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UniProtKB - Q8TEQ6 (GEMI5_HUMAN)

Entry version 184 (29 Sep 2021)
Sequence version 3 (18 May 2010)
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Protein

Gem-associated protein 5

Gene

GEMIN5

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

The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:16857593, PubMed:18984161, PubMed:20513430).

Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161).

To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate (PubMed:18984161).

Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP. Within the SMN complex, GEMIN5 recognizes and delivers the small nuclear RNAs (snRNAs) to the SMN complex (PubMed:11714716, PubMed:16857593, PubMed:19377484, PubMed:19750007, PubMed:20513430, PubMed:27834343, PubMed:27881600, PubMed:27881601, PubMed:16314521).

Binds to the 7-methylguanosine cap of RNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref. 27).

Binds to the 3'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability (PubMed:25911097).

May play a role in the regulation of protein synthesis via its interaction with ribosomes (PubMed:27507887).

13 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 - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing, Protein biosynthesis, Translation regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8TEQ6

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-191859, snRNP Assembly

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q8TEQ6

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8TEQ6

<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:
Gem-associated protein 5
Short name:
Gemin5
<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:GEMIN5
<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 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:20043, GEMIN5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607005, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8TEQ6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000082516

<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, Nucleus

<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>Mutagenesisi14W → A: Abolishes interaction with U4 snRNA. No effect on interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules. No effect on interaction with 80S ribosomes. 4 Publications1
Mutagenesisi15Y → A: Abolishes interaction with U4 snRNA. No effect on interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules. No effect on interaction with 80S ribosomes. 4 Publications1
Mutagenesisi33R → A: Abolishes interaction with U4 snRNA. 1 Publication1
Mutagenesisi197E → A: Abolishes interaction with U4 snRNA. 1 Publication1
Mutagenesisi271 – 273KRR → AAA: No effect in interaction with U4 snRNA. No effect on interaction with SMN complex. 1 Publication3
Mutagenesisi286W → A: Abolishes interaction with U4 snRNA. Abolishes interaction with the 7-methylguanosine cap of RNA molecules. No effect on interaction with SMN complex. 2 Publications1
Mutagenesisi290H → A: No effect in interaction with U4 snRNA. No effect on interaction with SMN complex. 1 Publication1
Mutagenesisi335R → E: Abolishes interaction with U4 snRNA. 1 Publication1
Mutagenesisi359R → A: Abolishes interaction with U4 snRNA. 1 Publication1
Mutagenesisi381F → A: Strongly decreases interaction with U4 snRNA. No effect on interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules. Abolishes interaction with 80S ribosomes. 3 Publications1
Mutagenesisi381F → D: Abolishes interaction with U4 snRNA. 1 Publication1
Mutagenesisi422W → E: Abolishes interaction with U4 snRNA. 1 Publication1
Mutagenesisi474Y → A: Abolishes interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules. 2 Publications1
Mutagenesisi641K → A: Abolishes interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules. 2 Publications1
Mutagenesisi660Y → A: Abolishes interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules. 1 Publication1
Mutagenesisi684R → A: Abolishes interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		25929

Open Targets

More...OpenTargetsi		ENSG00000082516

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134945791

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8TEQ6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GEMIN5

Domain mapping of disease mutations (DMDM)

More...DMDMi		296439335

<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_00000510041 – 1508Gem-associated protein 5Add BLAST1508

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 residuei48PhosphoserineCombined sources1
Modified residuei51PhosphothreonineCombined sources1
Modified residuei624PhosphoserineCombined sources1
Modified residuei751PhosphothreonineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki754Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei757PhosphoserineCombined sources1
Modified residuei770PhosphoserineCombined sources1
Modified residuei778PhosphoserineCombined sources1
Modified residuei847PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8TEQ6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8TEQ6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8TEQ6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8TEQ6

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

More...PaxDbi		Q8TEQ6

PeptideAtlas

More...PeptideAtlasi		Q8TEQ6

PRoteomics IDEntifications database

More...PRIDEi		Q8TEQ6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		74478

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8TEQ6, 2 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8TEQ6

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

More...PhosphoSitePlusi		Q8TEQ6

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8TEQ6

<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		ENSG00000082516, Expressed in oocyte and 198 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8TEQ6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000082516, 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_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

Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:20513430, PubMed:27507887, PubMed:16314521, PubMed:19377484, PubMed:17178713). Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG (PubMed:11714716, PubMed:20513430, PubMed:16314521).

Interacts with GEMIN2; the interaction is direct (PubMed:17178713).

Interacts with SMN1, SNRPB, SNRPD1, SNRPD2, SNRPD3 and SNRPE; the interaction is direct (PubMed:11714716).

Interacts with cytosolic DDX20/GEMIN3 and GEMIN4 (PubMed:19750007, PubMed:27507887).

Interacts with SNRNP70 and HNRNPU (PubMed:27507887).

Identified in a complex with 80S ribosomes; binds to the 60S large ribosomal subunit (PubMed:27507887).

Interacts with the ribosomal subunits RPL3 and RPL4 (PubMed:27507887).

7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei33Interaction with U4 snRNACombined sources3 Publications1
Sitei284Interaction with U4 snRNACombined sources2 Publications1
Sitei335Interaction with U4 snRNACombined sources2 Publications1
Sitei359Interaction with U4 snRNACombined sources3 Publications1
Sitei381Interaction with U4 snRNACombined sources3 Publications1
Sitei422Interaction with U4 snRNACombined sources2 Publications1
Sitei426Interaction with U4 snRNACombined sources1 Publication1
Sitei470Interaction with U4 snRNACombined sources1 Publication1
Sitei474Interaction with U4 snRNA and with the 7-methylguanosine cap of RNA moleculesCombined sources3 Publications1
Sitei556Interaction with U4 snRNACombined sources1 Publication1
Sitei579Interaction with U4 snRNACombined sources1 Publication1
Sitei641Interaction with U4 snRNA and with the 7-methylguanosine cap of RNA moleculesCombined sources3 Publications1
Sitei660Interaction with U4 snRNA and with the 7-methylguanosine cap of RNA moleculesCombined sources3 Publications1
Sitei684Interaction with U4 snRNA and with the 7-methylguanosine cap of RNA moleculesCombined sources3 Publications1

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117429, 147 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6031, SMN complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8TEQ6

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q8TEQ6

Protein interaction database and analysis system

More...IntActi		Q8TEQ6, 67 interactors

Molecular INTeraction database

More...MINTi		Q8TEQ6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000285873

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8TEQ6, 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

11508
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		Q8TEQ6

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati62 – 104WD 1Add BLAST43
Repeati107 – 148WD 2Add BLAST42
Repeati150 – 189WD 3Add BLAST40
Repeati193 – 264WD 4Add BLAST72
Repeati280 – 321WD 5Add BLAST42
Repeati333 – 374WD 6Add BLAST42
Repeati377 – 417WD 7Add BLAST41
Repeati424 – 464WD 8Add BLAST41
Repeati468 – 509WD 9Add BLAST42
Repeati533 – 573WD 10Add BLAST41
Repeati576 – 622WD 11Add BLAST47
Repeati637 – 677WD 12Add BLAST41
Repeati680 – 720WD 13Add BLAST41

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 – 124Important for interaction with U1 snRNA1 PublicationAdd BLAST124
Regioni13 – 15Interaction with U4 snRNACombined sources3 Publications3
Regioni715 – 790DisorderedSequence analysisAdd BLAST76
Regioni1313 – 1343DisorderedSequence analysisAdd BLAST31
Regioni1389 – 1428DisorderedSequence analysisAdd BLAST40

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1362 – 1393Sequence analysisAdd BLAST32

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi721 – 735Basic and acidic residuesSequence analysisAdd BLAST15
Compositional biasi750 – 769Basic and acidic residuesSequence analysisAdd BLAST20
Compositional biasi1313 – 1337Polar residuesSequence analysisAdd BLAST25
Compositional biasi1411 – 1425Polar residuesSequence analysisAdd BLAST15

<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 WD repeat domain mediates binding to U1 snRNA and to U4 snRNA (PubMed:19377484, PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601). The WD repeat domain also mediates binding to the 7-methylguanosine cap that is found both on mRNA and snRNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref. 27). The regions that bind snRNA molecules and the isolated 7-methylguanosine cap overlap at least partially (PubMed:27834343, PubMed:27881600, PubMed:27881601). Besides, the WD repeat domain mediates interaction with the 60S large ribosomal subunit (PubMed:27507887).7 Publications

<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 WD repeat gemin-5 family.Curated

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QPYZ, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00620000088064

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_004491_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8TEQ6

Identification of Orthologs from Complete Genome Data

More...OMAi		TEISWKP

Database of Orthologous Groups

More...OrthoDBi		283127at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8TEQ6

TreeFam database of animal gene trees

More...TreeFami		TF328886

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR024977, Apc4_WD40_dom
IPR020472, G-protein_beta_WD-40_rep
IPR011047, Quinoprotein_ADH-like_supfam
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR019775, WD40_repeat_CS
IPR036322, WD40_repeat_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12894, ANAPC4_WD40, 2 hits
PF00400, WD40, 3 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00320, GPROTEINBRPT

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00320, WD40, 12 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978, SSF50978, 1 hit
SSF50998, SSF50998, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00678, WD_REPEATS_1, 3 hits
PS50082, WD_REPEATS_2, 3 hits
PS50294, WD_REPEATS_REGION, 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>. 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>Sequencei

<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.

Q8TEQ6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGQEPRTLPP SPNWYCARCS DAVPGGLFGF AARTSVFLVR VGPGAGESPG 
        60         70         80         90        100
TPPFRVIGEL VGHTERVSGF TFSHHPGQYN LCATSSDDGT VKIWDVETKT 
       110        120        130        140        150
VVTEHALHQH TISTLHWSPR VKDLIVSGDE KGVVFCYWFN RNDSQHLFIE 
       160        170        180        190        200
PRTIFCLTCS PHHEDLVAIG YKDGIVVIID ISKKGEVIHR LRGHDDEIHS 
       210        220        230        240        250
IAWCPLPGED CLSINQEETS EEAEITNGNA VAQAPVTKGC YLATGSKDQT 
       260        270        280        290        300
IRIWSCSRGR GVMILKLPFL KRRGGGIDPT VKERLWLTLH WPSNQPTQLV 
       310        320        330        340        350
SSCFGGELLQ WDLTQSWRRK YTLFSASSEG QNHSRIVFNL CPLQTEDDKQ 
       360        370        380        390        400
LLLSTSMDRD VKCWDIATLE CSWTLPSLGG FAYSLAFSSV DIGSLAIGVG 
       410        420        430        440        450
DGMIRVWNTL SIKNNYDVKN FWQGVKSKVT ALCWHPTKEG CLAFGTDDGK 
       460        470        480        490        500
VGLYDTYSNK PPQISSTYHK KTVYTLAWGP PVPPMSLGGE GDRPSLALYS 
       510        520        530        540        550
CGGEGIVLQH NPWKLSGEAF DINKLIRDTN SIKYKLPVHT EISWKADGKI 
       560        570        580        590        600
MALGNEDGSI EIFQIPNLKL ICTIQQHHKL VNTISWHHEH GSQPELSYLM 
       610        620        630        640        650
ASGSNNAVIY VHNLKTVIES SPESPVTITE PYRTLSGHTA KITSVAWSPH 
       660        670        680        690        700
HDGRLVSASY DGTAQVWDAL REEPLCNFRG HRGRLLCVAW SPLDPDCIYS 
       710        720        730        740        750
GADDFCVHKW LTSMQDHSRP PQGKKSIELE KKRLSQPKAK PKKKKKPTLR 
       760        770        780        790        800
TPVKLESIDG NEEESMKENS GPVENGVSDQ EGEEQAREPE LPCGLAPAVS 
       810        820        830        840        850
REPVICTPVS SGFEKSKVTI NNKVILLKKE PPKEKPETLI KKRKARSLLP 
       860        870        880        890        900
LSTSLDHRSK EELHQDCLVL ATAKHSRELN EDVSADVEER FHLGLFTDRA 
       910        920        930        940        950
TLYRMIDIEG KGHLENGHPE LFHQLMLWKG DLKGVLQTAA ERGELTDNLV 
       960        970        980        990       1000
AMAPAAGYHV WLWAVEAFAK QLCFQDQYVK AASHLLSIHK VYEAVELLKS 
      1010       1020       1030       1040       1050
NHFYREAIAI AKARLRPEDP VLKDLYLSWG TVLERDGHYA VAAKCYLGAT 
      1060       1070       1080       1090       1100
CAYDAAKVLA KKGDAASLRT AAELAAIVGE DELSASLALR CAQELLLANN 
      1110       1120       1130       1140       1150
WVGAQEALQL HESLQGQRLV FCLLELLSRH LEEKQLSEGK SSSSYHTWNT 
      1160       1170       1180       1190       1200
GTEGPFVERV TAVWKSIFSL DTPEQYQEAF QKLQNIKYPS ATNNTPAKQL 
      1210       1220       1230       1240       1250
LLHICHDLTL AVLSQQMASW DEAVQALLRA VVRSYDSGSF TIMQEVYSAF 
      1260       1270       1280       1290       1300
LPDGCDHLRD KLGDHQSPAT PAFKSLEAFF LYGRLYEFWW SLSRPCPNSS 
      1310       1320       1330       1340       1350
VWVRAGHRTL SVEPSQQLDT ASTEETDPET SQPEPNRPSE LDLRLTEEGE 
      1360       1370       1380       1390       1400
RMLSTFKELF SEKHASLQNS QRTVAEVQET LAEMIRQHQK SQLCKSTANG 
      1410       1420       1430       1440       1450
PDKNEPEVEA EQPLCSSQSQ CKEEKNEPLS LPELTKRLTE ANQRMAKFPE 
      1460       1470       1480       1490       1500
SIKAWPFPDV LECCLVLLLI RSHFPGCLAQ EMQQQAQELL QKYGNTKTYR 

RHCQTFCM
Length:1,508
Mass (Da):168,589
Last modified:May 18, 2010 - 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:iEA5293F395BBF14E
GO

<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 BAB84892 differs from that shown. Reason: Erroneous initiation. Extended 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 conflicti299L → P in BAB14222 (PubMed:14702039).Curated1
Sequence conflicti456T → A in BAB14222 (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_033807682R → Q5 PublicationsCorresponds to variant dbSNP:rs1974777Ensembl.1
Natural variantiVAR_0576041155P → S. Corresponds to variant dbSNP:rs6865950Ensembl.1

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
AY063750 mRNA Translation: AAL38980.1
AK074066 mRNA Translation: BAB84892.2 Different initiation.
AC008421 Genomic DNA No translation available.
BC008776 mRNA Translation: AAH08776.2
BC014147 mRNA Translation: AAH14147.2
BC113614 mRNA Translation: AAI13615.1
AK022748 mRNA Translation: BAB14222.1
AL117665 mRNA Translation: CAB56035.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4330.1

Protein sequence database of the Protein Information Resource

More...PIRi		T17345

NCBI Reference Sequences

More...RefSeqi		NP_001239085.1, NM_001252156.1
NP_056280.2, NM_015465.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000285873; ENSP00000285873; ENSG00000082516

Database of genes from NCBI RefSeq genomes

More...GeneIDi		25929

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:25929

UCSC genome browser

More...UCSCi		uc003lvx.4, human

<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
AY063750 mRNA Translation: AAL38980.1
AK074066 mRNA Translation: BAB84892.2 Different initiation.
AC008421 Genomic DNA No translation available.
BC008776 mRNA Translation: AAH08776.2
BC014147 mRNA Translation: AAH14147.2
BC113614 mRNA Translation: AAI13615.1
AK022748 mRNA Translation: BAB14222.1
AL117665 mRNA Translation: CAB56035.2
CCDSiCCDS4330.1
PIRiT17345
RefSeqiNP_001239085.1, NM_001252156.1
NP_056280.2, NM_015465.4

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
5GXHX-ray1.80A1-739[»]
5GXIX-ray1.85A1-739[»]
5H1JX-ray2.00A1-726[»]
5H1KX-ray1.90A/B1-726[»]
5H1LX-ray2.10A1-726[»]
5H1MX-ray2.49A1-726[»]
5H3SX-ray3.00A/B1-740[»]
5H3TX-ray2.57A/B/C/D1-740[»]
5H3UX-ray2.50A/B1-740[»]
5TEEX-ray1.65A1-739[»]
5TEFX-ray1.95A1-739[»]
5THAX-ray1.80A1-739[»]
6RNQX-ray1.95A/B845-1096[»]
6RNSX-ray2.69A/B845-1096[»]
SMRiQ8TEQ6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117429, 147 interactors
ComplexPortaliCPX-6031, SMN complex
CORUMiQ8TEQ6
ELMiQ8TEQ6
IntActiQ8TEQ6, 67 interactors
MINTiQ8TEQ6
STRINGi9606.ENSP00000285873

PTM databases

GlyGeniQ8TEQ6, 2 sites, 1 O-linked glycan (2 sites)
iPTMnetiQ8TEQ6
PhosphoSitePlusiQ8TEQ6
SwissPalmiQ8TEQ6

Genetic variation databases

BioMutaiGEMIN5
DMDMi296439335

Proteomic databases

EPDiQ8TEQ6
jPOSTiQ8TEQ6
MassIVEiQ8TEQ6
MaxQBiQ8TEQ6
PaxDbiQ8TEQ6
PeptideAtlasiQ8TEQ6
PRIDEiQ8TEQ6
ProteomicsDBi74478

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		28334, 67 antibodies

The DNASU plasmid repository

More...DNASUi		25929

Genome annotation databases

EnsembliENST00000285873; ENSP00000285873; ENSG00000082516
GeneIDi25929
KEGGihsa:25929
UCSCiuc003lvx.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		25929
DisGeNETi25929

GeneCards: human genes, protein and diseases

More...GeneCardsi		GEMIN5
HGNCiHGNC:20043, GEMIN5
HPAiENSG00000082516, Low tissue specificity
MIMi607005, gene
neXtProtiNX_Q8TEQ6
OpenTargetsiENSG00000082516
PharmGKBiPA134945791
VEuPathDBiHostDB:ENSG00000082516

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QPYZ, Eukaryota
GeneTreeiENSGT00620000088064
HOGENOMiCLU_004491_0_1_1
InParanoidiQ8TEQ6
OMAiTEISWKP
OrthoDBi283127at2759
PhylomeDBiQ8TEQ6
TreeFamiTF328886

Enzyme and pathway databases

PathwayCommonsiQ8TEQ6
ReactomeiR-HSA-191859, snRNP Assembly
SignaLinkiQ8TEQ6
SIGNORiQ8TEQ6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		25929, 726 hits in 989 CRISPR screens

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

More...ChiTaRSi		GEMIN5, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GEMIN5

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

More...GenomeRNAii		25929
PharosiQ8TEQ6, Tbio

Protein Ontology

More...PROi		PR:Q8TEQ6
RNActiQ8TEQ6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000082516, Expressed in oocyte and 198 other tissues
GenevisibleiQ8TEQ6, HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR024977, Apc4_WD40_dom
IPR020472, G-protein_beta_WD-40_rep
IPR011047, Quinoprotein_ADH-like_supfam
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR019775, WD40_repeat_CS
IPR036322, WD40_repeat_dom_sf
PfamiView protein in Pfam
PF12894, ANAPC4_WD40, 2 hits
PF00400, WD40, 3 hits
PRINTSiPR00320, GPROTEINBRPT
SMARTiView protein in SMART
SM00320, WD40, 12 hits
SUPFAMiSSF50978, SSF50978, 1 hit
SSF50998, SSF50998, 1 hit
PROSITEiView protein in PROSITE
PS00678, WD_REPEATS_1, 3 hits
PS50082, WD_REPEATS_2, 3 hits
PS50294, WD_REPEATS_REGION, 1 hit

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 nameiGEMI5_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: Q8TEQ6
Secondary accession number(s): Q14CV0
, Q8WWV4, Q969W4, Q9H9K3, Q9UFI5
<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: September 19, 2003
Last sequence update: May 18, 2010
Last modified: September 29, 2021
This is version 184 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 chromosome 5
    Human chromosome 5: 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
  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. SIMILARITY comments
    Index of protein domains and families
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