Aliases for ANK1 Gene
Aliases for ANK1 Gene
External Ids for ANK1 Gene
- HGNC: 492
- Entrez Gene: 286
- Ensembl: ENSG00000029534
- OMIM: 612641
- UniProtKB: P16157
Previous HGNC Symbols for ANK1 Gene
- ANK
Previous GeneCards Identifiers for ANK1 Gene
- GC08M042256
- GC08M041539
- GC08M041251
- GC08M041528
- GC08M041510
- GC08M040038
Summaries for ANK1 Gene
-
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]
GeneCards Summary for ANK1 Gene
ANK1 (Ankyrin 1) is a Protein Coding gene. Diseases associated with ANK1 include Spherocytosis, Type 1 and Hereditary Spherocytosis. Among its related pathways are L1CAM interactions and Developmental Biology. GO annotations related to this gene include enzyme binding and structural constituent of cytoskeleton. An important paralog of this gene is ANK3.
UniProtKB/Swiss-Prot for ANK1 Gene
-
Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, 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.
-
Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANK1 Gene
Genomics for ANK1 Gene
Regulatory Elements for ANK1 Gene
Enhancers for ANK1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ANK1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the ANK1 gene promoter:
Regulatory Element Products
Genomic Location for ANK1 Gene
- Chromosome:
- 8
- Start:
- 41,653,220 bp from pter
- End:
- 41,896,762 bp from pter
- Size:
- 243,543 bases
- Orientation:
- Minus strand
Genomic View for ANK1 Gene
Genes around ANK1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p11.21 by Ensembl
- 8p11.21 by Entrez Gene
- 8p11.21 by HGNC
ANK1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ANK1 Gene
Proteins for ANK1 Gene
-
Protein details for ANK1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P16157-ANK1_HUMAN
- Recommended name:
- Ankyrin-1
- Protein Accession:
- P16157
- A0PJN8
- A6NJ23
- E5RFL7
- O43400
- Q13768
- Q53ER1
- Q59FP2
- Q8N604
- Q99407
Protein attributes for ANK1 Gene
- Size:
- 1881 amino acids
- Molecular mass:
- 206265 Da
- Quaternary structure:
-
- 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.
- SequenceCaution:
-
- Sequence=AAB47805.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for ANK1 Gene
Protein Expression for ANK1 Gene
Post-translational modifications for ANK1 Gene
- 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 region.
- Palmitoylated.
- Regulated by phosphorylation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ANK1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_000028.3
- NP_001135917.1
- NP_001135918.1
- NP_065208.2
- NP_065209.2
- NP_065210.2
- NP_065211.2
- NP_065213.2
- XP_005273533.1
- XP_011542792.1
- XP_011542793.1
- XP_011542796.1
- XP_011542797.1
- XP_011542798.1
- XP_011542802.1
- XP_011542803.1
- XP_011542804.1
- XP_011542805.1
- XP_011542806.1
- XP_011542807.1
- XP_016868808.1
- XP_016868809.1
- XP_016868810.1
- XP_016868811.1
- XP_016868812.1
- XP_016868813.1
- XP_016868814.1
- XP_016868815.1
- XP_016868816.1
- XP_016868817.1
- XP_016868818.1
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for ANK1
- Novus Biologicals Antibodies for ANK1
-
Cloud-Clone Corp. Antibodies for ANK1
- Invitrogen Antibodies for ANK1
- antibodies-online Antibodies for ANK1: See all 47
- GeneTex ANK1 antibody for ANK1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ANK1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ANK1
- Origene Custom Protein Services for ANK1
-
Cloud-Clone Corp. Proteins for ANK1
- Search GeneTex for Proteins for ANK1
Assay Products
- antibodies-online Kits for ANK1: See all 3
No data available for DME Specific Peptides for ANK1 Gene
Domains & Families for ANK1 Gene
Gene Families for ANK1 Gene
Protein Domains for ANK1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ANK1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P16157UniProtKB/Swiss-Prot:
ANK1_HUMAN :- The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) and SLC4A1/erythrocyte membrane protein band 3.
- Domain:
-
- The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) and SLC4A1/erythrocyte membrane protein band 3.
- The ANK repeat region forms a spiral around a large central cavity and is involved in binding of ion transporters.
- The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrins function other than binding to spectrin (By similarity).
Function for ANK1 Gene
Molecular function for ANK1 Gene
- GENATLAS Biochemistry:
- ankyrin 1,206kDa,erythrocyte membrane protein,intermediate filament associated protein (IFAP,type III),also expressed in neural tissue and skeletal muscle
- UniProtKB/Swiss-Prot Function:
- Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, 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.
