Human Gene ANKFY1 (ENST00000341657.9_13) from GENCODE V47lift37

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Description: ankyrin repeat and FYVE domain containing 1, transcript variant 4 (from RefSeq NR_047571.3)
Gencode Transcript: ENST00000341657.9_13
Gencode Gene: ENSG00000185722.18_16
Transcript (Including UTRs)
Position: hg19 chr17:4,067,115-4,167,274 Size: 100,160 Total Exon Count: 25 Strand: -
Coding Region
Position: hg19 chr17:4,071,073-4,167,236 Size: 96,164 Coding Exon Count: 25

Page Index	Sequence and Links	UniProtKB Comments	Primers	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr17:4,067,115-4,167,274)			mRNA (may differ from genome)		Protein (1169 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	MGI	OMIM	PubMed	UniProtKB	Wikipedia
BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: ANFY1_HUMAN DESCRIPTION: RecName: Full=Ankyrin repeat and FYVE domain-containing protein 1; AltName: Full=Ankyrin repeats hooked to a zinc finger motif; SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane; Peripheral membrane protein. Note=Also associated with endosomal membranes. TISSUE SPECIFICITY: High expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain. SIMILARITY: Contains 21 ANK repeats. SIMILARITY: Contains 1 BTB (POZ) domain. SIMILARITY: Contains 1 FYVE-type zinc finger. SEQUENCE CAUTION: Sequence=AAH52308.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAA86569.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D013749 Tetrachlorodibenzodioxin D014635 Valproic Acid C006780 bisphenol A C049325 1,2-dithiol-3-thione C023514 2,6-dinitrotoluene C012796 2-butenal D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide C547126 AZM551248 D000082 Acetaminophen D016604 Aflatoxin B1 D000535 Aluminum D001554 Benzene D019327 Copper Sulfate D004997 Ethinyl Estradiol D005485 Flutamide C044887 beta-methylcholine C012589 trichostatin A

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 18.09 RPKM in Colon - Sigmoid Total median expression: 491.14 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-10.60	38	-0.279	Picture	PostScript	Text
3' UTR	-1207.60	3958	-0.305	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR000306 - Znf_FYVE
IPR017455 - Znf_FYVE-rel
IPR011011 - Znf_FYVE_PHD
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00023 - Ankyrin repeat
PF00651 - BTB/POZ domain
PF01363 - FYVE zinc finger
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
69000 - FAD-dependent thiol oxidase
48403 - Ankyrin repeat
54695 - POZ domain
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q9P2R3


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0005515 protein binding GO:0017137 Rab GTPase binding GO:0046872 metal ion binding GO:1901981 phosphatidylinositol phosphate binding Biological Process: GO:0006897 endocytosis GO:0016197 endosomal transport GO:0034058 endosomal vesicle fusion GO:0042147 retrograde transport, endosome to Golgi GO:0048549 positive regulation of pinocytosis GO:0090160 Golgi to lysosome transport Cellular Component: GO:0005737 cytoplasm GO:0005765 lysosomal membrane GO:0005768 endosome GO:0005769 early endosome GO:0005829 cytosol GO:0010008 endosome membrane GO:0016020 membrane GO:0043231 intracellular membrane-bounded organelle GO:0044354 macropinosome GO:0070062 extracellular exosome GO:0030904 retromer complex

Descriptions from all associated GenBank mRNAs


	CR933717 - Homo sapiens mRNA; cDNA DKFZp686M19106 (from clone DKFZp686M19106). AK025717 - Homo sapiens cDNA: FLJ22064 fis, clone HEP10539. AK025960 - Homo sapiens cDNA: FLJ22307 fis, clone HRC05032. AB073897 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla03212, full insert sequence. JD283864 - Sequence 264888 from Patent EP1572962. JD049442 - Sequence 30466 from Patent EP1572962. JD552459 - Sequence 533483 from Patent EP1572962. JD071226 - Sequence 52250 from Patent EP1572962. JD117322 - Sequence 98346 from Patent EP1572962. JD387669 - Sequence 368693 from Patent EP1572962. JD054456 - Sequence 35480 from Patent EP1572962. JD310741 - Sequence 291765 from Patent EP1572962. JD360961 - Sequence 341985 from Patent EP1572962. JD379499 - Sequence 360523 from Patent EP1572962. JD451366 - Sequence 432390 from Patent EP1572962. JD273475 - Sequence 254499 from Patent EP1572962. JD410595 - Sequence 391619 from Patent EP1572962. JD337098 - Sequence 318122 from Patent EP1572962. JD444758 - Sequence 425782 from Patent EP1572962. JD307608 - Sequence 288632 from Patent EP1572962. DQ584491 - Homo sapiens piRNA piR-51603, complete sequence. JD253436 - Sequence 234460 from Patent EP1572962. JD258371 - Sequence 239395 from Patent EP1572962. DQ577475 - Homo sapiens piRNA piR-45587, complete sequence. DQ592114 - Homo sapiens piRNA piR-59226, complete sequence. AB033081 - Homo sapiens KIAA1255 mRNA for KIAA1255 protein. AB037360 - Homo sapiens mRNA for ANKHZN, complete cds. JD536451 - Sequence 517475 from Patent EP1572962. JD538394 - Sequence 519418 from Patent EP1572962. JD231125 - Sequence 212149 from Patent EP1572962. JD104805 - Sequence 85829 from Patent EP1572962. JD155755 - Sequence 136779 from Patent EP1572962. JD218240 - Sequence 199264 from Patent EP1572962. JD523692 - Sequence 504716 from Patent EP1572962. JD040618 - Sequence 21642 from Patent EP1572962. JD044196 - Sequence 25220 from Patent EP1572962. JD489985 - Sequence 471009 from Patent EP1572962. JD202130 - Sequence 183154 from Patent EP1572962. AK074324 - Homo sapiens cDNA FLJ23744 fis, clone HEP15518, highly similar to ANKHZN protein. BC060812 - Homo sapiens cDNA clone IMAGE:30339773, containing frame-shift errors. JD559935 - Sequence 540959 from Patent EP1572962. JD401000 - Sequence 382024 from Patent EP1572962. JD383282 - Sequence 364306 from Patent EP1572962. JD189320 - Sequence 170344 from Patent EP1572962. JD487526 - Sequence 468550 from Patent EP1572962. JD475632 - Sequence 456656 from Patent EP1572962. JD045482 - Sequence 26506 from Patent EP1572962. JD381096 - Sequence 362120 from Patent EP1572962. JD064761 - Sequence 45785 from Patent EP1572962. JD267364 - Sequence 248388 from Patent EP1572962. JD467579 - Sequence 448603 from Patent EP1572962. JD227005 - Sequence 208029 from Patent EP1572962. JD227307 - Sequence 208331 from Patent EP1572962. JD197110 - Sequence 178134 from Patent EP1572962. JD538632 - Sequence 519656 from Patent EP1572962. JD503330 - Sequence 484354 from Patent EP1572962. AK292930 - Homo sapiens cDNA FLJ77476 complete cds, highly similar to Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA. JD237178 - Sequence 218202 from Patent EP1572962. JD493503 - Sequence 474527 from Patent EP1572962. JD551607 - Sequence 532631 from Patent EP1572962. JD383138 - Sequence 364162 from Patent EP1572962. JD397530 - Sequence 378554 from Patent EP1572962. JD187658 - Sequence 168682 from Patent EP1572962. BC152991 - Synthetic construct Homo sapiens clone IMAGE:100016288, MGC:184243 ankyrin repeat and FYVE domain containing 1 (ANKFY1) mRNA, encodes complete protein. BC148355 - Synthetic construct Homo sapiens clone IMAGE:100015352, MGC:183001 ankyrin repeat and FYVE domain containing 1 (ANKFY1) mRNA, encodes complete protein. AB462945 - Synthetic construct DNA, clone: pF1KA1255, Homo sapiens ANKFY1 gene for ankyrin repeat and FYVE domain containing 1, without stop codon, in Flexi system. AK057047 - Homo sapiens cDNA FLJ32485 fis, clone SKNMC2001596, highly similar to Ankyrin repeat and FYVE domain-containing protein 1. AK025483 - Homo sapiens cDNA: FLJ21830 fis, clone HEP01485, highly similar to AB037360 Homo sapiens mRNA for ANKHZN. AK225170 - Homo sapiens mRNA for ankyrin repeat and FYVE domain containing 1 isoform 1 variant, clone: CBR05880. BC052308 - Homo sapiens ankyrin repeat and FYVE domain containing 1, mRNA (cDNA clone IMAGE:6729940), complete cds. AK302712 - Homo sapiens cDNA FLJ58440 complete cds, highly similar to Ankyrin repeat and FYVE domain-containing protein 1.

Other Names for This Gene


	Alternate Gene Symbols: A8KA65, ANFY1_HUMAN, ANKHZN, ENST00000341657.1, ENST00000341657.2, ENST00000341657.3, ENST00000341657.4, ENST00000341657.5, ENST00000341657.6, ENST00000341657.7, ENST00000341657.8, KIAA1255, NR_047571, Q5RKV4, Q9P2R3, Q9ULG5, uc317wcc.1, uc317wcc.2 UCSC ID: ENST00000341657.9_13 RefSeq Accession: NM_001330063.2 Protein: Q9P2R3 (aka ANFY1_HUMAN or AFY1_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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