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UniProtKB - Q9UJY5 (GGA1_HUMAN)

Entry version 201 (13 Feb 2019)
Sequence version 1 (01 May 2000)
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Protein

ADP-ribosylation factor-binding protein GGA1

Gene

GGA1

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

Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:11301005, PubMed:15886016). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:27901063). Required for targeting PKD1:PKD2 complex from the trans-Golgi network to the cilium membrane (By similarity). Regulates retrograde transport of proteins such as phosphorylated form of BACE1 from endosomes to the trans-Golgi network (PubMed:15886016, PubMed:15615712).By similarity4 Publications

Caution

It is uncertain whether Met-1 or Met-5 is the initiator.Curated

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8854214 TBC/RABGAPs
R-HSA-977225 Amyloid fiber formation

<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_and_taxonomy_section">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:
ADP-ribosylation factor-binding protein GGA1
Alternative name(s):
Gamma-adaptin-related protein 1
Golgi-localized, gamma ear-containing, ARF-binding protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:GGA1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000100083.18

Human Gene Nomenclature Database

More...HGNCi		HGNC:17842 GGA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606004 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UJY5

<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

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

Keywords - Cellular componenti

Endosome, Golgi apparatus, Membrane

<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_and_biotech_section">'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>Mutagenesisi92N → A: Abolishes interaction with IGF2R. 1 Publication1
Mutagenesisi182L → A: Abolishes interaction with ARF1, UBC and TSG101. 1 Publication1
Mutagenesisi194N → A: Abolishes interaction with ARF1 and RABEP1. 1 Publication1
Mutagenesisi197I → A: Abolishes interaction with ARF1, UBC and TSG101. 1 Publication1
Mutagenesisi198K → A: Abolishes interaction with ARF1. 1 Publication1
Mutagenesisi200M → A: Abolishes interaction with ARF1. 1 Publication1
Mutagenesisi204D → A: Abolishes interaction with ARF1. 1 Publication1
Mutagenesisi259M → K: Abolishes interaction with RABEP1. 1
Mutagenesisi260R → A: No effect on interaction with RABEP1. 1 Publication1
Mutagenesisi260R → E: Abolishes interaction with RABEP1 and UBC. 1 Publication1
Mutagenesisi264F → A: Abolishes interaction with RABEP1. 1 Publication1
Mutagenesisi267A → D: Abolishes interaction with RABEP1 and UBC. 1 Publication1
Mutagenesisi277L → A: Abolishes interaction with RABEP1, UBC and TSG101. 1 Publication1
Mutagenesisi281L → A: Abolishes interaction with RABEP1. 1 Publication1
Mutagenesisi284N → A: Abolishes interaction with RABEP1. 1 Publication1
Mutagenesisi284N → S: Abolishes interaction with RABEP1. 1 Publication1
Mutagenesisi355S → A: Increased interaction with IGF2R. Reduced phosphorylation. 1 Publication1
Mutagenesisi355S → D: Abolishes interaction with IGF2R. 1 Publication1
Mutagenesisi356 – 360LLDDE → AADAA: Partial loss of clathrin-binding. 1 Publication5
Mutagenesisi358D → A: Increased interaction with IGF2R. 1 Publication1
Mutagenesisi361 – 362LM → AA: Increased interaction with IGF2R. 1 Publication2
Mutagenesisi563A → D: Abolishes interaction with CCDC91. 1 Publication1
Mutagenesisi564V → D: Abolishes interaction with CCDC91. 1 Publication1
Mutagenesisi570V → E: Abolishes interaction with CCDC91. 1 Publication1
Mutagenesisi572L → E: Abolishes interaction with CCDC91. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		26088

Open Targets

More...OpenTargetsi		ENSG00000100083

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28657

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GGA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		14548066

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002126801 – 639ADP-ribosylation factor-binding protein GGA1Add BLAST639

