Aliases for ANKRD54 Gene
Aliases for ANKRD54 Gene
External Ids for ANKRD54 Gene
- HGNC: 25185
- Entrez Gene: 129138
- Ensembl: ENSG00000100124
- OMIM: 613383
- UniProtKB: Q6NXT1
Previous GeneCards Identifiers for ANKRD54 Gene
- GC22M036556
- GC22M038226
- GC22M021193
- GC22M038388
- GC22M038510
- GC22M038821
- GC22M039958
- GC22M040650
- GC22M041098
- GC22M041500
- GC22M041911
Summaries for ANKRD54 Gene
GeneCards Summary for ANKRD54 Gene
ANKRD54 (Ankyrin Repeat Domain 54) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein kinase regulator activity. An important paralog of this gene is ANKRD1.
UniProtKB/Swiss-Prot for ANKRD54 Gene
-
Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.
Additional gene information for ANKRD54 Gene
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD54 Gene
Genomics for ANKRD54 Gene
GeneHancer (GH) Regulatory Elements for ANKRD54 Gene
Promoters and enhancers for ANKRD54 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around ANKRD54 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ANKRD54 gene promoter:
-
- NF-YC
- Pax-5
- CBF(2)
- CBF-A
- CBF-B
- CBF-C
- CP1A
- CP1C
- NF-Y
- NF-YA
Regulatory Element Products
Genomic Locations for ANKRD54 Gene
Genomic Locations for ANKRD54 Gene
- chr22:37,830,854-37,849,327
- (GRCh38/hg38)
- Size:
- 18,474 bases
- Orientation:
- Minus strand
- chr22:38,226,862-38,245,334
- (GRCh37/hg19)
- Size:
- 18,473 bases
- Orientation:
- Minus strand
Genomic View for ANKRD54 Gene
Genes around ANKRD54 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.1 by Entrez Gene
- 22q13.1 by HGNC
- 22q13.1 by Ensembl
ANKRD54 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 ANKRD54 Gene
Proteins for ANKRD54 Gene
-
Protein details for ANKRD54 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6NXT1-ANR54_HUMAN
- Recommended name:
- Ankyrin repeat domain-containing protein 54
- Protein Accession:
- Q6NXT1
- Q6ZSB1
- Q9UGV1
Protein attributes for ANKRD54 Gene
- Size:
- 300 amino acids
- Molecular mass:
- 32505 Da
- Quaternary structure:
-
- Interacts (via ankyrin repeat region) with LYN (via SH3-domain) in an activation-independent status of LYN. Forms a multiprotein complex with LYN and HCLS1. Interacts with TSN2, VAV1, DBNL AND LASP1.
Protein Expression for ANKRD54 Gene
Post-translational modifications for ANKRD54 Gene
Other Protein References for ANKRD54 Gene
Antibody Products
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-
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Protein Products
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-
Abcam proteins for ANKRD54
Assay Products
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No data available for DME Specific Peptides for ANKRD54 Gene
Domains & Families for ANKRD54 Gene
Gene Families for ANKRD54 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for ANKRD54 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ANKRD54 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ANKRD54 Gene
Function for ANKRD54 Gene
Molecular function for ANKRD54 Gene
- UniProtKB/Swiss-Prot Function:
- Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.
