ANKFY1 Gene
protein-coding GIFtS: 51
GCID: GC17M004013
|
|
ankyrin repeat and FYVE domain containing 1
| |
Aliases
for ANKFY1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ankyrin Repeat And FYVE Domain Containing 11 2 | | Ankyrin Repeats Hooked To A Zinc Finger Motif2 3 | | ANKHZN1 2 3 | | Rabankyrin-52 | | BTBD231 2 | | Ankyrin Repeat And FYVE Domain-Containing Protein 12 | | ZFYVE141 2 | | Ankyrin Repeat Hooked To Zinc Finger Motif2 | | KIAA12551 3 | | |
Export aliases for ANKFY1 gene to outside databasesPrevious GC identifers: GC17M004410 GC17M004019 GC17M004273 |
Summaries
for ANKFY1 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 ANKFY1:
This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus,ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroupof double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results inmultiple transcript variants of this gene. (provided by RefSeq, Apr 2012)
Gene Wiki entry for ANKFY1
|
Genomic Views
for ANKFY1 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_000017.10 NC_018928.1 NT_010718.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ANKFY1 gene promoter:
AhR HOXA3 AP-1 p53 Arnt Evi-1 E2F E2F-1 HFH-1 Sox9
Other transcription factors
Search SABiosciences Chromatin IP Primers for ANKFY1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKFY1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p13.3 Ensembl cytogenetic band: 17p13.2 HGNC cytogenetic band: 17p13.3ANKFY1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M004013: view genomic region
(about GC identifiers)
Start:
|
4,066,665 bp from pter |
End:
|
4,167,274 bp from pter |
Size:
|
100,610 bases |
Orientation:
|
minus strand |
|
Proteins
for ANKFY1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ANFY1_HUMAN, Q9P2R3 (See
protein sequence)Recommended Name: Ankyrin repeat and FYVE domain-containing protein 1 Size: 1169 amino acids; 128399 Da
Subcellular location: Cytoplasm. Endosome membrane; Peripheral membrane protein. Note=Also associated with endosomalmembranes
Sequence caution: Sequence=AAH52308.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAA86569.2;Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8KA65 Q5RKV4 Q9ULG5Alternative splicing: 3 isoforms: Q9P2R3-1 Q9P2R3-2 Q9P2R3-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ANKFY1: NX_Q9P2R3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9P2R3
ANKFY1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001244928.1 NP_057460.3
ENSEMBL proteins: ENSP00000343362 ENSP00000459943 ENSP00000459561 ENSP00000459775 ENSP00000460619 ENSP00000467522 ENSP00000459247 ENSP00000416005
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0010008 | endosome membrane |
ISS | -- | | GO:0043231 | intracellular membrane-bounded organelle |
IDA | -- |
ANKFY1 for ontologies About GeneDecksing
ANKFY1 Antibody Products:
Assay Products for ANKFY1: |
Protein
Domains /
Families
for ANKFY1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ANKFY1 for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry Q9P2R3ProtoNet protein and cluster: Q9P2R3 3 Blocks protein families: IPB000210 BTB/POZ domain IPB000306 Zn-finger IPB002110 Ankyrin repeat signature
UniProtKB/Swiss-Prot: ANFY1_HUMAN, Q9P2R3Similarity: Contains 21 ANK repeatsSimilarity: Contains 1 BTB (POZ) domainSimilarity: Contains 1 FYVE-type zinc finger |
Function
for ANKFY1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
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 ANKFY1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ANKFY1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKFY1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IPI | -- | | GO:0046872 | metal ion binding |
IEA | -- |
ANKFY1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for ANKFY1:
|
Pathways & Interactions
for ANKFY1 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 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ANKFY1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 10)
5/22 Interacting proteins for ANKFY1 (Q9P2R31, 3 ENSP000003433624) via UniProtKB, MINT, STRING, and/or I2D (see all 22)About this table
|
Drugs & Compounds
for ANKFY1 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
|
 Browse Tocris compounds for ANKFY1
Search CenterWatch for drugs/clinical trials and news about ANKFY1 / ANFY1
|
Transcripts
for ANKFY1 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 ANKFY1 gene (3 alternative transcripts): NM_001257999.1 NM_016376.3 NM_020740.2 Unigene Cluster for ANKFY1: Ankyrin repeat and FYVE domain containing 1 Hs.696087 [show with all ESTs]Unigene Representative Sequence: CR93371715 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000341657(uc002fxn.3 uc002fxo.3 uc002fxp.3 uc010ckp.3 uc002fxq.1)
ENST00000570535 ENST00000572310 ENST00000574367 ENST00000572412 ENST00000575298
ENST00000572564 ENST00000571547 ENST00000574736 ENST00000573722 ENST00000575509
