PANX1 (pannexin 1) - Rat Genome Database

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Gene: PANX1 (pannexin 1) Homo sapiens
Analyze
Symbol: PANX1
Name: pannexin 1
RGD ID: 1347653
HGNC Page HGNC:8599
Description: Enables several functions, including ATP transmembrane transporter activity; channel activity; and identical protein binding activity. Involved in ATP transport; calcium ion transport; and positive regulation of interleukin-1 beta production. Located in several cellular components, including bleb; endoplasmic reticulum; and gap junction. Implicated in depressive disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: innexin; MGC21309; MRS1; OOMD7; OZEMA7; pannexin-1; PX1; UNQ2529
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381194,128,841 - 94,181,968 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1194,128,841 - 94,181,968 (+)EnsemblGRCh38hg38GRCh38
GRCh371193,862,007 - 93,915,134 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361193,501,742 - 93,554,786 (+)NCBINCBI36Build 36hg18NCBI36
Build 341193,501,741 - 93,554,783NCBI
Celera1191,149,894 - 91,202,958 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1189,937,250 - 89,990,295 (+)NCBIHuRef
CHM1_11193,745,100 - 93,798,158 (+)NCBICHM1_1
T2T-CHM13v2.01194,045,617 - 94,098,852 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3'-O-(4-Benzoyl)benzoyl ATP  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid  (ISO)
4-Acetamido-4'-isothiocyanostilbene-2,2'-disulphonic acid  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-Nitro-2-(3-phenylpropylamino)benzoic acid  (ISO)
aflatoxin B1  (EXP)
ATP  (EXP,ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
CARBENOXOLONE  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flufenamic acid  (ISO)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
glutathione  (ISO)
GTP  (ISO)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
menadione  (ISO)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
Niflumic acid  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
probenecid  (EXP,ISO)
resveratrol  (EXP)
serpentine asbestos  (EXP)
sodium arsenite  (EXP,ISO)
tacrolimus hydrate  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
UTP  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Knockout of P2rx7 purinergic receptor attenuates cyst growth in a rat model of ARPKD. Arkhipov SN, etal., Am J Physiol Renal Physiol. 2019 Oct 21. doi: 10.1152/ajprenal.00395.2019.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing. Liu Y, etal., Hum Mol Genet. 2022 Nov 10;31(22):3769-3776. doi: 10.1093/hmg/ddac129.
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:14597722   PMID:15028292   PMID:15304325   PMID:15489334   PMID:16293724   PMID:16303743   PMID:16682648   PMID:16690868   PMID:16908669   PMID:17036048  
PMID:17240370   PMID:17715132   PMID:17925379   PMID:18029348   PMID:18596211   PMID:19056988   PMID:19150332   PMID:19213873   PMID:19946888   PMID:20086016   PMID:20516070   PMID:20622111  
PMID:20628624   PMID:20660288   PMID:20884646   PMID:20944749   PMID:21606493   PMID:21659516   PMID:21791690   PMID:21859844   PMID:21865551   PMID:21873635   PMID:22311122   PMID:22311983  
PMID:22753409   PMID:22947051   PMID:22972801   PMID:23033481   PMID:23456773   PMID:23549611   PMID:23594276   PMID:23700432   PMID:23798685   PMID:23918924   PMID:23936165   PMID:24146091  
PMID:24418937   PMID:24531690   PMID:24646995   PMID:24655807   PMID:24671093   PMID:25008946   PMID:25112874   PMID:25170954   PMID:25239622   PMID:25301060   PMID:25947940   PMID:26009197  
PMID:26009198   PMID:26054298   PMID:26098574   PMID:26186194   PMID:26223428   PMID:26242575   PMID:26385361   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26755773   PMID:26823467  
PMID:27025600   PMID:27109381   PMID:27129271   PMID:27518505   PMID:27720686   PMID:27741412   PMID:27883084   PMID:28036289   PMID:28134257   PMID:28142297   PMID:28298427   PMID:28389204  
PMID:28514442   PMID:28692057   PMID:28735901   PMID:28855161   PMID:29222846   PMID:29357945   PMID:29393654   PMID:29507755   PMID:29676177   PMID:29802622   PMID:29848662   PMID:29882918  
PMID:29932112   PMID:30061676   PMID:30377218   PMID:30442766   PMID:30639242   PMID:30814251   PMID:30918116   PMID:31056421   PMID:31110238   PMID:31211503   PMID:31242494   PMID:31278290  
PMID:31410978   PMID:31678930   PMID:31694915   PMID:31698505   PMID:31871319   PMID:32023876   PMID:32203128   PMID:32231289   PMID:32246089   PMID:32284561   PMID:32296183   PMID:32312847  
