PICALM (phosphatidylinositol binding clathrin assembly protein) - Rat Genome Database

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Gene: PICALM (phosphatidylinositol binding clathrin assembly protein) Homo sapiens
Analyze
Symbol: PICALM
Name: phosphatidylinositol binding clathrin assembly protein
RGD ID: 732553
HGNC Page HGNC
Description: Exhibits several functions, including clathrin heavy chain binding activity; low-density lipoprotein particle receptor binding activity; and small GTPase binding activity. Involved in several processes, including negative regulation of cellular protein localization; receptor-mediated endocytosis; and regulation of amyloid precursor protein catabolic process. Localizes to several cellular components, including clathrin-coated pit; cytoplasmic vesicle; and neurofibrillary tangle. Colocalizes with AP-2 adaptor complex. Implicated in acute myeloid leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CALM; clathrin assembly lymphoid myeloid leukemia protein; clathrin assembly lymphoid-myeloid leukemia; CLTH; LAP; phosphatidylinositol-binding clathrin assembly protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1185,957,175 - 86,069,882 (-)EnsemblGRCh38hg38GRCh38
GRCh381185,957,175 - 86,069,860 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371185,668,218 - 85,780,902 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361185,346,133 - 85,457,756 (-)NCBINCBI36hg18NCBI36
Build 341185,346,133 - 85,457,756NCBI
Celera1182,977,768 - 83,089,435 (-)NCBI
Cytogenetic Map11q14.2NCBI
HuRef1181,965,384 - 82,078,030 (-)NCBIHuRef
CHM1_11185,553,010 - 85,665,742 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid-beta clearance by transcytosis  (IGI,ISS)
axonogenesis  (IEA)
clathrin coat assembly  (IEA,IMP,ISO)
clathrin-coated pit assembly  (IDA)
clathrin-dependent endocytosis  (IBA,IMP)
dendrite morphogenesis  (IEA)
endocytosis  (IDA,IEA)
endosomal transport  (IMP)
hemopoiesis  (IEA)
iron ion homeostasis  (IMP)
learning or memory  (ISS)
membrane bending  (IMP)
membrane organization  (TAS)
modulation of age-related behavioral decline  (ISS)
negative regulation of gene expression  (IMP)
negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process  (ISS)
negative regulation of protein localization to cell surface  (IMP)
negative regulation of protein localization to plasma membrane  (IMP)
negative regulation of receptor-mediated endocytosis  (IDA)
positive regulation of amyloid-beta formation  (IMP)
positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process  (ISS)
positive regulation of axonogenesis  (ISO)
positive regulation of dendrite extension  (ISO)
positive regulation of GTPase activity  (IMP)
positive regulation of neuron death  (IMP)
positive regulation of synaptic vesicle clustering  (ISO)
positive regulation of synaptic vesicle endocytosis  (ISO)
positive regulation of transcription, DNA-templated  (IDA)
protein-containing complex assembly  (TAS)
receptor internalization  (IMP)
receptor-mediated endocytosis  (IDA)
regulation of amyloid-beta formation  (ISS)
regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process  (IMP)
regulation of endocytosis  (IMP)
regulation of protein localization  (IDA)
regulation of protein transport  (ISO)
regulation of synaptic vesicle endocytosis  (ISO)
regulation of synaptic vesicle transport  (ISO)
regulation of terminal button organization  (ISO)
regulation of vesicle size  (IMP)
synaptic vesicle budding from presynaptic endocytic zone membrane  (IBA)
synaptic vesicle endocytosis  (ISO)
synaptic vesicle maturation  (ISS)
vesicle budding from membrane  (IBA,IMP)
vesicle cargo loading  (IMP)
vesicle-mediated transport  (TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1547942   PMID:8643484   PMID:9737689   PMID:10436022   PMID:10926122   PMID:11425879   PMID:12477932   PMID:14702039   PMID:14985334   PMID:15146197   PMID:15182197   PMID:15489334  
PMID:16262731   PMID:16491119   PMID:17097559   PMID:17170719   PMID:17597474   PMID:17804713   PMID:18029348   PMID:18037964   PMID:18074379   PMID:18094714   PMID:18182011   PMID:19450545  
PMID:19734902   PMID:19738201   PMID:19946888   PMID:20460622   PMID:20467437   PMID:20534741   PMID:20554627   PMID:20558387   PMID:20570404   PMID:20674675   PMID:20697030   PMID:20738160  
PMID:20739100   PMID:20804422   PMID:20838239   PMID:20951388   PMID:20963938   PMID:21059989   PMID:21220176   PMID:21221849   PMID:21297266   PMID:21300948   PMID:21347408   PMID:21358043  
PMID:21460841   PMID:21627779   PMID:21706055   PMID:21873635   PMID:21912625   PMID:21965661   PMID:21988832   PMID:22015308   PMID:22064352   PMID:22118466   PMID:22402018   PMID:22539346  
PMID:22539578   PMID:22558309   PMID:22623428   PMID:22639918   PMID:22715855   PMID:22829078   PMID:22832961   PMID:22888099   PMID:22889924   PMID:22939629   PMID:22943764   PMID:22952074  
