ANKFY1 (ankyrin repeat and FYVE domain containing 1) - Rat Genome Database
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Gene: ANKFY1 (ankyrin repeat and FYVE domain containing 1) Homo sapiens
Analyze
Symbol: ANKFY1
Name: ankyrin repeat and FYVE domain containing 1
RGD ID: 1320021
HGNC Page HGNC
Description: Exhibits phosphatidylinositol phosphate binding activity and small GTPase binding activity. Involved in cytosolic transport; endosomal vesicle fusion; and positive regulation of pinocytosis. Localizes to endosome; intracellular membrane-bounded organelle; and membrane. Colocalizes with retromer complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ANKHZN; ankyrin repeat and FYVE domain-containing protein 1; ankyrin repeat hooked to zinc finger motif; ankyrin repeats hooked to a zinc finger motif; BTBD23; DKFZp686M19106; KIAA1255; Rabankyrin-5; rank-5; ZFYVE14
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl174,163,821 - 4,263,995 (-)EnsemblGRCh38hg38GRCh38
GRCh38174,163,820 - 4,263,979 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37174,067,115 - 4,167,274 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,013,414 - 4,114,023 (-)NCBINCBI36hg18NCBI36
Celera174,078,241 - 4,178,752 (-)NCBI
Cytogenetic Map17p13.2NCBI
HuRef173,956,187 - 4,056,210 (-)NCBIHuRef
CHM1_1174,075,451 - 4,176,034 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8125298   PMID:10092534   PMID:10574462   PMID:10940552   PMID:12168954   PMID:12477932   PMID:14702039   PMID:15328530   PMID:16344560   PMID:17273843   PMID:17897319   PMID:18029348  
PMID:18570454   PMID:18976975   PMID:19056867   PMID:19615732   PMID:20562859   PMID:21145461   PMID:21628590   PMID:22284051   PMID:22863883   PMID:22952844   PMID:23184937   PMID:23414517  
PMID:24039173   PMID:24102721   PMID:24457600   PMID:25798074   PMID:25921289   PMID:26167880   PMID:26186194   PMID:26496610   PMID:26972000   PMID:27189942   PMID:27591049   PMID:28514442  
PMID:28581483   PMID:28596240   PMID:28685749   PMID:29038302   PMID:29467282   PMID:29507755   PMID:29863498   PMID:30209976   PMID:30224337   PMID:30471916   PMID:30948266   PMID:31006538  
PMID:31091453   PMID:32203420   PMID:33092793  


Genomics

Comparative Map Data
ANKFY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl174,163,821 - 4,263,995 (-)EnsemblGRCh38hg38GRCh38
GRCh38174,163,820 - 4,263,979 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37174,067,115 - 4,167,274 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,013,414 - 4,114,023 (-)NCBINCBI36hg18NCBI36
Celera174,078,241 - 4,178,752 (-)NCBI
Cytogenetic Map17p13.2NCBI
HuRef173,956,187 - 4,056,210 (-)NCBIHuRef
CHM1_1174,075,451 - 4,176,034 (-)NCBICHM1_1
Ankfy1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391172,580,828 - 72,662,972 (+)NCBIGRCm39mm39
GRCm39 Ensembl1172,580,832 - 72,662,972 (+)Ensembl
GRCm381172,690,002 - 72,772,146 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1172,690,006 - 72,772,146 (+)EnsemblGRCm38mm10GRCm38
MGSCv371172,503,504 - 72,585,648 (+)NCBIGRCm37mm9NCBIm37
MGSCv361172,506,197 - 72,588,341 (+)NCBImm8
Celera1180,215,482 - 80,300,299 (+)NCBICelera
Cytogenetic Map11B4NCBI
Ankfy1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21057,312,246 - 57,383,964 (+)NCBI
Rnor_6.0 Ensembl1059,259,955 - 59,331,669 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01059,259,955 - 59,331,669 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01058,997,865 - 59,069,490 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41059,582,425 - 59,654,290 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11059,596,108 - 59,665,081 (+)NCBI
Celera1056,435,792 - 56,509,309 (+)NCBICelera
Cytogenetic Map10q24NCBI
Ankfy1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546712,644,098 - 12,730,711 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546712,644,070 - 12,734,546 (+)NCBIChiLan1.0ChiLan1.0
ANKFY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1174,209,243 - 4,307,339 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl174,209,250 - 4,307,328 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0174,217,880 - 4,316,017 (-)NCBIMhudiblu_PPA_v0panPan3