PMID:32494015   PMID:32639715   PMID:32688074   PMID:32931038   PMID:33050989   PMID:33052098   PMID:33243234   PMID:33345473   PMID:33394272   PMID:33405952   PMID:33410749   PMID:33495594  
PMID:33499026   PMID:33564071   PMID:33647315   PMID:33961781   PMID:34067798   PMID:34079125   PMID:34181173   PMID:34301959   PMID:34380770   PMID:34709727   PMID:34796785   PMID:35133866  
PMID:35291811   PMID:35315432   PMID:35325354   PMID:35373707   PMID:35486697   PMID:35563450   PMID:35748872   PMID:35834089   PMID:36012667   PMID:36037373   PMID:36215168   PMID:36252698  
PMID:36291086   PMID:36469255   PMID:36538593   PMID:36610467   PMID:36976175   PMID:37073958   PMID:37130457   PMID:37511370   PMID:37589139   PMID:37622532   PMID:38073055   PMID:38100403  
PMID:38117590   PMID:38780416   PMID:38861601   PMID:38880128   PMID:38897345   PMID:38937853   PMID:39232764  


Genomics

Comparative Map Data
PANX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381194,128,841 - 94,181,968 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1194,128,841 - 94,181,968 (+)EnsemblGRCh38hg38GRCh38
GRCh371193,862,007 - 93,915,134 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361193,501,742 - 93,554,786 (+)NCBINCBI36Build 36hg18NCBI36
Build 341193,501,741 - 93,554,783NCBI
Celera1191,149,894 - 91,202,958 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1189,937,250 - 89,990,295 (+)NCBIHuRef
CHM1_11193,745,100 - 93,798,158 (+)NCBICHM1_1
T2T-CHM13v2.01194,045,617 - 94,098,852 (+)NCBIT2T-CHM13v2.0
Panx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39914,917,081 - 14,956,774 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl914,913,424 - 14,956,774 (-)EnsemblGRCm39 Ensembl
GRCm38915,005,785 - 15,045,478 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl915,002,128 - 15,045,478 (-)EnsemblGRCm38mm10GRCm38
MGSCv37914,810,229 - 14,849,922 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36914,756,178 - 14,795,871 (-)NCBIMGSCv36mm8
Celera912,286,408 - 12,326,356 (-)NCBICelera
Cytogenetic Map9A2NCBI
cM Map94.52NCBI
Panx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8820,128,783 - 20,171,200 (-)NCBIGRCr8
mRatBN7.2811,851,176 - 11,889,774 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl811,850,730 - 11,889,774 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx815,835,505 - 15,873,902 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0814,133,250 - 14,171,653 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0812,114,170 - 12,153,042 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0813,567,185 - 13,606,040 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl813,566,739 - 13,606,040 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0813,508,401 - 13,547,151 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4811,809,752 - 11,849,392 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1811,809,751 - 11,849,392 (-)NCBI
Celera813,320,676 - 13,358,794 (-)NCBICelera
Cytogenetic Map8q12NCBI
Panx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955414401,188 - 448,470 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955414405,483 - 448,470 (-)NCBIChiLan1.0ChiLan1.0
PANX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2994,981,323 - 95,136,371 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11196,074,806 - 96,126,726 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01189,142,686 - 89,295,972 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11192,628,760 - 92,685,118 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1192,628,760 - 92,685,109 (+)Ensemblpanpan1.1panPan2
PANX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1216,665,730 - 6,715,272 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl216,668,269 - 6,715,858 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha216,675,643 - 6,724,808 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0216,846,046 - 6,895,302 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl216,846,046 - 6,895,402 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1216,626,593 - 6,676,016 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0216,695,903 - 6,745,264 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0216,746,177 - 6,795,582 (-)NCBIUU_Cfam_GSD_1.0