PMID:22952941   PMID:22975751   PMID:23040034   PMID:23382074   PMID:23487024   PMID:23572399   PMID:23589030   PMID:23601808   PMID:23650005   PMID:23670296   PMID:23741335   PMID:23870418  
PMID:24067654   PMID:24076290   PMID:24095218   PMID:24162737   PMID:24577224   PMID:24578178   PMID:24613704   PMID:24618820   PMID:24660791   PMID:25022885   PMID:25169757   PMID:25241929  
PMID:25324306   PMID:25359311   PMID:25468996   PMID:25648896   PMID:25737280   PMID:25898166   PMID:25921289   PMID:25963833   PMID:26005850   PMID:26186194   PMID:26209609   PMID:26344197  
PMID:26434199   PMID:26496610   PMID:26611835   PMID:26673895   PMID:26760575   PMID:26889634   PMID:26949251   PMID:26950368   PMID:27017968   PMID:27048444   PMID:27107012   PMID:27117083  
PMID:27237791   PMID:27260836   PMID:27430330   PMID:27466196   PMID:27574975   PMID:27773727   PMID:28073596   PMID:28116548   PMID:28316001   PMID:28514442   PMID:28549650   PMID:28558900  
PMID:28567584   PMID:28631188   PMID:28675297   PMID:28986522   PMID:29128334   PMID:29395067   PMID:29467281   PMID:29568061   PMID:29883038   PMID:30039188   PMID:30040717   PMID:30196744  
PMID:30472946   PMID:30575818   PMID:30773093   PMID:30833792   PMID:31091453   PMID:31300465   PMID:31385771   PMID:31478661   PMID:31586073   PMID:31648990   PMID:31732153   PMID:32296183  
PMID:32991610   PMID:33226740  


Genomics

Comparative Map Data
PICALM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1185,957,175 - 86,069,882 (-)EnsemblGRCh38hg38GRCh38
GRCh381185,957,175 - 86,069,860 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371185,668,218 - 85,780,902 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361185,346,133 - 85,457,756 (-)NCBINCBI36hg18NCBI36
Build 341185,346,133 - 85,457,756NCBI
Celera1182,977,768 - 83,089,435 (-)NCBI
Cytogenetic Map11q14.2NCBI
HuRef1181,965,384 - 82,078,030 (-)NCBIHuRef
CHM1_11185,553,010 - 85,665,742 (-)NCBICHM1_1
Picalm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39789,779,418 - 89,858,655 (+)NCBIGRCm39mm39
GRCm39 Ensembl789,779,421 - 89,862,673 (+)Ensembl
GRCm38790,130,192 - 90,209,447 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl790,130,213 - 90,213,465 (+)EnsemblGRCm38mm10GRCm38
MGSCv37797,278,742 - 97,357,442 (+)NCBIGRCm37mm9NCBIm37
MGSCv36790,005,424 - 90,084,124 (+)NCBImm8
Celera787,455,394 - 87,534,538 (+)NCBICelera
Cytogenetic Map7D3NCBI
cM Map750.47NCBI
Picalm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21144,056,415 - 144,138,045 (+)NCBI
Rnor_6.0 Ensembl1154,377,247 - 154,458,425 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01154,377,229 - 154,458,966 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01160,681,689 - 160,763,382 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41146,754,085 - 146,834,197 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11146,832,490 - 146,912,603 (+)NCBI
Celera1142,288,691 - 142,367,949 (+)NCBICelera
Cytogenetic Map1q32NCBI
Picalm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554146,871,520 - 6,969,208 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554146,871,220 - 6,970,569 (+)NCBIChiLan1.0ChiLan1.0
PICALM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11184,619,241 - 84,730,516 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1184,619,241 - 84,730,684 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01181,011,324 - 81,122,352 (-)NCBIMhudiblu_PPA_v0panPan3
PICALM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12113,437,819 - 13,540,167 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2113,437,925 - 13,539,616 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2113,303,451 - 13,405,757 (+)NCBI
ROS_Cfam_1.02113,619,410 - 13,719,561 (+)NCBI
UMICH_Zoey_3.12113,405,869 - 13,508,626 (+)NCBI
UNSW_CanFamBas_1.02113,478,428 - 13,581,047 (+)NCBI
UU_Cfam_GSD_1.02113,531,568 - 13,633,911 (+)NCBI
Picalm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494772,186,022 - 72,286,358 (-)NCBI
SpeTri2.0NW_00493649813,785,638 - 13,885,931 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PICALM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl919,835,938 - 20,104,632 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1919,835,934 - 19,947,239 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2922,107,100 - 22,184,702 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PICALM
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1177,214,391 - 77,325,626 (-)NCBI
ChlSab1.1 Ensembl177,213,836 - 77,324,875 (-)Ensembl
Vero_WHO_p1.0NW_02366604348,400,453 - 48,511,604 (+)NCBI
Picalm
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248453,875,601 - 3,990,347 (+)NCBI

Position Markers
SHGC-24065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,668,748 - 85,668,875UniSTSGRCh37
Build 361185,346,396 - 85,346,523RGDNCBI36
Celera1182,978,031 - 82,978,158RGD
