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Q6ULP2 (AFTIN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 86. 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:
Aftiphilin
Gene names
Name:AFTPH
Synonyms:AFTH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length937 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Cytoplasm. Note: Colocalizes with AP1G1 and clathrin. Ref.1

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 processProtein transport
Transport
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processprotein transport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentAP-1 adaptor complex

Inferred from direct assay PubMed 15758025. Source: UniProtKB

cytosol

Inferred from direct assay PubMed 15758025. Source: UniProtKB

   Molecular_functionclathrin 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 937937Aftiphilin
PRO_0000064488

Regions

Region825 – 8295Clathrin-binding Potential
Motif28 – 314WXXF motif 1
Motif432 – 4354WXXF motif 2
Motif436 – 4383WXXF motif 3 (partial)
Motif478 – 4814WXXF motif 4

Amino acid modifications

Modified residue1511Phosphoserine Ref.8
Modified residue3951Phosphoserine By similarity
Modified residue6171Phosphothreonine Ref.6 Ref.7

Natural variations

Alternative sequence819 – 84628Missing in isoform 2 and isoform 5.
VSP_013238
Alternative sequence819 – 8202AS → GT in isoform 3.
VSP_013239
Alternative sequence821 – 937117Missing in isoform 3.
VSP_013240
Alternative sequence8881Missing in isoform 4 and isoform 5.
VSP_013241
Natural variant2331D → G.
Corresponds to variant rs35986567 [ dbSNP | Ensembl ].
VAR_056728
Natural variant3011E → K.
Corresponds to variant rs3770740 [ dbSNP | Ensembl ].
VAR_056729
Natural variant5501N → S.
Corresponds to variant rs3770739 [ dbSNP | Ensembl ].
VAR_056730

Experimental info

Sequence conflict7341D → G in BAB13930. Ref.2
Sequence conflict8501P → L in AAR14726. Ref.1
Sequence conflict8951E → G in AAH22247. Ref.5
Sequence conflict9051I → V in AAH47529. Ref.5

Sequences

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

Last modified March 29, 2005. Version 2.
Checksum: CC9CF52CE10F2C36

FASTA937102,200
        10         20         30         40         50         60 
MEPDIIRMYS SSPPPLDNGA EDDDDDEFGE FGGFSEVSPS GVGFVDFDTP DYTRPKEEFV 

        70         80         90        100        110        120 
PSNHFMPIHE FSENVDSLTS FKSIKNGNDK DITAELSAPV KGQSDVLLST TSKEIISSEM 

       130        140        150        160        170        180 
LATSIDGMER PGNLNKVVEQ RQNVGTLESF SPGDFRTNMN VVHQNKQLES CNGEKPPCLE 

       190        200        210        220        230        240 
ILTNGFAVLE TVNPQGTDDL DNVADSKGRK PLSTHSTEYN LDSVPSPAEE FADFATFSKK 

       250        260        270        280        290        300 
ERIQLEEIEC AVLNDREALT IRENNKINRV NELNSVKEVA LGRSLDNKGD TDGEDQVCVS 

       310        320        330        340        350        360 
EISIVTNRGF SVEKQGLPTL QQDEFLQSGV QSKAWSLVDS ADNSEAIRRE QCKTEEKLDL 

       370        380        390        400        410        420 
LTSKCAHLCM DSVKTSDDEV GSPKEESRKF TNFQSPNIDP TEENDLDDSL SVKNGDSSND 

       430        440        450        460        470        480 
FVTCNDINED DFGDFGDFGS ASGSTPPFVT GTQDSMSDAT FEESSEHFPH FSEPGDDFGE 

       490        500        510        520        530        540 
FGDINAVSCQ EETILTKSDL KQTSDNLSEE CQLARKSSGT GTEPVAKLKN GQEGEIGHFD 

       550        560        570        580        590        600 
SVPNIQDDCN GFQDSDDFAD FSSAGPSQVV DWNAFEDEQK DSCSWAAFGD QQATESHHRK 

