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

GPANK1 Gene

protein-coding   GIFtS: 47
GCID: GC06M031647

G patch domain and ankyrin repeats 1

(Previous name: HLA-B associated transcript 4 )
(Previous symbol: BAT4)
 Explore 6 diseases affiliated with
GPANK1 via our new
 Human Malady Compendium 
Biological research products
for GPANK1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
G Patch Domain And Ankyrin Repeats 11 2     Protein G52 3
BAT41 2 3 5     HLA-B-Associated Transcript 42 3
ANKRD591 2 3     HLA-B Associated Transcript 41
G51 2 3     G Patch Domain And Ankyrin Repeat-Containing Protein 12
GPATCH101 2 3     G Patch Domain And Ankyrin Repeats-Containing Protein 12
D6S54E1 2 5     G Patch Domain Containing 102
Ankyrin Repeat Domain-Containing Protein 592 3     Protein BAT42
G Patch Domain-Containing Protein 102 3     

External Ids:    HGNC: 139201   Entrez Gene: 79182   Ensembl: ENSG000002044387   OMIM: 1426105   UniProtKB: O958723   

Export aliases for GPANK1 gene to outside databases

Previous GC identifers: GC06M031417 GC06M031631 GC06M031635 GC06M031638 GC06M031642


(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 GPANK1:
This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major
histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity.
Multiple alternatively spliced variants, encoding the same protein, have been identified. (provided by RefSeq, Nov
2010)

Gene Wiki entry for GPANK1 (BAT4)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for GPANK1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGPANK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GPANK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GPANK1


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

GPANK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPANK1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M031647:  view genomic region     (about GC identifiers)

Start:
31,629,006 bp from pter      End:
31,634,060 bp from pter
Size:
5,055 bases      Orientation:
minus strand

6 alternative locations:
Chr6-,ALT_REF_LOCI_4 31,592,411-31,595,712      Chr6-,ALT_REF_LOCI_3 31,611,188-31,626,383      Chr6-,ALT_REF_LOCI_6 31,619,246-31,658,990     
Chr6-,ALT_REF_LOCI_2 31,616,421-31,659,767      Chr6-,ALT_REF_LOCI_5 31,620,965-31,624,266      Chr6-,ALT_REF_LOCI_7 31,550,130-31,553,433     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GPAN1_HUMAN, O95872 (See protein sequence)
Recommended Name: G patch domain and ankyrin repeat-containing protein 1  
Size: 356 amino acids; 39314 Da
Secondary accessions: A6NG25 B0UXA2 Q5SQ49

Explore the universe of human proteins at neXtProt for GPANK1: NX_O95872

GPANK1 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins (5 alternative transcripts): 
NP_001186166.1  NP_001186167.1  NP_001186168.1  NP_001186169.1  NP_149417.1  

ENSEMBL proteins: 
 ENSP00000365071   ENSP00000365060   ENSP00000365057   ENSP00000365059   ENSP00000365065  
 ENSP00000404158   ENSP00000395307   ENSP00000409349   ENSP00000400752   ENSP00000395484  

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Uscn Proteins for GPANK1


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Uscn ELISAs and CLIAs for GPANK1


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GPANK1 for domains           About GeneDecksing

3 InterPro domains/families:
 IPR002110 Ankyrin_rpt
 IPR000467 G_patch_dom
 IPR020683 Ankyrin_rpt-contain_dom

Graphical View of Domain Structure for InterPro Entry O95872

ProtoNet protein and cluster: O95872

2 Blocks protein families:
IPB000467 D111/G-patch domain
IPB002110 Ankyrin repeat signature


UniProtKB/Swiss-Prot: GPAN1_HUMAN, O95872
Similarity: Contains 2 ANK repeats
Similarity: Contains 1 G-patch domain


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA
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2 QIAGEN miScript miRNA Assays for microRNAs that regulate GPANK1:
hsa-miR-2115 hsa-miR-4276
SwitchGear 3'UTR luciferase reporter plasmidGPANK1 3' UTR sequence
Inhib. RNA
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPANK1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003676nucleic acid binding IEA--
GO:0005515protein binding ----


GPANK1 for ontologies           About GeneDecksing


1 GenomeRNAi human phenotype for GPANK1:
 Decreased POU5F1-GFP protein e 


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GPANK1

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

5 Interacting proteins for GPANK1 (O958722, 3 ENSP000003650574) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CCDC85BQ158342, 3, ENSP000003116954MINT-68152 I2D: score=5 STRING: ENSP00000311695
GRB2P629933I2D: score=2 
LZTS2Q9BRK43I2D: score=1 
NPM1P067483I2D: score=1 
SAA4P355423I2D: score=1 
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GPANK1
Search CenterWatch for drugs/clinical trials and news about GPANK1 / GPAN1 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GPANK1 gene (5 alternative transcripts): 
NM_001199237.1  NM_001199238.1  NM_001199239.1  NM_001199240.1  NM_033177.3  

Unigene Clusters for GPANK1:

G patch domain and ankyrin repeats 1
Hs.247478  [show with all ESTs], Hs.732291  [show with all ESTs]
Unigene Representative Sequences: AK123707, BM542969
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000375906(uc003nvn.3 uc021yuu.1 uc003nvo.4 uc003nvp.4 uc003nvq.3)
ENST00000375896 ENST00000375893 ENST00000375895 ENST00000375900 ENST00000440842
ENST00000458083 ENST00000445768 ENST00000432291 ENST00000456540

miRNA
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2 QIAGEN miScript miRNA Assays for microRNAs that regulate GPANK1:
hsa-miR-2115 hsa-miR-4276
SwitchGear 3'UTR luciferase reporter plasmidGPANK1 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GPANK1 (see all 4)
OriGene shRNA RFP: GPANK1
OriGene siRNA: GPANK1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GPANK1
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GPANK1
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GenScript: all cDNA clones in your preferred vector (see all 5): GPANK1 (NM_001199237)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPANK1 
Primer
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OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GPANK1
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GPANK1

Additional cDNA sequence: AF087962.1 

16 DOTS entries:

DT.313298  DT.40250887  DT.97859091  DT.100797071  DT.100732064  DT.100797079  DT.100797082  DT.95175640 
DT.100797072  DT.121325884  DT.95175639  DT.95175638  DT.121325869  DT.95175629  DT.95175632  DT.91821546 

24/49 AceView cDNA sequences (see all 49):

BM721664 AA224029 CA421457 AA461581 CD369616 BM677266 AI089792 AA460293 
CD514026 BV188195 AW083218 AI219085 AL530297 AI458871 AW444916 AA587058 
AL530296 BX352972 BE616971 AI991338 CB120434 AA011365 AA897700 BG123018 

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

GPANK1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCCGGCCCT

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See GPANK1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GPANK1

SOURCE GeneReport for Unigene clusters: Hs.247478 Hs.732291
    SABiosciences Custom PCR Arrays for GPANK1
Primer
Products:
OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GPANK1
Browse OriGene validated miRNA SYBR primer pairs
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GPANK1
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GPANK1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPANK1

(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 animals.

Orthologs for GPANK1 gene from 4/14 species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gpank11 , 5 G patch domain and ankyrin repeats 11, 5 80.6(n)1
80.98(a)1
  17 (18.59 cM)5
818451  NM_001128597.11  NP_001122069.11 
 351214555 
zebrafish
(Danio rerio)
Actinopterygii zgc:1717771 zgc:171777 49.19(n)
40.24(a)
  100126023  NM_001105703.1  NP_001099173.1 
fruit fly
(Drosophila melanogaster)
Insecta CG81521 CG8152 44.2(n)
33.33(a)
  36696  NM_137184.1  NP_611028.1 
worm
(Caenorhabditis elegans)
Secernentea ZK1320.76
G patch domain and ankyrin repeat-containing prote...
20(a)
1 ↔ 1
II(9671549-9673202)


ENSEMBL Gene Tree for GPANK1 (if available)
TreeFam Gene Tree for GPANK1 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/73 NCBI SNPs in GPANK1 are shown (see all 73    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs8052621,2
C,F,A,H,--31628733(-) CGACCG/AAGTTT 6 -- ds5001 us2k126Minor allele frequency- A:0.37MN NS EA NA CSA 3113
rs1892339371,2
--31629000(+) TGTAGA/GCAAAT 6 -- ds5001 us2k10--------
rs1442349371,2
C,--31629022(+) GAAGT-/TTGAC 
        
TTAAA
6 -- ut31 us2k10--------
rs560455281,2
C--31629024(+) AGTTTGACTT/
        
AAAGT
6 -- us2k1 ut311Minor allele frequency- -:0.50NA 2
rs770447851,2
C--31629025(+) AGTTTA/GAAGTT 6 -- ut31 us2k10--------
rs746244951,2
C--31629027(+) TTTAAA/CGTTTA 6 -- ut31 us2k10--------
rs7079201,2
C,F,A,H,--31629096(-) TAGGAA/GGGCCC 6 -- us2k1 ut3124Minor allele frequency- G:0.48MN NS EA NA WA CSA 2655
rs1807530091,2
--31629129(+) AACCCA/TACCCA 6 -- us2k1 ut310--------
rs8052611,2
C,F,H,--31629211(-) CATGAG/ACCACC 6 -- ut31 us2k1 ese32Minor allele frequency- A:0.14WA EA 238
rs1434794641,2
--31629324(+) AATACA/CAAATT 6 -- ut31 us2k10--------

HapMap Linkage Disequilibrium report for GPANK1 (31629006 - 31634060 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for GPANK1: --
Human Gene Mutation Database (HGMD): GPANK1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GPANK1 for disorders           About GeneDecksing

OMIM gene information: 142610    OMIM disorders: --

6 diseases for GPANK1:    About MalaCards
systemic lupus erythematosus    lupus erythematosus    rheumatoid arthritis    arthritis
esophagitis    adenocarcinoma


Export disorders for GPANK1 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 GPANK1 gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with GPANK1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
  3. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PubMed id 14656967)1, 2 Xie T.... Hood L. (2003)
  4. A new cluster of genes within the human major histocompatibility complex. (PubMed id 2911734)1, 3 Spies T....Strominger J.L. (1989)
  5. Human major histocompatibility complex contains a minimum of 19 genes between the complement cluster and HLA-B. (PubMed id 2813433)1, 3 Spies T....Strominger J.L. (1989)
  6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
  7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
  8. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PubMed id 21248752)2 Varela I....Futreal P.A. (2011)
  9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
  10. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1 Liu C.Y....Christiani D.C. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 7918 HGNC: 13920 AceView: BAT4.1 Ensembl:ENSG00000204438 euGenes: HUgn7918
ECgene: GPANK1 H-InvDB: GPANK1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for GPANK1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for GPANK1 gene:
Search GeneIP for patents involving GPANK1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

 
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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VWF
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von Willebrand factor
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