Panx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494779,118,039 - 79,154,514 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936674736,905 - 773,412 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936674736,911 - 773,406 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PANX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl926,443,815 - 26,491,002 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1926,443,425 - 26,491,010 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2930,047,789 - 30,182,476 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PANX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1185,356,507 - 85,413,146 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl185,356,610 - 85,409,275 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604340,394,937 - 40,454,501 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Panx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473538,766,981 - 38,819,092 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473538,766,973 - 38,823,284 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PANX1
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3
pathogenic
NM_015368.4(PANX1):c.650G>A (p.Arg217His) single nucleotide variant not provided [RCV000234929] Chr11:94179706 [GRCh38]
Chr11:93912872 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
NM_015368.4(PANX1):c.1040G>C (p.Cys347Ser) single nucleotide variant Oocyte maturation defect 7 [RCV000850136] Chr11:94180096 [GRCh38]
Chr11:93913262 [GRCh37]
Chr11:11q21
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 copy number gain not provided [RCV000750120] Chr11:83179196..94716998 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_015368.4(PANX1):c.15A>C (p.Gln5His) single nucleotide variant Oocyte maturation defect 7 [RCV001788714]|not provided [RCV001665358] Chr11:94129327 [GRCh38]
Chr11:93862493 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.-21C>G single nucleotide variant not provided [RCV001645053] Chr11:94129292 [GRCh38]
Chr11:93862458 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.321+42G>C single nucleotide variant not provided [RCV001648841] Chr11:94153672 [GRCh38]
Chr11:93886838 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.99T>C (p.Ala33=) single nucleotide variant not provided [RCV000899156] Chr11:94129411 [GRCh38]
Chr11:93862577 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.*94A>G single nucleotide variant not provided [RCV001643438] Chr11:94180963 [GRCh38]
Chr11:93914129 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.868G>A (p.Val290Met) single nucleotide variant PANX1-related disorder [RCV003912997]|not provided [RCV000910239] Chr11:94179924 [GRCh38]
Chr11:93913090 [GRCh37]
Chr11:11q21
benign|likely benign
NM_015368.4(PANX1):c.1201+9T>G single nucleotide variant not provided [RCV000916590] Chr11:94180266 [GRCh38]
Chr11:93913432 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.465G>C (p.Lys155Asn) single nucleotide variant not provided [RCV000965219] Chr11:94178512 [GRCh38]
Chr11:93911678 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.81G>T (p.Gly27=) single nucleotide variant not provided [RCV000963285] Chr11:94129393 [GRCh38]
Chr11:93862559 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.62_70del (p.Thr21_Pro23del) deletion Oocyte maturation defect 7 [RCV000850138] Chr11:94129366..94129374 [GRCh38]
Chr11:93862532..93862540 [GRCh37]
Chr11:11q21
pathogenic
NM_015368.4(PANX1):c.1174C>T (p.Gln392Ter) single nucleotide variant Oocyte maturation defect 7 [RCV000850135] Chr11:94180230 [GRCh38]
Chr11:93913396 [GRCh37]
Chr11:11q21
pathogenic
NM_015368.4(PANX1):c.1036A>G (p.Lys346Glu) single nucleotide variant Oocyte maturation defect 7 [RCV000850137] Chr11:94180092 [GRCh38]
Chr11:93913258 [GRCh37]
Chr11:11q21
pathogenic
NM_015368.4(PANX1):c.1170G>T (p.Glu390Asp) single nucleotide variant not provided [RCV001713409] Chr11:94180226 [GRCh38]
Chr11:93913392 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.1202-265C>T single nucleotide variant not provided [RCV001651568] Chr11:94180525 [GRCh38]
Chr11:93913691 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.546-148C>T single nucleotide variant not provided [RCV001689003] Chr11:94179454 [GRCh38]
Chr11:93912620 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.-223CCGCC[3] microsatellite not provided [RCV001681661] Chr11:94129089..94129093 [GRCh38]
Chr11:93862255..93862259 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.1202-264T>C single nucleotide variant not provided [RCV001656262] Chr11:94180526 [GRCh38]
