1294915433 CA356189551 |
74 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225316673 CA356189597 |
78 | A>S | No |
ClinGen gnomAD |
|
|
rs143781974 CA2841653 |
78 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2841657 rs376105401 |
79 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA356189626 rs772670195 |
81 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2841660 rs772670195 |
81 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA91848040 rs11537686 |
83 | Q>H | No |
ClinGen Ensembl |
|
|
CA356189652 rs1220145697 |
84 | N>D | No |
ClinGen TOPMed |
|
|
rs142456119 CA2841663 |
85 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2841664 rs146471805 |
85 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91848050 rs142456119 |
85 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356189667 rs1424002241 |
86 | G>S | No |
ClinGen gnomAD |
|
|
rs781153322 CA91848071 |
87 | D>G | No |
ClinGen Ensembl |
|
|
rs752703537 CA2841666 |
87 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs764270385 CA2841668 |
90 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA356189709 rs1269861697 |
90 | E>K | No |
ClinGen gnomAD |
|
|
rs751629143 CA356189734 |
92 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751629143 CA2841669 |
92 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139039647 CA91848089 |
93 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139039647 CA2841670 |
93 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756488660 CA2841673 |
94 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2841672 rs529892353 |
94 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs529892353 CA356189744 |
94 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2841671 COSM588047 rs529892353 |
94 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs756488660 CA356189745 |
94 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1358775793 CA356189751 |
95 | K>E | No |
ClinGen TOPMed |
|
|
rs780421191 CA356189754 |
95 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780421191 CA2841674 |
95 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs377063696 CA91848130 |
96 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356189791 rs1241162488 |
98 | E>D | No |
ClinGen gnomAD |
|
|
CA356189804 rs201872980 |
99 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA356189795 rs1463119149 |
99 | K>Q | No |
ClinGen gnomAD |
|
|
rs1385390631 CA356189812 |
100 | A>V | No |
ClinGen gnomAD |
|
|
rs1161413659 CA356189823 |
101 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 101 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356189836 rs1409835547 |
102 | E>D | No |
ClinGen gnomAD |
|
|
rs1016548821 CA91848133 |
102 | E>G | No |
ClinGen Ensembl |
|
|
rs777280370 CA2841678 |
103 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746588171 CA2841679 |
104 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1430574 rs141440565 CA2841680 |
105 | K>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2841681 rs776194851 |
105 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759178401 CA2841682 |
106 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2841683 rs769503832 |
107 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs969078262 CA91848158 |
108 | A>G | No |
ClinGen TOPMed |
|
|
rs1446405373 CA356189905 |
109 | K>R | No |
ClinGen gnomAD |
|
|
CA2841684 rs775354541 |
110 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs762995094 CA2841685 |
111 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2841686 rs150400295 |
113 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2841687 rs751540717 |
114 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2841688 rs761842070 CA91848181 |
115 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356189969 rs1350520760 |
116 | E>Q | No |
ClinGen TOPMed |
|
|
rs375474191 CA91848197 |
117 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1302102372 CA356189998 |
119 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA356190002 rs1470503746 |
120 | R>G | No |
ClinGen gnomAD |
|
|
CA2841692 rs766734285 |
121 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1471068213 CA356190021 |
122 | E>Q | No |
ClinGen gnomAD |
|
|
rs866289712 CA91848231 |
123 | K>E | No |
ClinGen Ensembl |
|
|
CA2841693 rs754145197 |
123 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2841695 rs779435276 |
126 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2841696 rs748664722 |
127 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9Y605
No regional properties for Q9Y605
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y605 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3ZC61 | MRFAP1 | MORF4 family-associated protein 1 | Bos taurus (Bovine) | PR |
| Q96HT8 | MRFAP1L1 | MORF4 family-associated protein 1-like 1 | Homo sapiens (Human) | PR |
| Q9CQL7 | Mrfap1 | MORF4 family-associated protein 1 | Mus musculus (Mouse) | PR |
| Q5M820 | Mrfap1 | MORF4 family-associated protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRPLDIVELA | EPEEVEVLEP | EEDFEQFLLP | VINEMREDIA | SLTREHGRAY | LRNRSKLWEM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DNMLIQIKTQ | VEASEESALN | HLQNPGDAAE | GRAAKRCEKA | EEKAKEIAKM | AEMLVELVRR |
| IEKSESS |