ZFYVE1 (zinc finger FYVE-type containing 1) - Rat Genome Database
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Gene: ZFYVE1 (zinc finger FYVE-type containing 1) Homo sapiens
Analyze
Symbol: ZFYVE1
Name: zinc finger FYVE-type containing 1
RGD ID: 1317194
HGNC Page HGNC
Description: Exhibits phosphatidylinositol binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in several processes, including cellular response to starvation; lipid droplet formation; and negative regulation of phosphatase activity. Localizes to several cellular components, including extrinsic component of omegasome membrane; lipid droplet; and mitochondria-associated endoplasmic reticulum membrane. Colocalizes with membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DFCP1; double FYVE-containing protein 1; KIAA1589; phosphoinositide-binding protein SR3; PPP1R172; SR3; TAFF1; tandem FYVE fingers-1 protein; zinc finger FYVE domain-containing protein 1; zinc finger protein, subfamily 2A (FYVE domain containing), 1; zinc finger protein, subfamily 2A, member 1; zinc finger, FYVE domain containing 1; ZNFN2A1
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 Ensembl1472,969,451 - 73,027,131 (-)EnsemblGRCh38hg38GRCh38
GRCh381472,969,445 - 73,027,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371473,436,153 - 73,493,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361472,505,912 - 72,563,592 (-)NCBINCBI36hg18NCBI36
Build 341472,505,911 - 72,523,417NCBI
Celera1453,499,299 - 53,557,223 (-)NCBI
Cytogenetic Map14q24.2NCBI
HuRef1453,602,230 - 53,659,971 (-)NCBIHuRef
CHM1_11473,374,312 - 73,431,997 (-)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

References

Additional References at PubMed
PMID:8889548   PMID:10997877   PMID:11024279   PMID:11256955   PMID:11739631   PMID:11804589   PMID:12477932   PMID:12508121   PMID:14702039   PMID:15489334   PMID:15498874   PMID:16344560  
PMID:17207965   PMID:19389623   PMID:19898463   PMID:21832049   PMID:21900206   PMID:22178386   PMID:22456507   PMID:23455425   PMID:24954904   PMID:25578879   PMID:25876663   PMID:26673895  
PMID:28514442   PMID:30021884   PMID:30970241   PMID:31293035   PMID:31723608   PMID:32296183  


Genomics

Comparative Map Data
ZFYVE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1472,969,451 - 73,027,131 (-)EnsemblGRCh38hg38GRCh38
GRCh381472,969,445 - 73,027,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371473,436,153 - 73,493,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361472,505,912 - 72,563,592 (-)NCBINCBI36hg18NCBI36
Build 341472,505,911 - 72,523,417NCBI
Celera1453,499,299 - 53,557,223 (-)NCBI
Cytogenetic Map14q24.2NCBI
HuRef1453,602,230 - 53,659,971 (-)NCBIHuRef
CHM1_11473,374,312 - 73,431,997 (-)NCBICHM1_1
Zfyve1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391283,593,330 - 83,679,289 (-)NCBIGRCm39mm39
GRCm39 Ensembl1283,593,332 - 83,643,996 (-)Ensembl
GRCm381283,546,556 - 83,597,245 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1283,546,558 - 83,597,222 (-)EnsemblGRCm38mm10GRCm38
MGSCv371284,887,891 - 84,938,097 (-)NCBIGRCm37mm9NCBIm37
MGSCv361284,436,673 - 84,484,642 (-)NCBImm8
Celera1284,993,303 - 85,043,636 (-)NCBICelera
Cytogenetic Map12D1NCBI
Zfyve1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26103,184,938 - 103,234,111 (-)NCBI
Rnor_6.0 Ensembl6107,031,412 - 107,080,524 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.06107,031,411 - 107,080,590 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06118,460,937 - 118,509,830 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46107,498,866 - 107,548,204 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16107,503,540 - 107,551,702 (-)NCBI
Celera6101,015,641 - 101,064,748 (-)NCBICelera
Cytogenetic Map6q24NCBI
Zfyve1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555232,334,175 - 2,388,612 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555232,334,175 - 2,388,612 (+)NCBIChiLan1.0ChiLan1.0
ZFYVE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11472,414,810 - 72,471,578 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1472,414,810 - 72,471,578 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01453,550,688 - 53,608,297 (-)NCBIMhudiblu_PPA_v0panPan3
ZFYVE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl846,353,761 - 46,406,038 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1846,353,489 - 46,407,912 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Zfyve1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364882,304,521 - 2,364,472 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZFYVE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl796,323,262 - 96,380,271 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1796,323,256 - 96,380,286 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27102,110,548 - 102,167,573 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZFYVE1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12450,219,429 - 50,276,783 (-)NCBI
