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Entry version 172 (07 Oct 2020)
Sequence version 3 (23 Jan 2007)
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Protein

Golgi reassembly-stacking protein 2

Gene

GORASP2

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 the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after breakdown during mitosis and meiosis (PubMed:10487747, PubMed:21515684, PubMed:22523075). May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA (PubMed:11101516). Required for normal acrosome formation during spermiogenesis and normal male fertility, probably by promoting colocalization of JAM2 and JAM3 at contact sites between germ cells and Sertoli cells (By similarity). Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936, PubMed:27062250, PubMed:28067262).By similarity7 Publications

<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 - 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 processDifferentiation, Spermatogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9H8Y8

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-162658, Golgi Cisternae Pericentriolar Stack Reorganization

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9H8Y8

<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:
Golgi reassembly-stacking protein 2
Short name:
GRS2
Alternative name(s):
Golgi phosphoprotein 6
Short name:
GOLPH6
Golgi reassembly-stacking protein of 55 kDa
Short name:
GRASP55
p59
<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:GORASP2
Synonyms:GOLPH6
<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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000115806.12

Human Gene Nomenclature Database

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HGNCi
HGNC:17500, GORASP2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608693, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9H8Y8

<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

Endoplasmic reticulum, 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%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>Mutagenesisi2G → A: Abolishes myristoylation. Loss of its ability to mediate unconventional (ER/Golgi-independent) trafficking of CFTR to the cell membrane. No effect on ER stress-induced relocalization from Golgi to ER. 2 Publications1
Mutagenesisi59L → A: Abolishes organelle clustering; when associated with S-100. 1 Publication1
Mutagenesisi100I → S: Abolishes organelle clustering; when associated with A-59. 1 Publication1
Mutagenesisi148D → N: Enhances homodimerization. Loss of ER stress-induced relocalization from Golgi to ER. 1 Publication1
Mutagenesisi189S → D: Phosphomimetic mutation that decreases the ability to promote organelle clustering. 1 Publication1
Mutagenesisi222T → A: Abolishes mitotic phosphorylation; when associated with A-225. 1 Publication1
Mutagenesisi225T → A: Abolishes mitotic phosphorylation; when associated with A-222. 1 Publication1
Mutagenesisi441S → A: Loss of phosphorylation and its ability to mediate unconventional (ER/Golgi-independent) trafficking of CFTR to the cell membrane. Inhibits ER stress-mediated disruption of homodimerization. Loss of ER stress-induced relocalization from Golgi to ER. 2 Publications1
Mutagenesisi441S → D: Phosphomimetic mutant. No loss of its ability to mediate unconventional (ER/Golgi-independent) trafficking of CFTR to the cell membrane. Disrupts homodimerization. No loss of ER stress-induced relocalization from Golgi to ER. 2 Publications1
Mutagenesisi449S → A: Loss of phosphorylation. Does not inhibit ER stress-mediated disruption of homodimerization. 1 Publication1
Mutagenesisi449S → D: Phosphomimetic mutant. No disruption of homodimerization. 1 Publication1
Mutagenesisi451S → A: Loss of phosphorylation. Does not inhibit ER stress-mediated disruption of homodimerization. 1 Publication1
Mutagenesisi451S → D: Phosphomimetic mutant. Partial disruption of homodimerization. 1 Publication1

Organism-specific databases

DisGeNET

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DisGeNETi
26003

Open Targets

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OpenTargetsi
ENSG00000115806

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA38457

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9H8Y8, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GORASP2

Domain mapping of disease mutations (DMDM)

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DMDMi
51316097

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved2 Publications
<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_00000875452 – 452Golgi reassembly-stacking protein 2Add BLAST451

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine1 Publication3 Publications1
<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 residuei30Dimethylated arginineBy similarity1
Modified residuei47Dimethylated arginineBy similarity1
Modified residuei214PhosphoserineCombined sources1
Modified residuei222PhosphothreonineCombined sources1
Modified residuei225PhosphothreonineCombined sources1 Publication1
Modified residuei409PhosphoserineBy similarity1
Modified residuei415PhosphothreonineCombined sources1
Modified residuei433PhosphothreonineCombined sources1
Modified residuei436PhosphoserineCombined sources1
Modified residuei441Phosphoserine2 Publications1
Modified residuei449PhosphoserineCombined sources1 Publication1
Modified residuei451PhosphoserineCombined sources1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Myristoylated (PubMed:11101516). Myristoylation is essential for the Golgi targeting (By similarity).By similarity1 Publication
Palmitoylated.1 Publication
Phosphorylated in mitotic cells (PubMed:11408587). ER stress-induced phosphorylation at Ser-441 induces monomerization and subsequent relocalization from Golgi to ER which is essential for mediating unconventional (ER/Golgi-independent) trafficking of CFTR to the cell membrane (PubMed:21884936, PubMed:27062250).3 Publications

Keywords - PTMi

Lipoprotein, Methylation, Myristate, Palmitate, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9H8Y8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H8Y8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H8Y8

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9H8Y8

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

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PaxDbi
Q9H8Y8

PeptideAtlas

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PeptideAtlasi
Q9H8Y8

PRoteomics IDEntifications database

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PRIDEi
Q9H8Y8

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
4483
81257 [Q9H8Y8-1]
81258 [Q9H8Y8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9H8Y8

MetOSite database of methionine sulfoxide sites

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MetOSitei
Q9H8Y8

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

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PhosphoSitePlusi
Q9H8Y8

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q9H8Y8

<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

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Bgeei
ENSG00000115806, Expressed in sperm and 248 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H8Y8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H8Y8, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000115806, Tissue enriched (testis)

<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

Homodimer. Homooligomer. ER stress induces phosphorylation-dependent monomerization (PubMed:27062250).

Interacts with BLZF1/Golgin 45 (PubMed:11739401).

Identified in a complex with RAB2 and GORASP2 (PubMed:11739401).

Interacts with JAM2 and JAM3 (By similarity).

Interacts with members of the p24 cargo receptors (PubMed:11739402).

Interacts with CNIH1 and the cytoplasmic domain of transmembrane TGFA, prior its transit in the trans-Golgi (PubMed:11101516, PubMed:17607000).

Interacts with KCTD5 (PubMed:19361449).

Interacts with TMED2 and TMED3 (By similarity).

Interacts with SEC16A in response to ER stress (PubMed:28067262).

Interacts (via PDZ GRASP-type 1 domain) with core-glycosylated CFTR in response to ER stress (PubMed:21884936).

By similarity8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q9H8Y8
With#Exp.IntAct
AAMDC [Q9H7C9]3EBI-739467,EBI-10308705
ACY3 [Q96HD9]15EBI-739467,EBI-3916242
ALKBH4 [Q9NXW9]3EBI-739467,EBI-8637516
APIP [Q96GX9]3EBI-739467,EBI-359248
ARHGEF15 [O94989]3EBI-739467,EBI-740691
ARL6IP1 [Q15041]4EBI-739467,EBI-714543
ASMTL [O95671]3EBI-739467,EBI-743231
ATP6V1G1 [O75348]5EBI-739467,EBI-711802
BEND5 [Q7L4P6]4EBI-739467,EBI-724373
BTBD3 [Q9Y2F9]3EBI-739467,EBI-311155
C1orf94 [Q6P1W5]7EBI-739467,EBI-946029
CARHSP1 [Q9Y2V2]3EBI-739467,EBI-718719
CBLB [Q13191]8EBI-739467,EBI-744027
CBY1 [Q9Y3M2]3EBI-739467,EBI-947308
CCDC153 [Q494R4]4EBI-739467,EBI-10241443
CCDC90B [Q9GZT6]3EBI-739467,EBI-713148
CDA [P32320]3EBI-739467,EBI-9250559
CDC23 [Q9UJX2]9EBI-739467,EBI-396137
CDK18 [Q07002]3EBI-739467,EBI-746238
CDKN2D [P55273]3EBI-739467,EBI-745859
CEP76 [Q8TAP6]3EBI-739467,EBI-742887
CFTR [P13569]3EBI-739467,EBI-349854
CGGBP1 [Q9UFW8]3EBI-739467,EBI-723153
CHMP1A [Q9HD42]3EBI-739467,EBI-1057156
CNTNAP2 [Q9UHC6]3EBI-739467,EBI-310892
CRYAA [P02489]12EBI-739467,EBI-6875961
CRYAB [P02511]3EBI-739467,EBI-739060
DCTD [P32321]7EBI-739467,EBI-739870
DMC1 [Q14565]8EBI-739467,EBI-930865
DNAJB13 [P59910]3EBI-739467,EBI-11514233
DPYSL2 [Q16555]15EBI-739467,EBI-1104711
DUSP21 [Q9H596]7EBI-739467,EBI-7357329
DUSP4 [Q13115]3EBI-739467,EBI-6591081
DYRK3 - isoform 2 [O43781-2]5EBI-739467,EBI-13332019
ECHDC1 [Q9NTX5]3EBI-739467,EBI-2807146
EIF2B1 [Q14232]8EBI-739467,EBI-491065
EMILIN3 [Q9NT22]5EBI-739467,EBI-3197883
ENOX1 [Q8TC92]3EBI-739467,EBI-713221
ETHE1 [O95571]3EBI-739467,EBI-715318
EURL - isoform 3 [Q9NYK6-3]5EBI-739467,EBI-13371226
FIG4 [Q92562]3EBI-739467,EBI-4290773
GABPB2 [Q8TAK5]6EBI-739467,EBI-8468945
GNG7 [O60262]6EBI-739467,EBI-717760
GNGT1 [P63211]5EBI-739467,EBI-10220715
GOLGA2 [Q08379]7EBI-739467,EBI-618309
GOLGA6L2 - isoform 2 [Q8N9W4-2]3EBI-739467,EBI-10268729
GSTZ1 [O43708]3EBI-739467,EBI-748043
GTF2IRD1 [Q9UHL9]3EBI-739467,EBI-372530
HOXC5 [Q00444]3EBI-739467,EBI-11955357
HSBP1 [O75506]3EBI-739467,EBI-748664
HSPB11 [Q9Y547]3EBI-739467,EBI-747101
JADE2 - isoform 2 [Q9NQC1-2]3EBI-739467,EBI-10311936
KCTD13 [Q8WZ19]3EBI-739467,EBI-742916
KCTD7 - isoform 2 [Q96MP8-2]5EBI-739467,EBI-11954971
KCTD9 [Q7L273]7EBI-739467,EBI-4397613
KIFC3 [Q9BVG8]3EBI-739467,EBI-2125614
KIFC3 - isoform 4 [Q9BVG8-5]3EBI-739467,EBI-14069005
KRTAP5-11 [Q6L8G4]5EBI-739467,EBI-11993296
LONRF1 [Q17RB8]10EBI-739467,EBI-2341787
MAP1LC3B [Q9GZQ8]6EBI-739467,EBI-373144
MATN4 - isoform 2 [O95460-2]3EBI-739467,EBI-12072296
MID2 - isoform 2 [Q9UJV3-2]6EBI-739467,EBI-10172526
MIEN1 [Q9BRT3]3EBI-739467,EBI-6137472
MORN2 [Q502X0]3EBI-739467,EBI-725982
MPLKIP [Q8TAP9]5EBI-739467,EBI-11603426
MSC [O60682]5EBI-739467,EBI-740310
MYOM3 - isoform 2 [Q5VTT5-2]3EBI-739467,EBI-12247808
NHSL2 [Q5HYW2]3EBI-739467,EBI-2859639
NMNAT1 [Q9HAN9]3EBI-739467,EBI-3917542
NQO2 [P16083]5EBI-739467,EBI-358466
NUDT5 [Q9UKK9]3EBI-739467,EBI-721623
ODC1 [P11926]11EBI-739467,EBI-1044287
PCBD1 [P61457]6EBI-739467,EBI-740475
PDE9A [O76083]4EBI-739467,EBI-742764
PNMA5 [Q96PV4]7EBI-739467,EBI-10171633
PRDX3 [P30048]6EBI-739467,EBI-748336
PRKAB2 [O43741]3EBI-739467,EBI-1053424
PRPS1 [P60891]6EBI-739467,EBI-749195
PSMA3 [P25788]3EBI-739467,EBI-348380
PSMD6 [Q15008]5EBI-739467,EBI-359701
RAB27B [O00194]3EBI-739467,EBI-10179046
RAB39A [Q14964]3EBI-739467,EBI-3048577
RBM46 [Q8TBY0]3EBI-739467,EBI-12068216
RGL2 [O15211]3EBI-739467,EBI-712355
RGS3 - isoform 8 [P49796-8]3EBI-739467,EBI-10211517
RPIA [P49247]8EBI-739467,EBI-744831
SCAND1 [P57086]6EBI-739467,EBI-745846
SEPTIN1 [Q8WYJ6]3EBI-739467,EBI-693002
SEPTIN14 [Q6ZU15]3EBI-739467,EBI-2009297
SHMT1 [P34896]3EBI-739467,EBI-715117
STOX1 [Q6ZVD7]4EBI-739467,EBI-3923644
TAGLN [Q01995]6EBI-739467,EBI-1054248
TCF4 [P15884]4EBI-739467,EBI-533224
TEKT3 [Q9BXF9]4EBI-739467,EBI-8644516
TLE5 [Q08117]4EBI-739467,EBI-717810
TLE5 - isoform 2 [Q08117-2]3EBI-739467,EBI-11741437
TP53RK [Q96S44]3EBI-739467,EBI-739588
TPH1 [P17752]5EBI-739467,EBI-3956833
TRAF1 [Q13077]7EBI-739467,EBI-359224
TRAF2 [Q12933]8EBI-739467,EBI-355744
TRAF4 [Q9BUZ4]4EBI-739467,EBI-3650647
TRAF5 [O00463]3EBI-739467,EBI-523498
TRAPPC6A - isoform 2 [O75865-2]5EBI-739467,EBI-8451480
TRIM38 [O00635]6EBI-739467,EBI-2130415
TRPT1 - isoform 2 [Q86TN4-2]3EBI-739467,EBI-12403619
TSC22D1 - isoform 2 [Q15714-2]8EBI-739467,EBI-12034704
TSEN15 [Q8WW01]3EBI-739467,EBI-372432
TSN [Q15631]6EBI-739467,EBI-1044160
TTC19 [Q6DKK2]5EBI-739467,EBI-948354
TXLNA [P40222]7EBI-739467,EBI-359793
UBE2Z [Q9H832]3EBI-739467,EBI-720977
UBL3 [O95164]3EBI-739467,EBI-12876508
VPS37B [Q9H9H4]3EBI-739467,EBI-4400866
VPS52 [Q8N1B4]3EBI-739467,EBI-2799833
XPNPEP1 - isoform 3 [Q9NQW7-3]3EBI-739467,EBI-12079490
ZBED1 [O96006]3EBI-739467,EBI-740037
ZBTB14 [O43829]4EBI-739467,EBI-10176632
ZMYND19 [Q96E35]3EBI-739467,EBI-746595
ZNF148 [Q9UQR1]3EBI-739467,EBI-2688184
ZNF148 - isoform 2 [Q9UQR1-2]5EBI-739467,EBI-11742222
RNA-directed RNA polymerase (PRO_0000045603) from Hepatitis C virus genotype 2a (isolate JFH-1).3EBI-739467,EBI-6927928

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
117479, 203 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H8Y8, 157 interactors

Molecular INTeraction database

More...
MINTi
Q9H8Y8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000234160

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H8Y8, protein

<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

1452
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...
SMRi
Q9H8Y8

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9H8Y8

<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%5Fand%5Fdomains%5Fsection">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>Domaini15 – 105PDZ GRASP-type 1PROSITE-ProRule annotationAdd BLAST91
Domaini111 – 199PDZ GRASP-type 2PROSITE-ProRule annotationAdd BLAST89

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>Regioni15 – 215GRASPPROSITE-ProRule annotationAdd BLAST201
Regioni194 – 199Important for membrane binding6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi277 – 372Pro-richAdd BLAST96

<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 GORASP family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3834, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000008686

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_025095_5_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H8Y8

Identification of Orthologs from Complete Genome Data

More...
OMAi
PTPHLMP

Database of Orthologous Groups

More...
OrthoDBi
1366434at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H8Y8

TreeFam database of animal gene trees

More...
TreeFami
TF314053

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.42.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR024958, GRASP55/65_PDZ
IPR007583, GRASP55_65
IPR036034, PDZ_sf

The PANTHER Classification System

More...
PANTHERi
PTHR12893, PTHR12893, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04495, GRASP55_65, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50156, SSF50156, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51865, PDZ_GRASP, 2 hits

<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 (3+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <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 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H8Y8-1) [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
MGSSQSVEIP GGGTEGYHVL RVQENSPGHR AGLEPFFDFI VSINGSRLNK
60 70 80 90 100
DNDTLKDLLK ANVEKPVKML IYSSKTLELR ETSVTPSNLW GGQGLLGVSI
110 120 130 140 150
RFCSFDGANE NVWHVLEVES NSPAALAGLR PHSDYIIGAD TVMNESEDLF
160 170 180 190 200
SLIETHEAKP LKLYVYNTDT DNCREVIITP NSAWGGEGSL GCGIGYGYLH
210 220 230 240 250
RIPTRPFEEG KKISLPGQMA GTPITPLKDG FTEVQLSSVN PPSLSPPGTT
260 270 280 290 300
GIEQSLTGLS ISSTPPAVSS VLSTGVPTVP LLPPQVNQSL TSVPPMNPAT
310 320 330 340 350
TLPGLMPLPA GLPNLPNLNL NLPAPHIMPG VGLPELVNPG LPPLPSMPPR
360 370 380 390 400
NLPGIAPLPL PSEFLPSFPL VPESSSAASS GELLSSLPPT SNAPSDPATT
410 420 430 440 450
TAKADAASSL TVDVTPPTAK APTTVEDRVG DSTPVSEKPV SAAVDANASE

SP
Length:452
Mass (Da):47,145
Last modified:January 23, 2007 - 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:i326EA6C107D2EA8B
GO
Isoform 2 (identifier: Q9H8Y8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.

Show »
Length:384
Mass (Da):39,768
Checksum:i707E11F2C55B7BDA
GO
Isoform 3 (identifier: Q9H8Y8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MGSSQSVEIPGGGTEGYHVLR → MREGSSTLSEIRKLKPGIMVCTCNPSYSNQETE

Show »
Length:464
Mass (Da):48,674
Checksum:iF6A0C68893A94434
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WEG2F8WEG2_HUMAN
Golgi reassembly-stacking protein 2
GORASP2
32Annotation 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>
F8WEH9F8WEH9_HUMAN
Golgi reassembly-stacking protein 2
GORASP2
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>
F8WF79F8WF79_HUMAN
Golgi reassembly-stacking protein 2
GORASP2
23Annotation 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>
F8WBR9F8WBR9_HUMAN
Golgi reassembly-stacking protein 2
GORASP2
73Annotation 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>

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 conflicti20L → Q in BAB14459 (PubMed:14702039).Curated1
Sequence conflicti34E → G in BAB14395 (PubMed:14702039).Curated1
Sequence conflicti83S → P AA sequence (PubMed:11101516).Curated1
Sequence conflicti299A → T in BAB14395 (PubMed:14702039).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_051013432S → F1 PublicationCorresponds to variant dbSNP:rs3770436Ensembl.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_0113001 – 68Missing in isoform 2. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_0543641 – 21MGSSQ…YHVLR → MREGSSTLSEIRKLKPGIMV CTCNPSYSNQETE in isoform 3. 1 PublicationAdd BLAST21

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
AK027349 mRNA Translation: BAB55054.1
AK023082 mRNA Translation: BAB14395.1
AK023201 mRNA Translation: BAB14459.1
AK296698 mRNA Translation: BAG59292.1
AL117430 mRNA Translation: CAB55919.1
AC010092 Genomic DNA Translation: AAY15076.1
CH471058 Genomic DNA Translation: EAX11227.1
BC007770 mRNA Translation: AAH07770.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33325.1 [Q9H8Y8-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T17229

NCBI Reference Sequences

More...
RefSeqi
NP_001188357.1, NM_001201428.1 [Q9H8Y8-2]
NP_056345.3, NM_015530.4 [Q9H8Y8-1]
XP_006712471.1, XM_006712408.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000234160; ENSP00000234160; ENSG00000115806 [Q9H8Y8-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26003

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26003

UCSC genome browser

More...
UCSCi
uc002ugk.4, human [Q9H8Y8-1]

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
AK027349 mRNA Translation: BAB55054.1
AK023082 mRNA Translation: BAB14395.1
AK023201 mRNA Translation: BAB14459.1
AK296698 mRNA Translation: BAG59292.1
AL117430 mRNA Translation: CAB55919.1
AC010092 Genomic DNA Translation: AAY15076.1
CH471058 Genomic DNA Translation: EAX11227.1
BC007770 mRNA Translation: AAH07770.1
CCDSiCCDS33325.1 [Q9H8Y8-1]
PIRiT17229
RefSeqiNP_001188357.1, NM_001201428.1 [Q9H8Y8-2]
NP_056345.3, NM_015530.4 [Q9H8Y8-1]
XP_006712471.1, XM_006712408.2

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
3RLEX-ray1.65A2-208[»]
4EDJX-ray1.90A/B1-208[»]
SMRiQ9H8Y8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117479, 203 interactors
IntActiQ9H8Y8, 157 interactors
MINTiQ9H8Y8
STRINGi9606.ENSP00000234160

PTM databases

iPTMnetiQ9H8Y8
MetOSiteiQ9H8Y8
PhosphoSitePlusiQ9H8Y8
SwissPalmiQ9H8Y8

Polymorphism and mutation databases

BioMutaiGORASP2
DMDMi51316097

Proteomic databases

EPDiQ9H8Y8
jPOSTiQ9H8Y8
MassIVEiQ9H8Y8
MaxQBiQ9H8Y8
PaxDbiQ9H8Y8
PeptideAtlasiQ9H8Y8
PRIDEiQ9H8Y8
ProteomicsDBi4483
81257 [Q9H8Y8-1]
81258 [Q9H8Y8-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
33839, 286 antibodies

The DNASU plasmid repository

More...
DNASUi
26003

Genome annotation databases

EnsembliENST00000234160; ENSP00000234160; ENSG00000115806 [Q9H8Y8-1]
GeneIDi26003
KEGGihsa:26003
UCSCiuc002ugk.4, human [Q9H8Y8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26003
DisGeNETi26003
EuPathDBiHostDB:ENSG00000115806.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GORASP2
HGNCiHGNC:17500, GORASP2
HPAiENSG00000115806, Tissue enriched (testis)
MIMi608693, gene
neXtProtiNX_Q9H8Y8
OpenTargetsiENSG00000115806
PharmGKBiPA38457

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3834, Eukaryota
GeneTreeiENSGT00390000008686
HOGENOMiCLU_025095_5_0_1
InParanoidiQ9H8Y8
OMAiPTPHLMP
OrthoDBi1366434at2759
PhylomeDBiQ9H8Y8
TreeFamiTF314053

Enzyme and pathway databases

PathwayCommonsiQ9H8Y8
ReactomeiR-HSA-162658, Golgi Cisternae Pericentriolar Stack Reorganization
SIGNORiQ9H8Y8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
26003, 6 hits in 885 CRISPR screens

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

More...
ChiTaRSi
GORASP2, human
EvolutionaryTraceiQ9H8Y8

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GORASP2

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

More...
GenomeRNAii
26003
PharosiQ9H8Y8, Tbio

Protein Ontology

More...
PROi
PR:Q9H8Y8
RNActiQ9H8Y8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115806, Expressed in sperm and 248 other tissues
ExpressionAtlasiQ9H8Y8, baseline and differential
GenevisibleiQ9H8Y8, HS

Family and domain databases

Gene3Di2.30.42.10, 2 hits
InterProiView protein in InterPro
IPR024958, GRASP55/65_PDZ
IPR007583, GRASP55_65
IPR036034, PDZ_sf
PANTHERiPTHR12893, PTHR12893, 1 hit
PfamiView protein in Pfam
PF04495, GRASP55_65, 1 hit
SUPFAMiSSF50156, SSF50156, 2 hits
PROSITEiView protein in PROSITE
PS51865, PDZ_GRASP, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiGORS2_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: Q9H8Y8
Secondary accession number(s): B4DKT0
, Q53TE3, Q96I74, Q96K84, Q9H946, Q9UFW4
<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: August 16, 2004
Last sequence update: January 23, 2007
Last modified: October 7, 2020
This is version 172 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

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