ANKFY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1530,246,440 - 30,328,618 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl530,249,280 - 30,328,962 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha530,442,275 - 30,524,309 (-)NCBI
ROS_Cfam_1.0530,346,869 - 30,428,697 (-)NCBI
UMICH_Zoey_3.1530,312,894 - 30,395,194 (-)NCBI
UNSW_CanFamBas_1.0530,271,279 - 30,353,556 (-)NCBI
UU_Cfam_GSD_1.0530,444,643 - 30,526,954 (-)NCBI
Ankfy1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440560255,064,503 - 55,154,569 (+)NCBI
SpeTri2.0NW_004936677746,408 - 836,495 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKFY1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1250,167,957 - 50,348,689 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11250,167,959 - 50,251,861 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21252,123,883 - 52,181,151 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ANKFY1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1163,640,550 - 3,737,390 (-)NCBI
ChlSab1.1 Ensembl163,644,499 - 3,737,346 (-)Ensembl
Ankfy1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247866,759,169 - 6,856,241 (-)NCBI

Position Markers
SHGC-36655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,067,131 - 4,067,255UniSTSGRCh37
Build 36174,013,880 - 4,014,004RGDNCBI36
Celera174,078,707 - 4,078,831RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,956,653 - 3,956,777UniSTS
GeneMap99-G3 RH Map17242.0UniSTS
WI-12317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373133,876,451 - 133,876,575UniSTSGRCh37
GRCh37174,127,755 - 4,127,879UniSTSGRCh37
Build 363135,359,141 - 135,359,265RGDNCBI36
Celera3132,299,732 - 132,299,856RGD
Celera174,139,324 - 4,139,448UniSTS
Cytogenetic Map3q22UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
HuRef174,016,706 - 4,016,830UniSTS
HuRef3131,254,367 - 131,254,491UniSTS
GeneMap99-GB4 RH Map3486.24UniSTS
Whitehead-RH Map3579.7UniSTS
NCBI RH Map31163.1UniSTS
RH103073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,069,559 - 4,069,740UniSTSGRCh37
Build 36174,016,308 - 4,016,489RGDNCBI36
Celera174,081,135 - 4,081,316RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,959,081 - 3,959,262UniSTS
GeneMap99-GB4 RH Map1739.58UniSTS
SHGC-85035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,097,721 - 4,097,823UniSTSGRCh37
Build 36174,044,470 - 4,044,572RGDNCBI36
Celera174,109,295 - 4,109,398RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,986,556 - 3,986,659UniSTS
TNG Radiation Hybrid Map171542.0UniSTS
RH118775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,082,008 - 4,082,302UniSTSGRCh37
Build 36174,028,757 - 4,029,051RGDNCBI36
Celera174,093,583 - 4,093,877RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,971,502 - 3,971,796UniSTS
TNG Radiation Hybrid Map171538.0UniSTS
D14S567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373133,876,601 - 133,876,916UniSTSGRCh37
GRCh37174,127,187 - 4,127,499UniSTSGRCh37
Build 363135,359,291 - 135,359,606RGDNCBI36
Celera3132,299,882 - 132,300,197RGD
Celera174,138,757 - 4,139,069UniSTS
Cytogenetic Map3q22UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef174,016,139 - 4,016,451UniSTS
HuRef3131,254,517 - 131,254,832UniSTS
G54294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,070,120 - 4,070,230UniSTSGRCh37
Celera174,081,696 - 4,081,806UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef173,959,642 - 3,959,752UniSTS
G54313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,081,447 - 4,081,551UniSTSGRCh37
Celera174,093,022 - 4,093,126UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef173,970,941 - 3,971,045UniSTS
G54287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,133,172 - 4,133,260UniSTSGRCh37
Celera174,144,741 - 4,144,829UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef174,022,125 - 4,022,213UniSTS
G54297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,149,643 - 4,149,856UniSTSGRCh37
Celera174,161,200 - 4,161,413UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef174,038,578 - 4,038,791UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6382
Count of miRNA genes:1439
Interacting mature miRNAs:1937
Transcripts:ENST00000341657, ENST00000433651, ENST00000570535, ENST00000570934, ENST00000571547, ENST00000572412, ENST00000572564, ENST00000573250, ENST00000573722, ENST00000574367, ENST00000574736, ENST00000575298, ENST00000575509, ENST00000575955