ChlSab1.1 Ensembl2450,220,867 - 50,273,900 (-)Ensembl
Zfyve1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473428,384,199 - 28,442,211 (+)NCBI

Position Markers
G38147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,437,853 - 73,438,021UniSTSGRCh37
Build 361472,507,606 - 72,507,774RGDNCBI36
Celera1453,500,993 - 53,501,161RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,603,924 - 53,604,092UniSTS
G38233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,480,367 - 73,480,474UniSTSGRCh37
Build 361472,550,120 - 72,550,227RGDNCBI36
Celera1453,543,544 - 53,543,651RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,646,486 - 53,646,593UniSTS
G38241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,451,323 - 73,451,478UniSTSGRCh37
Build 361472,521,076 - 72,521,231RGDNCBI36
Celera1453,514,459 - 53,514,614RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,617,449 - 53,617,604UniSTS
G38161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,448,170 - 73,448,291UniSTSGRCh37
Build 361472,517,923 - 72,518,044RGDNCBI36
Celera1453,511,306 - 53,511,427RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,614,296 - 53,614,417UniSTS
RH26227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,050,819 - 80,050,918UniSTSGRCh37
GRCh371473,437,524 - 73,437,624UniSTSGRCh37
Build 361472,507,277 - 72,507,377RGDNCBI36
Celera1453,500,664 - 53,500,764RGD
Celera1556,987,159 - 56,987,258UniSTS
Cytogenetic Map14q24.2UniSTS
HuRef1556,809,021 - 56,809,120UniSTS
HuRef1453,603,595 - 53,603,695UniSTS
RH64886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,049,552 - 80,049,719UniSTSGRCh37
GRCh371473,436,259 - 73,436,423UniSTSGRCh37
Build 361472,506,012 - 72,506,176RGDNCBI36
Celera1453,499,399 - 53,499,563RGD
Celera1556,985,891 - 56,986,058UniSTS
Cytogenetic Map14q24.2UniSTS
HuRef1556,807,753 - 56,807,920UniSTS
HuRef1453,602,330 - 53,602,494UniSTS
G63597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,464,699 - 73,464,999UniSTSGRCh37
Build 361472,534,452 - 72,534,752RGDNCBI36
Celera1453,527,834 - 53,528,134RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,630,826 - 53,631,126UniSTS
TNG Radiation Hybrid Map1426285.0UniSTS
D14S1270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,470,226 - 73,470,305UniSTSGRCh37
Build 361472,539,979 - 72,540,058RGDNCBI36
Celera1453,533,403 - 53,533,482RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,636,383 - 53,636,462UniSTS
G35961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,451,773 - 73,451,873UniSTSGRCh37
Build 361472,521,526 - 72,521,626RGDNCBI36
Celera1453,514,909 - 53,515,009RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,617,899 - 53,617,999UniSTS
G38191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,462,848 - 73,463,061UniSTSGRCh37
Build 361472,532,601 - 72,532,814RGDNCBI36
Celera1453,525,983 - 53,526,196RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,628,975 - 53,629,188UniSTS
G35785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,052,217 - 80,052,318UniSTSGRCh37
GRCh371473,438,933 - 73,439,034UniSTSGRCh37
Build 361472,508,686 - 72,508,787RGDNCBI36
Celera1453,502,073 - 53,502,174RGD
Celera1556,988,557 - 56,988,658UniSTS
Cytogenetic Map14q24.2UniSTS
HuRef1556,810,418 - 56,810,519UniSTS
HuRef1453,605,076 - 53,605,177UniSTS
D14S1353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,440,752 - 73,440,892UniSTSGRCh37
Build 361472,510,505 - 72,510,645RGDNCBI36
Celera1453,503,892 - 53,504,032RGD
HuRef1453,606,895 - 53,607,035UniSTS
D14S1373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,436,175 - 73,436,321UniSTSGRCh37
Build 361472,505,928 - 72,506,074RGDNCBI36
Celera1556,985,807 - 56,985,953UniSTS
Celera1453,499,315 - 53,499,461RGD
Cytogenetic Map14q24.2UniSTS
HuRef1556,807,669 - 56,807,815UniSTS
HuRef1453,602,246 - 53,602,392UniSTS
D14S1387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,484,705 - 73,484,817UniSTSGRCh37
Build 361472,554,458 - 72,554,570RGDNCBI36
Celera1453,547,881 - 53,547,993RGD
HuRef1453,650,739 - 53,650,851UniSTS
D14S1391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,439,221 - 73,439,346UniSTSGRCh37
Build 361472,508,974 - 72,509,099RGDNCBI36
Celera1453,502,361 - 53,502,486RGD
HuRef1453,605,364 - 53,605,489UniSTS
G38325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,446,447 - 73,446,596UniSTSGRCh37
Build 361472,516,200 - 72,516,349RGDNCBI36
Celera1453,509,587 - 53,509,736RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,612,577 - 53,612,726UniSTS
G35461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,439,010 - 73,439,244UniSTSGRCh37
Build 361472,508,763 - 72,508,997RGDNCBI36