ENST00000570934 ENST00000573250 ENST00000575955(uc010vrz.2) ENST00000433651(uc002fxr.3)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ANKFY1 (see all 2)
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Additional cDNA sequence: AB033081.2 AB073897.1 AK025483.1 AK025717.1 AK025960.1 AK057047.1 AK074324.1 AK094320.1 AK225170.1 AK292930.1 AK302712.1 BC052308.1 BC060812.1 CR933717.1 NR_047571.1 19 DOTS entries: DT.91763362 DT.444923 DT.91998076 DT.95178028 DT.100793517 DT.99969865 DT.100793508 DT.95211362 DT.99927551 DT.100014176 DT.120970252 DT.75127037 DT.97763345 DT.120970259 DT.201586 DT.92049922 DT.95162439 DT.75100663 DT.97765949 24/226 AceView cDNA sequences (see all 226): AK025483 NM_016376 AB033081 CB160128 AI423079 BF437578 AW207589 AK057047 BM128581 BC060812 AW510893 AI637804 AW731756 AI298087 BP379396 CA425590 AW271660 AI094328 CB529526 BP363896 AW450283 BI789249 BQ438808 CA774507
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ANKFY1 (see all 8) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | - | | | | - | | | | | | | | | | | | | | | | - | | | | |
| SP2: | | | | | | | - | | - | | | | | | - | | | | | | | | | | | | | | - | | | | - | | | | | | | | | | | | | | | | - | | | | |
| SP3: | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | - | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | |
| ExUns: | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | |
| SP5: | - | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ANKFY1
|
Expression
for ANKFY1 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
| ANKFY1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACAGACACTT
About this image
See ANKFY1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ANKFY1
SOURCE GeneReport for Unigene cluster: Hs.696087
UniProtKB/Swiss-Prot: ANFY1_HUMAN, Q9P2R3Tissue specificity: High expression in whole adult brain and intermediate expression in all other tissues and specificbrain regions examined, including fetal brain
SABiosciences Custom PCR Arrays for ANKFY1
Primer
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Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKFY1 |
Orthologs
for ANKFY1 gene
(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 ANKFY1 gene from 7/23 species (see all 23) About this table
ENSEMBL Gene Tree for ANKFY1 (if available)
TreeFam Gene Tree for ANKFY1 (if available) |
Paralogs
for ANKFY1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ANKFY1 gene
- TRPA12
6 SIMAP similar genes for ANKFY1 using alignment to 5 protein entries: ANFY1_HUMAN (see all proteins):DKFZp686M19106 ANKRD46 ANKRD44 ANKRD6 GABPB1 OSBPL1A
ANKFY1 for paralogs About GeneDecksing
|
Genomic Variants
for ANKFY1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ANKFY1 (4066665 - 4167274 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for ANKFY1
4 CNVs: 102390 49860 8834 72778
1 Indel: 25852 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANKFY1 |
|
Disorders
/ Diseases
for ANKFY1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ANKFY1 for disorders About GeneDecksing
OMIM gene information: 607927
OMIM disorders: --
4  diseases for ANKFY1: About MalaCardsspastic ataxia spasticity ataxia malaria
Export disorders for ANKFY1 gene to outside databases
|
Publications
for ANKFY1 gene (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 ANKFY1 gene, integrated from 9 sources (see all 25):
(articles sorted by number of sources associating them with ANKFY1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization and chromosomal mapping of a novel human gene, ANKHZN. (PubMed id 10940552)1, 2, 3 Kuriyama H.... Kuwano R. (2000)
- A novel locus for autosomal recessive spastic ataxia on chromosome 17p. (PubMed id 17273843)1, 3 Bouslam N....Stevanin G. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
- Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
- Targeted ubiquitination and degradation of G-protein-c oupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (2012)
- Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
- Rabankyrin-5 interacts with EHD1 and Vps26 to regulate endocytic trafficking and retromer function. (PubMed id 22284051)1 Zhang J....Caplan S. (2012)
- 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)
- A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
|
External Searches for ANKFY1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ANKFY1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ANKFY1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing ANKFY1 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
|
| Name | Description |
| PharmGKB entry for ANKFY1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ANKFY1 gene:
Search GeneIP for patents involving ANKFY1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ANKFY1 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
|
 | |
 | |
 |
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