       610        620        630        640        650        660 
EAWQSHRTDE NIDTPGTPKT HSVPSATSKG AVASGHLQES ATSVQTALLN RLERIFEACF 

       670        680        690        700        710        720 
PSILVPDAEE EVTSLKHLLE TSTLPIKTRE ALPESGELLD VWTELQDIHD AHGLRYQWGG 

       730        740        750        760        770        780 
SHSNKKLLSS LGIDTRNILF TGNKKQPVIV PMYAAGLGML EPTKEPLKPL SAAEKIASIG 

       790        800        810        820        830        840 
QTATMSPDMN TCTSDQFQES LPPVQFDWSS SGLTNPLDAS GGSTLLNLDF FGPVDDSSSS 

       850        860        870        880        890        900 
SSTTIPGVDP ELYELTTSKL EISTSSLKVT DAFARLMSTV EKTSTSTSRK PKREEHLSEE 

       910        920        930 
AIKVIAGLPD LTFMHAKVLM FPATLTPSTS SQEKADG 

« Hide

Isoform 2 [UniParc].

Checksum: B931F39110FDBB8E
Show »

FASTA90999,458
Isoform 3 [UniParc].

Checksum: 35A9CF525DDF54AF
Show »

FASTA82089,720
Isoform 4 [UniParc].

Checksum: 7F84B4D6890BCDF7
Show »

FASTA936102,113
Isoform 5 [UniParc].

Checksum: 028209277B9C75A4
Show »

FASTA90899,371

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. 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] [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. 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 (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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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.
RefSeqNP_001002243.1. NM_001002243.2.
NP_060127.3. NM_017657.4.
NP_982261.2. NM_203437.3.
XP_005264437.1. XM_005264380.1.
UniGeneHs.655167.

3D structure databases

ProteinModelPortalQ6ULP2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120169. 5 interactions.
IntActQ6ULP2. 5 interactions.
MINTMINT-5005262.
STRING9606.ENSP00000238855.

PTM databases

PhosphoSiteQ6ULP2.

Polymorphism databases

DMDM62286617.

Proteomic databases

PaxDbQ6ULP2.
PRIDEQ6ULP2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000238855; ENSP00000238855; ENSG00000119844. [Q6ULP2-4]
ENST00000238856; ENSP00000238856; ENSG00000119844. [Q6ULP2-2]
ENST00000409933; ENSP00000387071; ENSG00000119844. [Q6ULP2-4]
ENST00000422803; ENSP00000397726; ENSG00000119844. [Q6ULP2-1]
GeneID54812.
KEGGhsa:54812.
UCSCuc002scz.3. human. [Q6ULP2-4]
uc002sda.3. human. [Q6ULP2-5]
uc002sdb.3. human. [Q6ULP2-2]
uc002sdc.3. human. [Q6ULP2-1]

Organism-specific databases

CTD54812.
GeneCardsGC02P064751.
HGNCHGNC:25951. AFTPH.
HPAHPA034991.
neXtProtNX_Q6ULP2.
PharmGKBPA145149871.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40359.
HOVERGENHBG050464.
InParanoidQ6ULP2.
OMAETVNPQG.
OrthoDBEOG779NX4.
PhylomeDBQ6ULP2.
TreeFamTF331532.

Gene expression databases

ArrayExpressQ6ULP2.
BgeeQ6ULP2.
CleanExHS_AFTPH.
GenevestigatorQ6ULP2.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSAFTPH. human.
GeneWikiAFTPH.
GenomeRNAi54812.
NextBio57537.
PROQ6ULP2.

Entry information

Entry nameAFTIN_HUMAN
AccessionPrimary (citable) accession number: Q6ULP2
Secondary accession number(s): D6W5E9 expand/collapse secondary AC list , Q6ZM66, Q86VW3, Q8TCF3, Q9H7E3, Q9HAB9, Q9NXS4
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: March 29, 2005
Last modified: April 16, 2014
This is version 86 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM