Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Contribution of cytochrome P450 4A isoforms to renal functional response to inhibition of nitric oxide production in the rat. | Hercule HC, etal., J Physiol. 2003 Sep 15;551(Pt 3):971-9. Epub 2003 Jul 11. |
3. | Association of the T8590C polymorphism of CYP4A11 with hypertension in the MONICA Augsburg echocardiographic substudy. | Mayer B, etal., Hypertension. 2005 Oct;46(4):766-71. Epub 2005 Sep 6. |
4. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
5. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1739747 | PMID:7679927 | PMID:7798189 | PMID:8274222 | PMID:8363569 | PMID:8914854 | PMID:9618440 | PMID:9799565 | PMID:10024026 | PMID:10660572 | PMID:10860550 | PMID:11139583 |
PMID:11736898 | PMID:11821421 | PMID:12464261 | PMID:12464262 | PMID:12477932 | PMID:15028279 | PMID:15128046 | PMID:15145985 | PMID:15319333 | PMID:15611369 | PMID:16957555 | PMID:18227405 |
PMID:18300855 | PMID:18385420 | PMID:18391101 | PMID:18433732 | PMID:18484194 | PMID:18574070 | PMID:18624398 | PMID:18660489 | PMID:18936345 | PMID:19343046 | PMID:19366684 | PMID:19615687 |
PMID:19898482 | PMID:20130494 | PMID:21326303 | PMID:21617944 | PMID:21820496 | PMID:21873635 | PMID:21873888 | PMID:21886157 | PMID:21912424 | PMID:22327816 | PMID:22804341 | PMID:23085321 |
PMID:23376485 | PMID:23859711 | PMID:24164311 | PMID:24278241 | PMID:24535879 | PMID:24816252 | PMID:24931260 | PMID:25064769 | PMID:25203493 | PMID:25734770 | PMID:25760539 | PMID:25947240 |
PMID:26423716 | PMID:26959478 | PMID:27087514 | PMID:27298316 | PMID:27756246 | PMID:27793475 | PMID:28514442 | PMID:28533430 | PMID:28534704 | PMID:29484037 | PMID:30132788 | PMID:32124935 |
PMID:32141150 | PMID:32373936 |
CYP4A11 (Homo sapiens - human) |
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CYP4A11 (Pan paniscus - bonobo/pygmy chimpanzee) |
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.
Variants in CYP4A11
27 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] | Chr1:39479787..47688131 [GRCh38] Chr1:39945459..48153803 [GRCh37] Chr1:39718046..47926390 [NCBI36] Chr1:1p34.3-33 |
pathogenic |
NM_000778.3(CYP4A11):c.927G>A (p.Lys309=) | single nucleotide variant | Malignant melanoma [RCV000060203] | Chr1:46934337 [GRCh38] Chr1:47400009 [GRCh37] Chr1:47172596 [NCBI36] Chr1:1p33 |
not provided |
NM_000778.3(CYP4A11):c.718G>A (p.Asp240Asn) | single nucleotide variant | Malignant melanoma [RCV000060204] | Chr1:46935072 [GRCh38] Chr1:47400744 [GRCh37] Chr1:47173331 [NCBI36] Chr1:1p33 |
not provided |
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 | copy number loss | not provided [RCV000762767] | Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 | copy number loss | See cases [RCV000448358] | Chr1:45303358..52157856 [GRCh37] Chr1:1p34.1-32.3 |
likely pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_000778.4(CYP4A11):c.731G>A (p.Ser244Asn) | single nucleotide variant | Inborn genetic diseases [RCV003243646] | Chr1:46935059 [GRCh38] Chr1:47400731 [GRCh37] Chr1:1p33 |
uncertain significance |
GRCh37/hg19 1p33(chr1:47344057-47421549)x1 | copy number loss | not provided [RCV000684565] | Chr1:47344057..47421549 [GRCh37] Chr1:1p33 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p33(chr1:47305191-47416441)x3 | copy number gain | not provided [RCV000736483] | Chr1:47305191..47416441 [GRCh37] Chr1:1p33 |
benign |
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 | copy number gain | Global developmental delay [RCV000787285] | Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1 |
uncertain significance |
NM_000778.4(CYP4A11):c.337+9G>A | single nucleotide variant | not provided [RCV000901931] | Chr1:46937987 [GRCh38] Chr1:47403659 [GRCh37] Chr1:1p33 |
benign |
NM_000778.4(CYP4A11):c.1461C>T (p.Ile487=) | single nucleotide variant | not provided [RCV000954841] | Chr1:46930214 [GRCh38] Chr1:47395886 [GRCh37] Chr1:1p33 |
benign |
GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1 | copy number loss | not provided [RCV001005086] | Chr1:47272184..52505405 [GRCh37] Chr1:1p33-32.3 |
pathogenic |
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) | copy number gain | not specified [RCV002052781] | Chr1:33285582..47891811 [GRCh37] Chr1:1p35.1-33 |
pathogenic |
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856) | copy number loss | not specified [RCV002053281] | Chr1:45303358..52157856 [GRCh37] Chr1:1p34.1-32.3 |