Celera1453,502,150 - 53,502,384RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,605,153 - 53,605,387UniSTS
G38063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,462,797 - 73,463,096UniSTSGRCh37
Build 361472,532,550 - 72,532,849RGDNCBI36
Celera1453,525,932 - 53,526,231RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,628,924 - 53,629,223UniSTS
G35458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371473,451,312 - 73,451,479UniSTSGRCh37
Build 361472,521,065 - 72,521,232RGDNCBI36
Celera1453,514,448 - 53,514,615RGD
Cytogenetic Map14q24.2UniSTS
HuRef1453,617,438 - 53,617,605UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4266
Count of miRNA genes:927
Interacting mature miRNAs:1115
Transcripts:ENST00000318876, ENST00000394207, ENST00000553891, ENST00000554145, ENST00000554250, ENST00000555072, ENST00000556040, ENST00000556143, ENST00000556761
Prediction methods:Microtar, Miranda, 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 1842 1672 1275 217 1334 98 4008 1426 2141 289 1328 1482 130 1067 2476 2
Low 597 1319 451 407 617 367 348 771 1593 130 132 131 44 1 137 312 4 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001281734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF251025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF318319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI073571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ310569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL442663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW070816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU740588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX339655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK005173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA324499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB059103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL734498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY248287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318876   ⟹   ENSP00000326921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1472,969,452 - 73,027,131 (-)Ensembl
RefSeq Acc Id: ENST00000394207   ⟹   ENSP00000377757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1472,970,878 - 72,986,944 (-)Ensembl
RefSeq Acc Id: ENST00000553891   ⟹   ENSP00000452442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1472,969,451 - 73,027,106 (-)Ensembl
RefSeq Acc Id: ENST00000554145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1472,974,828 - 72,978,995 (-)Ensembl
RefSeq Acc Id: ENST00000554250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1472,977,964 - 72,979,225 (-)Ensembl
RefSeq Acc Id: ENST00000555072   ⟹   ENSP00000452232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1472,970,882 - 72,986,985 (-)Ensembl
RefSeq Acc Id: ENST00000556040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1472,970,930 - 72,975,941 (-)Ensembl
RefSeq Acc Id: ENST00000556143   ⟹   ENSP00000450742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1472,969,451 - 73,027,106 (-)Ensembl
RefSeq Acc Id: ENST00000556761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1472,974,078 - 72,975,207 (-)Ensembl
RefSeq Acc Id: NM_001281734   ⟹   NP_001268663
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381472,969,451 - 73,027,106 (-)NCBI
HuRef1453,602,224 - 53,659,971 (-)NCBI
CHM1_11473,374,312 - 73,431,997 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001281735   ⟹   NP_001268664
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381472,969,445 - 72,986,956 (-)NCBI
HuRef1453,602,224 - 53,659,971 (-)NCBI
CHM1_11473,374,312 - 73,391,803 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021260   ⟹   NP_067083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381472,969,451 - 73,027,106 (-)NCBI
GRCh371473,436,152 - 73,493,920 (-)NCBI
Build 361472,505,912 - 72,563,592 (-)NCBI Archive
Celera1453,499,299 - 53,557,223 (-)RGD
HuRef1453,602,224 - 53,659,971 (-)NCBI
CHM1_11473,374,312 - 73,431,997 (-)NCBI
Sequence:
RefSeq Acc Id: NM_178441   ⟹   NP_848535
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381472,969,445 - 72,986,956 (-)NCBI
GRCh371473,436,152 - 73,493,920 (-)NCBI
Build 361472,505,912 - 72,523,417 (-)NCBI Archive
Celera1453,499,299 - 53,557,223 (-)RGD
HuRef1453,602,224 - 53,659,971 (-)NCBI
CHM1_11473,374,312 - 73,391,803 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021373   ⟹   XP_016876862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381472,969,451 - 72,997,401 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001750376
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381472,969,451 - 73,027,136 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_067083   ⟸   NM_021260
- Peptide Label: isoform 1
- UniProtKB: Q9HBF4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_848535   ⟸   NM_178441
- Peptide Label: isoform 2