Cytogenetic Map11q14UniSTS
HuRef1181,965,918 - 81,966,045UniSTS
Stanford-G3 RH Map113758.0UniSTS
GeneMap99-G3 RH Map113758.0UniSTS
RH68651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,671,562 - 85,671,713UniSTSGRCh37
Build 361185,349,210 - 85,349,361RGDNCBI36
Celera1182,980,847 - 82,980,998RGD
Cytogenetic Map11q14UniSTS
HuRef1181,968,729 - 81,968,880UniSTS
GeneMap99-GB4 RH Map11299.25UniSTS
NCBI RH Map11745.1UniSTS
RH91128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,668,721 - 85,668,906UniSTSGRCh37
Build 361185,346,369 - 85,346,554RGDNCBI36
Celera1182,978,004 - 82,978,189RGD
Cytogenetic Map11q14UniSTS
HuRef1181,965,891 - 81,966,076UniSTS
GeneMap99-GB4 RH Map11298.62UniSTS
RH121569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,778,251 - 85,778,596UniSTSGRCh37
Build 361185,455,899 - 85,456,244RGDNCBI36
Celera1183,087,576 - 83,087,921RGD
Cytogenetic Map11q14UniSTS
HuRef1182,075,356 - 82,075,701UniSTS
TNG Radiation Hybrid Map1139458.0UniSTS
D11S3967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,668,714 - 85,668,914UniSTSGRCh37
Build 361185,346,362 - 85,346,562RGDNCBI36
Celera1182,977,997 - 82,978,197RGD
Cytogenetic Map11q14UniSTS
HuRef1181,965,884 - 81,966,084UniSTS
Whitehead-YAC Contig Map11 UniSTS
SGC33091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,668,279 - 85,668,405UniSTSGRCh37
Build 361185,345,927 - 85,346,053RGDNCBI36
Celera1182,977,562 - 82,977,688RGD
Cytogenetic Map11q14UniSTS
HuRef1181,965,449 - 81,965,575UniSTS
GeneMap99-GB4 RH Map11299.07UniSTS
Whitehead-RH Map11397.7UniSTS
RH44979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,754,648 - 85,754,759UniSTSGRCh37
Build 361185,432,296 - 85,432,407RGDNCBI36
Celera1183,063,964 - 83,064,075RGD
Cytogenetic Map11q14UniSTS
HuRef1182,051,831 - 82,051,942UniSTS
GeneMap99-GB4 RH Map11301.88UniSTS
NCBI RH Map11756.4UniSTS
SHGC-35169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,755,320 - 85,755,470UniSTSGRCh37
Build 361185,432,968 - 85,433,118RGDNCBI36
Celera1183,064,636 - 83,064,786RGD
Cytogenetic Map11cen-q12.1UniSTS
Cytogenetic Map11q14UniSTS
HuRef1182,052,503 - 82,052,653UniSTS
Stanford-G3 RH Map113788.0UniSTS
GeneMap99-GB4 RH Map11301.36UniSTS
Whitehead-RH Map11399.2UniSTS
GeneMap99-G3 RH Map113788.0UniSTS
RH66557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,668,873 - 85,669,036UniSTSGRCh37
Build 361185,346,521 - 85,346,684RGDNCBI36
Celera1182,978,156 - 82,978,319RGD
Cytogenetic Map11q14UniSTS
HuRef1181,966,043 - 81,966,206UniSTS
GeneMap99-GB4 RH Map11299.07UniSTS
WI-11672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,718,335 - 85,718,484UniSTSGRCh37
Build 361185,395,983 - 85,396,132RGDNCBI36
Celera1183,027,622 - 83,027,771RGD
Cytogenetic Map11q14UniSTS
HuRef1182,015,505 - 82,015,654UniSTS
GeneMap99-GB4 RH Map11300.62UniSTS
Whitehead-RH Map11399.5UniSTS
NCBI RH Map11752.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoProteomics;MicroarrayNon-Functional MTI (Weak)18668037

Predicted Target Of
Summary Value
Count of predictions:3242
Count of miRNA genes:976
Interacting mature miRNAs:1199
Transcripts:ENST00000356360, ENST00000393346, ENST00000525162, ENST00000526033, ENST00000526548, ENST00000526907, ENST00000526961, ENST00000528256, ENST00000528398, ENST00000528411, ENST00000529016, ENST00000529760, ENST00000530542, ENST00000530692, ENST00000531558, ENST00000531771, ENST00000531930, ENST00000532041, ENST00000532317, ENST00000532603, ENST00000533350, ENST00000534375, ENST00000534412
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2433 2947 1722 622 1946 464 4355 2160 3710 417 1448 1607 171 1204 2788 4
Low 6 44 4 2 5 1 2 36 24 2 12 6 4 1 2 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001008660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB210017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF060939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF060940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF477007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY326466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA415536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN310579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC300074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF051633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U45976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356360   ⟹   ENSP00000348718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,958,987 - 86,068,780 (-)Ensembl
RefSeq Acc Id: ENST00000393346   ⟹   ENSP00000377015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,957,175 - 86,069,084 (-)Ensembl
RefSeq Acc Id: ENST00000525162   ⟹   ENSP00000436508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1186,012,343 - 86,069,539 (-)Ensembl
RefSeq Acc Id: ENST00000526033   ⟹   ENSP00000433846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,957,688 - 86,069,097 (-)Ensembl
