ANK1 Gene
protein-coding GIFtS : 64
GCID: GC08 M041510
ankyrin 1, erythrocytic (Previous symbol: ANK )
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Aliasesfor ANK1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Ankyrin 1, Erythrocytic 1 2 SPH22 5 ANK1 2 3 Ankyrin-11 SPH11 2 Ankyrin-R3 Erythrocyte Ankyrin2 3 Ankyrin-R3 ANK-12 3
Export aliases for ANK1 gene to outside databases Previous GC identifers: GC08M042256 GC08M041539 GC08M041251 GC08M041528 GC08M041629 GC08M040038
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Summariesfor ANK1 gene (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 ANK1 : Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. (provided by RefSeq, Dec 2008) UniProtKB/Swiss-Prot: ANK1_HUMAN, P16157 Function : Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions Function : Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmicreticulum and myofibrils Gene Wiki entry for ANK1
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Genomic Viewsfor ANK1 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000008.10 NC_018919.1 NT_167187.1 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ANK1 gene promoter: TBP Other transcription factors Search SABiosciences Chromatin IP Primers for ANK1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ANK1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 8p11.1 Ensembl cytogenetic band: 8p11.21 HGNC cytogenetic band: 8p11.21 ANK1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 8 GeneLoc Exon Structure
GeneLoc location for GC08M041510: view genomic region
(about GC identifiers )
Start:
41,510,739 bp from pter
End:
41,754,280 bp from pter
Size:
243,542 bases
Orientation:
minus strand
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Proteinsfor ANK1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: ANK1_HUMAN, P16157 (See
protein sequence )Recommended Name: Ankyrin-1 Size : 1881 amino acids; 206265 Da
Subunit : Interacts with a number of integral membrane proteins and cytoskeletal proteins. Interacts (via N-terminus)with SPTB/spectrin (beta chain). Interacts (via N-terminus ANK repeats) with SLC4A1/erythrocyte membrane protein band 3 (via cytoplasmic N-terminus). Also interacts with TTN/titin. Isoform Mu17 interacts with OBSCN isoform 3/obscurin. Interacts with HIF1AN
Subcellular location : Isoform Er1: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, arelocated near the surface of erythrocytic plasma membrane
Subcellular location : Isoform Mu17: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCNisoform 3/obscurin at the M line in differentiated skeletal muscle cells
Subcellular location : Isoform Mu18: Sarcoplasmic reticulum (Probable)
Subcellular location : Isoform Mu19: Sarcoplasmic reticulum (Probable)
Subcellular location : Isoform Mu20: Sarcoplasmic reticulum (Probable)
Sequence caution : Sequence=AAB47805.1; Type=Erroneous gene model prediction;
6/8 PDB 3D structures from and Proteopedia for ANK1 (see all 8 ):1N11 (3D)
  2YQF (3D)
  2YVI (3D)
  3F59 (3D)
  3KBT (3D)
  3KBU (3D)
 
Secondary accessions : A0PJN8 A6NJ23 O43400 Q13768 Q53ER1 Q59FP2 Q8N604 Q99407Alternative promoter usage, Alternative splicing : 22 isoforms : P16157-1 P16157-4 P16157-5 P16157-6 P16157-3 P16157-7 P16157-8 P16157-9 P16157-10 P16157-11 P16157-12 P16157-13 P16157-14 P16157-15 P16157-16 P16157-2 P16157-17 P16157-18 P16157-19 P16157-20 P16157-21 P16157-22 (Produced by alternative splicing)Explore the universe of human proteins at neXtProt for ANK1: NX_P16157 Post-translational modifications:
Regulated by phosphorylation1
Palmitoylated1
Hydroxylated by HIF1AN at several asparagine and 1 aspartate residue within ANK repeat region. Hydroxylation seems to increase the conformational stability of this region and may also modulate protein-protein interactions mediated by the ANK repeat region1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P16157 ANK1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (8 alternative transcripts):
NP_000028.3 NP_001135917.1 NP_001135918.1 NP_065208.2 NP_065209.2 NP_065210.2 NP_065211.2 NP_065213.2 ENSEMBL proteins: ENSP00000339620 ENSP00000289734 ENSP00000428750 ENSP00000430368 ENSP00000319123 ENSP00000430174 ENSP00000265709 ENSP00000297744 ENSP00000335031 ENSP00000428315 ENSP00000369082 ENSP00000380149 ENSP00000403589 ENSP00000380147 ENSP00000309131 Reactome Protein details: P16157 Human Recombinant Protein Products: Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9 ): About this table
ANK1 for ontologies About GeneDecksing ANK1 Antibody Products: Assay Products for ANK1:
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Protein
Domains / Familiesfor ANK1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ANK1 for domains About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P16157 ProtoNet protein and cluster: P16157
3 Blocks protein families : IPB000488 Death domain IPB000906 ZU5 domain IPB002110 Ankyrin repeat signature UniProtKB/Swiss-Prot: ANK1_HUMAN, P16157 Domain : The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) andSLC4A1/erythrocyte membrane protein band 3 Domain : The ANK repeat region forms a spiral around a large central cavity and is involved in binding of iontransporters Domain : The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function other than binding to spectrin (By similarity) Similarity : Contains 23 ANK repeatsSimilarity : Contains 1 death domainSimilarity : Contains 2 ZU5 domains
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Functionfor ANK1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 Function Summary: UniProtKB/Swiss-Prot: ANK1_HUMAN, P16157 Function : Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions Function : Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmicreticulum and myofibrils
Genatlas biochemistry entry for ANK1 : ankyrin 1,206kDa,erythrocyte membrane protein,intermediate filament associated protein (IFAP,type III),also expressed in neural tissue and skeletal muscle Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ANK1 (see all 11 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ANK1 (see all 8 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 8 ): ANK1 (NM_020475 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ANK1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ANK1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANK1
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7 ): About this table
ANK1 for ontologies About GeneDecksing Animal Models: 14 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Ank1) :
ANK1 for phenotypes About GeneDecksing
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Pathways & Interactionsfor ANK1 gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/6 super-pathways (see all 6 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Axon guidance 2 NrCAM interactions 3 Neurofascin interactions 4 CHL1 interactions 5 Interaction between L1 and Ankyrins
Pathway sources See GeneCards unified pathways Show all pathways 1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ANK1 5/7
Reactome Pathways for ANK1 (see all 7 )
ANK1 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ANK1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/27 Interacting proteins for ANK1 (P16157 1 , 2 , 3 ENSP00000265709 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 27 )About this table Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10 ): About this table
ANK1 for ontologies About GeneDecksing