Chr11:93913692 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.-459C>T single nucleotide variant not provided [RCV001616136] Chr11:94128854 [GRCh38]
Chr11:93862020 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.546-130A>G single nucleotide variant not provided [RCV001674895] Chr11:94179472 [GRCh38]
Chr11:93912638 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.1133T>C (p.Val378Ala) single nucleotide variant PANX1-related disorder [RCV003958143]|not provided [RCV000901256] Chr11:94180189 [GRCh38]
Chr11:93913355 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.1187C>T (p.Thr396Met) single nucleotide variant PANX1-related disorder [RCV003960680]|not provided [RCV000956992] Chr11:94180243 [GRCh38]
Chr11:93913409 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.814A>G (p.Ile272Val) single nucleotide variant PANX1-related disorder [RCV003968427]|not provided [RCV001660834] Chr11:94179870 [GRCh38]
Chr11:93913036 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.1201+69T>C single nucleotide variant not provided [RCV001620788] Chr11:94180326 [GRCh38]
Chr11:93913492 [GRCh37]
Chr11:11q21
benign
GRCh37/hg19 11q21(chr11:93297444-94041273)x3 copy number gain not provided [RCV001006434] Chr11:93297444..94041273 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.1201+35T>C single nucleotide variant not provided [RCV001651800] Chr11:94180292 [GRCh38]
Chr11:93913458 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.545+98C>T single nucleotide variant not provided [RCV001616948] Chr11:94178690 [GRCh38]
Chr11:94178690..94178691 [GRCh38]
Chr11:93911856 [GRCh37]
Chr11:93911856..93911857 [GRCh37]
Chr11:11q21
benign
NC_000011.10:g.94128631A>G single nucleotide variant not provided [RCV001652065] Chr11:94128631 [GRCh38]
Chr11:93861797 [GRCh37]
Chr11:11q21
benign
GRCh37/hg19 11q21(chr11:93676223-94342737)x3 copy number gain not provided [RCV001260146] Chr11:93676223..94342737 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) copy number loss not specified [RCV002052940] Chr11:77855209..98002445 [GRCh37]
Chr11:11q14.1-22.1
pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) copy number loss not specified [RCV002052941] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
GRCh37/hg19 11q14.3-21(chr11:90906452-94437087) copy number gain not specified [RCV002052947] Chr11:90906452..94437087 [GRCh37]
Chr11:11q14.3-21
uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
NM_015368.4(PANX1):c.22A>G (p.Thr8Ala) single nucleotide variant not specified [RCV004324035] Chr11:94129334 [GRCh38]
Chr11:93862500 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.262G>T (p.Val88Phe) single nucleotide variant not specified [RCV004237465] Chr11:94153571 [GRCh38]
Chr11:93886737 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3
pathogenic
NM_015368.4(PANX1):c.847G>T (p.Val283Phe) single nucleotide variant not specified [RCV004222554] Chr11:94179903 [GRCh38]
Chr11:93913069 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.962A>G (p.Lys321Arg) single nucleotide variant not specified [RCV004090121] Chr11:94180018 [GRCh38]
Chr11:93913184 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.1156G>A (p.Ala386Thr) single nucleotide variant not specified [RCV004236205] Chr11:94180212 [GRCh38]
Chr11:93913378 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.727G>A (p.Glu243Lys) single nucleotide variant not specified [RCV004129401] Chr11:94179783 [GRCh38]
Chr11:93912949 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.374T>C (p.Leu125Pro) single nucleotide variant not specified [RCV004199352] Chr11:94178421 [GRCh38]
Chr11:93911587 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.1084G>A (p.Asp362Asn) single nucleotide variant not specified [RCV004106476] Chr11:94180140 [GRCh38]
Chr11:93913306 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.536T>C (p.Leu179Ser) single nucleotide variant not specified [RCV004170476] Chr11:94178583 [GRCh38]
Chr11:93911749 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.479C>T (p.Ala160Val) single nucleotide variant not specified [RCV004191771] Chr11:94178526 [GRCh38]
Chr11:93911692 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.383G>A (p.Arg128His) single nucleotide variant not specified [RCV004216491] Chr11:94178430 [GRCh38]
Chr11:93911596 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.1007A>G (p.Glu336Gly) single nucleotide variant not specified [RCV004166672] Chr11:94180063 [GRCh38]