RefSeq Acc Id: ENST00000526548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,958,811 - 85,977,005 (-)Ensembl
RefSeq Acc Id: ENST00000526907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,974,782 - 85,978,715 (-)Ensembl
RefSeq Acc Id: ENST00000526961   ⟹   ENSP00000432976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,959,037 - 85,996,929 (-)Ensembl
RefSeq Acc Id: ENST00000528256   ⟹   ENSP00000431545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1186,014,870 - 86,069,081 (-)Ensembl
RefSeq Acc Id: ENST00000528398   ⟹   ENSP00000434884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,958,839 - 86,069,882 (-)Ensembl
RefSeq Acc Id: ENST00000528411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1186,022,378 - 86,069,311 (-)Ensembl
RefSeq Acc Id: ENST00000529016   ⟹   ENSP00000432509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,959,023 - 86,001,141 (-)Ensembl
RefSeq Acc Id: ENST00000529760   ⟹   ENSP00000435807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,958,818 - 86,001,158 (-)Ensembl
RefSeq Acc Id: ENST00000530542   ⟹   ENSP00000435737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,976,649 - 86,001,158 (-)Ensembl
RefSeq Acc Id: ENST00000530692   ⟹   ENSP00000436852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,958,755 - 85,990,258 (-)Ensembl
RefSeq Acc Id: ENST00000531558   ⟹   ENSP00000433166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1186,011,112 - 86,068,984 (-)Ensembl
RefSeq Acc Id: ENST00000531771
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1186,007,369 - 86,022,469 (-)Ensembl
RefSeq Acc Id: ENST00000531930   ⟹   ENSP00000433303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1186,012,281 - 86,069,811 (-)Ensembl
RefSeq Acc Id: ENST00000532041   ⟹   ENSP00000431728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1186,012,329 - 86,068,945 (-)Ensembl
RefSeq Acc Id: ENST00000532317   ⟹   ENSP00000436958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,957,684 - 86,069,059 (-)Ensembl
RefSeq Acc Id: ENST00000532603   ⟹   ENSP00000435311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,958,883 - 85,983,900 (-)Ensembl
RefSeq Acc Id: ENST00000533350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1186,001,031 - 86,003,778 (-)Ensembl
RefSeq Acc Id: ENST00000534375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,981,184 - 85,982,185 (-)Ensembl
RefSeq Acc Id: ENST00000534412   ⟹   ENSP00000435499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1186,000,681 - 86,068,797 (-)Ensembl
RefSeq Acc Id: ENST00000630913   ⟹   ENSP00000487119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1185,958,817 - 86,068,929 (-)Ensembl
RefSeq Acc Id: NM_001008660   ⟹   NP_001008660
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)ENTREZGENE
GRCh371185,668,214 - 85,780,923 (-)NCBI
Build 361185,346,133 - 85,457,756 (-)NCBI Archive
HuRef1181,965,384 - 82,078,030 (-)ENTREZGENE
CHM1_11185,553,010 - 85,664,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001206946   ⟹   NP_001193875
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
HuRef1181,965,384 - 82,078,030 (-)ENTREZGENE
CHM1_11185,553,010 - 85,664,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001206947   ⟹   NP_001193876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,860 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
HuRef1181,965,384 - 82,078,030 (-)ENTREZGENE
CHM1_11185,553,010 - 85,665,742 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007166   ⟹   NP_009097
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,175 - 86,069,084 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)ENTREZGENE
GRCh371185,668,214 - 85,780,923 (-)NCBI
Build 361185,346,133 - 85,457,756 (-)NCBI Archive
HuRef1181,965,384 - 82,078,030 (-)ENTREZGENE
CHM1_11185,553,010 - 85,664,958 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274322   ⟹   XP_005274379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274323   ⟹   XP_005274380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,910 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274324   ⟹   XP_005274381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274325   ⟹   XP_005274382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274326   ⟹   XP_005274383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274327   ⟹   XP_005274384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274328   ⟹   XP_005274385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274329   ⟹   XP_005274386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274330   ⟹   XP_005274387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,958,059 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274331   ⟹   XP_005274388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274332   ⟹   XP_005274389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274333   ⟹   XP_005274390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274334   ⟹   XP_005274391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274335   ⟹   XP_005274392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274336   ⟹   XP_005274393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274337   ⟹   XP_005274394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