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 residuei1N-acetylmethionineCombined sources1
Modified residuei185PhosphoserineCombined sources1
Modified residuei355Phosphoserine; by CK21 Publication1
Modified residuei418PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by CK2 and dephosphorylated by PP2A. Phosphorylation of GGA1 allows the internal DXXLL motif to bind the VHS domain and to inhibit the recognition of cargo signals.1 Publication
Ubiquitinated.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UJY5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UJY5

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

More...PaxDbi		Q9UJY5

PeptideAtlas

More...PeptideAtlasi		Q9UJY5

PRoteomics IDEntifications database

More...PRIDEi		Q9UJY5

ProteomicsDB human proteome resource

More...ProteomicsDBi		84692
84693 [Q9UJY5-2]
84694 [Q9UJY5-3]
84695 [Q9UJY5-4]
84696 [Q9UJY5-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UJY5

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

More...PhosphoSitePlusi		Q9UJY5

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100083 Expressed in 221 organ(s), highest expression level in right testis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UJY5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UJY5 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA048280
HPA051016

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (Probable). Interacts with GGA2 and GGA3 (PubMed:14638859). Binds to clathrin and activated ARFs, including ARF1, ARF5 and ARF6 (PubMed:11301005, PubMed:11950392, PubMed:12679809, PubMed:15143060, PubMed:22522702). Interacts with RABEP1 and RABGEF1 (PubMed:12505986, PubMed:15143060). Interacts with the type-I membrane proteins SORT1, SORL1, LRP3, M6PR/CD-MPR and IGF2R/CI-MPR (PubMed:11390366, PubMed:11387475, PubMed:11821067, PubMed:12060753). Interacts with EPN4 (PubMed:12538641). Binds CCDC91, P200 and SYNRG (PubMed:12858163, PubMed:12808037, PubMed:10814529). Interacts with NECAP1, NECAP2 and AFTPH/aftiphilin (PubMed:14665628). Interacts with TSG101 and UBC (PubMed:14660606, PubMed:15143060). Interacts with RNF11 (PubMed:20676133). Interacts (via VHS domain) with BACE1 (via DXXLL motif); the interaction highly increases when BACE1 is phosphorylated at 'Ser-498' (PubMed:14567678, PubMed:15886016). Interacts with CNST (By similarity). Interacts with ADRA2B (PubMed:27901063). Interacts with ARL3; the interaction recruits, in collaboration with RABEP1, PKD1:PKD2 complex to trans-Golgi network and is required for ciliary targeting (By similarity).By similarityCurated21 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117540, 77 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9UJY5

Protein interaction database and analysis system

More...IntActi		Q9UJY5, 38 interactors

Molecular INTeraction database

More...MINTi		Q9UJY5

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000341344

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1639
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1J2JX-ray1.60B166-210[»]
1JWFX-ray2.10A1-147[»]
1JWGX-ray2.00A/B1-147[»]
1NA8X-ray2.30A/B494-639[»]
1NAFX-ray2.80A165-314[»]
1NWMX-ray2.40X166-302[»]
1O3XX-ray2.10A166-305[»]
1OM9X-ray2.50A/B494-639[»]
1OXZX-ray2.80A141-326[»]
1PY1X-ray2.60A/B/C/D2-157[»]
1UJJX-ray2.60A/B1-147[»]
1UJKX-ray1.90A/B1-147[»]
1X79X-ray2.41A210-302[»]
2DWXX-ray2.55A/B/C/D507-639[»]
P/Q376-388[»]
2DWYX-ray2.30A/B/C/D507-639[»]
3G2SX-ray1.70A/B1-147[»]
3G2TX-ray2.00A/B1-147[»]
3G2UX-ray2.30A/B1-147[»]
3G2VX-ray2.10A/B1-147[»]
3G2WX-ray2.40A/B1-147[»]
C/D351-364[»]

Database of protein disorder

More...DisProti		DP00314

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9UJY5

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9UJY5

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9UJY5

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini17 – 147VHSPROSITE-ProRule annotationAdd BLAST131
Domaini171 – 299GATPROSITE-ProRule annotationAdd BLAST129
Domaini510 – 631GAEPROSITE-ProRule annotationAdd BLAST122

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>Regioni114 – 274Interaction with ARF3Add BLAST161
Regioni300 – 509Unstructured hingeAdd BLAST210

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>Motifi358 – 362Autoinhibitory5

<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 VHS domain functions as a recognition module for sorting signals composed of an acidic cluster followed by two leucines (DXXLL motif).
The GAT domain is responsible for interaction with ARF-GTP, UBC and RABEP1. Required for recruitment to the TGN it prevents ARF-GTP hydrolysis.1 Publication
The unstructured hinge region contains clathrin-binding but no autoinhibitory (DXXLL) motifs.1 Publication
The GAE domain binds accessory proteins regulating GGAs function.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the GGA protein family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1087 Eukaryota
ENOG410Y26G LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156448

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231169

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG015945

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UJY5

KEGG Orthology (KO)

More...KOi		K12404

Identification of Orthologs from Complete Genome Data

More...OMAi		GFRVLFH

Database of Orthologous Groups

More...OrthoDBi		594067at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UJY5

TreeFam database of animal gene trees

More...TreeFami		TF318574

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.58.160, 1 hit
1.25.40.90, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008152 Clathrin_a/b/g-adaptin_app_Ig
IPR013041 Clathrin_app_Ig-like_sf
IPR008942 ENTH_VHS
IPR008153 GAE_dom
IPR004152 GAT_dom
IPR038425 GAT_sf
IPR002014 VHS_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02883 Alpha_adaptinC2, 1 hit
PF03127 GAT, 1 hit
PF00790 VHS, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00809 Alpha_adaptinC2, 1 hit
SM00288 VHS, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48464 SSF48464, 1 hit
SSF49348 SSF49348, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50180 GAE, 1 hit
PS50909 GAT, 1 hit
PS50179 VHS, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 6 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UJY5-1) [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
MEPAMEPETL EARINRATNP LNKELDWASI NGFCEQLNED FEGPPLATRL 
        60         70         80         90        100
LAHKIQSPQE WEAIQALTVL ETCMKSCGKR FHDEVGKFRF LNELIKVVSP 
       110        120        130        140        150
KYLGSRTSEK VKNKILELLY SWTVGLPEEV KIAEAYQMLK KQGIVKSDPK 
       160        170        180        190        200
LPDDTTFPLP PPRPKNVIFE DEEKSKMLAR LLKSSHPEDL RAANKLIKEM 
       210        220        230        240        250
VQEDQKRMEK ISKRVNAIEE VNNNVKLLTE MVMSHSQGGA AAGSSEDLMK 
       260        270        280        290        300
ELYQRCERMR PTLFRLASDT EDNDEALAEI LQANDNLTQV INLYKQLVRG 
       310        320        330        340        350
EEVNGDATAG SIPGSTSALL DLSGLDLPPA GTTYPAMPTR PGEQASPEQP 
       360        370        380        390        400
SASVSLLDDE LMSLGLSDPT PPSGPSLDGT GWNSFQSSDA TEPPAPALAQ 
       410        420        430        440        450
APSMESRPPA QTSLPASSGL DDLDLLGKTL LQQSLPPESQ QVRWEKQQPT 
       460        470        480        490        500
PRLTLRDLQN KSSSCSSPSS SATSLLHTVS PEPPRPPQQP VPTELSLASI 
       510        520        530        540        550
TVPLESIKPS NILPVTVYDQ HGFRILFHFA RDPLPGRSDV LVVVVSMLST 
       560        570        580        590        600
APQPIRNIVF QSAVPKVMKV KLQPPSGTEL PAFNPIVHPS AITQVLLLAN 
       610        620        630 
PQKEKVRLRY KLTFTMGDQT YNEMGDVDQF PPPETWGSL
Length:639
Mass (Da):70,384
Last modified:May 1, 2000 - v1
<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:iB0B6F089FA0F7DD5
GO
Isoform 2 (identifier: Q9UJY5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     69-101: Missing.

Note: No experimental confirmation available.
Show »
Length:606
Mass (Da):66,563
Checksum:i6231A20CC57997B1
GO
Isoform 3 (identifier: Q9UJY5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:566
Mass (Da):62,138
Checksum:iF96825C24B633E03
GO
Isoform 4 (identifier: Q9UJY5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     277-363: Missing.

Show »
Length:552
Mass (Da):61,379
Checksum:iAC507C9F975A32C3
GO
Isoform 5 (identifier: Q9UJY5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-89: LETCMKSCGKRFHDEVGKFR → RRGEATIRPPPCDDTKGGQD
     90-639: Missing.

Show »
Length:89
Mass (Da):9,969
Checksum:iF209D7D764D4CA7E
GO
Isoform 6 (identifier: Q9UJY5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     68-68: T → TVRRGEATIRPPPCDDTK

Note: No experimental confirmation available.
Show »
Length:656
Mass (Da):72,277
Checksum:i60EE957099B4847C
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B0QYR6B0QYR6_HUMAN
ADP-ribosylation factor-binding pro...
GGA1
246Annotation 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>
B0QYR5B0QYR5_HUMAN
ADP-ribosylation factor-binding pro...
GGA1
105Annotation 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>
B0QYS5B0QYS5_HUMAN
ADP-ribosylation factor-binding pro...
GGA1
108Annotation 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>
B0QYS1B0QYS1_HUMAN
ADP-ribosylation factor-binding pro...
GGA1
40Annotation 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>
B0QYR9B0QYR9_HUMAN
ADP-ribosylation factor-binding pro...
GGA1
28Annotation 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>
B0QYS0B0QYS0_HUMAN
ADP-ribosylation factor-binding pro...
GGA1
38Annotation 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>
B0QYS3B0QYS3_HUMAN
ADP-ribosylation factor-binding pro...
GGA1
70Annotation 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>
B0QYS2B0QYS2_HUMAN
ADP-ribosylation factor-binding pro...
GGA1
59Annotation 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>
B0QYR8B0QYR8_HUMAN
ADP-ribosylation factor-binding pro...
GGA1
17Annotation 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>

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_036522239G → S in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs765255006Ensembl.1
Natural variantiVAR_036523484P → A in a breast cancer sample; somatic mutation. 1 Publication1

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_0428061 – 73Missing in isoform 3. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_05735268T → TVRRGEATIRPPPCDDTK in isoform 6. 1 Publication1
Alternative sequenceiVSP_00174469 – 101Missing in isoform 2. CuratedAdd BLAST33
Alternative sequenceiVSP_04280770 – 89LETCM…VGKFR → RRGEATIRPPPCDDTKGGQD in isoform 5. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_04280890 – 639Missing in isoform 5. 1 PublicationAdd BLAST550
Alternative sequenceiVSP_042809277 – 363Missing in isoform 4. 1 PublicationAdd BLAST87

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF190862 mRNA Translation: AAF05707.1
AF218584 mRNA Translation: AAF42847.1
AF233521 mRNA Translation: AAF35393.1
CR456493 mRNA Translation: CAG30379.1
AK075256 mRNA Translation: BAC11501.1
AK122898 mRNA Translation: BAG53788.1
AK290548 mRNA Translation: BAF83237.1
AL035496 Genomic DNA No translation available.
Z83844 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW60169.1
BC000538 mRNA Translation: AAH00538.2
BC010917 mRNA Translation: AAH10917.1
BC029388 mRNA Translation: AAH29388.1
BC044629 mRNA Translation: AAH44629.1
AL110219 mRNA Translation: CAB53679.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13951.1 [Q9UJY5-1]
CCDS33643.1 [Q9UJY5-4]
CCDS54526.1 [Q9UJY5-3]
CCDS87022.1 [Q9UJY5-6]

Protein sequence database of the Protein Information Resource

More...PIRi		T14759

NCBI Reference Sequences

More...RefSeqi		NP_001001560.1, NM_001001560.2 [Q9UJY5-4]
NP_001166158.1, NM_001172687.1
NP_001166159.1, NM_001172688.1 [Q9UJY5-3]
NP_037497.1, NM_013365.4 [Q9UJY5-1]
XP_005261574.1, XM_005261517.3
XP_005261577.1, XM_005261520.1 [Q9UJY5-3]
XP_006724292.1, XM_006724229.1 [Q9UJY5-3]
XP_011528424.1, XM_011530122.1
XP_016884249.1, XM_017028760.1
XP_016884250.1, XM_017028761.1 [Q9UJY5-3]
XP_016884251.1, XM_017028762.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.499158

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000325180; ENSP00000321288; ENSG00000100083 [Q9UJY5-4]
ENST00000343632; ENSP00000341344; ENSG00000100083 [Q9UJY5-1]
ENST00000381756; ENSP00000371175; ENSG00000100083 [Q9UJY5-6]
ENST00000406772; ENSP00000385287; ENSG00000100083 [Q9UJY5-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26088

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26088

UCSC genome browser

More...UCSCi		uc003atc.4 human [Q9UJY5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF190862 mRNA Translation: AAF05707.1
AF218584 mRNA Translation: AAF42847.1
AF233521 mRNA Translation: AAF35393.1
CR456493 mRNA Translation: CAG30379.1
AK075256 mRNA Translation: BAC11501.1
AK122898 mRNA Translation: BAG53788.1
AK290548 mRNA Translation: BAF83237.1
AL035496 Genomic DNA No translation available.
Z83844 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW60169.1
BC000538 mRNA Translation: AAH00538.2
BC010917 mRNA Translation: AAH10917.1
BC029388 mRNA Translation: AAH29388.1
BC044629 mRNA Translation: AAH44629.1
AL110219 mRNA Translation: CAB53679.1
CCDSiCCDS13951.1 [Q9UJY5-1]
CCDS33643.1 [Q9UJY5-4]
CCDS54526.1 [Q9UJY5-3]
CCDS87022.1 [Q9UJY5-6]
PIRiT14759
RefSeqiNP_001001560.1, NM_001001560.2 [Q9UJY5-4]
NP_001166158.1, NM_001172687.1
NP_001166159.1, NM_001172688.1 [Q9UJY5-3]
NP_037497.1, NM_013365.4 [Q9UJY5-1]
XP_005261574.1, XM_005261517.3
XP_005261577.1, XM_005261520.1 [Q9UJY5-3]
XP_006724292.1, XM_006724229.1 [Q9UJY5-3]
XP_011528424.1, XM_011530122.1
XP_016884249.1, XM_017028760.1
XP_016884250.1, XM_017028761.1 [Q9UJY5-3]
XP_016884251.1, XM_017028762.1
UniGeneiHs.499158

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1J2JX-ray1.60B166-210[»]
1JWFX-ray2.10A1-147[»]
1JWGX-ray2.00A/B1-147[»]
1NA8X-ray2.30A/B494-639[»]
1NAFX-ray2.80A165-314[»]
1NWMX-ray2.40X166-302[»]
1O3XX-ray2.10A166-305[»]
1OM9X-ray2.50A/B494-639[»]
1OXZX-ray2.80A141-326[»]
1PY1X-ray2.60A/B/C/D2-157[»]
1UJJX-ray2.60A/B1-147[»]
1UJKX-ray1.90A/B1-147[»]
1X79X-ray2.41A210-302[»]
2DWXX-ray2.55A/B/C/D507-639[»]
P/Q376-388[»]
2DWYX-ray2.30A/B/C/D507-639[»]
3G2SX-ray1.70A/B1-147[»]
3G2TX-ray2.00A/B1-147[»]
3G2UX-ray2.30A/B1-147[»]
3G2VX-ray2.10A/B1-147[»]
3G2WX-ray2.40A/B1-147[»]
C/D351-364[»]
DisProtiDP00314
ProteinModelPortaliQ9UJY5
SMRiQ9UJY5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117540, 77 interactors
ELMiQ9UJY5
IntActiQ9UJY5, 38 interactors
MINTiQ9UJY5
STRINGi9606.ENSP00000341344