- UniProtKB: Q9HBF4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001268663   ⟸   NM_001281734
- Peptide Label: isoform 3
- UniProtKB: Q9HBF4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001268664   ⟸   NM_001281735
- Peptide Label: isoform 2
- UniProtKB: Q9HBF4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016876862   ⟸   XM_017021373
- Peptide Label: isoform X1
- UniProtKB: Q9HBF4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000452232   ⟸   ENST00000555072
RefSeq Acc Id: ENSP00000450742   ⟸   ENST00000556143
RefSeq Acc Id: ENSP00000377757   ⟸   ENST00000394207
RefSeq Acc Id: ENSP00000326921   ⟸   ENST00000318876
RefSeq Acc Id: ENSP00000452442   ⟸   ENST00000553891
Protein Domains
FYVE-type

Promoters
RGD ID:6792050
Promoter ID:HG_KWN:19719
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:ENST00000318876,   UC010ARJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361472,563,401 - 72,563,901 (-)MPROMDB
RGD ID:7228073
Promoter ID:EPDNEW_H19782
Type:initiation region
Name:ZFYVE1_1
Description:zinc finger FYVE-type 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
GRCh381473,027,106 - 73,027,166EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3 copy number gain See cases [RCV000052083] Chr14:72886764..73367226 [GRCh38]
Chr14:73353472..73833934 [GRCh37]
Chr14:72423225..72903687 [NCBI36]
Chr14:14q24.2-24.3
uncertain significance
NM_021260.3(ZFYVE1):c.994C>T (p.Pro332Ser) single nucleotide variant Malignant melanoma [RCV000070600] Chr14:72993352 [GRCh38]
Chr14:73460060 [GRCh37]
Chr14:72529813 [NCBI36]
Chr14:14q24.2
not provided
NM_021260.3(ZFYVE1):c.1935T>C (p.Pro645=) single nucleotide variant Malignant melanoma [RCV000062787] Chr14:72974831 [GRCh38]
Chr14:73441539 [GRCh37]
Chr14:72511292 [NCBI36]
Chr14:14q24.2
not provided
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) deletion Intellectual disability, mild [RCV000190520] Chr14:73152115..77698582 [GRCh37]
Chr14:14q24.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1 copy number loss See cases [RCV000512344] Chr14:68035240..73568130 [GRCh37]
Chr14:14q24.1-24.2
likely pathogenic
GRCh37/hg19 14q24.2(chr14:73264012-73621110)x3 copy number gain not provided [RCV000683601] Chr14:73264012..73621110 [GRCh37]
Chr14:14q24.2
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q24.2-24.3(chr14:73304565-73833005)x3 copy number gain not provided [RCV000751051] Chr14:73304565..73833005 [GRCh37]
Chr14:14q24.2-24.3
likely benign
GRCh37/hg19 14q24.2(chr14:73373094-73702874)x3 copy number gain not provided [RCV000751052] Chr14:73373094..73702874 [GRCh37]
Chr14:14q24.2
likely benign
NM_021260.4(ZFYVE1):c.484-4G>T single nucleotide variant not provided [RCV000948937] Chr14:72998319 [GRCh38]
Chr14:73465027 [GRCh37]
Chr14:14q24.2
likely benign
NM_021260.4(ZFYVE1):c.465C>T (p.Asp155=) single nucleotide variant not provided [RCV000948412] Chr14:73024044 [GRCh38]
Chr14:73490752 [GRCh37]
Chr14:14q24.2
benign
NM_021260.4(ZFYVE1):c.591C>A (p.Leu197=) single nucleotide variant not provided [RCV000895411] Chr14:72998208 [GRCh38]
Chr14:73464916 [GRCh37]
Chr14:14q24.2
benign
GRCh37/hg19 14q24.2(chr14:73337224-73617867)x3 copy number gain not provided [RCV001259786] Chr14:73337224..73617867 [GRCh37]
Chr14:14q24.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13180 AgrOrtholog
COSMIC ZFYVE1 COSMIC
Ensembl Genes ENSG00000165861 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000326921 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377757 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000450742 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000452232 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000452442 UniProtKB/TrEMBL
Ensembl Transcript ENST00000318876 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394207 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000553891 UniProtKB/TrEMBL
  ENST00000555072 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000556143 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165861 GTEx
HGNC ID HGNC:13180 ENTREZGENE
Human Proteome Map ZFYVE1 Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZFYV1 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:53349 UniProtKB/Swiss-Prot
NCBI Gene 53349 ENTREZGENE
OMIM 605471 OMIM
PANTHER PTHR46624 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37752 PharmGKB
PROSITE ZF_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt G3V5N8_HUMAN UniProtKB/TrEMBL
  Q9HBF4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary J3KNL9 UniProtKB/Swiss-Prot
  Q8WYX7 UniProtKB/Swiss-Prot
  Q96K57 UniProtKB/Swiss-Prot
  Q9BXP9 UniProtKB/Swiss-Prot
  Q9HCI3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 ZFYVE1  zinc finger FYVE-type containing 1    zinc finger, FYVE domain containing 1  Symbol and/or name change 5135510 APPROVED