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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UPK1A Gene

protein-coding   GIFtS: 54
GCID: GC19P036157

Uroplakin 1A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Uroplakin 1A1 2     tspan-212
Uroplakin Ia2 3     uroplakin-1a2
TSPAN212 3     Tetraspanin-213
UPIA2 5     Tspan-213
UP1A2     UP1a3
UPKA2     UPIa3
tetraspanin-212     UPKa3

External Ids:    HGNC: 125771   Entrez Gene: 110452   Ensembl: ENSG000001056687   OMIM: 6115575   UniProtKB: O003223   

Export aliases for UPK1A gene to outside databases

Previous GC identifers: GC19P036796 GC19P036606 GC19P040833 GC19P040849 GC19P032663


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UPK1A Gene:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin
family. Most of these members are cell-surface proteins that are characterized by the presence of four
hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell
development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane
(AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder
epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in
stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor
suppression. Alternative splicing results in multiple transcript variants of this gene. (provided by RefSeq, Jul
2013)

GeneCards Summary for UPK1A Gene: 
UPK1A (uroplakin 1A) is a protein-coding gene. Diseases associated with UPK1A include ovarian brenner tumor, and alpha-mannosidosis. GO annotations related to this gene include protein homodimerization activity and monosaccharide binding. An important paralog of this gene is UPK1B.

UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322
Function: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by
terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology,
possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane
through AUM/cytoskeletal interactions (By similarity)

Gene Wiki entry for UPK1A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UPK1A gene promoter:
         USF1   Elk-1   AML1a   Tal-1beta   c-Ets-1   YY1   USF-1   ARP-1   ITF-2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUPK1A promoter sequence
   Search SABiosciences Chromatin IP Primers for UPK1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UPK1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.13   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.1

UPK1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPK1A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P036157:  view genomic region     (about GC identifiers)

Start:
36,157,715 bp from pter      End:
36,169,367 bp from pter
Size:
11,653 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322 (See protein sequence)
Recommended Name: Uroplakin-1a  
Size: 258 amino acids; 28879 Da
Subunit: Homodimer; disulfide-linked. Interacts with uroplakin-2 (UPK2) (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q3KNU5 Q3KNU6
Alternative splicing: 2 isoforms:  O00322-1   O00322-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UPK1A: NX_O00322

Explore proteomics data for UPK1A at MOPED 

UPK1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

UPK1A Protein Expression

REFSEQ proteins (2 alternative transcripts): 
NP_001268372.1  NP_008931.1  

ENSEMBL proteins: 
 ENSP00000368298   ENSP00000222275  

Human Recombinant Protein Products for UPK1A: 
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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum ISS--
GO:0005886plasma membrane TAS15088894
GO:0016021integral to membrane ISS--
GO:0016324apical plasma membrane IEA--

UPK1A for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
TSPAN: Tetraspanins

3 InterPro protein domains:
 IPR018499 Tetraspanin/Peripherin
 IPR000301 Tetraspanin
 IPR008952 Tetraspanin_EC2

Graphical View of Domain Structure for InterPro Entry O00322

ProtoNet protein and cluster: O00322

1 Blocks protein domain: IPB000301 Transmembrane four family signature

UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322
Similarity: Belongs to the tetraspanin (TM4SF) family


UPK1A for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: UPK1A_HUMAN, O00322
Function: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by
terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology,
possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane
through AUM/cytoskeletal interactions (By similarity)

     Genatlas biochemistry entry for UPK1A:
uroplakin 1A,urothelium specific transmembrane protein forming 12nm protein particles in association with other
UPKs,at the asymetric unit membrane of the bladder epithelium,strenghthening and stabilizing the urothelial
epithelial surface trough its interactions with the underlying cytoskeleton,continuously expressed by the
majority of transitional cell carcinoma of the bladder (TCC), in a region of partial synteny to chromosome 11

     Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
GO:0042803protein homodimerization activity ISS--
GO:0048029monosaccharide binding ISS--
     
UPK1A for ontologies           About GeneDecksing


Phenotypes:
     3 GenomeRNAi human phenotypes for UPK1A:
 Increased G1 DNA content  Increased cell size  Increased gamma-H2AX phosphory 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for UPK1A 
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section




Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UPK1A

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for UPK1A (O003223 ENSP000002222754) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
UPK2O005263, ENSP000002640314I2D: score=2 STRING: ENSP00000264031
About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030855epithelial cell differentiation IDA10514386
GO:0051259protein oligomerization ISS--

UPK1A for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

UPK1A for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UPK1A

1 Novoseek inferred chemical compound relationship for UPK1A gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
mannose 57.2 3 16567801 (2)

Search CenterWatch for drugs/clinical trials and news about UPK1A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for UPK1A gene (2 alternative transcripts): 
NM_001281443.1  NM_007000.3  

Unigene Cluster for UPK1A:

Uroplakin 1A
Hs.159309  [show with all ESTs]
Unigene Representative Sequence: NM_007000
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000379013(uc010eeh.3) ENST00000222275(uc002oaw.3)
miRNA
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UPK1A

Additional mRNA sequence: 

AF085807.1 BC107097.1 BC107098.1 

2 DOTS entries:

DT.40233466  DT.121498486 

6 AceView cDNA sequences:

NM_007000 AI784039 AI633692 AF085807 AW629730 AA548647 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

UPK1A expression in normal human tissues (normalized intensities)      UPK1A embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCAGGCATCG
UPK1A Expression
About this image


UPK1A expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/12 selected tissues (see all 12) fully expand
 
 Lower Urinary Tract (Urinary System)    fully expand to see all 5 entries
         Ureter Cells Ureter
         urinary bladder ; urothelial cells   
         urethra   
 
 Colon (Gastrointestinal Tract)
         colon ; peripheral nerve/ganglion   
 
 Peripheral Nervous System (Nervous System)
         colon ; peripheral nerve/ganglion   
 
 Kidney (Urinary System)
         Ureter Cells Ureter
 
 Oral Cavity (Muscoskeletal System)
         tongue squamous cells   

See UPK1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UPK1A

SOURCE GeneReport for Unigene cluster: Hs.159309

UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322
Tissue specificity: High expression restricted to ureteric urothelium (most superficial cells); low expression in
prostate. Expression in normal urothelial cells is lost in culture. Some expression in tumor cell lines derived
from urothelial malignancies

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for UPK1A gene from 4/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Upk1a1 , 5 uroplakin 1A1, 5 87.63(n)1
93.36(a)1
  7 (18.78 cM)5
1096371  NM_026815.21  NP_081091.11 
 306030925 
lizard
(Anolis carolinensis)
Reptilia UPK1A6
uroplakin 1A
67(a)
1 ↔ 1
GL343276.1(1343553-1370703)
African clawed frog
(Xenopus laevis)
Amphibia Xl.81432 Xenopus laevis transcribed sequence with weak similarity more 77.38(n)    BX851388.1 
zebrafish
(Danio rerio)
Actinopterygii upk1a1 uroplakin 1a 53.66(n)
46.75(a)
  678515  NM_001040242.1  NP_001035332.1 


ENSEMBL Gene Tree for UPK1A (if available)
TreeFam Gene Tree for UPK1A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for UPK1A gene
UPK1B2  
1 SIMAP similar gene for UPK1A using alignment to 1 protein entry:     UPK1A_HUMAN:
UPK1B