likely pathogenic |
NM_000778.4(CYP4A11):c.1021C>A (p.Pro341Thr) | single nucleotide variant | Inborn genetic diseases [RCV002753396] | Chr1:46934243 [GRCh38] Chr1:47399915 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.259C>G (p.Pro87Ala) | single nucleotide variant | Inborn genetic diseases [RCV002946899] | Chr1:46938074 [GRCh38] Chr1:47403746 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.1474G>T (p.Ala492Ser) | single nucleotide variant | Inborn genetic diseases [RCV002882797] | Chr1:46930201 [GRCh38] Chr1:47395873 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.122G>A (p.Arg41Lys) | single nucleotide variant | Inborn genetic diseases [RCV002868521] | Chr1:46941312 [GRCh38] Chr1:47406984 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.509T>C (p.Leu170Pro) | single nucleotide variant | Inborn genetic diseases [RCV002703989] | Chr1:46936665 [GRCh38] Chr1:47402337 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.1154C>T (p.Pro385Leu) | single nucleotide variant | Inborn genetic diseases [RCV002757362] | Chr1:46934014 [GRCh38] Chr1:47399686 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.430C>T (p.Arg144Trp) | single nucleotide variant | Inborn genetic diseases [RCV002784808] | Chr1:46936744 [GRCh38] Chr1:47402416 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.548T>C (p.Leu183Pro) | single nucleotide variant | Inborn genetic diseases [RCV002641722] | Chr1:46935610 [GRCh38] Chr1:47401282 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.748C>T (p.Arg250Cys) | single nucleotide variant | Inborn genetic diseases [RCV002874475] | Chr1:46935042 [GRCh38] Chr1:47400714 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.1189G>T (p.Val397Phe) | single nucleotide variant | Inborn genetic diseases [RCV002827361] | Chr1:46933979 [GRCh38] Chr1:47399651 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.1067G>A (p.Gly356Asp) | single nucleotide variant | Inborn genetic diseases [RCV002891872] | Chr1:46934197 [GRCh38] Chr1:47399869 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.935G>A (p.Arg312His) | single nucleotide variant | Inborn genetic diseases [RCV002891392] | Chr1:46934329 [GRCh38] Chr1:47400001 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.1085C>T (p.Thr362Ile) | single nucleotide variant | Inborn genetic diseases [RCV002718199] | Chr1:46934179 [GRCh38] Chr1:47399851 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.1081A>C (p.Ile361Leu) | single nucleotide variant | Inborn genetic diseases [RCV002960245] | Chr1:46934183 [GRCh38] Chr1:47399855 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.1513C>G (p.Arg505Gly) | single nucleotide variant | Inborn genetic diseases [RCV002657011] | Chr1:46930162 [GRCh38] Chr1:47395834 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.268C>A (p.Leu90Ile) | single nucleotide variant | Inborn genetic diseases [RCV003339395] | Chr1:46938065 [GRCh38] Chr1:47403737 [GRCh37] Chr1:1p33 |
uncertain significance |
NM_000778.4(CYP4A11):c.120C>T (p.His40=) | single nucleotide variant | not provided [RCV003406479] | Chr1:46941314 [GRCh38] Chr1:47406986 [GRCh37] Chr1:1p33 |
likely benign |
Single allele | inversion | Bilateral polymicrogyria [RCV003459046] | Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3 |
likely pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
SHGC-74786 |
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SHGC-74787 |
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RH122360 |
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GDB:226298 |
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SHGC-145153 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | |
High | 1 | 1 | 1 | 1 | |||||||||||
Medium | 1 | 412 | 412 | 2 | 412 | 177 | 5 | 1 | |||||||
Low | 193 | 130 | 75 | 22 | 109 | 22 | 928 | 11 | 631 | 77 | 93 | 95 | 1 | 540 | 442 |
Below cutoff | 1884 | 2383 | 1081 | 162 | 671 | 5 | 3140 | 2018 | 2880 | 62 | 1108 | 1183 | 157 | 655 | 2297 |
RefSeq Transcripts | NG_007932 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_000778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001319155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001363587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134991 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005270539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017000465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054334705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001737005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF525488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK298267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK298413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL731892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY369778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC022851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC041158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD013974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD013975 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD013976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD013977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD013978 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD013979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD013980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD014132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D13705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D26481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L04751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S67580 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S67581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X71480 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000310638 ⟹ ENSP00000311095 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000371904 ⟹ ENSP00000360971 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000371905 ⟹ ENSP00000360972 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000462347 ⟹ ENSP00000477495 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000465874 ⟹ ENSP00000476368 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000468629 ⟹ ENSP00000476619 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000474458 ⟹ ENSP00000476988 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000475477 ⟹ ENSP00000476854 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000496519 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_000778 ⟹ NP_000769 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001319155 ⟹ NP_001306084 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001363587 ⟹ NP_001350516 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134988 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134989 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134990 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134991 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134992 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134993 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134994 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005270539 ⟹ XP_005270596 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017000465 ⟹ XP_016855954 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054334705 ⟹ XP_054190680 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_000769 | (Get FASTA) | NCBI Sequence Viewer |
NP_001306084 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001350516 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005270596 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016855954 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054190680 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA58436 | (Get FASTA) | NCBI Sequence Viewer |
AAB29502 | (Get FASTA) | NCBI Sequence Viewer | |
AAB29503 | (Get FASTA) | NCBI Sequence Viewer | |
AAH41158 | (Get FASTA) | NCBI Sequence Viewer | |
AAO16078 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ56847 | (Get FASTA) | NCBI Sequence Viewer | |
BAA02864 | (Get FASTA) | NCBI Sequence Viewer | |
BAA05491 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60530 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60640 | (Get FASTA) | NCBI Sequence Viewer | |
CAA50586 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000311095 | ||
ENSP00000311095.4 | |||
ENSP00000360972.1 | |||
ENSP00000476368.1 | |||
ENSP00000476619.1 | |||
ENSP00000476854.1 | |||
ENSP00000476988.1 | |||
ENSP00000477495 | |||
ENSP00000477495.1 | |||
