Reviewed,
UniProtKB/Swiss-Prot Q6ULP2 (AFTIN_HUMAN)
Last modified
November 24, 2009.
Version 54.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Aftiphilin | ||||
| Gene names |
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| 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 | 937 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May play a role in membrane trafficking. |
| Subunit structure | Interacts with GGA1, GGA3, AP1G1 and AP1G2 via their GAE domain. Ref.1 |
| Subcellular location | |
| Domain | The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself By similarity. |
| Sequence caution | The sequence AAH22247.1 differs from that shown. Reason: Frameshift at position 919. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Transport |
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | protein transport Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | AP-1 adaptor complex Inferred from direct assay. Source: UniProtKB cytosolInferred from direct assay. Source: UniProtKB |
| Molecular function | clathrin binding Inferred from direct assay. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6ULP2-1) 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: Q6ULP2-2) The sequence of this isoform differs from the canonical sequence as follows: 819-846: Missing. | ||||||
| Isoform 3 (identifier: Q6ULP2-3) The sequence of this isoform differs from the canonical sequence as follows: 819-820: AS → GT 821-937: Missing. | ||||||
| Note: May be due to intron retention. No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q6ULP2-4) The sequence of this isoform differs from the canonical sequence as follows: 888-888: Missing. | ||||||
| Isoform 5 (identifier: Q6ULP2-5) The sequence of this isoform differs from the canonical sequence as follows: 819-846: Missing. 888-888: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 937 | 937 | Aftiphilin | PRO_0000064488 | |||||
Regions | |||||||||
| Region | 825 – 829 | 5 | Clathrin-binding Potential | ||||||
| Motif | 28 – 31 | 4 | WXXF motif 1 | ||||||
| Motif | 432 – 435 | 4 | WXXF motif 2 | ||||||
| Motif | 436 – 438 | 3 | WXXF motif 3 (partial) | ||||||
| Motif | 478 – 481 | 4 | WXXF motif 4 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 151 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 517 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 522 | 1 | Phosphothreonine Ref.6 | ||||||
| Modified residue | 617 | 1 | Phosphothreonine Ref.5 | ||||||
Natural variations | |||||||||
| Alternative sequence | 819 – 846 | 28 | Missing in isoform 2 and isoform 5. | VSP_013238 | |||||
| Alternative sequence | 819 – 820 | 2 | AS → GT in isoform 3. | VSP_013239 | |||||
| Alternative sequence | 821 – 937 | 117 | Missing in isoform 3. | VSP_013240 | |||||
| Alternative sequence | 888 | 1 | Missing in isoform 4 and isoform 5. | VSP_013241 | |||||
| Natural variant | 233 | 1 | D → G: dbSNP rs35986567. | VAR_056728 | |||||
| Natural variant | 301 | 1 | E → K: dbSNP rs3770740. | VAR_056729 | |||||
| Natural variant | 550 | 1 | N → S: dbSNP rs3770739. | VAR_056730 | |||||
Experimental info | |||||||||
| Sequence conflict | 734 | 1 | D → G in BAB13930. Ref.2 | ||||||
| Sequence conflict | 850 | 1 | P → L in AAR14726. Ref.1 | ||||||
| Sequence conflict | 895 | 1 | E → G in AAH22247. Ref.4 | ||||||
| Sequence conflict | 905 | 1 | I → V in AAH47529. Ref.4 | ||||||
Sequences
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References
| [1] | "Definition of the consensus motif recognized by gamma-adaptin ear domains." Mattera R., Ritter B., Sidhu S.S., McPherson P.S., Bonifacino J.S. J. Biol. Chem. 279:8018-8028(2004) [PubMed: 14665628] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), SUBCELLULAR LOCATION, INTERACTION WITH GGA1; GGA3; AP1G1 AND AP1G2. Tissue: Brain. |
| [2] | "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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 347-937 (ISOFORM 1). Tissue: Colon and Embryo. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Amygdala. |
| [4] | "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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 724-937 (ISOFORM 5). Tissue: Brain and Lung. |
| [5] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-617, MASS SPECTROMETRY. Tissue: Epithelium. |
| [6] | "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-517 AND THR-522, MASS SPECTROMETRY. |
| [7] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [8] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-617, MASS SPECTROMETRY. Tissue: T-cell. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AY367088 mRNA. Translation: AAR14726.1. AK000087 mRNA. Translation: BAA90936.1. AK021899 mRNA. Translation: BAB13930.1. Different initiation. AK024658 mRNA. Translation: BAB14949.1. Different initiation. AL833962 mRNA. Translation: CAE46209.1. BC022247 mRNA. Translation: AAH22247.1. Sequence problems. BC047529 mRNA. Translation: AAH47529.1. | |
| IPI | IPI00329005. IPI00429547. IPI00434952. IPI00554475. IPI00554740. |
| RefSeq | NP_001002243.1. NP_060127.3. NP_982261.2. |
| UniGene | Hs.655167 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q6ULP2. |
PTM databases | |
| PhosphoSite | Q6ULP2. |
Genome annotation databases | |
| Ensembl | ENST00000422803; ENSP00000397726; ENSG00000119844; Homo sapiens. [Genome view] |
| GeneID | 54812. |
| KEGG | hsa:54812. |
| UCSC | uc002scz.1. human. uc002sda.1. human. uc002sdb.1. human. uc002sdc.1. human. |
Organism-specific databases | |
| CTD | 54812. |
| GeneCards | GC02P064604. |
| H-InvDB | HIX0002101. HIX0030625. |
| HGNC | HGNC:25951. AFTPH. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q6ULP2. |
| OMA | DFVTCND |
| OrthoDB | EOG9FFGN5 |
Gene expression databases | |
| ArrayExpress | Q6ULP2. |
| Bgee | Q6ULP2. |
| CleanEx | HS_AFTPH. |
| Genevestigator | Q6ULP2. |
Family and domain databases | |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 57537. |
Entry information
| Entry name | AFTIN_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6ULP2 Secondary accession number(s): Q6ZM66 Q9NXS4 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |

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