UPK1A for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/233 SNPs in UPK1A are shown (see all 233)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0523324
----see VAR_0523322 S A mis40--------
rs129748311,2
H--36155732(+) cgaggT/Gtcaag 1 -- us2k14Minor allele frequency- G:0.00NS EA 420
rs1909530271,2
--36155794(+) CACCAC/TGACTG 1 -- us2k10--------
rs1487802121,2
--36155844(+) GTTAGG/TCAGCC 1 -- us2k10--------
rs1834050091,2
--36155869(+) CCCCCC/GACCCT 1 -- us2k10--------
rs1889619501,2
--36155968(+) CAAATG/TAACCA 1 -- us2k10--------
rs1925079321,2
--36155997(+) TCATGC/TATCTT 1 -- us2k10--------
rs1157911901,2
C,F--36156119(+) TTGGGG/ATTGAG 1 -- us2k11Minor allele frequency- A:0.08WA 118
rs1826495961,2
C--36156130(+) AAGTTC/GTGGGG 1 -- us2k10--------
rs1424467201,2
--36156135(+) CTGGGG/TACGGT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for UPK1A (36157715 - 36169367 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for UPK1A:    About this table     
Variant IDTypeSubtypePubMed ID
esv2666558CNV Deletion23128226
nsv526166CNV Loss19592680
dgv3852n71CNV Loss21882294
nsv817832CNV Loss17921354

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 611557    OMIM disorders: --

10 diseases for UPK1A:    About MalaCards
ovarian brenner tumor    alpha-mannosidosis    transitional cell carcinoma    bladder transitional cell carcinoma
vesicoureteral reflux    cystitis    esophageal squamous cell carcinoma    esophagitis
squamous cell carcinoma    prostatitis

2 diseases from the University of Copenhagen DISEASES database for UPK1A:
Vesicoureteral reflux     Cystitis

UPK1A for disorders           About GeneDecksing

3 Novoseek inferred disease relationships for UPK1A gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
carcinoma transitional cell 52.3 1 12474225 (1)
bladder cancer 29.8 1 10404304 (1)
metastasis 0 1 12474225 (1)

Genetic Association Database (GAD): UPK1A
Human Genome Epidemiology (HuGE) Navigator: UPK1A (1 document)

Export disorders for UPK1A gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for UPK1A gene, integrated from 9 sources (see all 32):
(articles sorted by number of sources associating them with UPK1A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Uroplakin gene expression by normal and neoplastic human urothelium. (PubMed id 9846985)1, 2, 3 Lobban E.D.... Southgate J. (1998)
  2. Expression of transitional cell-specific genes, uroplakin Ia and II, in bladder cancer: detection of circulating cancer cells in the peripheral blood of metastatic patients. (PubMed id 10404304)1, 3, 9 Yuasa T....Okada Y. (1999)
  3. Transcriptional control of the human urothelial-specific gene, uroplakin Ia. (PubMed id 15913809)1, 2, 9 Hall G.D.... Chester J.D. (2005)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  5. Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. (PubMed id 15200408)1, 4 Jiang S....Sun T.T. (2004)
  6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
  7. Selective interactions of UPIa and UPIb, two members of the transmembrane 4 superfamily, with distinct single transmembrane-domained proteins in differentiated urothelial cells. (PubMed id 8530366)1, 9 Wu X.R....Sun T.T. (1995)
  8. Characterization of a candidate tumor suppressor gene uroplakin 1A in esophageal squamous cell carcinoma. (PubMed id 20978196)1 Kong K.L....Guan X.Y. (2010)
  9. Uropathogenic E. coli adhesin-induced host cell recep tor conformational changes: implications in transmembrane signaling transductio n. (PubMed id 19577575)1 Wang H....Kong X.P. (2009)
  10. Expression profiles and pathway analysis in HEK 293 T cells overexpressing HIV-1 Tat and nucleocapsid using cDNA microarray. (PubMed id 18051367)1 Park S.E....Park J.H. (2007)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 11045 HGNC: 12577 AceView: UPK1A Ensembl:ENSG00000105668 euGenes: HUgn11045
ECgene: UPK1A H-InvDB: UPK1A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for UPK1A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
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