PTM databases

iPTMnetiQ9UJY5
PhosphoSitePlusiQ9UJY5

Polymorphism and mutation databases

BioMutaiGGA1
DMDMi14548066

Proteomic databases

EPDiQ9UJY5
jPOSTiQ9UJY5
PaxDbiQ9UJY5
PeptideAtlasiQ9UJY5
PRIDEiQ9UJY5
ProteomicsDBi84692
84693 [Q9UJY5-2]
84694 [Q9UJY5-3]
84695 [Q9UJY5-4]
84696 [Q9UJY5-5]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		26088
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325180; ENSP00000321288; ENSG00000100083 [Q9UJY5-4]
ENST00000343632; ENSP00000341344; ENSG00000100083 [Q9UJY5-1]
ENST00000381756; ENSP00000371175; ENSG00000100083 [Q9UJY5-6]
ENST00000406772; ENSP00000385287; ENSG00000100083 [Q9UJY5-3]
GeneIDi26088
KEGGihsa:26088
UCSCiuc003atc.4 human [Q9UJY5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26088
DisGeNETi26088
EuPathDBiHostDB:ENSG00000100083.18

GeneCards: human genes, protein and diseases

More...GeneCardsi		GGA1
HGNCiHGNC:17842 GGA1
HPAiHPA048280
HPA051016
MIMi606004 gene
neXtProtiNX_Q9UJY5
OpenTargetsiENSG00000100083
PharmGKBiPA28657

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1087 Eukaryota
ENOG410Y26G LUCA
GeneTreeiENSGT00940000156448
HOGENOMiHOG000231169
HOVERGENiHBG015945
InParanoidiQ9UJY5
KOiK12404
OMAiGFRVLFH
OrthoDBi594067at2759
PhylomeDBiQ9UJY5
TreeFamiTF318574

Enzyme and pathway databases

ReactomeiR-HSA-8854214 TBC/RABGAPs
R-HSA-977225 Amyloid fiber formation

Miscellaneous databases

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

More...ChiTaRSi		GGA1 human
EvolutionaryTraceiQ9UJY5

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GGA1

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

More...GenomeRNAii		26088

Protein Ontology

More...PROi		PR:Q9UJY5

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100083 Expressed in 221 organ(s), highest expression level in right testis
ExpressionAtlasiQ9UJY5 baseline and differential
GenevisibleiQ9UJY5 HS

Family and domain databases

Gene3Di1.20.58.160, 1 hit
1.25.40.90, 1 hit
InterProiView protein in InterPro
IPR008152 Clathrin_a/b/g-adaptin_app_Ig
IPR013041 Clathrin_app_Ig-like_sf
IPR008942 ENTH_VHS
IPR008153 GAE_dom
IPR004152 GAT_dom
IPR038425 GAT_sf
IPR002014 VHS_dom
PfamiView protein in Pfam
PF02883 Alpha_adaptinC2, 1 hit
PF03127 GAT, 1 hit
PF00790 VHS, 1 hit
SMARTiView protein in SMART
SM00809 Alpha_adaptinC2, 1 hit
SM00288 VHS, 1 hit
SUPFAMiSSF48464 SSF48464, 1 hit
SSF49348 SSF49348, 1 hit
PROSITEiView protein in PROSITE
PS50180 GAE, 1 hit
PS50909 GAT, 1 hit
PS50179 VHS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiGGA1_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: Q9UJY5
Secondary accession number(s): A8K3D3
, B0QYR7, Q5R3N1, Q5TG07, Q6IC75, Q86YA9, Q8NCS6, Q9BW94, Q9UG00, Q9UGW0, Q9UGW1
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: May 1, 2000
Last modified: February 13, 2019
This is version 201 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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