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2266 1547 1299 221 1098 76 3797 1257 2671 215 1323 1563 161 1 1156 2256 4 1
Low 173 1441 426 402 849 388 559 940 1063 204 136 50 14 48 532 2 1
Below cutoff 3 1 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001257999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA897044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB033081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB073897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL706226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA856905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000341657   ⟹   ENSP00000343362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,163,821 - 4,263,979 (-)Ensembl
RefSeq Acc Id: ENST00000570535   ⟹   ENSP00000459943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,165,074 - 4,263,847 (-)Ensembl
RefSeq Acc Id: ENST00000570934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,194,461 - 4,242,450 (-)Ensembl
RefSeq Acc Id: ENST00000571547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,181,026 - 4,182,298 (-)Ensembl
RefSeq Acc Id: ENST00000572412   ⟹   ENSP00000460619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,167,836 - 4,263,956 (-)Ensembl
RefSeq Acc Id: ENST00000572564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,177,882 - 4,180,436 (-)Ensembl
RefSeq Acc Id: ENST00000573250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,195,455 - 4,208,132 (-)Ensembl
RefSeq Acc Id: ENST00000573722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,184,864 - 4,191,335 (-)Ensembl
RefSeq Acc Id: ENST00000574367   ⟹   ENSP00000459775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,166,274 - 4,263,956 (-)Ensembl
RefSeq Acc Id: ENST00000574736   ⟹   ENSP00000459247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,183,526 - 4,187,109 (-)Ensembl
RefSeq Acc Id: ENST00000575298   ⟹   ENSP00000467522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,168,151 - 4,170,861 (-)Ensembl
RefSeq Acc Id: ENST00000575509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,186,460 - 4,188,869 (-)Ensembl
RefSeq Acc Id: ENST00000575955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,216,517 - 4,263,965 (-)Ensembl
RefSeq Acc Id: ENST00000648043   ⟹   ENSP00000497187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl174,163,957 - 4,263,995 (-)Ensembl
RefSeq Acc Id: NM_001257999   ⟹   NP_001244928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,163,821 - 4,263,847 (-)NCBI
GRCh37174,066,665 - 4,167,274 (-)NCBI
HuRef173,956,187 - 4,056,210 (-)NCBI
CHM1_1174,075,451 - 4,175,902 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330063   ⟹   NP_001316992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,163,821 - 4,263,979 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016376   ⟹   NP_057460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,163,821 - 4,263,979 (-)NCBI
GRCh37174,066,665 - 4,167,274 (-)RGD
Build 36174,013,414 - 4,114,023 (-)NCBI Archive
Celera174,078,241 - 4,178,752 (-)RGD
HuRef173,956,187 - 4,056,210 (-)RGD
CHM1_1174,075,451 - 4,176,034 (-)NCBI
Sequence:
RefSeq Acc Id: NR_047571
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,163,821 - 4,263,979 (-)NCBI
GRCh37174,066,665 - 4,167,274 (-)NCBI
HuRef173,956,187 - 4,056,210 (-)NCBI
CHM1_1174,075,451 - 4,176,034 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523926   ⟹   XP_011522228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,163,820 - 4,263,745 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523928   ⟹   XP_011522230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,163,820 - 4,249,222 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523933   ⟹   XP_011522235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,163,820 - 4,209,932 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024733   ⟹   XP_016880222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,163,820 - 4,263,857 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450791   ⟹   XP_024306559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,163,820 - 4,263,954 (-)NCBI
Sequence:
RefSeq Acc Id: XR_934043
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,181,290 - 4,263,745 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057460   ⟸   NM_016376
- Peptide Label: isoform 1
- UniProtKB: Q9P2R3 (UniProtKB/Swiss-Prot),   B3KPZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244928   ⟸   NM_001257999
- Peptide Label: isoform 3
- UniProtKB: Q9P2R3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011522228   ⟸   XM_011523926
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011522230   ⟸   XM_011523928
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011522235   ⟸   XM_011523933
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016880222   ⟸   XM_017024733
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001316992   ⟸   NM_001330063
- Peptide Label: isoform 4
- UniProtKB: Q9P2R3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024306559   ⟸   XM_024450791
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000497187   ⟸   ENST00000648043
RefSeq Acc Id: ENSP00000459943   ⟸   ENST00000570535
RefSeq Acc Id: ENSP00000460619   ⟸   ENST00000572412
RefSeq Acc Id: ENSP00000459247   ⟸   ENST00000574736
RefSeq Acc Id: ENSP00000459775   ⟸   ENST00000574367
RefSeq Acc Id: ENSP00000467522   ⟸   ENST00000575298
RefSeq Acc Id: ENSP00000343362   ⟸   ENST00000341657
Protein Domains
ANK_REP_REGION   BTB   FYVE-type

Promoters
RGD ID:6793951
Promoter ID:HG_KWN:24723
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_016376,   NM_020740,   UC002FXN.1,   UC002FXP.1,   UC002FXQ.1,   UC010CKP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36174,113,794 - 4,114,294 (-)MPROMDB
RGD ID:7233403
Promoter ID:EPDNEW_H22446
Type:initiation region
Name:ANKFY1_1
Description:ankyrin repeat and FYVE domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,263,956 - 4,264,016EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.2(chr17:4141725-4472701)x3 copy number gain See cases [RCV000053974] Chr17:4141725..4472701 [GRCh38]
Chr17:4045019..4375996 [GRCh37]
Chr17:3991768..4322745 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.2(chr17:4141725-4841701)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054003]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054003]|See cases [RCV000054003] Chr17:4141725..4841701 [GRCh38]
Chr17:4045019..4744996 [GRCh37]
Chr17:3991768..4691654 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.2(chr17:4201600-4574195)x3 copy number gain See cases [RCV000054004] Chr17:4201600..4574195 [GRCh38]
Chr17:4104895..4477490 [GRCh37]
Chr17:4051644..4424239 [NCBI36]
Chr17:17p13.2		 uncertain significance
NM_016376.3(ANKFY1):c.1734C>T (p.Ile578=) single nucleotide variant Malignant melanoma [RCV000063230] Chr17:4183876 [GRCh38]
Chr17:4087171 [GRCh37]
Chr17:4033920 [NCBI36]
Chr17:17p13.2		 not provided
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.2(chr17:4087381-4265640)x3 copy number gain See cases [RCV000133762] Chr17:4087381..4265640 [GRCh38]
Chr17:3990675..4168935 [GRCh37]
Chr17:3937424..4115684 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2(chr17:4217106-4538953)x3 copy number gain See cases [RCV000135383] Chr17:4217106..4538953 [GRCh38]
Chr17:4120401..4442248 [GRCh37]
Chr17:4067150..4388997 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2(chr17:4044302-4616762)x3 copy number gain See cases [RCV000134891] Chr17:4044302..4616762 [GRCh38]
Chr17:3947596..4520057 [GRCh37]
Chr17:3894345..4466806 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 copy number loss See cases [RCV000135548] Chr17:4044302..5943772 [GRCh38]
Chr17:3947596..5847092 [GRCh37]
Chr17:3894345..5787816 [NCBI36]
Chr17:17p13.2		 likely pathogenic
GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1 copy number loss See cases [RCV000137514] Chr17:4141725..4778120 [GRCh38]
Chr17:4045019..4681415 [GRCh37]
Chr17:3991768..4628164 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3 copy number gain See cases [RCV000139910] Chr17:3782655..4472701 [GRCh38]
Chr17:3685949..4375996 [GRCh37]
Chr17:3632698..4322745 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3 copy number gain See cases [RCV000139650] Chr17:4092608..5354473 [GRCh38]
Chr17:3995902..5257768 [GRCh37]
Chr17:3942651..5198492 [NCBI36]
