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Q9P2R3 (ANFY1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1169 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

Sequence caution

The sequence BAA86569.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Cellular componentCytoplasm
Endosome
Membrane
   Coding sequence diversityAlternative splicing
   DomainANK repeat
Repeat
Zinc-finger
   LigandMetal-binding
Zinc
   PTMAcetylation
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Cellular componentendosome membrane

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular functionmetal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 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
Isoform 3 (identifier: Q9P2R3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     459-487: NCLLQRAAGAGNEAAALFLATNGAHVNHR → KARASRRGDAGVCRRQEMACKCLHPKFRN
     488-1169: Missing.
Isoform 4 (identifier: Q9P2R3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-4: MAEE → MPTPRDCGRLRSRAGRSRAGAACSRGAPRAAREALDCRRCRDAGGK
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.8
Chain2 – 11691168Ankyrin repeat and FYVE domain-containing protein 1
PRO_0000066890

Regions

Domain68 – 13063BTB
Repeat217 – 24731ANK 1
Repeat255 – 28430ANK 2
Repeat288 – 31730ANK 3
Repeat322 – 36241ANK 4
Repeat366 – 39631ANK 5
Repeat490 – 51930ANK 6
Repeat542 – 57231ANK 7
Repeat588 – 61730ANK 8
Repeat621 – 65030ANK 9
Repeat654 – 68330ANK 10
Repeat687 – 71630ANK 11
Repeat724 – 75330ANK 12
Repeat769 – 79830ANK 13
Repeat802 – 83231ANK 14
Repeat836 – 86530ANK 15
Repeat870 – 89930ANK 16
Repeat905 – 93430ANK 17
Repeat938 – 96730ANK 18
Repeat971 – 100131ANK 19
Repeat1005 – 103733ANK 20
Repeat1043 – 107230ANK 21
Zinc finger1104 – 116461FYVE-type

Amino acid modifications

Modified residue21N-acetylalanine Ref.8

Natural variations

Alternative sequence1 – 44MAEE → MPTPRDCGRLRSRAGRSRAG AACSRGAPRAAREALDCRRC RDAGGK in isoform 4.
VSP_041447
Alternative sequence459 – 48729NCLLQ…HVNHR → KARASRRGDAGVCRRQEMAC KCLHPKFRN in isoform 3.
VSP_041448
Alternative sequence488 – 1169682Missing in isoform 3.
VSP_041449
Alternative sequence6501V → VS in isoform 2.
VSP_035607

Experimental info

Sequence conflict481E → K in BAA90300. Ref.1
Sequence conflict1151M → V in BAA90300. Ref.1
Sequence conflict2071A → P in BAA90300. Ref.1
Sequence conflict2351F → S in BAA90300. Ref.1
Sequence conflict2701S → N in BAA90300. Ref.1
Sequence conflict283 – 2919DMVDKSGWS → AWWPRVLE in BAA90300. Ref.1
Sequence conflict299 – 3002RG → E in BAA90300. Ref.1
Sequence conflict3221A → C in BAA90300. Ref.1
Sequence conflict336 – 3372KK → RN in BAA90300. Ref.1
Sequence conflict3791N → D in BAA90300. Ref.1
Sequence conflict3851Q → H in BAA90300. Ref.1
Sequence conflict6451Q → R in BAA90300. Ref.1
Sequence conflict652 – 6543TQD → PQA in BAA90300. Ref.1
Sequence conflict6871K → E in BAA90300. Ref.1
Sequence conflict7131D → G in BAA90300. Ref.1
Sequence conflict7841Missing in BAA90300. Ref.1
Sequence conflict7951N → D in BAA90300. Ref.1
Sequence conflict7981A → P in BAA90300. Ref.1
Sequence conflict8071I → C in BAA90300. Ref.1
Sequence conflict827 – 8293DIH → ISS in BAA90300. Ref.1
Sequence conflict8351R → K in BAA90300. Ref.1
Sequence conflict8491N → D in BAA90300. Ref.1
Sequence conflict8601E → G in BAA90300. Ref.1
Sequence conflict8741F → S in BAA90300. Ref.1
Sequence conflict8891F → S in BAA90300. Ref.1
Sequence conflict9011V → A in BAA90300. Ref.1
Sequence conflict9051S → P in BAA90300. Ref.1
Sequence conflict9131A → V in BAA90300. Ref.1
Sequence conflict9161A → E in BAA90300. Ref.1
Sequence conflict9331N → T in BAA90300. Ref.1
Sequence conflict9401Q → K in BAA90300. Ref.1
Sequence conflict9491Q → E in BAA90300. Ref.1
Sequence conflict9621G → A in BAA90300. Ref.1
Sequence conflict11201T → A in BAA90300. Ref.1
Sequence conflict11571N → T in BAA90300. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 4, 2003. Version 2.
Checksum: 589297CA4ACDDB56

FASTA1,169128,399
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 7972BC32D1D37137
Show »

FASTA1,170128,486
Isoform 3 [UniParc].

Checksum: E27261B7EDC53947
Show »

FASTA48754,778
Isoform 4 [UniParc].

Checksum: 810E7D2D0F90352E
Show »

FASTA1,211132,821

References

« Hide '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 4), 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. expand/collapse author list , 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]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Mammary gland.
[8]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.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB037360 mRNA. Translation: BAA90300.1.
AB033081 mRNA. Translation: BAA86569.2. Different initiation.
AK292930 mRNA. Translation: BAF85619.1.
AC087292 Genomic DNA. No translation available.
AC087742 Genomic DNA. No translation available.
CH471108 Genomic DNA. Translation: EAW90448.1.
BC052308 mRNA. Translation: AAH52308.1.
IPIIPI00159899.
IPI00375301.
IPI00914539.
IPI01019010.
RefSeqNP_057460.3. NM_016376.3.
NP_065791.1. NM_020740.2.
UniGeneHs.696087.

3D structure databases

ProteinModelPortalQ9P2R3.
SMRQ9P2R3. Positions 51-193, 215-573, 690-1164.
ModBaseSearch...

Protein-protein interaction databases

DIPDIP-46068N.
IntActQ9P2R3. 13 interactions.
STRINGQ9P2R3.

PTM databases

PhosphoSiteQ9P2R3.

Polymorphism databases

DMDM33514905.

Proteomic databases

PRIDEQ9P2R3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000341657; ENSP00000343362; ENSG00000185722.
ENST00000433651; ENSP00000416005; ENSG00000185722.
GeneID51479.
KEGGhsa:51479.
UCSCuc002fxn.1. human.

Organism-specific databases

CTD51479.
GeneCardsGC17M004013.
H-InvDBHIX0013439.
HGNCHGNC:20763. ANKFY1.
HPAHPA024513.
HPA024522.
MIM607927. gene.
neXtProtNX_Q9P2R3.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG11792.
GeneTreeENSGT00560000077224.
HOGENOMHBG715841.
HOVERGENHBG050501.
InParanoidQ9P2R3.
OMASHPDIHL.
OrthoDBEOG4F7NJ7.
PhylomeDBQ9P2R3.

Gene expression databases

ArrayExpressQ9P2R3.
BgeeQ9P2R3.
CleanExHS_ANKFY1.
GenevestigatorQ9P2R3.
GermOnlineENSG00000185722. Homo sapiens.

Family and domain databases

InterProIPR002110. 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.
[Graphical view]
Gene3DG3DSA:1.25.40.20. ANK. 3 hits.
G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit.
G3DSA:3.30.40.10. Znf_RING/FYVE/PHD. 1 hit.
PfamPF12796. Ank_2. 5 hits.
PF00651. BTB. 1 hit.
PF01363. FYVE. 1 hit.
[Graphical view]
PRINTSPR01415. ANKYRIN.
SMARTSM00248. ANK. 21 hits.
SM00225. BTB. 1 hit.
SM00064. FYVE. 1 hit.
[Graphical view]
SUPFAMSSF48403. ANK. 3 hits.
SSF54695. BTB/POZ_fold. 1 hit.
SSF57903. FYVE_PHD_ZnF. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 12 hits.
PS50097. BTB. 1 hit.
PS50178. ZF_FYVE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

SOURCESearch...

Entry information

Entry nameANFY1_HUMAN
AccessionPrimary (citable) accession number: Q9P2R3
Secondary accession number(s): A8KA65, Q5RKV4, Q9ULG5
Entry history
Integrated into UniProtKB/Swiss-Prot: August 4, 2003
Last sequence update: August 4, 2003
Last modified: January 25, 2012
This is version 90 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families