Q6ULP2 (AFTIN_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 78.
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: Aftiphilin | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference 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. |
| 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. The sequence BAB13930.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB14949.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Transport |
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference 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 PubMed 15758025. Source: UniProtKB cytosolInferred from direct assay PubMed 15758025. Source: UniProtKB nucleusInferred from direct assay. Source: HPA |
| Molecular_function | clathrin binding Inferred from direct assay PubMed 15758025. 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 Ref.8 | ||||||
| Modified residue | 617 | 1 | Phosphothreonine Ref.6 Ref.7 | ||||||
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. Corresponds to variant rs35986567 [ dbSNP | Ensembl ]. | VAR_056728 | |||||
| Natural variant | 301 | 1 | E → K. Corresponds to variant rs3770740 [ dbSNP | Ensembl ]. | VAR_056729 | |||||
| Natural variant | 550 | 1 | N → S. Corresponds to variant rs3770739 [ dbSNP | Ensembl ]. | 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.5 | ||||||
| Sequence conflict | 905 | 1 | I → V in AAH47529. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Amygdala. |
| [4] | 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 724-937 (ISOFORM 5). Tissue: Brain and Lung. |
| [6] | "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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-617, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-617, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [8] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-151, MASS SPECTROMETRY. Tissue: Cervix 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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. CH471053 Genomic DNA. Translation: EAW99938.1. CH471053 Genomic DNA. Translation: EAW99941.1. BC022247 mRNA. Translation: AAH22247.1. Sequence problems. BC047529 mRNA. Translation: AAH47529.1. |
| IPI | IPI00329005. IPI00429547. IPI00434952. IPI00554475. IPI00554740. |
| RefSeq | NP_001002243.1. NM_001002243.2. NP_060127.3. NM_017657.4. NP_982261.2. NM_203437.3. |
| UniGene | Hs.655167. |
3D structure databases | |
| ProteinModelPortal | Q6ULP2. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q6ULP2. 4 interactions. |
| STRING | 9606.ENSP00000238855. |
PTM databases | |
| PhosphoSite | Q6ULP2. |
Polymorphism databases | |
| DMDM | 62286617. |
Proteomic databases | |
| PaxDb | Q6ULP2. |
| PRIDE | Q6ULP2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000238855; ENSP00000238855; ENSG00000119844. ENST00000238856; ENSP00000238856; ENSG00000119844. ENST00000409933; ENSP00000387071; ENSG00000119844. ENST00000422803; ENSP00000397726; ENSG00000119844. |
| GeneID | 54812. |
| KEGG | hsa:54812. |
| UCSC | uc002scz.3. human. uc002sda.3. human. uc002sdb.3. human. uc002sdc.3. human. |
Organism-specific databases | |
| CTD | 54812. |
| GeneCards | GC02P064751. |
| HGNC | HGNC:25951. AFTPH. |
| HPA | HPA034991. |
| neXtProt | NX_Q6ULP2. |
| PharmGKB | PA145149871. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG40359. |
| HOVERGEN | HBG050464. |
| InParanoid | Q6ULP2. |
| OMA | NDFVTCN. |
Gene expression databases | |
| ArrayExpress | Q6ULP2. |
| Bgee | Q6ULP2. |
| CleanEx | HS_AFTPH. |
| Genevestigator | Q6ULP2. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| ChiTaRS | AFTPH. human. |
| GenomeRNAi | 54812. |
| NextBio | 57537. |
Entry information
| Entry name | AFTIN_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6ULP2 Secondary accession number(s): D6W5E9 Q9NXS4 | ||||||||
| 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 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 |

Clusters with
