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Q6ULP2

- AFTIN_HUMAN

UniProt

Q6ULP2 - AFTIN_HUMAN

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Protein
Aftiphilin
Gene
AFTPH, AFTH
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May play a role in membrane trafficking.

GO - Molecular functioni

  1. clathrin binding Source: UniProtKB

GO - Biological processi

  1. protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Aftiphilin
Gene namesi
Name:AFTPH
Synonyms:AFTH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:25951. AFTPH.

Subcellular locationi

Cytoplasm
Note: Colocalizes with AP1G1 and clathrin.1 Publication

GO - Cellular componenti

  1. AP-1 adaptor complex Source: UniProtKB
  2. cytosol Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145149871.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 937937Aftiphilin
PRO_0000064488Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei151 – 1511Phosphoserine1 Publication
Modified residuei395 – 3951Phosphoserine By similarity
Modified residuei617 – 6171Phosphothreonine2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ6ULP2.
PaxDbiQ6ULP2.
PRIDEiQ6ULP2.

PTM databases

PhosphoSiteiQ6ULP2.

Expressioni

Gene expression databases

ArrayExpressiQ6ULP2.
BgeeiQ6ULP2.
CleanExiHS_AFTPH.
GenevestigatoriQ6ULP2.

Organism-specific databases

HPAiHPA034991.

Interactioni

Subunit structurei

Interacts with GGA1, GGA3, AP1G1 and AP1G2 via their GAE domain.1 Publication

Protein-protein interaction databases

BioGridi120169. 5 interactions.
IntActiQ6ULP2. 5 interactions.
MINTiMINT-5005262.
STRINGi9606.ENSP00000238855.

Structurei

3D structure databases

ProteinModelPortaliQ6ULP2.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni825 – 8295Clathrin-binding Reviewed prediction

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi28 – 314WXXF motif 1
Motifi432 – 4354WXXF motif 2
Motifi436 – 4383WXXF motif 3 (partial)
Motifi478 – 4814WXXF motif 4

Domaini

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.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG40359.
HOVERGENiHBG050464.
InParanoidiQ6ULP2.
OMAiETVNPQG.
OrthoDBiEOG779NX4.
PhylomeDBiQ6ULP2.
TreeFamiTF331532.

Family and domain databases

InterProiIPR029205. Clathrin-bd.
[Graphical view]
PfamiPF15045. Clathrin_bdg. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6ULP2-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MEPDIIRMYS SSPPPLDNGA EDDDDDEFGE FGGFSEVSPS GVGFVDFDTP    50
DYTRPKEEFV PSNHFMPIHE FSENVDSLTS FKSIKNGNDK DITAELSAPV 100
KGQSDVLLST TSKEIISSEM LATSIDGMER PGNLNKVVEQ RQNVGTLESF 150
SPGDFRTNMN VVHQNKQLES CNGEKPPCLE ILTNGFAVLE TVNPQGTDDL 200
DNVADSKGRK PLSTHSTEYN LDSVPSPAEE FADFATFSKK ERIQLEEIEC 250
AVLNDREALT IRENNKINRV NELNSVKEVA LGRSLDNKGD TDGEDQVCVS 300
EISIVTNRGF SVEKQGLPTL QQDEFLQSGV QSKAWSLVDS ADNSEAIRRE 350
QCKTEEKLDL LTSKCAHLCM DSVKTSDDEV GSPKEESRKF TNFQSPNIDP 400
TEENDLDDSL SVKNGDSSND FVTCNDINED DFGDFGDFGS ASGSTPPFVT 450
GTQDSMSDAT FEESSEHFPH FSEPGDDFGE FGDINAVSCQ EETILTKSDL 500
KQTSDNLSEE CQLARKSSGT GTEPVAKLKN GQEGEIGHFD SVPNIQDDCN 550
GFQDSDDFAD FSSAGPSQVV DWNAFEDEQK DSCSWAAFGD QQATESHHRK 600
EAWQSHRTDE NIDTPGTPKT HSVPSATSKG AVASGHLQES ATSVQTALLN 650
RLERIFEACF PSILVPDAEE EVTSLKHLLE TSTLPIKTRE ALPESGELLD 700
VWTELQDIHD AHGLRYQWGG SHSNKKLLSS LGIDTRNILF TGNKKQPVIV 750
PMYAAGLGML EPTKEPLKPL SAAEKIASIG QTATMSPDMN TCTSDQFQES 800
LPPVQFDWSS SGLTNPLDAS GGSTLLNLDF FGPVDDSSSS SSTTIPGVDP 850
ELYELTTSKL EISTSSLKVT DAFARLMSTV EKTSTSTSRK PKREEHLSEE 900
AIKVIAGLPD LTFMHAKVLM FPATLTPSTS SQEKADG 937
Length:937
Mass (Da):102,200
Last modified:March 29, 2005 - v2
Checksum:iCC9CF52CE10F2C36
GO
Isoform 2 (identifier: Q6ULP2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-846: Missing.

Show »
Length:909
Mass (Da):99,458
Checksum:iB931F39110FDBB8E
GO
Isoform 3 (identifier: Q6ULP2-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:820
Mass (Da):89,720
Checksum:i35A9CF525DDF54AF
GO
Isoform 4 (identifier: Q6ULP2-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     888-888: Missing.

Show »
Length:936
Mass (Da):102,113
Checksum:i7F84B4D6890BCDF7
GO
Isoform 5 (identifier: Q6ULP2-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-846: Missing.
     888-888: Missing.