- UniProtKB/Swiss-Prot Function:
- Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005198 | structural molecule activity | NAS | 9430667 |
| GO:0005200 | structural constituent of cytoskeleton | TAS | 8640229 |
| GO:0005515 | protein binding | IPI | 379653 |
| GO:0008093 | cytoskeletal adaptor activity | IDA,TAS | 11427698 |
| GO:0019899 | enzyme binding | TAS | 11427698 |
Phenotypes for ANK1 Gene
- MGI mutant phenotypes for ANK1:
-
inferred from 8 alleles
- mortality/aging
- behavior/neurological phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- integument phenotype
- skeleton phenotype
- pigmentation phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- GenomeRNAi human phenotypes for ANK1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ANK1
-
- Search ViGene Biosciences for ANK1
CRISPR Products
-
OriGene CRISPR knockouts for ANK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANK1
- GenScript: Design CRISPR guide RNA sequences for ANK1
miRNA for ANK1 Gene
- miRTarBase miRNAs that target ANK1
-
- hsa-mir-513b-5p (MIRT484239)
- hsa-mir-597-5p (MIRT484240)
- hsa-mir-6747-5p (MIRT484241)
- hsa-mir-7110-5p (MIRT484242)
- hsa-mir-6842-5p (MIRT484243)
- hsa-mir-6752-5p (MIRT484244)
- hsa-mir-6851-5p (MIRT484245)
- hsa-mir-3689d (MIRT484246)
- hsa-mir-206 (MIRT484247)
- hsa-mir-613 (MIRT484248)
- hsa-mir-1-3p (MIRT484249)
- hsa-mir-125b-2-3p (MIRT484250)
- hsa-mir-4457 (MIRT484251)
- hsa-mir-4802-5p (MIRT484252)
- hsa-mir-6732-5p (MIRT484253)
- hsa-mir-4665-5p (MIRT490313)
- hsa-mir-1275 (MIRT490315)
- hsa-mir-663b (MIRT490316)
- hsa-mir-5010-5p (MIRT490317)
- hsa-mir-4525 (MIRT490318)
- hsa-mir-7111-5p (MIRT490319)
- hsa-mir-6870-5p (MIRT490320)
- hsa-mir-5698 (MIRT490321)
- hsa-mir-4723-5p (MIRT490322)
- hsa-mir-625-5p (MIRT490323)
- hsa-mir-7106-5p (MIRT490324)
- hsa-mir-6825-5p (MIRT490325)
- hsa-mir-874-5p (MIRT490326)
- hsa-mir-6894-5p (MIRT490327)
- hsa-mir-8082 (MIRT490328)
- hsa-mir-4534 (MIRT490329)
- hsa-mir-3605-5p (MIRT490330)
- hsa-mir-1204 (MIRT490331)
- hsa-mir-1247-3p (MIRT490332)
- hsa-mir-5587-3p (MIRT490333)
- hsa-mir-6840-5p (MIRT490334)
- hsa-mir-2392 (MIRT490335)
- hsa-mir-1273e (MIRT724147)
- hsa-mir-4709-3p (MIRT724148)
- hsa-mir-4684-5p (MIRT724149)
- hsa-mir-4635 (MIRT724150)
- hsa-mir-942-5p (MIRT724151)
- hsa-mir-877-3p (MIRT724152)
- hsa-mir-376c-3p (MIRT724153)
- hsa-mir-641 (MIRT724154)
- hsa-mir-3617-5p (MIRT724155)
miRNA Products
- Search ViGene Biosciences for ANK1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ANK1
- Browse OriGene Inhibitory RNA Products For ANK1
Clone Products
-
OriGene ORF clones in human for ANK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA ORF clone for ANK1 in any vector
- XM_011544506
- XM_011544505
- XM_011544504
- XM_011544503
- XM_011544502
- XM_011544501
- XM_011544500
- XM_011544499
- XM_011544498
- XM_011544497
- XM_011544496
- XM_011544495
- XM_011544494
- XM_011544493
- XM_011544492
- XM_011544491
- XM_011544490
- NM_000037
- NM_001142445
- NM_001142446
- NM_020475
- NM_020476
- NM_020477
- NM_020478
- NM_020480
- XM_005273476
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ANK1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANK1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ANK1
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ANK1 Gene
Localization for ANK1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ANK1 Gene
- Isoform Er1: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane.
- Isoform Mu17: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells.
- Isoform Mu18: Sarcoplasmic reticulum.
- Isoform Mu19: Sarcoplasmic reticulum.