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Drugs & Compoundsfor ANK1 gene (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
ANK1 for compounds About GeneDecksing Browse Tocris compounds for ANK1 6 Novoseek chemical compound relationships for ANK1 gene About this table
Search CenterWatch for drugs/clinical trials and news about ANK1
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Transcriptsfor ANK1 gene (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 ANK1 gene (10 alternative transcripts): NM_000037.3 NM_001142445.1 NM_001142446.1 NM_020475.2 NM_020476.2 NM_020477.2 NM_020478.4 NM_020480.4 NM_020479.2 NM_020481.2 Unigene Cluster for ANK1:
Ankyrin 1, erythrocytic Hs.654438 [show with all ESTs ] Unigene Representative Sequence: NM_001142446 18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19 ): ENST00000347528 (uc003xoj.3 uc003xok.3 uc003xol.3 uc003xom.3 )ENST00000289734 (uc003xoh.3 uc003xoi.3 ) ENST00000522231 ENST00000522543 ENST00000314214 ENST00000520299 ENST00000265709 ENST00000348036 ENST00000524227 ENST00000335651 ENST00000518715 ENST00000518061 ENST00000524069 ENST00000521407 ENST00000379758 ENST00000396945 ENST00000457297 (uc011lcl.2 uc003xod.3 uc003xoc.3 uc003xof.3 )ENST00000396942 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ANK1 (see all 11 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ANK1 (see all 8 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 8 ): ANK1 (NM_020475 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ANK1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ANK1
Additional cDNA sequence: AB209418.1 AK126647.1 AK223578.1 BC007930.2 BC014467.1 BC030957.1 BC117121.1 BX647936.1 M28880.1 X16609.1
15 DOTS entries : DT.100751174 DT.102844156
DT.91775389 DT.91775385 DT.91775421 DT.100671224 DT.102844157 DT.95141964 DT.100751175 DT.100745555 DT.446414 DT.91775424 DT.91849266 DT.75102807 DT.40113153 24/127 AceView cDNA sequences (see all 127 ):
BC030957 BQ718623 AA422077 AI420193 T58012 AA464755 CA433323 AA477644 AI801936 CA396213 AI092367 AA326571 AI659683 BM909053 BU192234 T28060 BC014467 AK126647 NM_000037 AI693242 X16609 AI630380 BU656434 AK129864 GeneLoc Exon Structure 5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ANK1 (see all 12 ) About this scheme ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ SP1 :                                               -       SP2 :                                               -       SP3 :                                                     SP4 :                                                     SP5 :                                                    
ExUns: 26a · 26b ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44a · 44b · 44c · 44d · 44e ^ SP1 : -   -                                       -   -   -   -   -   -   SP2 : -   -                                       -   -   -   -   -   -   SP3 : -   -                                       -   -   -   -   -   -   SP4 : -   -                                 -       -   -   -   -   -   -   SP5 :                                         -   -   -   -   -   -  
ExUns: 45 ^ 46a · 46b · 46c ^ 47a · 47b ^ 48a · 48b · 48c · 48d · 48e SP1 :     -   -                 SP2 :       -   -   -             SP3 :     -   -   -   -             SP4 :     -   -                 SP5 :                      
ECgene alternative splicing isoforms for ANK1
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Expression for ANK1 gene
(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 ANK1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TGGGCTTCCT
About this image ANK1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See ANK1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ANK1 SOURCE GeneReport for Unigene cluster: Hs.654438 UniProtKB/Swiss-Prot: ANK1_HUMAN, P16157 Tissue specificity : Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. IsoformBr21 is expressed in brain SABiosciences Custom PCR Arrays for ANK1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ANK1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ANK1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ANK1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ANK1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANK1
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Orthologsfor ANK1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for ANK1 gene from 8/25 species (see all 25 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
ANK11
ankyrin 1, erythrocytic
77.58(n) 82.92(a)
 
