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

GPANK1 Gene

protein-coding   GIFtS: 46
GCID: GC06M031651

G Patch Domain And Ankyrin Repeats 1

(Previous name: HLA-B associated transcript 4)
(Previous symbol: BAT4)
  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
G Patch Domain And Ankyrin Repeats 11 2     GPATCH102 3
BAT41 2 3 5     HLA-B-Associated Transcript 42 3
G Patch Domain Containing 101 2     D6S54E2 5
Ankyrin Repeat Domain-Containing Protein 592 3     Ankyrin Repeat Domain 591
G Patch Domain-Containing Protein 102 3     HLA-B Associated Transcript 41
Protein G52 3     G Patch Domain And Ankyrin Repeat-Containing Protein 12
ANKRD592 3     G Patch Domain And Ankyrin Repeats-Containing Protein 12
G52 3     Protein BAT42

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 GC06M031647


(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 Gene:
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)

GeneCards Summary for GPANK1 Gene: 
GPANK1 (G patch domain and ankyrin repeats 1) is a protein-coding gene. Diseases associated with GPANK1 include esophageal adenocarcinoma, and systemic lupus erythematosus. GO annotations related to this gene include nucleic acid binding.

Gene Wiki entry for GPANK1 (BAT4) 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_000006.11  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  NT_167249.1  
NC_018917.2  
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 GC06M031651:  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-,NT_167249 2,959,804-2,964,865      Chr6-,NT_167248 2,922,643-2,927,703      Chr6-,NT_167247 3,008,686-3,013,740     
Chr6-,NT_167245 2,914,585-2,919,640      Chr6-,NT_167246 2,971,896-2,976,950      Chr6-,NT_113891.2 3,138,625-3,143,680     

(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: 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

Explore proteomics data for GPANK1 at MOPED 

GPANK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

GPANK1 Protein Expression

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  
 ENSP00000395307   ENSP00000409349   ENSP00000395484  

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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: 
GPATCH: G patch domain containing
ANKRD: Ankyrin repeat domain containing

3 InterPro protein domains:
 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 domains:
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


GPANK1 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

     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


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

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for GPANK1 
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miRNA
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SwitchGear 3'UTR luciferase reporter plasmidGPANK1 3' UTR sequence
Inhib. RNA
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In Situ Assay
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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 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, 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
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GPANK1 (GPAN1)

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

(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 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
8 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 ENST00000458083
ENST00000445768 ENST00000456540
miRNA
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hsa-miR-2115 hsa-miR-4276
SwitchGear 3'UTR luciferase reporter plasmidGPANK1 3' UTR sequence
Inhib. RNA
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OriGene ORF clones in mouse, rat for GPANK1
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPANK1
Sirion Biotech Customized lentivirus for stable overexpression of GPANK1 
                     Customized lentivirus expression plasmids for stable overexpression of GPANK1 
Primer
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OriGene qSTAR qPCR primer pairs in human, mouse for GPANK1
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GPANK1

Additional mRNA 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):

BV188195 AA460293 BM677266 AI089792 CD514026 AA461581 CA421457 BM721664 
CD369616 AA224029 AA587058 BF975913 BX352972 AA777142 AI032575 BX375482 
BE616971 BM796677 CB120434 AL530296 BI871513 AW444916 AA011365 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 <intensity>2/3
CGAP TAG: TCCCGGCCCT
GPANK1 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 qSTAR qPCR primer pairs in human, mouse for GPANK1
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GPANK1
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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 4/9 species (see all 9)    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...
22(a)
1 ↔ 1
II(9671608-9673261)


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, 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

10/58 SNPs in GPANK1 are shown (see all 58)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0200964
----see VAR_0200962 A V mis40--------
VAR_0482934
----see VAR_0482932 S A mis40--------
VAR_0482924
----see VAR_0482922 A V mis40--------
VAR_0646984
----see VAR_0646982 T N mis40--------
VAR_0482914
----see VAR_0482912 R L mis40--------
rs779974191,2
C--31630603(+) AGGAAC/TAAATT 5 -- int10--------
rs593459591,2
C--31630665(+) GAGGCG/AGGCAG 5 -- int13Minor allele frequency- A:0.17CSA NA EA 242
rs92815491,2
C--31630725(+) ttttt-/T/TT  
        
gagat
5 -- int10--------
rs8052601,2
C,A--31630831(-) gctgaC/G/Tgcagg 5 -- int13WA CSA NA 123
rs1508181421,2
C--31630928(+) CGGAGA/GTTGCA 5 -- int10--------

HapMap Linkage Disequilibrium report for GPANK1 (31629006 - 31634060 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for GPANK1:    About this table     
Variant IDTypeSubtypePubMed ID
nsv830627CNV Loss17160897
dgv6581n71CNV Loss21882294
nsv462871CNV Loss19166990
nsv884418CNV Gain21882294


Human Gene Mutation Database (HGMD): GPANK1
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing GPANK1
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 142610    OMIM disorders: --

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


GPANK1 for disorders           About GeneDecksing


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 24):
(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. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PubMed id 22678362)1 Stehling O....Lill R. (2012)
  8. 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)
  9. 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)
  10. 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)

(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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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Category
(GIFtS: 73)
transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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