GRCh371185,668,214 - 85,780,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274340   ⟹   XP_005274397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006718699   ⟹   XP_006718762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006718700   ⟹   XP_006718763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006718701   ⟹   XP_006718764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,910 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545293   ⟹   XP_011543595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018381   ⟹   XP_016873870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018382   ⟹   XP_016873871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,581 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018383   ⟹   XP_016873872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018384   ⟹   XP_016873873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018385   ⟹   XP_016873874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,958,059 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018386   ⟹   XP_016873875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018387   ⟹   XP_016873876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018388   ⟹   XP_016873877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448700   ⟹   XP_024304468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,957,579 - 86,069,039 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001008660 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193875 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193876 (Get FASTA)   NCBI Sequence Viewer  
  NP_009097 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274379 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274380 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274381 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274382 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274383 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274384 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274385 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274386 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274387 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274388 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274389 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274390 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274391 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274392 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274393 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274394 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274397 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718762 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718763 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718764 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543595 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873870 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873871 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873872 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873873 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873874 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873875 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873876 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873877 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304468 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB07762 (Get FASTA)   NCBI Sequence Viewer  
  AAC16711 (Get FASTA)   NCBI Sequence Viewer  
  AAC16712 (Get FASTA)   NCBI Sequence Viewer  
  AAH48259 (Get FASTA)   NCBI Sequence Viewer  
  AAH64357 (Get FASTA)   NCBI Sequence Viewer  
  AAH73961 (Get FASTA)   NCBI Sequence Viewer  
  AAN03747 (Get FASTA)   NCBI Sequence Viewer  
  AAR99516 (Get FASTA)   NCBI Sequence Viewer  
  ABK54356 (Get FASTA)   NCBI Sequence Viewer  
  BAE06099 (Get FASTA)   NCBI Sequence Viewer  
  BAF84103 (Get FASTA)   NCBI Sequence Viewer  
  BAG59583 (Get FASTA)   NCBI Sequence Viewer  
  BAG62035 (Get FASTA)   NCBI Sequence Viewer  
  BAG70122 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43392 (Get FASTA)   NCBI Sequence Viewer  
  EAW75118 (Get FASTA)   NCBI Sequence Viewer  
  EAW75119 (Get FASTA)   NCBI Sequence Viewer  
  EAW75120 (Get FASTA)   NCBI Sequence Viewer  
  EAW75121 (Get FASTA)   NCBI Sequence Viewer  
  EAW75122 (Get FASTA)   NCBI Sequence Viewer  
  EAW75123 (Get FASTA)   NCBI Sequence Viewer  