Show »
Length:908
Mass (Da):99,371
Checksum:i028209277B9C75A4
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti233 – 2331D → G.
Corresponds to variant rs35986567 [ dbSNP | Ensembl ].
VAR_056728
Natural varianti301 – 3011E → K.
Corresponds to variant rs3770740 [ dbSNP | Ensembl ].
VAR_056729
Natural varianti550 – 5501N → S.
Corresponds to variant rs3770739 [ dbSNP | Ensembl ].
VAR_056730

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei819 – 84628Missing in isoform 2 and isoform 5.
VSP_013238Add
BLAST
Alternative sequencei819 – 8202AS → GT in isoform 3.
VSP_013239
Alternative sequencei821 – 937117Missing in isoform 3.
VSP_013240Add
BLAST
Alternative sequencei888 – 8881Missing in isoform 4 and isoform 5.
VSP_013241

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti734 – 7341D → G in BAB13930. 1 Publication
Sequence conflicti850 – 8501P → L in AAR14726. 1 Publication
Sequence conflicti895 – 8951E → G in AAH22247. 1 Publication
Sequence conflicti905 – 9051I → V in AAH47529. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1878.1. [Q6ULP2-2]
CCDS46303.1. [Q6ULP2-4]
RefSeqiNP_001002243.1. NM_001002243.2. [Q6ULP2-5]
NP_060127.3. NM_017657.4. [Q6ULP2-2]
NP_982261.2. NM_203437.3. [Q6ULP2-4]
XP_005264437.1. XM_005264380.1. [Q6ULP2-1]
UniGeneiHs.655167.

Genome annotation databases

EnsembliENST00000238855; ENSP00000238855; ENSG00000119844. [Q6ULP2-4]
ENST00000238856; ENSP00000238856; ENSG00000119844. [Q6ULP2-2]
ENST00000409933; ENSP00000387071; ENSG00000119844. [Q6ULP2-4]
ENST00000422803; ENSP00000397726; ENSG00000119844. [Q6ULP2-1]
GeneIDi54812.
KEGGihsa:54812.
UCSCiuc002scz.3. human. [Q6ULP2-4]
uc002sda.3. human. [Q6ULP2-5]
uc002sdb.3. human. [Q6ULP2-2]
uc002sdc.3. human. [Q6ULP2-1]

Polymorphism databases

DMDMi62286617.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS1878.1. [Q6ULP2-2 ]
CCDS46303.1. [Q6ULP2-4 ]
RefSeqi NP_001002243.1. NM_001002243.2. [Q6ULP2-5 ]
NP_060127.3. NM_017657.4. [Q6ULP2-2 ]
NP_982261.2. NM_203437.3. [Q6ULP2-4 ]
XP_005264437.1. XM_005264380.1. [Q6ULP2-1 ]
UniGenei Hs.655167.

3D structure databases

ProteinModelPortali Q6ULP2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120169. 5 interactions.
IntActi Q6ULP2. 5 interactions.
MINTi MINT-5005262.
STRINGi 9606.ENSP00000238855.

PTM databases

PhosphoSitei Q6ULP2.

Polymorphism databases

DMDMi 62286617.

Proteomic databases

MaxQBi Q6ULP2.
PaxDbi Q6ULP2.
PRIDEi Q6ULP2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000238855 ; ENSP00000238855 ; ENSG00000119844 . [Q6ULP2-4 ]
ENST00000238856 ; ENSP00000238856 ; ENSG00000119844 . [Q6ULP2-2 ]
ENST00000409933 ; ENSP00000387071 ; ENSG00000119844 . [Q6ULP2-4 ]
ENST00000422803 ; ENSP00000397726 ; ENSG00000119844 . [Q6ULP2-1 ]
GeneIDi 54812.
KEGGi hsa:54812.
UCSCi uc002scz.3. human. [Q6ULP2-4 ]
uc002sda.3. human. [Q6ULP2-5 ]
uc002sdb.3. human. [Q6ULP2-2 ]
uc002sdc.3. human. [Q6ULP2-1 ]

Organism-specific databases

CTDi 54812.
GeneCardsi GC02P064751.
HGNCi HGNC:25951. AFTPH.
HPAi HPA034991.
neXtProti NX_Q6ULP2.
PharmGKBi PA145149871.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40359.
HOVERGENi HBG050464.
InParanoidi Q6ULP2.
OMAi ETVNPQG.
OrthoDBi EOG779NX4.
PhylomeDBi Q6ULP2.
TreeFami TF331532.

Miscellaneous databases

ChiTaRSi AFTPH. human.
GeneWikii AFTPH.
GenomeRNAii 54812.
NextBioi 57537.
PROi Q6ULP2.

Gene expression databases

ArrayExpressi Q6ULP2.
Bgeei Q6ULP2.
CleanExi HS_AFTPH.
Genevestigatori Q6ULP2.

Family and domain databases

InterProi IPR029205. Clathrin-bd.
[Graphical view ]
Pfami PF15045. Clathrin_bdg. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Amygdala.
  4. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiAFTIN_HUMAN
AccessioniPrimary (citable) accession number: Q6ULP2
Secondary accession number(s): D6W5E9
, Q6ZM66, Q86VW3, Q8TCF3, Q9H7E3, Q9HAB9, Q9NXS4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: March 29, 2005
Last modified: July 9, 2014
This is version 89 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

External Data

Dasty 3

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