PDZK1IP1 (PDZK1 interacting protein 1) - Rat Genome Database

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Gene: PDZK1IP1 (PDZK1 interacting protein 1) Homo sapiens
Analyze
Symbol: PDZK1IP1
Name: PDZK1 interacting protein 1
RGD ID: 737282
HGNC Page HGNC:16887
Description: Located in extracellular exosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 17 kDa membrane-associated protein; DD96; epithelial protein up-regulated in carcinoma, membrane associated protein 17; MAP17; membrane-associated protein 17; PDZK1-interacting protein 1; RP1-18D14.5; SPAP
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
GRCh38147,183,582 - 47,190,036 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl147,183,582 - 47,191,044 (-)EnsemblGRCh38hg38GRCh38
GRCh37147,649,254 - 47,655,708 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36147,421,848 - 47,428,358 (-)NCBINCBI36Build 36hg18NCBI36
Build 34147,361,280 - 47,367,791NCBI
Celera145,935,537 - 45,942,046 (-)NCBICelera
Cytogenetic Map1p33NCBI
HuRef145,765,044 - 45,772,416 (-)NCBIHuRef
CHM1_1147,765,993 - 47,772,669 (-)NCBICHM1_1
T2T-CHM13v2.0147,061,100 - 47,068,446 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8701988   PMID:9461128   PMID:9815914   PMID:11997341   PMID:12477932   PMID:12754212   PMID:12837682   PMID:14531806   PMID:15489334   PMID:16169070   PMID:16710414   PMID:17207965  
PMID:17230460   PMID:17426052   PMID:17548903   PMID:17675338   PMID:18303113   PMID:19056867   PMID:19601982   PMID:19913121   PMID:20628086   PMID:22266858   PMID:23376485   PMID:23418532  
PMID:24705354   PMID:25187353   PMID:25788275   PMID:25837675   PMID:27082702   PMID:27563810   PMID:28153862   PMID:28592437   PMID:29650022   PMID:30119639   PMID:30156268   PMID:30718277  
PMID:31273628   PMID:31318583   PMID:31391242   PMID:32296183   PMID:32814053   PMID:32963243   PMID:33280497   PMID:33832535   PMID:33853080   PMID:34719205   PMID:34880493   PMID:35727731  
PMID:36737832  


Genomics

Comparative Map Data
PDZK1IP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38147,183,582 - 47,190,036 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl147,183,582 - 47,191,044 (-)EnsemblGRCh38hg38GRCh38
GRCh37147,649,254 - 47,655,708 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36147,421,848 - 47,428,358 (-)NCBINCBI36Build 36hg18NCBI36
Build 34147,361,280 - 47,367,791NCBI
Celera145,935,537 - 45,942,046 (-)NCBICelera
Cytogenetic Map1p33NCBI
HuRef145,765,044 - 45,772,416 (-)NCBIHuRef
CHM1_1147,765,993 - 47,772,669 (-)NCBICHM1_1
T2T-CHM13v2.0147,061,100 - 47,068,446 (-)NCBIT2T-CHM13v2.0
Pdzk1ip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394114,945,905 - 114,951,091 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4114,945,905 - 114,951,096 (+)EnsemblGRCm39 Ensembl
GRCm384115,088,708 - 115,093,894 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4115,088,708 - 115,093,899 (+)EnsemblGRCm38mm10GRCm38
MGSCv374114,761,313 - 114,766,499 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364114,586,655 - 114,591,825 (+)NCBIMGSCv36mm8
Celera4113,835,857 - 113,841,041 (+)NCBICelera
Cytogenetic Map4D1NCBI
cM Map452.75NCBI
Pdzk1ip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85133,841,586 - 133,859,894 (+)NCBIGRCr8
mRatBN7.25128,618,050 - 128,623,131 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5128,618,237 - 128,623,131 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5131,300,791 - 131,305,577 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05133,030,446 - 133,035,232 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05133,052,131 - 133,056,917 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05133,895,849 - 133,900,720 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5133,896,141 - 133,900,726 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05137,673,875 - 137,692,231 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45135,462,146 - 135,466,968 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15135,467,371 - 135,472,194 (+)NCBI
Celera5127,263,294 - 127,268,116 (+)NCBICelera
Cytogenetic Map5q35NCBI
Pdzk1ip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546411,339,800 - 11,344,492 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546411,339,800 - 11,344,492 (+)NCBIChiLan1.0ChiLan1.0
PDZK1IP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21179,615,486 - 179,622,277 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11178,757,282 - 178,764,089 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0146,489,192 - 46,495,935 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1148,004,744 - 48,011,613 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl148,004,744 - 48,011,613 (-)Ensemblpanpan1.1panPan2
PDZK1IP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11513,479,519 - 13,486,628 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1513,480,548 - 13,486,524 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1513,632,018 - 13,638,435 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01513,629,015 - 13,635,434 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1513,629,353 - 13,635,332 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11513,428,685 - 13,435,103 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01513,496,699 - 13,503,116 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01513,566,206 - 13,572,624 (+)NCBIUU_Cfam_GSD_1.0
Pdzk1ip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505862,196,711 - 62,203,217 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647428,021,568 - 28,027,924 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647428,021,530 - 28,027,070 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDZK1IP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.16164,314,760 - 164,321,172 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PDZK1IP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12085,695,031 - 85,731,819 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603331,348,062 - 31,355,180 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pdzk1ip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248595,619,471 - 5,626,002 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248595,620,568 - 5,625,664 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDZK1IP1
3 total Variants

Clinical 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
GRCh38/hg38 1p33(chr1:46969963-47200507)x3 copy number gain See cases [RCV000139371] Chr1:46969963..47200507 [GRCh38]
Chr1:47435635..47666179 [GRCh37]
Chr1:47208222..47438766 [NCBI36]
Chr1:1p33		 likely benign
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
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 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
GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1 copy number loss not provided [RCV001005086] Chr1:47272184..52505405 [GRCh37]
Chr1:1p33-32.3		 pathogenic
NM_005764.4(PDZK1IP1):c.16C>T (p.Leu6Phe) single nucleotide variant Inborn genetic diseases [RCV003252297] Chr1:47189917 [GRCh38]
Chr1:47655589 [GRCh37]
Chr1:1p33		 uncertain significance
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
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_005764.4(PDZK1IP1):c.205G>A (p.Gly69Arg) single nucleotide variant Inborn genetic diseases [RCV002945884] Chr1:47185069 [GRCh38]
Chr1:47650741 [GRCh37]
Chr1:1p33		 uncertain significance
NM_005764.4(PDZK1IP1):c.221G>A (p.Gly74Glu) single nucleotide variant Inborn genetic diseases [RCV002984543] Chr1:47185053 [GRCh38]
Chr1:47650725 [GRCh37]
Chr1:1p33		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3 copy number gain not specified [RCV003986484] Chr1:47493178..57042671 [GRCh37]
Chr1:1p33-32.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1326
Count of miRNA genes:560
Interacting mature miRNAs:622
Transcripts:ENST00000294338, ENST00000371885, ENST00000489919, ENST00000491793
Prediction methods: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-35625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37147,649,402 - 47,649,607UniSTSGRCh37
Build 36147,421,989 - 47,422,194RGDNCBI36
Celera145,935,678 - 45,935,883RGD
Cytogenetic Map1p33UniSTS
HuRef145,765,185 - 45,765,390UniSTS
GeneMap99-GB4 RH Map1146.4UniSTS
GeneMap99-GB4 RH Map1145.91UniSTS
Whitehead-RH Map1167.7UniSTS
GeneMap99-G3 RH Map12377.0UniSTS
SHGC-74774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37147,654,946 - 47,655,088UniSTSGRCh37
Build 36147,427,533 - 47,427,675RGDNCBI36
Celera145,941,221 - 45,941,363RGD
Cytogenetic Map1p33UniSTS
HuRef145,771,591 - 45,771,733UniSTS
TNG Radiation Hybrid Map126182.0UniSTS
GeneMap99-GB4 RH Map1144.25UniSTS