  EAW75124 (Get FASTA)   NCBI Sequence Viewer  
  EAW75125 (Get FASTA)   NCBI Sequence Viewer  
  EAW75126 (Get FASTA)   NCBI Sequence Viewer  
  EAW75127 (Get FASTA)   NCBI Sequence Viewer  
  EAW75128 (Get FASTA)   NCBI Sequence Viewer  
  Q13492 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001193876   ⟸   NM_001206947
- Peptide Label: isoform 4
- UniProtKB: Q13492 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001008660   ⟸   NM_001008660
- Peptide Label: isoform 2
- UniProtKB: Q13492 (UniProtKB/Swiss-Prot),   A0A024R5L7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193875   ⟸   NM_001206946
- Peptide Label: isoform 3
- UniProtKB: Q13492 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_009097   ⟸   NM_007166
- Peptide Label: isoform 1
- UniProtKB: Q13492 (UniProtKB/Swiss-Prot),   A0A024R5P1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274392   ⟸   XM_005274335
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_005274393   ⟸   XM_005274336
- Peptide Label: isoform X21
- Sequence:
RefSeq Acc Id: XP_005274389   ⟸   XM_005274332
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_005274397   ⟸   XM_005274340
- Peptide Label: isoform X30
- Sequence:
RefSeq Acc Id: XP_005274390   ⟸   XM_005274333
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_005274387   ⟸   XM_005274330
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_005274391   ⟸   XM_005274334
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_005274386   ⟸   XM_005274329
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_005274382   ⟸   XM_005274325
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005274385   ⟸   XM_005274328
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_005274380   ⟸   XM_005274323
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005274394   ⟸   XM_005274337
- Peptide Label: isoform X25
- Sequence:
RefSeq Acc Id: XP_005274388   ⟸   XM_005274331
- Peptide Label: isoform X15
- UniProtKB: Q13492 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274384   ⟸   XM_005274327
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_005274381   ⟸   XM_005274324
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005274383   ⟸   XM_005274326
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_005274379   ⟸   XM_005274322
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006718763   ⟸   XM_006718700
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006718764   ⟸   XM_006718701
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_006718762   ⟸   XM_006718699
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543595   ⟸   XM_011545293
- Peptide Label: isoform X23
- Sequence:
RefSeq Acc Id: XP_016873877   ⟸   XM_017018388
- Peptide Label: isoform X29
- Sequence:
RefSeq Acc Id: XP_016873876   ⟸   XM_017018387
- Peptide Label: isoform X28
- Sequence:
RefSeq Acc Id: XP_016873875   ⟸   XM_017018386
- Peptide Label: isoform X27
- Sequence:
RefSeq Acc Id: XP_016873870   ⟸   XM_017018381
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016873873   ⟸   XM_017018384
- Peptide Label: isoform X24
- Sequence:
RefSeq Acc Id: XP_016873872   ⟸   XM_017018383
- Peptide Label: isoform X22
- Sequence:
RefSeq Acc Id: XP_016873871   ⟸   XM_017018382
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_016873874   ⟸   XM_017018385
- Peptide Label: isoform X26
- Sequence:
RefSeq Acc Id: XP_024304468   ⟸   XM_024448700
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: ENSP00000436852   ⟸   ENST00000530692
RefSeq Acc Id: ENSP00000435737   ⟸   ENST00000530542
RefSeq Acc Id: ENSP00000433303   ⟸   ENST00000531930
RefSeq Acc Id: ENSP00000433166   ⟸   ENST00000531558
RefSeq Acc Id: ENSP00000431728   ⟸   ENST00000532041
RefSeq Acc Id: ENSP00000436958   ⟸   ENST00000532317
RefSeq Acc Id: ENSP00000435311   ⟸   ENST00000532603
RefSeq Acc Id: ENSP00000435499   ⟸   ENST00000534412
RefSeq Acc Id: ENSP00000436508   ⟸   ENST00000525162
RefSeq Acc Id: ENSP00000377015   ⟸   ENST00000393346
RefSeq Acc Id: ENSP00000433846   ⟸   ENST00000526033
RefSeq Acc Id: ENSP00000432976   ⟸   ENST00000526961
RefSeq Acc Id: ENSP00000487119   ⟸   ENST00000630913
RefSeq Acc Id: ENSP00000348718   ⟸   ENST00000356360
RefSeq Acc Id: ENSP00000434884   ⟸   ENST00000528398
RefSeq Acc Id: ENSP00000431545   ⟸   ENST00000528256
RefSeq Acc Id: ENSP00000435807   ⟸   ENST00000529760
RefSeq Acc Id: ENSP00000432509   ⟸   ENST00000529016
Protein Domains
ENTH

Promoters
RGD ID:6789230
Promoter ID:HG_KWN:13874
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001PBO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361185,396,521 - 85,397,021 (-)MPROMDB
RGD ID:6789231
Promoter ID:HG_KWN:13875
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:ENST00000341783,   ENST00000349405,   ENST00000356360,   ENST00000393343,   ENST00000393346,   UC001PBN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361185,457,331 - 85,458,277 (-)MPROMDB
RGD ID:7221731
Promoter ID:EPDNEW_H16611
Type:initiation region
Name:PICALM_2
Description:phosphatidylinositol binding clathrin assembly protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16612  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,068,857 - 86,068,917EPDNEW
RGD ID:7221733
Promoter ID:EPDNEW_H16612
Type:initiation region
Name:PICALM_1
Description:phosphatidylinositol binding clathrin assembly protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16611  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,069,075 - 86,069,135EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3 copy number gain See cases [RCV000050364] Chr11:84828563..86641166 [GRCh38]
Chr11:84539606..86352208 [GRCh37]
Chr11:84217254..86029856 [NCBI36]
Chr11:11q14.1-14.2		 uncertain 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
GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3 copy number gain See cases [RCV000053637] Chr11:78362208..86165380 [GRCh38]
Chr11:78073254..85876422 [GRCh37]
Chr11:77750902..85554070 [NCBI36]
Chr11:11q14.1-14.2		 pathogenic
NM_001206947.1(PICALM):c.992C>T (p.Ser331Phe) single nucleotide variant Malignant melanoma [RCV000069729] Chr11:86000652 [GRCh38]
Chr11:85711695 [GRCh37]
Chr11:85389343 [NCBI36]
Chr11:11q14.2		 not provided
NM_001206947.1(PICALM):c.-23-8442C>G single nucleotide variant Lung cancer [RCV000110368] Chr11:86040053 [GRCh38]
Chr11:85751095 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_001206947.1(PICALM):c.-23-8518C>A single nucleotide variant Lung cancer [RCV000110369] Chr11:86040129 [GRCh38]
Chr11:85751171 [GRCh37]
Chr11:11q14.2		 uncertain significance
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 11q14.1-14.2(chr11:84828513-86641208)x3 copy number gain See cases [RCV000134108] Chr11:84828513..86641208 [GRCh38]
Chr11:84539556..86352250 [GRCh37]
Chr11:84217204..86029898 [NCBI36]
Chr11:11q14.1-14.2		 uncertain significance
GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3 copy number gain See cases [RCV000139711] Chr11:84765986..86641166 [GRCh38]
Chr11:84477029..86352208 [GRCh37]
Chr11:84154677..86029856 [NCBI36]
Chr11:11q14.1-14.2		 likely pathogenic|uncertain significance
GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3 copy number gain See cases [RCV000148175] Chr11:84828563..86641166 [GRCh38]
Chr11:84539606..86352208 [GRCh37]
Chr11:84217254..86029856 [NCBI36]
Chr11:11q14.1-14.2		 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 11q14.1-14.2(chr11:85324893-85757693)x1 copy number loss See cases [RCV000448261] Chr11:85324893..85757693 [GRCh37]
Chr11:11q14.1-14.2		 uncertain significance
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1 copy number loss See cases [RCV000448436] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21		 likely pathogenic
NM_007166.4(PICALM):c.1770T>G (p.Ala590=) single nucleotide variant not specified [RCV000454453] Chr11:85981138 [GRCh38]
Chr11:85692181 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.766-15A>G single nucleotide variant not specified [RCV000455090] Chr11:86007598 [GRCh38]
Chr11:85718641 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.522G>A (p.Gln174=) single nucleotide variant not specified [RCV000455901] Chr11:86014894 [GRCh38]
Chr11:85725937 [GRCh37]
Chr11:11q14.2		 benign
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 11q14.1-14.2(chr11:85475317-85681916)x1 copy number loss See cases [RCV000510957] Chr11:85475317..85681916 [GRCh37]
Chr11:11q14.1-14.2		 uncertain significance
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 11q14.1-14.2(chr11:85506017-86930835)x3 copy number gain See cases [RCV000512406] Chr11:85506017..86930835 [GRCh37]
Chr11:11q14.1-14.2		 uncertain significance
Single allele deletion Exudative vitreoretinopathy 1 [RCV000677964] Chr11:83315294..86755595 [GRCh37]
Chr11:11q14.1-14.2		 pathogenic
GRCh37/hg19 11q14.2(chr11:85689406-86208902)x3 copy number gain not provided [RCV000683340] Chr11:85689406..86208902 [GRCh37]
Chr11:11q14.2		 uncertain significance
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
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187) copy number loss Intellectual disability [RCV000721939] Chr11:81771852..90851187 [GRCh37]
Chr11:11q14.1-14.3		 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 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2		 pathogenic
GRCh37/hg19 11q14.2(chr11:85642444-85685166)x3 copy number gain not provided [RCV000737609] Chr11:85642444..85685166 [GRCh37]
Chr11:11q14.2		 benign
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_007166.4(PICALM):c.306G>A (p.Thr102=) single nucleotide variant not provided [RCV000925311] Chr11:86026335 [GRCh38]
Chr11:85737377 [GRCh37]
Chr11:11q14.2		 likely benign
NM_007166.4(PICALM):c.1155-8C>T single nucleotide variant not provided [RCV000968908] Chr11:85996937 [GRCh38]