- Isoform Mu20: Sarcoplasmic reticulum.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 4 |
| endoplasmic reticulum | 4 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | NAS | 1833445 |
| GO:0005886 | plasma membrane | NAS | 9430667 |
Pathways & Interactions for ANK1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport to the Golgi and subsequent modification | ||
| 2 | L1CAM interactions | ||
| 3 | Developmental Biology |
.51
|
|
| 4 | Vesicle-mediated transport | ||
| 5 | Metabolism of proteins | ||
Pathways by source for ANK1 Gene
15 Reactome pathways for ANK1 Gene
1 KEGG pathway for ANK1 Gene
1 Qiagen pathway for ANK1 Gene
Interacting Proteins for ANK1 Gene
Selected Interacting proteins:
ENSP00000265709
P16157-ANK1_HUMAN
for ANK1 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006887 | exocytosis | NAS | 1833445 |
| GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
| GO:0007010 | cytoskeleton organization | NAS | 9430667 |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0010638 | positive regulation of organelle organization | IEA | -- |
No data available for SIGNOR curated interactions for ANK1 Gene
Transcripts for ANK1 Gene
mRNA/cDNA for ANK1 Gene
- (33) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (127) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ANK1 Gene
- Ankyrin 1, erythrocytic:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for ANK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANK1
- GenScript: Design CRISPR guide RNA sequences for ANK1
miRNA Products
- Search ViGene Biosciences for ANK1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ANK1
- Browse OriGene Inhibitory RNA Products For ANK1
Clone Products
-
OriGene ORF clones in human for ANK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA ORF clone for ANK1 in any vector
- XM_011544506
- XM_011544505
- XM_011544504
- XM_011544503
- XM_011544502
- XM_011544501
- XM_011544500
- XM_011544499
- XM_011544498
- XM_011544497
- XM_011544496
- XM_011544495
- XM_011544494
- XM_011544493
- XM_011544492
- XM_011544491
- XM_011544490
- NM_000037
- NM_001142445
- NM_001142446
- NM_020475
- NM_020476
- NM_020477
- NM_020478
- NM_020480
- XM_005273476
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ANK1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANK1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| 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: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 45 | ^ | 46a | · | 46b | · | 46c | ^ | 47a | · | 47b | ^ | 48a | · | 48b | · | 48c | · | 48d | · | 48e |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||
| SP4: | - | - | |||||||||||||||||||
| SP5: | |||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||
| SP7: | |||||||||||||||||||||
| SP8: | - | - | - | - | |||||||||||||||||
| SP9: | |||||||||||||||||||||
| SP10: | |||||||||||||||||||||
| SP11: | - | - | - | ||||||||||||||||||
| SP12: | - | - | - | - | - |
Expression for ANK1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Erythroblasts Hematopoietic Bone Marrow
- Hematopoietic Bone Marrow
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Granulosa Cells Primary Follicle
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Bone (Muscoskeletal System)
-
Spleen (Hematopoietic System)
-
Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for ANK1 Gene
This gene is overexpressed in Muscle - Skeletal (x11.0), Brain - Cerebellar Hemisphere (x9.1), Brain - Cerebellum (x8.6), and Heart - Left Ventricle (x4.2).
This gene is overexpressed in Neutrophil (22.5) and Skin (10.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANK1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ANK1 Gene:
ANK1SOURCE GeneReport for Unigene cluster for ANK1 Gene:
Hs.654438mRNA Expression by UniProt/SwissProt for ANK1 Gene:
P16157-ANK1_HUMAN
Tissue specificity:
Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain.