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 6 6 6 99 19 1
Medium 789 777 185 264 874 105 1311 16 8 222 417 687 166 316 702 1 2
Low 697 1413 1282 302 386 302 1913 604 1392 53 726 656 7 1 762 1351 2
Below cutoff 887 749 239 47 151 47 909 1469 2110 36 265 206 1 125 716

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000294338   ⟹   ENSP00000294338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl147,183,582 - 47,190,036 (-)Ensembl
RefSeq Acc Id: ENST00000371885   ⟹   ENSP00000360952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl147,183,971 - 47,191,044 (-)Ensembl
RefSeq Acc Id: ENST00000489919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl147,183,593 - 47,190,007 (-)Ensembl
RefSeq Acc Id: ENST00000491793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl147,183,600 - 47,185,344 (-)Ensembl
RefSeq Acc Id: NM_005764   ⟹   NP_005755
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38147,183,582 - 47,190,036 (-)NCBI
GRCh37147,649,261 - 47,655,771 (-)ENTREZGENE
Build 36147,421,848 - 47,428,358 (-)NCBI Archive
HuRef145,765,044 - 45,772,416 (-)ENTREZGENE
CHM1_1147,765,993 - 47,772,669 (-)NCBI
T2T-CHM13v2.0147,061,100 - 47,068,446 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_005755 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12303 (Get FASTA)   NCBI Sequence Viewer  
  CAB72104 (Get FASTA)   NCBI Sequence Viewer  
  CAG29300 (Get FASTA)   NCBI Sequence Viewer  
  EAX06878 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000294338
  ENSP00000294338.2
  ENSP00000360952.1
GenBank Protein Q13113 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005755   ⟸   NM_005764
- Peptide Label: precursor
- UniProtKB: Q6ICT9 (UniProtKB/Swiss-Prot),   Q96EI1 (UniProtKB/Swiss-Prot),   Q13113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000360952   ⟸   ENST00000371885
RefSeq Acc Id: ENSP00000294338   ⟸   ENST00000294338

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13113-F1-model_v2 AlphaFold Q13113 1-114 view protein structure

Promoters
RGD ID:6855462
Promoter ID:EPDNEW_H896
Type:initiation region
Name:PDZK1IP1_1
Description:PDZK1 interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38147,190,036 - 47,190,096EPDNEW
RGD ID:6786209
Promoter ID:HG_KWN:2608
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_005764,   OTTHUMT00000091333
Position:
Human AssemblyChrPosition (strand)Source
Build 36147,428,351 - 47,428,851 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16887 AgrOrtholog
COSMIC PDZK1IP1 COSMIC
Ensembl Genes ENSG00000162366 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000294338 ENTREZGENE
  ENST00000294338.7 UniProtKB/Swiss-Prot
  ENST00000371885.1 UniProtKB/Swiss-Prot
GTEx ENSG00000162366 GTEx
HGNC ID HGNC:16887 ENTREZGENE
Human Proteome Map PDZK1IP1 Human Proteome Map
InterPro PDZK1IP1/SMIM24 UniProtKB/Swiss-Prot
KEGG Report hsa:10158 UniProtKB/Swiss-Prot
NCBI Gene 10158 ENTREZGENE
OMIM 607178 OMIM
PANTHER PTHR15296 UniProtKB/Swiss-Prot
  PTHR15296:SF0 UniProtKB/Swiss-Prot
Pfam MAP17 UniProtKB/Swiss-Prot
PharmGKB PA142671188 PharmGKB
UniProt PDZ1I_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6ICT9 ENTREZGENE
  Q96EI1 ENTREZGENE
UniProt Secondary Q6ICT9 UniProtKB/Swiss-Prot
  Q96EI1 UniProtKB/Swiss-Prot