Chr11:85707980 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1155-7T>A single nucleotide variant not provided [RCV000972131] Chr11:85996936 [GRCh38]
Chr11:85707979 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1215A>G (p.Val405=) single nucleotide variant not provided [RCV000901255] Chr11:85996869 [GRCh38]
Chr11:85707912 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1770T>A (p.Ala590=) single nucleotide variant not provided [RCV000906365] Chr11:85981138 [GRCh38]
Chr11:85692181 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.274-1G>A single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850438] Chr11:86026368 [GRCh38]
Chr11:85737410 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1 copy number loss not provided [RCV001006422] Chr11:83530179..87059742 [GRCh37]
Chr11:11q14.1-14.2		 pathogenic
NM_007166.4(PICALM):c.1409-7T>C single nucleotide variant not provided [RCV000925536] Chr11:85983980 [GRCh38]
Chr11:85695023 [GRCh37]
Chr11:11q14.2		 likely benign
NM_007166.4(PICALM):c.942A>G (p.Leu314=) single nucleotide variant not provided [RCV000930744] Chr11:86001110 [GRCh38]
Chr11:85712153 [GRCh37]
Chr11:11q14.2		 benign
NM_007166.4(PICALM):c.1758C>T (p.Thr586=) single nucleotide variant not provided [RCV000956983] Chr11:85981150 [GRCh38]
Chr11:85692193 [GRCh37]
Chr11:11q14.2		 benign
GRCh37/hg19 11q14.2(chr11:85774745-85990954)x3 copy number gain not provided [RCV001006427] Chr11:85774745..85990954 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3 copy number gain not provided [RCV001006426] Chr11:84830143..92029933 [GRCh37]
Chr11:11q14.1-14.3		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15514 AgrOrtholog
COSMIC PICALM COSMIC
Ensembl Genes ENSG00000073921 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000348718 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377015 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431545 UniProtKB/TrEMBL
  ENSP00000431728 UniProtKB/TrEMBL
  ENSP00000432509 UniProtKB/TrEMBL
  ENSP00000432976 UniProtKB/TrEMBL
  ENSP00000433166 UniProtKB/TrEMBL
  ENSP00000433303 UniProtKB/TrEMBL
  ENSP00000433846 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434884 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435311 UniProtKB/TrEMBL
  ENSP00000435499 UniProtKB/TrEMBL
  ENSP00000435737 UniProtKB/TrEMBL
  ENSP00000435807 UniProtKB/TrEMBL
  ENSP00000436508 UniProtKB/TrEMBL
  ENSP00000436852 UniProtKB/TrEMBL
  ENSP00000436958 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000487119 UniProtKB/TrEMBL
Ensembl Transcript ENST00000356360 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393346 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000525162 UniProtKB/TrEMBL
  ENST00000526033 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526961 UniProtKB/TrEMBL
  ENST00000528256 UniProtKB/TrEMBL
  ENST00000528398 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529016 UniProtKB/TrEMBL
  ENST00000529760 UniProtKB/TrEMBL
  ENST00000530542 UniProtKB/TrEMBL
  ENST00000530692 UniProtKB/TrEMBL
  ENST00000531558 UniProtKB/TrEMBL
  ENST00000531930 UniProtKB/TrEMBL
  ENST00000532041 UniProtKB/TrEMBL
  ENST00000532317 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000532603 UniProtKB/TrEMBL
  ENST00000534412 UniProtKB/TrEMBL
  ENST00000630913 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000073921 GTEx
HGNC ID HGNC:15514 ENTREZGENE
Human Proteome Map PICALM Human Proteome Map
InterPro ANTH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_AP_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENTH_VHS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PICALM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8301 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8301 ENTREZGENE
OMIM 601626 OMIM
  603025 OMIM
PANTHER PTHR22951:SF16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33287 PharmGKB
PROSITE ENTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ENTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48464 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R5L7 ENTREZGENE, UniProtKB/TrEMBL
  A0A024R5P1 ENTREZGENE, UniProtKB/TrEMBL
  B5BU72_HUMAN UniProtKB/TrEMBL
  E9PI56_HUMAN UniProtKB/TrEMBL
  E9PJT1_HUMAN UniProtKB/TrEMBL
  E9PK13_HUMAN UniProtKB/TrEMBL
  E9PKP6_HUMAN UniProtKB/TrEMBL
  E9PLJ8_HUMAN UniProtKB/TrEMBL
  H0YCY1_HUMAN UniProtKB/TrEMBL
  H0YD48_HUMAN UniProtKB/TrEMBL
  H0YE97_HUMAN UniProtKB/TrEMBL
  H0YEF7_HUMAN UniProtKB/TrEMBL
  H0YEH1_HUMAN UniProtKB/TrEMBL
  H0YEY8_HUMAN UniProtKB/TrEMBL
  L8ECD8_HUMAN UniProtKB/TrEMBL
  PICAL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DTM3 UniProtKB/Swiss-Prot
  E9PN05 UniProtKB/Swiss-Prot
  F8VPG7 UniProtKB/Swiss-Prot
  O60700 UniProtKB/Swiss-Prot
  Q4LE54 UniProtKB/Swiss-Prot
  Q6GMQ6 UniProtKB/Swiss-Prot
  Q86XZ9 UniProtKB/Swiss-Prot