Evidence on tissue expression from TISSUES for ANK1 Gene
- Blood(4.7)
- Muscle(4.7)
- Nervous system(4.6)
- Liver(4.3)
- Heart(2.4)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ANK1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- skeleton
Organs:
Head and neck:
- brain
- chin
- ear
- eye
- face
- head
- jaw
- mandible
- maxilla
- mouth
- outer ear
- pituitary gland
- skull
Abdomen:
- abdominal wall
- biliary tract
- gallbladder
- liver
- pancreas
- spleen
Pelvis:
- penis
- prostate
- testicle
- vas deferens
General:
- blood
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs for ANK1
Orthologs for ANK1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ANK1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ANK1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ANK1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Ank1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ank1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ANK1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ANK1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CHANK1 35 |
|
OneToOne | |
| ANK1 34 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | ANK1 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | ank1 35 |
|
OneToMany | |
| si:ch211-263m18.3 34 |
|
||||
| ANK1 (2 of 2) 35 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9373 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Ank2 36 35 |
|
||
| Ank 36 35 |
|
||||
| nompC 36 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | Y71A12B.4 36 |
|
|
|
| C29E6.2 36 |
|
|
|||
| unc-44 35 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for ANK1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for ANK1 Gene
Paralogs for ANK1 Gene
(23) SIMAP similar genes for ANK1 Gene using alignment to 5 proteins:
Variants for ANK1 Gene
| SNP ID | Clin | Chr 08 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs140085544 | Spherocytosis 1 (SPH1) [MIM:182900] | 41,716,970(+) | ATTGA(C/T)TTTGG | reference, missense | |
| VAR_035605 | A breast cancer sample | ||||
| VAR_054991 | Spherocytosis 1 (SPH1) [MIM:182900] | ||||
| VAR_054992 | Spherocytosis 1 (SPH1) [MIM:182900] | ||||
| rs137852829 | Pathogenic | 41,672,445(-) | AGAAT(G/T)AAGTG | intron-variant, reference, stop-gained |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2071e212 | CNV | loss | 25503493 |
| esv2676408 | CNV | deletion | 23128226 |
| esv2736933 | CNV | deletion | 23290073 |
| esv3113727 | CNV | deletion | 24192839 |
| esv3572713 | CNV | loss | 25503493 |
| esv3576565 | CNV | gain | 25503493 |
| esv3616991 | CNV | loss | 21293372 |
| esv3616992 | CNV | loss | 21293372 |
| esv3616993 | CNV | loss | 21293372 |
| nsv1112961 | CNV | deletion | 24896259 |
| nsv1132142 | CNV | deletion | 24896259 |
| nsv1144227 | CNV | deletion | 24896259 |
| nsv474166 | CNV | novel sequence insertion | 20440878 |
| nsv480661 | CNV | novel sequence insertion | 20440878 |
| nsv611130 | CNV | loss | 21841781 |
| nsv818620 | CNV | loss | 17921354 |
| nsv824614 | CNV | loss | 20364138 |
| nsv831299 | CNV | loss | 17160897 |
| nsv831300 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
1.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.09;
75.42% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ANK1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANK1 Gene
Disorders for ANK1 Gene
(10) MalaCards diseases for ANK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spherocytosis, type 1 |
|
|
| hereditary spherocytosis |
|
|
| ank1-related spherocytosis |
|
|
| 8p11.2 deletion syndrome |
|
|
| hereditary elliptocytosis |
|
|
Search ANK1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ANK1_HUMAN- Spherocytosis 1 (SPH1) [MIM:182900]: A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder. {ECO:0000269 PubMed:11102985, ECO:0000269 PubMed:8640229}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for ANK1
No data available for Genatlas for ANK1 Gene
Publications for ANK1 Gene
- cDNA sequence for human erythrocyte ankyrin. (PMID: 1689849) Lambert S. … Palek J. (Proc. Natl. Acad. Sci. U.S.A. 1990) 2 3 4 22 64
- [Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis]. (PMID: 17128827) Camacho-Torres A.L. … Perea-DA-az F.J. (Gac Med Mex 2006) 3 22 46 64
- An alternate promoter directs expression of a truncated, muscle- specific isoform of the human ankyrin 1 gene. (PMID: 9430667) Gallagher P.G. … Forget B.G. (J. Biol. Chem. 1998) 3 4 22 64
- Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing. (PMID: 9235914) Gallagher P.G. … Forget B.G. (J. Biol. Chem. 1997) 3 4 22 64
- Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. (PMID: 8640229) Eber S.W. … Lux S.E. (Nat. Genet. 1996) 3 4 22 64
Products for ANK1 Gene
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- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ANK1
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- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ANK1
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- NM_000037
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- GenScript Custom Purified and Recombinant Proteins Services for ANK1
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- GenScript: Design CRISPR guide RNA sequences for ANK1
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- CloneReady with Over 120,000 Genes
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- Gene Mutant Library, Variants up to 10^11
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- Browse Sino Biological cDNA Clones
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- Sino Biological Antibodies
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- Sino Biological Cell Lysates
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- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for ANK1
- Novus Biologicals proteins and lysates for ANK1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for ANK1
- Cloud-Clone Corp. Proteins for ANK1
- Browse Assay Kits at Cloud-Clone Corp.
- antibodies-online Antibodies for ANK1: See all 47
- antibodies-online Kits for ANK1: See all 3
- Search antibodies-online for proteins
- Search antibodies-online for peptides
- GeneTex ANK1 antibody for ANK1
- Search GeneTex for Proteins for ANK1
- Search ViGene Biosciences for ANK1
- Santa Cruz Biotechnology (SCBT) Antibodies for ANK1
- Search Santa Cruz Biotechnology (SCBT) for ANK1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ANK1
- Horizon Cell Lines for ANK1
- Cyagen custom Knockout/knockin (KOKI) mouse models for ANK1
- VectorBuilder custom plasmid, inducible vectors for ANK1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANK1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ANK1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer