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Entry version 138 (07 Apr 2021)
Sequence version 3 (28 Mar 2018)
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Protein

Aftiphilin

Gene

AFTPH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of clathrin-coated vesicles (PubMed:15758025). Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025).1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • clathrin binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6ULP2

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Aftiphilin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AFTPH
Synonyms:AFTH
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25951, AFTPH

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ULP2

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000119844.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi716 – 718YQW → SQS: Abolishes the interaction with CLTCL1/Clathrin. 1 Publication3

Organism-specific databases

DisGeNET

More...
DisGeNETi
54812

Open Targets

More...
OpenTargetsi
ENSG00000119844

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145149871

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6ULP2, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AFTPH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
62286617

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000644881 – 936AftiphilinAdd BLAST936

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei151PhosphoserineCombined sources1
Modified residuei395PhosphoserineBy similarity1
Modified residuei518PhosphoserineCombined sources1
Modified residuei617PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6ULP2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q6ULP2

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q6ULP2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6ULP2

PeptideAtlas

More...
PeptideAtlasi
Q6ULP2

PRoteomics IDEntifications database

More...
PRIDEi
Q6ULP2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
67412 [Q6ULP2-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ULP2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6ULP2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000119844, Expressed in metanephros and 250 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q6ULP2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6ULP2, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000119844, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Self-associates (PubMed:15758025).

Interacts with GGA1 (via GAE domain) (PubMed:14665628, PubMed:15758025).

Interacts with GGA3 (via GAE domain), AP1G1 (via GAE domain) and AP1G2 (via GAE domain) (PubMed:14665628).

Component of the aftiphilin/p200/gamma-synergin complex, at least composed of AFTPH/aftiphilin, HEATR5B/p200a and SYNRG/gamma-synergin, which plays a role in the AP1G1/AP-1-mediated protein trafficking from early to recycling endosomes (PubMed:15758025). Within the complex interacts with HEATR5B/p200a and SYNRG/gamma-synergin; the interactions are direct (PubMed:15758025).

Interacts with AP1G1/AP-1; the interaction is required to recruit AFTPH/aftiphilin to the perinuclear region of the cell (PubMed:15758025).

Interacts with CLTCL1/Clathrin (PubMed:15758025).

2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
120169, 20 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q6ULP2

Protein interaction database and analysis system

More...
IntActi
Q6ULP2, 12 interactors

Molecular INTeraction database

More...
MINTi
Q6ULP2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000238855

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6ULP2, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 523Interaction with AP1G1, AP1G2, GGA1 and GGA31 PublicationAdd BLAST523
Regioni386 – 610Interaction with AP1G11 PublicationAdd BLAST225
Regioni825 – 829Clathrin-bindingSequence analysis5

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi28 – 31WXXF motif 14
Motifi432 – 435WXXF motif 24
Motifi436 – 438WXXF motif 3 (partial)3
Motifi478 – 481WXXF motif 44
Motifi716 – 718CLTCL1/Clathrin-binding1 Publication3

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QPXF, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000154186

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_017041_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6ULP2

Identification of Orthologs from Complete Genome Data

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OMAi
GSHCNKA

Database of Orthologous Groups

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OrthoDBi
155710at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6ULP2

TreeFam database of animal gene trees

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TreeFami
TF331532

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029205, Clathrin-bd

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15045, Clathrin_bdg, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B8ZZI9B8ZZI9_HUMAN
Aftiphilin
AFTPH
592Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RR74A0A0U1RR74_HUMAN
Aftiphilin
AFTPH
227Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MSN6A0A0A0MSN6_HUMAN
Aftiphilin
AFTPH
138Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH22247 differs from that shown. Reason: Frameshift.Curated
The sequence AAH22247 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB13930 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB14949 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1878.1 [Q6ULP2-6]
CCDS46303.1 [Q6ULP2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_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

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000238855; ENSP00000238855; ENSG00000119844 [Q6ULP2-1]
ENST00000238856; ENSP00000238856; ENSG00000119844 [Q6ULP2-6]
ENST00000409933; ENSP00000387071; ENSG00000119844 [Q6ULP2-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54812

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54812

UCSC genome browser

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UCSCi
uc002scz.4, human [Q6ULP2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi120169, 20 interactors
ELMiQ6ULP2
IntActiQ6ULP2, 12 interactors
MINTiQ6ULP2
STRINGi9606.ENSP00000238855

PTM databases

iPTMnetiQ6ULP2
PhosphoSitePlusiQ6ULP2

Genetic variation databases

BioMutaiAFTPH
DMDMi62286617

Proteomic databases

EPDiQ6ULP2
jPOSTiQ6ULP2
MassIVEiQ6ULP2
PaxDbiQ6ULP2
PeptideAtlasiQ6ULP2
PRIDEiQ6ULP2
ProteomicsDBi67412 [Q6ULP2-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
30831, 102 antibodies

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

Comparative Toxicogenomics Database

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CTDi
54812
DisGeNETi54812

GeneCards: human genes, protein and diseases

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GeneCardsi
AFTPH
HGNCiHGNC:25951, AFTPH
HPAiENSG00000119844, Low tissue specificity
neXtProtiNX_Q6ULP2
OpenTargetsiENSG00000119844
PharmGKBiPA145149871
VEuPathDBiHostDB:ENSG00000119844.15

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QPXF, Eukaryota
GeneTreeiENSGT00940000154186
HOGENOMiCLU_017041_0_0_1
InParanoidiQ6ULP2
OMAiGSHCNKA
OrthoDBi155710at2759
PhylomeDBiQ6ULP2
TreeFamiTF331532

Enzyme and pathway databases

PathwayCommonsiQ6ULP2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
54812, 7 hits in 997 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
AFTPH, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
AFTPH

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54812
PharosiQ6ULP2, Tbio

Protein Ontology

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PROi
PR:Q6ULP2
RNActiQ6ULP2, protein

Gene expression databases

BgeeiENSG00000119844, Expressed in metanephros and 250 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAFTIN_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6ULP2
Secondary accession number(s): D6W5E9
, Q6ZM66, Q86VW3, Q8TCF3, Q9H7E3, Q9HAB9, Q9NXS4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: March 28, 2018
Last modified: April 7, 2021
This is version 138 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
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