Reviewed, UniProtKB/Swiss-Prot Q9P2R3 (ANFY1_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat and FYVE domain-containing protein 1
Alternative name(s):
    Ankyrin repeats hooked to a zinc finger motif

Gene names

Name:	ANKFY1
Synonyms:	ANKHZN, KIAA1255

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1169 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subcellular location	Cytoplasm. Endosome membrane; Peripheral membrane protein. Note: Also associated with endosomal membranes. Ref.1
Tissue specificity	High expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain. Ref.1 Ref.2
Sequence similarities	Contains 21 ANK repeats. Contains 1 BTB (POZ) domain. Contains 1 FYVE-type zinc finger.

Ontologies

Keywords
Cellular component	Cytoplasm Endosome Membrane
Coding sequence diversity	Alternative splicing
Domain	ANK repeat Repeat Zinc-finger
Ligand	Metal-binding Zinc
PTM	Acetylation
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Cellular component	endosome membrane Inferred from sequence or structural similarity. Source: UniProtKB extrinsic to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9P2R3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9P2R3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     650-650: V → VS

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.5
	Chain	2 – 1169	1168	Ankyrin repeat and FYVE domain-containing protein 1		PRO_0000066890
Regions
	Domain	68 – 130	63	BTB
	Repeat	217 – 247	31	ANK 1
	Repeat	255 – 284	30	ANK 2
	Repeat	288 – 317	30	ANK 3
	Repeat	322 – 362	41	ANK 4
	Repeat	366 – 396	31	ANK 5
	Repeat	490 – 519	30	ANK 6
	Repeat	542 – 572	31	ANK 7
	Repeat	588 – 617	30	ANK 8
	Repeat	621 – 650	30	ANK 9
	Repeat	654 – 683	30	ANK 10
	Repeat	687 – 716	30	ANK 11
	Repeat	724 – 753	30	ANK 12
	Repeat	769 – 798	30	ANK 13
	Repeat	802 – 832	31	ANK 14
	Repeat	836 – 865	30	ANK 15
	Repeat	870 – 899	30	ANK 16
	Repeat	905 – 934	30	ANK 17
	Repeat	938 – 967	30	ANK 18
	Repeat	971 – 1001	31	ANK 19
	Repeat	1005 – 1037	33	ANK 20
	Repeat	1043 – 1072	30	ANK 21
	Zinc finger	1104 – 1164	61	FYVE-type
Amino acid modifications
	Modified residue	2	1	N-acetylalanine Ref.5
Natural variations
	Alternative sequence	650	1	V → VS in isoform 2.		VSP_035607
Experimental info
	Sequence conflict	1 – 4	4	MAEE → AGGK in BAA86569. Ref.2
	Sequence conflict	48	1	E → K in BAA90300. Ref.1
	Sequence conflict	115	1	M → V in BAA90300. Ref.1
	Sequence conflict	207	1	A → P in BAA90300. Ref.1
	Sequence conflict	235	1	F → S in BAA90300. Ref.1
	Sequence conflict	270	1	S → N in BAA90300. Ref.1
	Sequence conflict	283 – 291	9	DMVDKSGWS → AWWPRVLE in BAA90300. Ref.1
	Sequence conflict	299 – 300	2	RG → E in BAA90300. Ref.1
	Sequence conflict	322	1	A → C in BAA90300. Ref.1
	Sequence conflict	336 – 337	2	KK → RN in BAA90300. Ref.1
	Sequence conflict	379	1	N → D in BAA90300. Ref.1
	Sequence conflict	385	1	Q → H in BAA90300. Ref.1
	Sequence conflict	645	1	Q → R in BAA90300. Ref.1
	Sequence conflict	652 – 654	3	TQD → PQA in BAA90300. Ref.1
	Sequence conflict	687	1	K → E in BAA90300. Ref.1
	Sequence conflict	713	1	D → G in BAA90300. Ref.1
	Sequence conflict	784	1	Missing in BAA90300. Ref.1
	Sequence conflict	795	1	N → D in BAA90300. Ref.1
	Sequence conflict	798	1	A → P in BAA90300. Ref.1
	Sequence conflict	807	1	I → C in BAA90300. Ref.1
	Sequence conflict	827 – 829	3	DIH → ISS in BAA90300. Ref.1
	Sequence conflict	835	1	R → K in BAA90300. Ref.1
	Sequence conflict	849	1	N → D in BAA90300. Ref.1
	Sequence conflict	860	1	E → G in BAA90300. Ref.1
	Sequence conflict	874	1	F → S in BAA90300. Ref.1
	Sequence conflict	889	1	F → S in BAA90300. Ref.1
	Sequence conflict	901	1	V → A in BAA90300. Ref.1
	Sequence conflict	905	1	S → P in BAA90300. Ref.1
	Sequence conflict	913	1	A → V in BAA90300. Ref.1
	Sequence conflict	916	1	A → E in BAA90300. Ref.1
	Sequence conflict	933	1	N → T in BAA90300. Ref.1
	Sequence conflict	940	1	Q → K in BAA90300. Ref.1
	Sequence conflict	949	1	Q → E in BAA90300. Ref.1
	Sequence conflict	962	1	G → A in BAA90300. Ref.1
	Sequence conflict	1120	1	T → A in BAA90300. Ref.1
	Sequence conflict	1157	1	N → T in BAA90300. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 4, 2003. Version 2. Checksum: 589297CA4ACDDB56	FASTA	1,169	128,399
	10 20 30 40 50 60 MAEEEVAKLE KHLMLLRQEY VKLQKKLAET EKRCALLAAQ ANKESSSESF ISRLLAIVAD 70 80 90 100 110 120 LYEQEQYSDL KIKVGDRHIS AHKFVLAARS DSWSLANLSS TKELDLSDAN PEVTMTMLRW 130 140 150 160 170 180 IYTDELEFRE DDVFLTELMK LANRFQLQLL RERCEKGVMS LVNVRNCIRF YQTAEELNAS 190 200 210 220 230 240 TLMNYCAEII ASHWDDLRKE DFSSMSAQLL YKMIKSKTEY PLHKAIKVER EDVVFLYLIE 250 260 270 280 290 300 MDSQLPGKLN EADHNGDLAL DLALSRRLES IATTLVSHKA DVDMVDKSGW SLLHKGIQRG 310 320 330 340 350 360 DLFAATFLIK NGAFVNAATL GAQETPLHLV ALYSSKKHSA DVMSEMAQIA EALLQAGANP 370 380 390 400 410 420 NMQDSKGRTP LHVSIMAGNE YVFSQLLQCK QLDLELKDHE GSTALWLAVQ HITVSSDQSV 430 440 450 460 470 480 NPFEDVPVVN GTSFDENSFA ARLIQRGSHT DAPDTATGNC LLQRAAGAGN EAAALFLATN 490 500 510 520 530 540 GAHVNHRNKW GETPLHTACR HGLANLTAEL LQQGANPNLQ TEEALPLPKE AASLTSLADS 550 560 570 580 590 600 VHLQTPLHMA IAYNHPDVVS VILEQKANAL HATNNLQIIP DFSLKDSRDQ TVLGLALWTG 610 620 630 640 650 660 MHTIAAQLLG SGAAINDTMS DGQTLLHMAI QRQDSKSALF LLEHQADINV RTQDGETALQ 670 680 690 700 710 720 LAIRNQLPLV VDAICTRGAD MSVPDEKGNP PLWLALANNL EDIASTLVRH GCDATCWGPG 730 740 750 760 770 780 PGGCLQTLLH RAIDENNEPT ACFLIRSGCD VNSPRQPGAN GEGEEEARDG QTPLHLAASW 790 800 810 820 830 840 GLEETVQCLL EFGANVNAQD AEGRTPIHVA ISSQHGVIIQ LLVSHPDIHL NVRDRQGLTP 850 860 870 880 890 900 FACAMTFKNN KSAEAILKRE SGAAEQVDNK GRNFLHVAVQ NSDIESVLFL ISVHANVNSR 910 920 930 940 950 960 VQDASKLTPL HLAVQAGSEI IVRNLLLAGA KVNELTKHRQ TALHLAAQQD LPTICSVLLE 970 980 990 1000 1010 1020 NGVDFAAVDE NGNNALHLAV MHGRLNNIRV LLTECTVDAE AFNLRGQSPL HILGQYGKEN 1030 1040 1050 1060 1070 1080 AAAIFDLFLE CMPGYPLDKP DADGSTVLLL AYMKGNANLC RAIVRSGARL GVNNNQGVNI 1090 1100 1110 1120 1130 1140 FNYQVATKQL LFRLLDMLSK EPPWCDGSYC YECTARFGVT TRKHHCRHCG RLLCHKCSTK 1150 1160 EIPIIKFDLN KPVRVCNICF DVLTLGGVS
	Isoform 2. Checksum: 7972BC32D1D37137	FASTA	1,170	128,486
	10 20 30 40 50 60 MAEEEVAKLE KHLMLLRQEY VKLQKKLAET EKRCALLAAQ ANKESSSESF ISRLLAIVAD 70 80 90 100 110 120 LYEQEQYSDL KIKVGDRHIS AHKFVLAARS DSWSLANLSS TKELDLSDAN PEVTMTMLRW 130 140 150 160 170 180 IYTDELEFRE DDVFLTELMK LANRFQLQLL RERCEKGVMS LVNVRNCIRF YQTAEELNAS 190 200 210 220 230 240 TLMNYCAEII ASHWDDLRKE DFSSMSAQLL YKMIKSKTEY PLHKAIKVER EDVVFLYLIE 250 260 270 280 290 300 MDSQLPGKLN EADHNGDLAL DLALSRRLES IATTLVSHKA DVDMVDKSGW SLLHKGIQRG 310 320 330 340 350 360 DLFAATFLIK NGAFVNAATL GAQETPLHLV ALYSSKKHSA DVMSEMAQIA EALLQAGANP 370 380 390 400 410 420 NMQDSKGRTP LHVSIMAGNE YVFSQLLQCK QLDLELKDHE GSTALWLAVQ HITVSSDQSV 430 440 450 460 470 480 NPFEDVPVVN GTSFDENSFA ARLIQRGSHT DAPDTATGNC LLQRAAGAGN EAAALFLATN 490 500 510 520 530 540 GAHVNHRNKW GETPLHTACR HGLANLTAEL LQQGANPNLQ TEEALPLPKE AASLTSLADS 550 560 570 580 590 600 VHLQTPLHMA IAYNHPDVVS VILEQKANAL HATNNLQIIP DFSLKDSRDQ TVLGLALWTG 610 620 630 640 650 660 MHTIAAQLLG SGAAINDTMS DGQTLLHMAI QRQDSKSALF LLEHQADINV SRTQDGETAL 670 680 690 700 710 720 QLAIRNQLPL VVDAICTRGA DMSVPDEKGN PPLWLALANN LEDIASTLVR HGCDATCWGP 730 740 750 760 770 780 GPGGCLQTLL HRAIDENNEP TACFLIRSGC DVNSPRQPGA NGEGEEEARD GQTPLHLAAS 790 800 810 820 830 840 WGLEETVQCL LEFGANVNAQ DAEGRTPIHV AISSQHGVII QLLVSHPDIH LNVRDRQGLT 850 860 870 880 890 900 PFACAMTFKN NKSAEAILKR ESGAAEQVDN KGRNFLHVAV QNSDIESVLF LISVHANVNS 910 920 930 940 950 960 RVQDASKLTP LHLAVQAGSE IIVRNLLLAG AKVNELTKHR QTALHLAAQQ DLPTICSVLL 970 980 990 1000 1010 1020 ENGVDFAAVD ENGNNALHLA VMHGRLNNIR VLLTECTVDA EAFNLRGQSP LHILGQYGKE 1030 1040 1050 1060 1070 1080 NAAAIFDLFL ECMPGYPLDK PDADGSTVLL LAYMKGNANL CRAIVRSGAR LGVNNNQGVN 1090 1100 1110 1120 1130 1140 IFNYQVATKQ LLFRLLDMLS KEPPWCDGSY CYECTARFGV TTRKHHCRHC GRLLCHKCST 1150 1160 1170 KEIPIIKFDL NKPVRVCNIC FDVLTLGGVS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization and chromosomal mapping of a novel human gene, ANKHZN." Kuriyama H., Asakawa S., Minoshima S., Maruyama H., Ishii N., Ito K., Gejyo F., Arakawa M., Shimizu N., Kuwano R. Gene 253:151-160(2000) [PubMed: 10940552] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Fetal brain.
[2]	"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." Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. DNA Res. 6:337-345(1999) [PubMed: 10574462] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Brain.
[3]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Trachea.
[5]	Bienvenut W.V., Vousden K.H., Lukashchuk N. Submitted (MAR-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-11; 145-151 AND 924-931, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, MASS SPECTROMETRY. Tissue: Lung carcinoma.
[6]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB037360 mRNA. Translation: BAA90300.1. AB033081 mRNA. Translation: BAA86569.2. Different initiation. AK292930 mRNA. Translation: BAF85619.1.
IPI	IPI00159899. IPI00914539.
RefSeq	NP_057460.3.
UniGene	Hs.696087
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9P2R3.
PTM databases
PhosphoSite	Q9P2R3.
Proteomic databases
PRIDE	Q9P2R3.
Genome annotation databases
Ensembl	ENST00000341657; ENSP00000343362; ENSG00000185722; Homo sapiens. [Genome view]
GeneID	51479.
KEGG	hsa:51479.
UCSC	uc002fxn.1. human.
Organism-specific databases
CTD	51479.
GeneCards	GC17M004013.
HGNC	HGNC:20763. ANKFY1.
HPA	HPA024513.
MIM	607927. gene.
PharmGKB	PA134984226.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9P2R3.
HOVERGEN	Q9P2R3.
OMA	SGCDVNS
Enzyme and pathway databases
BioCyc	CATTLE:ENSBTAG00000021091-MON.
Gene expression databases
ArrayExpress	Q9P2R3.
Bgee	Q9P2R3.
CleanEx	HS_ANKFY1.
Genevestigator	Q9P2R3.
GermOnline	ENSG00000185722. Homo sapiens.
Family and domain databases
InterPro	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. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 4 hits. G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit.
Pfam	PF00023. Ank. 21 hits. PF00651. BTB. 1 hit. PF01363. FYVE. 1 hit. [Graphical view]
SMART	SM00248. ANK. 21 hits. SM00225. BTB. 1 hit. SM00064. FYVE. 1 hit. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 12 hits. PS50097. BTB. 1 hit. PS50178. ZF_FYVE. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

ANFY1_HUMAN

Accession

Primary (citable) accession number: Q9P2R3
Secondary accession number(s): A8KA65, Q9ULG5

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 4, 2003
Last sequence update:	August 4, 2003
Last modified:	November 24, 2009
This is version 68 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.