396311 XM_424401.3 XP_424401.3
lizard (Anolis carolinensis)
Reptilia
ANK16
--
79(a)
1 ↔ 1
GL343545.1(971-121593)
African clawed frog (Xenopus laevis)
Amphibia
BJ064997.12
--
77.41(n)
 
BJ064997.1
zebrafish (Danio rerio)
Actinopterygii
LOC7976621
ankyrin-1-like
67.84(n) 71.59(a)
 
797662 XM_003200863.1 XP_003200911.1
fruit fly (Drosophila melanogaster)
Insecta
Ank23
cytoskeletal anchoring cytoskeletal protein binding
53(a) (best of 3)
 
66A10 --
worm (Caenorhabditis elegans)
Secernentea
Y71A12B.43
--
30(a) (best of 2)
 
I(13910265-13921903) --
thale cress (Arabidopsis thaliana)
eudicotyledons
AT5G142301
hypothetical protein
41.68(n) 30.44(a)
 
831273 NM_121427.7 NP_196927.4
rice (Oryza sativa)
Liliopsida
Os02g04575001
hypothetical protein
42.13(n) 29.89(a)
 
4329284 NM_001053313.1 NP_001046778.1
ENSEMBL Gene Tree for ANK1 (if available)TreeFam Gene Tree for ANK1 (if available)
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Paralogsfor ANK1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ANK1 gene TANC2 2 TNKS2 2 ANKRD17 2 ANK3 2 ANKHD1 2 ANKRD52 2 ANKHD1-EIF4EBP3 2 TNKS 2 ANKRD50 2 TANC1 2 INVS 2 ANKRD28 2 ANK2 2 ANKRD44 2 18/25 SIMAP similar genes for ANK1 using alignment to 6 protein entries: ANK1_HUMAN (see all proteins )
(see all similar genes ):hANK1 ANK3 GABPB1 DKFZp566P0524 ANK2 ANKRD44 IkBa ACAP3 CDKN2D PPP1R12A DKFZp686M09125 ANKRD54 PSMD10 DKFZp434B2328 DKFZp761E1322 MTPN ANKRD29 CDKN2C
ANK1 for paralogs About GeneDecksing
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Genomic Variantsfor ANK1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 8 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ANK1 (41510739 - 41754280 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for ANK1 3 CNVs : 10251 95395 82583 1 Indel : 82584 Human Gene Mutation Database (HGMD) : ANK1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ANK1
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Disorders
/ Diseasesfor ANK1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
ANK1 for disorders About GeneDecksing OMIM gene information: 612641 OMIM disorders : 182900 UniProtKB/Swiss-Prot: ANK1_HUMAN, P16157
Defects in ANK1 are a cause of spherocytosis type 1 (SPH1) [MIM:182900]; also called hereditary spherocytosis type 1 (HS1). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Inheritance can be autosomal dominant or recessive 20/24 diseases for ANK1 (see all 24 ): About MalaCards spherocytosis hereditary spherocytosis contagious pustular dermatitis spherocytosis, type 1 hereditary elliptocytosis elliptocytosis ehrlichiosis hemolytic anemia kallmann syndrome sickle cell disease cowpox smallpox werner syndrome anemia vaccinia dermatitis myopathy breast carcinoma colorectal cancer ischemia 3 diseases from the University of Copenhagen DISEASES database for ANK1 :Hereditary elliptocytosis Anemia Cowpox 6 Novoseek disease relationships for ANK1 gene About this table
Human Genome Epidemiology (HuGE) Navigator: ANK1 (5 documents) Export disorders for ANK1 gene to outside databases
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Publicationsfor ANK1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ANK1 gene, integrated from 9 sources (see all 159 ): (articles sorted by number of sources associating them with ANK1) Utopia : connect your pdf to the dynamic world of online information
cDNA sequence for human erythrocyte ankyrin. (PubMed id 1689849) 1 , 2 , 3, 9 Lambert S.... Palek J. (1990) Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. (PubMed id 8640229) 1 , 2 , 9 Eber S.W.... Lux S.E. (1996) Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing. (PubMed id 9235914) 1 , 2 , 9 Gallagher P.G.... Forget B.G. (1997) An alternate promoter directs expression of a truncated, muscle- specific isoform of the human ankyrin 1 gene. (PubMed id 9430667) 1 , 2 , 9 Gallagher P.G. and Forget B.G. (1998) Mapping the binding sites of human erythrocyte ankyrin for the anion exchanger and spectrin. (PubMed id 2141335) 1 , 2 , 9 Davis L.H. and Bennett V. (1990) Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins. (PubMed id 2137557) 1 , 2 , 9 Lux S.E.... Bennett V. (1990) Asparagine and aspartate hydroxylation of the cytoske letal ankyrin family is catalyzed by factor-inhibiting hypoxia-inducible factor . (PubMed id 21177872) 1 , 2 Yang M....Schofield C.J. (2011) 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) Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles. (PubMed id 12527750) 1 , 2 Bagnato P.... Sorrentino V. (2003) The hydrophilic domain of small ankyrin-1 interacts with the two N- terminal immunoglobulin domains of titin. (PubMed id 12444090) 1 , 2 Kontrogianni-Konstantopoulos A. and Bloch R.J. (2003)
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External Searches for ANK1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ANK1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing ANK1 gene
(According to HUGE )
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Specialized Databases showing ANK1 gene (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
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About This Section Patent Information for ANK1 gene: Search GeneIP for patents involving ANK1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ANK1 gene (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
Browse OriGene Antibodies OriGene shRNA RFP for ANK1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ANK1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ANK1 OriGene Protein Over-expression Lysate for ANK1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ANK1 OriGene 3'-UTR Clone for ANK1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ANK1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ANK1 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for ANK1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ANK1 OriGene Custom Protein Services for ANK1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ANK1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ANK1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ANK1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ANK1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ANK1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ANK1
Search Tocris compounds for ANK1
ANK1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANK1
ThermoFisher Antibodies for ANK1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ANK1
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