Chr17:17p13.2		 likely benign
GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3 copy number gain See cases [RCV000142018] Chr17:3928523..4637233 [GRCh38]
Chr17:3831817..4540528 [GRCh37]
Chr17:3778566..4487277 [NCBI36]
Chr17:17p13.2		 likely benign|uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3 copy number gain See cases [RCV000143014] Chr17:4141725..4873241 [GRCh38]
Chr17:4045019..4776536 [GRCh37]
Chr17:3991768..4722711 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3999619-4404185)x3 copy number gain See cases [RCV000447403] Chr17:3999619..4404185 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17p13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.2(chr17:3737355-4266446)x3 copy number gain not provided [RCV000683880] Chr17:3737355..4266446 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3 copy number gain not provided [RCV000683881] Chr17:4036861..5174346 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2		 likely pathogenic
GRCh37/hg19 17p13.2(chr17:4048081-4104311)x3 copy number gain not provided [RCV000739380] Chr17:4048081..4104311 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.2(chr17:4104311-4209133)x3 copy number gain not provided [RCV000739381] Chr17:4104311..4209133 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_001330063.2(ANKFY1):c.240T>C (p.Ser80=) single nucleotide variant not provided [RCV000923905] Chr17:4235854 [GRCh38]
Chr17:4139149 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.2(chr17:3785678-4162530)x3 copy number gain not provided [RCV000847867] Chr17:3785678..4162530 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:4092385-4379912)x3 copy number gain not provided [RCV000847970] Chr17:4092385..4379912 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 copy number loss not provided [RCV000849625] Chr17:3759126..6128911 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3961616-4525393)x3 copy number gain not provided [RCV000847283] Chr17:3961616..4525393 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_001330063.2(ANKFY1):c.2994C>T (p.Asp998=) single nucleotide variant not provided [RCV000962460] Chr17:4173374 [GRCh38]
Chr17:4076669 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.2(chr17:3933998-4581861)x3 copy number gain not provided [RCV001006862] Chr17:3933998..4581861 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:4026961-4330947)x3 copy number gain not provided [RCV001259320] Chr17:4026961..4330947 [GRCh37]
Chr17:17p13.2		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20763 AgrOrtholog
COSMIC ANKFY1 COSMIC
Ensembl Genes ENSG00000185722 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000343362 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000459247 UniProtKB/TrEMBL
  ENSP00000459775 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000459943 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000460619 UniProtKB/TrEMBL
  ENSP00000467522 UniProtKB/TrEMBL
  ENSP00000497187 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000341657 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000570535 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000572412 UniProtKB/TrEMBL
  ENST00000574367 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000574736 UniProtKB/TrEMBL
  ENST00000575298 UniProtKB/TrEMBL
  ENST00000648043 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185722 GTEx
HGNC ID HGNC:20763 ENTREZGENE
Human Proteome Map ANKFY1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB/POZ_dom UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51479 UniProtKB/Swiss-Prot
NCBI Gene 51479 ENTREZGENE
OMIM 607927 OMIM
Pfam Ank UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot
  FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134984226 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot
  ZF_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot
  FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ANFY1_HUMAN UniProtKB/Swiss-Prot
  B3KPZ0 ENTREZGENE, UniProtKB/TrEMBL
  I3L1Z9_HUMAN UniProtKB/TrEMBL
  I3L3P8_HUMAN UniProtKB/TrEMBL
  K7EPT2_HUMAN UniProtKB/TrEMBL
  Q9P2R3 ENTREZGENE
UniProt Secondary A8KA65 UniProtKB/Swiss-Prot
  Q5RKV4 UniProtKB/Swiss-Prot
  Q9ULG5 UniProtKB/Swiss-Prot