GenBank Protein | Q02928 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_000769 ⟸ NM_000778 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q86SU6 (UniProtKB/Swiss-Prot), Q5VSP8 (UniProtKB/Swiss-Prot), Q16866 (UniProtKB/Swiss-Prot), Q16865 (UniProtKB/Swiss-Prot), Q06766 (UniProtKB/Swiss-Prot), Q8IWY5 (UniProtKB/Swiss-Prot), Q02928 (UniProtKB/Swiss-Prot), Q16802 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005270596 ⟸ XM_005270539 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A5PL05 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001306084 ⟸ NM_001319155 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q16802 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016855954 ⟸ XM_017000465 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DPB8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001350516 ⟸ NM_001363587 |
- Peptide Label: | isoform 3 |
- UniProtKB: | V9GZ77 (UniProtKB/TrEMBL), A5PL05 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSP00000360971 ⟸ ENST00000371904 |
RefSeq Acc Id: | ENSP00000360972 ⟸ ENST00000371905 |
RefSeq Acc Id: | ENSP00000476368 ⟸ ENST00000465874 |
RefSeq Acc Id: | ENSP00000476619 ⟸ ENST00000468629 |
RefSeq Acc Id: | ENSP00000311095 ⟸ ENST00000310638 |
RefSeq Acc Id: | ENSP00000476988 ⟸ ENST00000474458 |
RefSeq Acc Id: | ENSP00000476854 ⟸ ENST00000475477 |
RefSeq Acc Id: | ENSP00000477495 ⟸ ENST00000462347 |
RefSeq Acc Id: | XP_054190680 ⟸ XM_054334705 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q02928-F1-model_v2 | AlphaFold | Q02928 | 1-519 | view protein structure |
RGD ID: | 6855452 | ||||||||
Promoter ID: | EPDNEW_H891 | ||||||||
Type: | initiation region | ||||||||
Name: | CYP4A11_1 | ||||||||
Description: | cytochrome P450 family 4 subfamily A member 11 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:2642 | AgrOrtholog |
COSMIC | CYP4A11 | COSMIC |
Ensembl Genes | ENSG00000187048 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000310638 | ENTREZGENE |
ENST00000310638.9 | UniProtKB/Swiss-Prot | |
ENST00000371905.1 | UniProtKB/TrEMBL | |
ENST00000462347 | ENTREZGENE | |
ENST00000462347.5 | UniProtKB/TrEMBL | |
ENST00000465874.5 | UniProtKB/TrEMBL | |
ENST00000468629.5 | UniProtKB/TrEMBL | |
ENST00000474458.5 | UniProtKB/TrEMBL | |
ENST00000475477 | ENTREZGENE | |
ENST00000475477.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.630.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000187048 | GTEx |
HGNC ID | HGNC:2642 | ENTREZGENE |
Human Proteome Map | CYP4A11 | Human Proteome Map |
InterPro | Cyt_P450 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cyt_P450_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cyt_P450_E_grp-I | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cyt_P450_E_grp-II | UniProtKB/TrEMBL | |
Cyt_P450_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:1579 | UniProtKB/Swiss-Prot |
NCBI Gene | 1579 | ENTREZGENE |
OMIM | 601310 | OMIM |
PANTHER | CYTOCHROME P450 4A11-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CYTOCHROME P450 FAMILY 4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | p450 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA27118 | PharmGKB |
PRINTS | EP450I | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EP450II | UniProtKB/TrEMBL | |
P450 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | CYTOCHROME_P450 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48264 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0C4DFV7_HUMAN | UniProtKB/TrEMBL |
A5PL05 | ENTREZGENE | |
B4DPB8 | ENTREZGENE, UniProtKB/TrEMBL | |
CP4AB_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q06766 | ENTREZGENE | |
Q16802 | ENTREZGENE, UniProtKB/TrEMBL | |
Q16865 | ENTREZGENE | |
Q16866 | ENTREZGENE | |
Q5VSP8 | ENTREZGENE | |
Q86SU6 | ENTREZGENE | |
Q8IWY5 | ENTREZGENE | |
V9GY41_HUMAN | UniProtKB/TrEMBL | |
V9GYC6_HUMAN | UniProtKB/TrEMBL | |
V9GYK4_HUMAN | UniProtKB/TrEMBL | |
V9GYQ2_HUMAN | UniProtKB/TrEMBL | |
V9GZ77 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | Q06766 | UniProtKB/Swiss-Prot |
Q16865 | UniProtKB/Swiss-Prot | |
Q16866 | UniProtKB/Swiss-Prot | |
Q5VSP8 | UniProtKB/Swiss-Prot | |
Q86SU6 | UniProtKB/Swiss-Prot | |
Q8IWY5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-15 | CYP4A11 | cytochrome P450 family 4 subfamily A member 11 | CYP4A11 | cytochrome P450, family 4, subfamily A, polypeptide 11 | Symbol and/or name change | 5135510 | APPROVED |