Phenotypes From GWAS Catalog for ANKRD54 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0019887 | protein kinase regulator activity | IEA | -- |
| GO:0044877 | protein-containing complex binding | IEA | -- |
Phenotypes for ANKRD54 Gene
- GenomeRNAi human phenotypes for ANKRD54:
Animal Model Products
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-
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miRNA for ANKRD54 Gene
- miRTarBase miRNAs that target ANKRD54
miRNA Products
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Clone Products
- Sino Biological Human cDNA Clone for ANKRD54
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- Applied Biological Materials Clones for ANKRD54
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ANKRD54
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD54 Gene
Localization for ANKRD54 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ANKRD54 Gene
- Nucleus. Cytoplasm. Midbody. Note=Shuttles between nucleus and cytoplasm during the cell cycle. EPO stimulation induces nuclear accumulation (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 1 |
- Microtubules (2)
- Midbody (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | ISS | -- |
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0030496 | midbody | ISS | -- |
Pathways & Interactions for ANKRD54 Gene
No Data Available
Interacting Proteins for ANKRD54 Gene
Selected Interacting proteins:
Q6NXT1-ANR54_HUMAN
ENSP00000215941
for ANKRD54 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ANKRD54
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006913 | nucleocytoplasmic transport | IEA | -- |
| GO:0045648 | positive regulation of erythrocyte differentiation | ISS,IEA | -- |
| GO:0045859 | regulation of protein kinase activity | IEA | -- |
| GO:1902531 | regulation of intracellular signal transduction | IEA,ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for ANKRD54 Gene
Transcripts for ANKRD54 Gene
mRNA/cDNA for ANKRD54 Gene
- (8) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (236) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000215941 2184 bps (uc003auc.4)
- ENST00000498417 2403 bps (uc062ean.1)
- ENST00000406423 954 bps (uc062eao.1)
- ENST00000609454 825 bps (uc062eap.1)
- ENST00000411961 946 bps (uc062eaq.1)
Unigene Clusters for ANKRD54 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ANKRD54
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKRD54
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for ANKRD54
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- Applied Biological Materials Clones for ANKRD54
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | · | 10d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||
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| SP4: | - | ||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||
| SP8: | - | - | - | - | |||||||||||||||||||||||||||||
| SP9: |
Expression for ANKRD54 Gene
This gene is overexpressed in Adrenal (40.4) and Bone (8.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD54 Gene
NURSA nuclear receptor signaling pathways regulating expression of ANKRD54 Gene:
ANKRD54SOURCE GeneReport for Unigene cluster for ANKRD54 Gene:
Hs.135259Evidence on tissue expression from TISSUES for ANKRD54 Gene
- Nervous system(4.5)
- Liver(4.2)
Primer Products
-
OriGene qPCR primer pairs for ANKRD54
-
OriGene qPCR primer pairs and template standards for ANKRD54
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Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD54 Gene
Orthologs for ANKRD54 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ANKRD54 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ANKRD54 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ANKRD54 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ankrd54 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ankrd54 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ANKRD54 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ANKRD54 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ANKRD54 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ankrd54 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4216 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ankrd54 34 33 |
|
OneToOne | |
| wufi33d09 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10527 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG10809 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NAS6 34 |
|
OneToMany |
- Species where no ortholog for ANKRD54 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for ANKRD54 Gene
- ENSEMBL:
- Gene Tree for ANKRD54 (if available)
- TreeFam:
- Gene Tree for ANKRD54 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ANKRD54: view image
Paralogs for ANKRD54 Gene
(38) SIMAP similar genes for ANKRD54 Gene using alignment to 9 proteins:
- ANR54_HUMAN
- B5MCX7_HUMAN
- C9JU48_HUMAN
- C9JX82_HUMAN
- D3YTC9_HUMAN
- F8WB76_HUMAN
- H7BZV9_HUMAN
- H7C3L3_HUMAN
- V9GYU2_HUMAN
Pseudogenes.org Pseudogenes for ANKRD54 Gene
Variants for ANKRD54 Gene
| SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000087606 | -- | 37,839,400(-) | T/G | intron_variant | |
| rs1000220719 | -- | 37,841,892(-) | T/TT | intron_variant | |
| rs1000251975 | -- | 37,844,949(-) | G/T | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000372282 | -- | 37,838,960(-) | CCC/CCCC | intron_variant | |
| rs1000380440 | -- | 37,844,546(-) | G/C | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2666189 | CNV | deletion | 23128226 |
| esv2758838 | CNV | loss | 17122850 |
| esv3647720 | CNV | loss | 21293372 |
| esv3893482 | CNV | gain | 25118596 |
| nsv966109 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.78;
16.48% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ANKRD54 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ANKRD54
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD54 Gene
Disorders for ANKRD54 Gene
Additional Disease Information for ANKRD54
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for ANKRD54 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD54 Gene
Publications for ANKRD54 Gene
- A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 2 3 4 58
- Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54). (PMID: 22527282) Gustafsson MO … Nore BF (Molecular and cellular biology 2012) 2 3 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 58
Products for ANKRD54 Gene
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Sources for ANKRD54 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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
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