Q9P2R3 (ANFY1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 90.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames 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 |
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| Organism | Homo sapiens (Human) | ||||
| 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. |
| Sequence caution | The sequence BAA86569.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
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 Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | endosome membrane Inferred from sequence or structural similarity. Source: UniProtKB |
| Molecular function | metal 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.8 | ||||||
| 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.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 4 | 4 | MAEE → MPTPRDCGRLRSRAGRSRAG AACSRGAPRAAREALDCRRC RDAGGK in isoform 4. | VSP_041447 | |||||
| Alternative sequence | 459 – 487 | 29 | NCLLQ…HVNHR → KARASRRGDAGVCRRQEMAC KCLHPKFRN in isoform 3. | VSP_041448 | |||||
| Alternative sequence | 488 – 1169 | 682 | Missing in isoform 3. | VSP_041449 | |||||
| Alternative sequence | 650 | 1 | V → VS in isoform 2. | VSP_035607 | |||||
Experimental info | |||||||||
| 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
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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. 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. 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. 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. |
| IPI | IPI00159899. IPI00375301. IPI00914539. IPI01019010. |
| RefSeq | NP_057460.3. NM_016376.3. NP_065791.1. NM_020740.2. |
| UniGene | Hs.696087. |
3D structure databases | |
| ProteinModelPortal | Q9P2R3. |
| SMR | Q9P2R3. Positions 51-193, 215-573, 690-1164. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-46068N. |
| IntAct | Q9P2R3. 13 interactions. |
| STRING | Q9P2R3. |
PTM databases | |
| PhosphoSite | Q9P2R3. |
Polymorphism databases | |
| DMDM | 33514905. |
Proteomic databases | |
| PRIDE | Q9P2R3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000341657; ENSP00000343362; ENSG00000185722. ENST00000433651; ENSP00000416005; ENSG00000185722. |
| GeneID | 51479. |
| KEGG | hsa:51479. |
| UCSC | uc002fxn.1. human. |
Organism-specific databases | |
| CTD | 51479. |
| GeneCards | GC17M004013. |
| H-InvDB | HIX0013439. |
| HGNC | HGNC:20763. ANKFY1. |
| HPA | HPA024513. HPA024522. |
| MIM | 607927. gene. |
| neXtProt | NX_Q9P2R3. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG11792. |
| GeneTree | ENSGT00560000077224. |
| HOGENOM | HBG715841. |
| HOVERGEN | HBG050501. |
| InParanoid | Q9P2R3. |
| OMA | SHPDIHL. |
| OrthoDB | EOG4F7NJ7. |
| PhylomeDB | Q9P2R3. |
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. IPR013083. Znf_RING/FYVE/PHD. [Graphical view] |
| Gene3D | G3DSA: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. |
| Pfam | PF12796. Ank_2. 5 hits. PF00651. BTB. 1 hit. PF01363. FYVE. 1 hit. [Graphical view] |
| PRINTS | PR01415. ANKYRIN. |
| SMART | SM00248. ANK. 21 hits. SM00225. BTB. 1 hit. SM00064. FYVE. 1 hit. [Graphical view] |
| SUPFAM | SSF48403. ANK. 3 hits. SSF54695. BTB/POZ_fold. 1 hit. SSF57903. FYVE_PHD_ZnF. 1 hit. |
| 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 | |
| SOURCE | Search... |
Entry information
| Entry name | ANFY1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P2R3 Secondary accession number(s): A8KA65, Q5RKV4, Q9ULG5 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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. | ||||||||
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 |

Clusters with