Chr11:93913229 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.766G>A (p.Asp256Asn) single nucleotide variant not specified [RCV004113428] Chr11:94179822 [GRCh38]
Chr11:93912988 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.1281A>T (p.Ter427Cys) single nucleotide variant Oocyte maturation defect 7 [RCV004797474] Chr11:94180869 [GRCh38]
Chr11:93914035 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.652C>A (p.Leu218Met) single nucleotide variant not specified [RCV004274696] Chr11:94179708 [GRCh38]
Chr11:93912874 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.749C>T (p.Ser250Leu) single nucleotide variant Oocyte maturation defect 7 [RCV003333819] Chr11:94179805 [GRCh38]
Chr11:93912971 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.191T>C (p.Ile64Thr) single nucleotide variant not specified [RCV004341837] Chr11:94153500 [GRCh38]
Chr11:93886666 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.388G>A (p.Ala130Thr) single nucleotide variant not specified [RCV004340573] Chr11:94178435 [GRCh38]
Chr11:93911601 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.382C>T (p.Arg128Cys) single nucleotide variant not specified [RCV004362197] Chr11:94178429 [GRCh38]
Chr11:93911595 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.765C>T (p.Asn255=) single nucleotide variant PANX1-related disorder [RCV003949380] Chr11:94179821 [GRCh38]
Chr11:93912987 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.261T>C (p.Ala87=) single nucleotide variant PANX1-related disorder [RCV003937175] Chr11:94153570 [GRCh38]
Chr11:93886736 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.519A>G (p.Pro173=) single nucleotide variant PANX1-related disorder [RCV003923942] Chr11:94178566 [GRCh38]
Chr11:93911732 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.882G>A (p.Thr294=) single nucleotide variant PANX1-related disorder [RCV003974495] Chr11:94179938 [GRCh38]
Chr11:93913104 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.1083C>T (p.Ile361=) single nucleotide variant PANX1-related disorder [RCV003981813] Chr11:94180139 [GRCh38]
Chr11:93913305 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.911A>C (p.Asp304Ala) single nucleotide variant not specified [RCV004500271] Chr11:94179967 [GRCh38]
Chr11:93913133 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.190A>G (p.Ile64Val) single nucleotide variant not specified [RCV004500263] Chr11:94153499 [GRCh38]
Chr11:93886665 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.455G>A (p.Arg152His) single nucleotide variant not specified [RCV004500265] Chr11:94178502 [GRCh38]
Chr11:93911668 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.472A>G (p.Lys158Glu) single nucleotide variant not specified [RCV004500266] Chr11:94178519 [GRCh38]
Chr11:93911685 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.49C>G (p.Leu17Val) single nucleotide variant not specified [RCV004500267] Chr11:94129361 [GRCh38]
Chr11:93862527 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.583A>G (p.Ile195Val) single nucleotide variant not specified [RCV004500268] Chr11:94179639 [GRCh38]
Chr11:93912805 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.300C>A (p.Asn100Lys) single nucleotide variant not specified [RCV004500264] Chr11:94153609 [GRCh38]
Chr11:93886775 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.68C>G (p.Pro23Arg) single nucleotide variant not specified [RCV004500269] Chr11:94129380 [GRCh38]
Chr11:93862546 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.1253G>A (p.Arg418Gln) single nucleotide variant not specified [RCV004500262] Chr11:94180841 [GRCh38]
Chr11:93914007 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.689A>G (p.Tyr230Cys) single nucleotide variant not specified [RCV004664133] Chr11:94179745 [GRCh38]
Chr11:93912911 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.1150A>T (p.Met384Leu) single nucleotide variant not specified [RCV004650842] Chr11:94180206 [GRCh38]
Chr11:93913372 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.346T>G (p.Phe116Val) single nucleotide variant not specified [RCV004650843] Chr11:94178393 [GRCh38]
Chr11:93911559 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.667A>G (p.Ile223Val) single nucleotide variant not specified [RCV004650844] Chr11:94179723 [GRCh38]
Chr11:93912889 [GRCh37]
Chr11:11q21
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1195
Count of miRNA genes:496
Interacting mature miRNAs:533
Transcripts:ENST00000227638, ENST00000436171
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.

Markers in Region
SHGC-149437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371193,908,462 - 93,908,756UniSTSGRCh37
Build 361193,548,110 - 93,548,404RGDNCBI36
Celera1191,196,282 - 91,196,576RGD
Cytogenetic Map11q21UniSTS
HuRef1189,983,619 - 89,983,913UniSTS
TNG Radiation Hybrid Map1143369.0UniSTS
WIAF-1483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371193,914,923 - 93,915,073UniSTSGRCh37
Build 361193,554,571 - 93,554,721RGDNCBI36
Celera1191,202,743 - 91,202,893RGD
Cytogenetic Map11q21UniSTS
HuRef1189,990,080 - 89,990,230UniSTS
GeneMap99-GB4 RH Map11315.21UniSTS
NCBI RH Map11791.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1950 465 2269 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF398509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY048509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA418094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM201789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000227638   ⟹   ENSP00000227638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1194,128,841 - 94,181,968 (+)Ensembl
Ensembl Acc Id: ENST00000436171   ⟹   ENSP00000411461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1194,128,929 - 94,181,966 (+)Ensembl
RefSeq Acc Id: NM_015368   ⟹   NP_056183
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,128,841 - 94,181,968 (+)NCBI
GRCh371193,862,094 - 93,918,762 (+)NCBI
Build 361193,501,742 - 93,554,786 (+)NCBI Archive
HuRef1189,937,250 - 89,990,295 (+)ENTREZGENE
CHM1_11193,745,100 - 93,798,158 (+)NCBI
T2T-CHM13v2.01194,045,617 - 94,098,852 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542734   ⟹   XP_011541036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,153,563 - 94,181,968 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426702   ⟹   XP_047282658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,153,549 - 94,181,968 (+)NCBI
RefSeq Acc Id: XM_054368280   ⟹   XP_054224255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01194,070,447 - 94,098,852 (+)NCBI
RefSeq Acc Id: XM_054368281   ⟹   XP_054224256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01194,070,433 - 94,098,852 (+)NCBI
RefSeq Acc Id: NP_056183   ⟸   NM_015368
- UniProtKB: Q96L77 (UniProtKB/Swiss-Prot),   Q96AM9 (UniProtKB/Swiss-Prot),   Q6UW26 (UniProtKB/Swiss-Prot),   Q543A0 (UniProtKB/Swiss-Prot),   O75968 (UniProtKB/Swiss-Prot),   Q96RS5 (UniProtKB/Swiss-Prot),   Q96RD7 (UniProtKB/Swiss-Prot),   B6ETL5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541036   ⟸   XM_011542734
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000227638   ⟸   ENST00000227638
Ensembl Acc Id: ENSP00000411461   ⟸   ENST00000436171
RefSeq Acc Id: XP_047282658   ⟸   XM_047426702
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224256   ⟸   XM_054368281
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224255   ⟸   XM_054368280
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96RD7-F1-model_v2 AlphaFold Q96RD7 1-426 view protein structure

Promoters
RGD ID:6789201
Promoter ID:HG_KWN:13970
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015368,   UC001PEQ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361193,501,459 - 93,501,959 (+)MPROMDB
RGD ID:7221831
Promoter ID:EPDNEW_H16661
Type:initiation region
Name:PANX1_1
Description:pannexin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16662  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,128,874 - 94,128,934EPDNEW
RGD ID:7221833
Promoter ID:EPDNEW_H16662
Type:initiation region
Name:PANX1_2
Description:pannexin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16661  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,129,145 - 94,129,205EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8599 AgrOrtholog
COSMIC PANX1 COSMIC
Ensembl Genes ENSG00000110218 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000227638 ENTREZGENE
  ENST00000227638.8 UniProtKB/Swiss-Prot
  ENST00000436171.2 UniProtKB/Swiss-Prot
GTEx ENSG00000110218 GTEx
HGNC ID HGNC:8599 ENTREZGENE
Human Proteome Map PANX1 Human Proteome Map
InterPro Innexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pannexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:24145 UniProtKB/Swiss-Prot
NCBI Gene 24145 ENTREZGENE
OMIM 608420 OMIM
PANTHER PANNEXIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15759 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Innexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32929 PharmGKB
PROSITE PANNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B6ETL5 ENTREZGENE, UniProtKB/TrEMBL
  O75968 ENTREZGENE
  PANX1_HUMAN UniProtKB/Swiss-Prot
  Q543A0 ENTREZGENE
  Q6UW26 ENTREZGENE
  Q96AM9 ENTREZGENE
  Q96L77 ENTREZGENE
  Q96RD7 ENTREZGENE
  Q96RS5 ENTREZGENE
UniProt Secondary O75968 UniProtKB/Swiss-Prot
  Q543A0 UniProtKB/Swiss-Prot
  Q6UW26 UniProtKB/Swiss-Prot
  Q96AM9 UniProtKB/Swiss-Prot
  Q96L77 UniProtKB/Swiss-Prot
  Q96RS5 UniProtKB/Swiss-Prot