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Protein

Aftiphilin

Gene

AFTPH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May play a role in membrane trafficking.

GO - Molecular functioni

  • clathrin binding Source: UniProtKB

GO - Biological processi

  • intracellular transport Source: GO_Central
  • protein transport Source: UniProtKB-KW

Keywordsi

Biological processProtein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Aftiphilin
Gene namesi
Name:AFTPH
Synonyms:AFTH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000119844.15
HGNCiHGNC:25951 AFTPH
neXtProtiNX_Q6ULP2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi54812
OpenTargetsiENSG00000119844
PharmGKBiPA145149871

Polymorphism and mutation databases

BioMutaiAFTPH
DMDMi62286617

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000644881 – 936AftiphilinAdd BLAST936

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei151PhosphoserineCombined sources1
Modified residuei395PhosphoserineBy similarity1
Modified residuei518PhosphoserineCombined sources1
Modified residuei617PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6ULP2
MaxQBiQ6ULP2
PaxDbiQ6ULP2
PeptideAtlasiQ6ULP2
PRIDEiQ6ULP2
ProteomicsDBi67412

PTM databases

iPTMnetiQ6ULP2
PhosphoSitePlusiQ6ULP2

Expressioni

Gene expression databases

BgeeiENSG00000119844 Expressed in 239 organ(s), highest expression level in metanephros
CleanExiHS_AFTPH
ExpressionAtlasiQ6ULP2 baseline and differential
GenevisibleiQ6ULP2 HS

Organism-specific databases

HPAiHPA034990
HPA034991

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120169, 11 interactors
ELMiQ6ULP2
IntActiQ6ULP2, 8 interactors
MINTiQ6ULP2
STRINGi9606.ENSP00000238855

Structurei

3D structure databases

ProteinModelPortaliQ6ULP2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni825 – 829Clathrin-bindingSequence analysis5

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi28 – 31WXXF motif 14
Motifi432 – 435WXXF motif 24
Motifi436 – 438WXXF motif 3 (partial)3
Motifi478 – 481WXXF motif 44

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).By similarity

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IIS8 Eukaryota
ENOG4111EYY LUCA
GeneTreeiENSGT00390000017835
HOVERGENiHBG050464
InParanoidiQ6ULP2
OMAiHRTDEKI
OrthoDBiEOG091G07VV
PhylomeDBiQ6ULP2
TreeFamiTF331532

Family and domain databases

InterProiView protein in InterPro
IPR029205 Clathrin-bd
PfamiView protein in Pfam
PF15045 Clathrin_bdg, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket
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
        10         20         30         40         50
MEPDIIRMYS SSPPPLDNGA EDDDDDEFGE FGGFSEVSPS GVGFVDFDTP
60 70 80 90 100
DYTRPKEEFV PSNHFMPIHE FSENVDSLTS FKSIKNGNDK DITAELSAPV
110 120 130 140 150
KGQSDVLLST TSKEIISSEM LATSIDGMER PGNLNKVVEQ RQNVGTLESF
160 170 180 190 200
SPGDFRTNMN VVHQNKQLES CNGEKPPCLE ILTNGFAVLE TVNPQGTDDL
210 220 230 240 250
DNVADSKGRK PLSTHSTEYN LDSVPSPAEE FADFATFSKK ERIQLEEIEC
260 270 280 290 300
AVLNDREALT IRENNKINRV NELNSVKEVA LGRSLDNKGD TDGEDQVCVS
310 320 330 340 350
EISIVTNRGF SVEKQGLPTL QQDEFLQSGV QSKAWSLVDS ADNSEAIRRE
360 370 380 390 400
QCKTEEKLDL LTSKCAHLCM DSVKTSDDEV GSPKEESRKF TNFQSPNIDP
410 420 430 440 450
TEENDLDDSL SVKNGDSSND FVTCNDINED DFGDFGDFGS ASGSTPPFVT
460 470 480 490 500
GTQDSMSDAT FEESSEHFPH FSEPGDDFGE FGDINAVSCQ EETILTKSDL
510 520 530 540 550
KQTSDNLSEE CQLARKSSGT GTEPVAKLKN GQEGEIGHFD SVPNIQDDCN
560 570 580 590 600
GFQDSDDFAD FSSAGPSQVV DWNAFEDEQK DSCSWAAFGD QQATESHHRK
610 620 630 640 650
EAWQSHRTDE NIDTPGTPKT HSVPSATSKG AVASGHLQES ATSVQTALLN
660 670 680 690 700
RLERIFEACF PSILVPDAEE EVTSLKHLLE TSTLPIKTRE ALPESGELLD
710 720 730 740 750
VWTELQDIHD AHGLRYQWGG SHSNKKLLSS LGIDTRNILF TGNKKQPVIV
760 770 780 790 800
PMYAAGLGML EPTKEPLKPL SAAEKIASIG QTATMSPDMN TCTSDQFQES
810 820 830 840 850
LPPVQFDWSS SGLTNPLDAS GGSTLLNLDF FGPVDDSSSS SSTTIPGVDP
860 870 880 890 900
ELYELTTSKL EISTSSLKVT DAFARLMSTV EKTSTSTRKP KREEHLSEEA
910 920 930
IKVIAGLPDL TFMHAKVLMF PATLTPSTSS QEKADG
Length:936
Mass (Da):102,113
Last modified:March 28, 2018 - v3
Checksum:i7F84B4D6890BCDF7
GO
Isoform 2 (identifier: Q6ULP2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-846: Missing.
     887-887: T → TS

Show »
Length:909
Mass (Da):99,458
Checksum:iB931F39110FDBB8E
GO
Isoform 3 (identifier: Q6ULP2-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-820: AS → GT
     821-936: Missing.

Note: May be due to intron retention. No experimental confirmation available.Curated
Show »
Length:820
Mass (Da):89,720
Checksum:i35A9CF525DDF54AF
GO
Isoform 4 (identifier: Q6ULP2-8) [UniParc]FASTAAdd to basket

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

Show »
Length:908
Mass (Da):99,371
Checksum:i028209277B9C75A4
GO
Isoform 5 (identifier: Q6ULP2-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     887-887: T → TS

Show »
Length:937
Mass (Da):102,200
Checksum:iCC9CF52CE10F2C36
GO

Sequence cautioni

The sequence AAH22247 differs from that shown. Reason: Frameshift at position 918.Curated
The sequence AAH22247 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB13930 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14949 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti705L → Q in BAB14949 (PubMed:14702039).Curated1
Sequence conflicti734D → G in BAB13930 (PubMed:14702039).Curated1
Sequence conflicti850P → L in AAR14726 (PubMed:14665628).Curated1
Sequence conflicti894E → G in AAH22247 (PubMed:15489334).Curated1
Sequence conflicti904I → V in AAH47529 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056728233D → G. Corresponds to variant dbSNP:rs35986567Ensembl.1
Natural variantiVAR_056729301E → K. Corresponds to variant dbSNP:rs3770740Ensembl.1
Natural variantiVAR_056730550N → S. Corresponds to variant dbSNP:rs3770739Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_059492819 – 846Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST28
Alternative sequenceiVSP_059493819 – 820AS → GT in isoform 3. 1 Publication2
Alternative sequenceiVSP_059494821 – 936Missing in isoform 3. 1 PublicationAdd BLAST116
Alternative sequenceiVSP_059495887T → TS in isoform 2 and isoform 5. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 [Q6ULP2-6]
CCDS46303.1 [Q6ULP2-1]
RefSeqiNP_001002243.1, NM_001002243.2 [Q6ULP2-8]
NP_060127.3, NM_017657.4 [Q6ULP2-6]
NP_982261.2, NM_203437.3 [Q6ULP2-1]
XP_005264437.1, XM_005264380.1 [Q6ULP2-9]
UniGeneiHs.655167

Genome annotation databases

EnsembliENST00000238855; ENSP00000238855; ENSG00000119844 [Q6ULP2-1]
ENST00000238856; ENSP00000238856; ENSG00000119844 [Q6ULP2-6]
ENST00000409933; ENSP00000387071; ENSG00000119844 [Q6ULP2-1]
GeneIDi54812
KEGGihsa:54812
UCSCiuc002scz.4 human [Q6ULP2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 [Q6ULP2-6]
CCDS46303.1 [Q6ULP2-1]
RefSeqiNP_001002243.1, NM_001002243.2 [Q6ULP2-8]
NP_060127.3, NM_017657.4 [Q6ULP2-6]
NP_982261.2, NM_203437.3 [Q6ULP2-1]
XP_005264437.1, XM_005264380.1 [Q6ULP2-9]
UniGeneiHs.655167

3D structure databases

ProteinModelPortaliQ6ULP2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120169, 11 interactors
ELMiQ6ULP2
IntActiQ6ULP2, 8 interactors
MINTiQ6ULP2
STRINGi9606.ENSP00000238855

PTM databases

iPTMnetiQ6ULP2
PhosphoSitePlusiQ6ULP2

Polymorphism and mutation databases

BioMutaiAFTPH
DMDMi62286617

Proteomic databases

EPDiQ6ULP2
MaxQBiQ6ULP2
PaxDbiQ6ULP2
PeptideAtlasiQ6ULP2
PRIDEiQ6ULP2
ProteomicsDBi67412

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000238855; ENSP00000238855; ENSG00000119844 [Q6ULP2-1]
ENST00000238856; ENSP00000238856; ENSG00000119844 [Q6ULP2-6]
ENST00000409933; ENSP00000387071; ENSG00000119844 [Q6ULP2-1]
GeneIDi54812
KEGGihsa:54812
UCSCiuc002scz.4 human [Q6ULP2-1]

Organism-specific databases

CTDi54812
DisGeNETi54812
EuPathDBiHostDB:ENSG00000119844.15
GeneCardsiAFTPH
HGNCiHGNC:25951 AFTPH
HPAiHPA034990
HPA034991
neXtProtiNX_Q6ULP2
OpenTargetsiENSG00000119844
PharmGKBiPA145149871
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIS8 Eukaryota
ENOG4111EYY LUCA
GeneTreeiENSGT00390000017835
HOVERGENiHBG050464
InParanoidiQ6ULP2
OMAiHRTDEKI
OrthoDBiEOG091G07VV
PhylomeDBiQ6ULP2
TreeFamiTF331532

Miscellaneous databases

ChiTaRSiAFTPH human
GeneWikiiAFTPH
GenomeRNAii54812
PROiPR:Q6ULP2

Gene expression databases

BgeeiENSG00000119844 Expressed in 239 organ(s), highest expression level in metanephros
CleanExiHS_AFTPH
ExpressionAtlasiQ6ULP2 baseline and differential
GenevisibleiQ6ULP2 HS

Family and domain databases

InterProiView protein in InterPro
IPR029205 Clathrin-bd
PfamiView protein in Pfam
PF15045 Clathrin_bdg, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAFTIN_HUMAN
AccessioniPrimary (citable) accession number: Q6ULP2
Secondary accession number(s): D6W5E9
, Q6ZM66, Q86VW3, Q8TCF3, Q9H7E3, Q9HAB9, Q9NXS4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: March 28, 2018
Last modified: November 7, 2018
This is version 121 of the entry and version 3 of the sequence. See 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
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