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UniProtKB - Q9UQ90 (SPG7_HUMAN)

Entry version 198 (16 Oct 2019)
Sequence version 2 (17 Oct 2006)
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Protein

Paraplegin

Gene

SPG7

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

ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735).Curated1 Publication

Caution

A CDS in the 3'-UTR of SPG7 mRNA had been erroneously identified as a cell matrix adhesion regulator and originally thought to be encoded by the CMAR gene. There is no experimental evidence for the production of endogenous CMAR protein.Curated

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei312ATP; via amide nitrogen and carbonyl oxygen1
Binding sitei492ATPCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi574Zinc; catalyticBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei575By similarity1
Metal bindingi578Zinc; catalyticBy similarity1
Metal bindingi650Zinc; catalyticBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi349 – 357ATPCombined sources1 Publication9

<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 functionHydrolase, Metalloprotease, Protease
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.4.24.B18 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8949664 Processing of SMDT1

Protein family/group databases

MEROPS protease database

More...MEROPSi		M41.006

<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:
ParapleginBy similarity (EC:3.4.24.-)
Alternative name(s):
Cell matrix adhesion regulatorImported
Spastic paraplegia 7 proteinImported
<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:SPG7Imported
Synonyms:CAR, CMARImported, PGN
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11237 SPG7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602783 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UQ90

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini106 – 144Mitochondrial matrixSequence analysisAdd BLAST39
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei145 – 165HelicalSequence analysisAdd BLAST21
Topological domaini166 – 248Mitochondrial intermembraneSequence analysisAdd BLAST83
Transmembranei249 – 269HelicalSequence analysisAdd BLAST21
Topological domaini270 – 795Mitochondrial matrixSequence analysisAdd BLAST526

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner 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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic paraplegia 7, autosomal recessive (SPG7)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.
Related information in OMIM
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_063607349G → S in SPG7; function impaired. 1 PublicationCorresponds to variant dbSNP:rs141659620EnsemblClinVar.1
Natural variantiVAR_063609510A → V in SPG7; function impaired. 3 PublicationsCorresponds to variant dbSNP:rs61755320EnsemblClinVar.1
Natural variantiVAR_063611581Missing in SPG7. 1 Publication1
Natural variantiVAR_063612583W → C in SPG7; function impaired. 1 PublicationCorresponds to variant dbSNP:rs267607085EnsemblClinVar.1
Natural variantiVAR_045898692S → T in SPG7. 1 PublicationCorresponds to variant dbSNP:rs121918357EnsemblClinVar.1
Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera.1 Publication

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>Mutagenesisi574H → G: Loss of proteolytic activity but no loss of interaction with PPIF; when associated with G-575 and S-577. 1 Publication1
Mutagenesisi575E → G: Loss of proteolytic activity but no loss of interaction with PPIF; when associated with G-574 and S-577. 1 Publication1
Mutagenesisi577G → S: No loss of interaction with PPIF. Loss of proteolytic activity but no loss of interaction with PPIF; when associated with G-574 and G-575. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration, Osteogenesis imperfecta

Organism-specific databases

DisGeNET

More...DisGeNETi		6687

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SPG7

MalaCards human disease database

More...MalaCardsi		SPG7
MIMi607259 phenotype

Open Targets

More...OpenTargetsi		ENSG00000197912

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		35689 Primary lateral sclerosis
99013 Spastic paraplegia type 7

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36067

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UQ90

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SPG7

Domain mapping of disease mutations (DMDM)

More...DMDMi		116242796

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 43MitochondrionBy similarityAdd BLAST43
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000044230544 – 105Removed in mature formBy similarityAdd BLAST62
<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_0000084675106 – 795ParapleginAdd BLAST690

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 residuei505Nitrated tyrosineBy similarity1

<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

Upon import into the mitochondrion, the N-terminal transit peptide is cleaved by the mitochondrial-processing peptidase (MPP) to generate an intermediate form which undergoes a second proteolytic cleavage mediated by proteases AFG3L1 and/or AFG3L2 removing an additional N-terminal fragment to generate the proteolytically active mature form.By similarity

Keywords - PTMi

Nitration

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UQ90

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UQ90

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UQ90

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

More...PaxDbi		Q9UQ90

PeptideAtlas

More...PeptideAtlasi		Q9UQ90

PRoteomics IDEntifications database

More...PRIDEi		Q9UQ90

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		85528 [Q9UQ90-1]
85529 [Q9UQ90-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UQ90

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

More...PhosphoSitePlusi		Q9UQ90

<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

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000197912 Expressed in 230 organ(s), highest expression level in left lobe of thyroid gland

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UQ90 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UQ90 HS

<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

Forms heterooligomers with AFG3L1 and AFG3L2 (By similarity).

Component of the mitochondrial permeability transition pore complex (mPTPC), at least composed of SPG7, VDAC1 and PPIF (PubMed:26387735).

Interacts with AFG3L2; the interaction is required for the efficient assembly of mitochondrial complex I (PubMed:14623864, PubMed:26387735).

Interacts with AFG3L1 (By similarity).

Interacts with MAIP1 (PubMed:27499296).

Interacts with VDAC1 and PPIF (PubMed:26387735).

By similarity3 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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112565, 60 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9UQ90

Protein interaction database and analysis system

More...IntActi		Q9UQ90, 53 interactors

Molecular INTeraction database

More...MINTi		Q9UQ90

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000268704

<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

1795
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		Q9UQ90

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		Q9UQ90

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni701 – 795Interaction with PPIF1 PublicationAdd BLAST95

<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

In the N-terminal section; belongs to the AAA ATPase family.Curated
In the C-terminal section; belongs to the peptidase M41 family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0731 Eukaryota
COG0465 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156329

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000217277

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UQ90

KEGG Orthology (KO)

More...KOi		K09552

Identification of Orthologs from Complete Genome Data

More...OMAi		TRMKSMK

Database of Orthologous Groups

More...OrthoDBi		217929at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UQ90

TreeFam database of animal gene trees

More...TreeFami		TF105003

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.58.760, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_01458 FtsH, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003593 AAA+_ATPase
IPR041569 AAA_lid_3
IPR003959 ATPase_AAA_core
IPR005936 FtsH
IPR027417 P-loop_NTPase
IPR011546 Pept_M41_FtsH_extracell
IPR000642 Peptidase_M41
IPR037219 Peptidase_M41-like

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00004 AAA, 1 hit
PF17862 AAA_lid_3, 1 hit
PF06480 FtsH_ext, 1 hit
PF01434 Peptidase_M41, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00382 AAA, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF140990 SSF140990, 1 hit
SSF52540 SSF52540, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR01241 FtsH_fam, 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>Sequences (2+)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.

<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 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 2 <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 2 described isoforms and 42 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UQ90-1) [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
MAVLLLLLRA LRRGPGPGPR PLWGPGPAWS PGFPARPGRG RPYMASRPPG 
        60         70         80         90        100
DLAEAGGRAL QSLQLRLLTP TFEGINGLLL KQHLVQNPVR LWQLLGGTFY 
       110        120        130        140        150
FNTSRLKQKN KEKDKSKGKA PEEDEEERRR RERDDQMYRE RLRTLLVIAV 
       160        170        180        190        200
VMSLLNALST SGGSISWNDF VHEMLAKGEV QRVQVVPESD VVEVYLHPGA 
       210        220        230        240        250
VVFGRPRLAL MYRMQVANID KFEEKLRAAE DELNIEAKDR IPVSYKRTGF 
       260        270        280        290        300
FGNALYSVGM TAVGLAILWY VFRLAGMTGR EGGFSAFNQL KMARFTIVDG 
       310        320        330        340        350
KMGKGVSFKD VAGMHEAKLE VREFVDYLKS PERFLQLGAK VPKGALLLGP 
       360        370        380        390        400
PGCGKTLLAK AVATEAQVPF LAMAGPEFVE VIGGLGAARV RSLFKEARAR 
       410        420        430        440        450
APCIVYIDEI DAVGKKRSTT MSGFSNTEEE QTLNQLLVEM DGMGTTDHVI 
       460        470        480        490        500
VLASTNRADI LDGALMRPGR LDRHVFIDLP TLQERREIFE QHLKSLKLTQ 
       510        520        530        540        550
SSTFYSQRLA ELTPGFSGAD IANICNEAAL HAAREGHTSV HTLNFEYAVE 
       560        570        580        590        600
RVLAGTAKKS KILSKEEQKV VAFHESGHAL VGWMLEHTEA VMKVSITPRT 
       610        620        630        640        650
NAALGFAQML PRDQHLFTKE QLFERMCMAL GGRASEALSF NEVTSGAQDD 
       660        670        680        690        700
LRKVTRIAYS MVKQFGMAPG IGPISFPEAQ EGLMGIGRRP FSQGLQQMMD 
       710        720        730        740        750
HEARLLVAKA YRHTEKVLQD NLDKLQALAN ALLEKEVINY EDIEALIGPP 
       760        770        780        790 
PHGPKKMIAP QRWIDAQREK QDLGEEETEE TQQPPLGGEE PTWPK
Length:795
Mass (Da):88,235
Last modified:October 17, 2006 - v2
<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:i453D4BF8553A0632
GO
Isoform 2 (identifier: Q9UQ90-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     443-489: MGTTDHVIVL...PTLQERREIF → ASLDQLPSQG...HSLCWGCLLH
     490-795: Missing.

Note: No experimental confirmation available.
Show »
Length:489
Mass (Da):53,940
Checksum:i32CDE9E69A1918F9
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 42 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y726A0A2R8Y726_HUMAN
Paraplegin
SPG7
659Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4Y7A0A2R8Y4Y7_HUMAN
Paraplegin
SPG7
751Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7B8A0A2R8Y7B8_HUMAN
Paraplegin
SPG7
681Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YFW4A0A2R8YFW4_HUMAN
Paraplegin
SPG7
780Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2U3TZH1A0A2U3TZH1_HUMAN
Paraplegin
SPG7
788Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDQ1A0A2R8YDQ1_HUMAN
Paraplegin
SPG7
758Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6K2A0A2R8Y6K2_HUMAN
Paraplegin
SPG7
641Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y3M4A0A2R8Y3M4_HUMAN
Paraplegin
SPG7
809Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y632A0A2R8Y632_HUMAN
Paraplegin
SPG7
463Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7E2A0A2R8Y7E2_HUMAN
Paraplegin
SPG7
617Annotation score:

Annotation score:2 out of 5

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

<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 AAH35929 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BC007692 differs from that shown. Reason: Erroneous termination. Truncated C-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 conflicti12R → G in AAD28099 (PubMed:10480368).Curated1
Sequence conflicti376P → A in AAH36104 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0636032A → T1 PublicationCorresponds to variant dbSNP:rs535030441EnsemblClinVar.1
Natural variantiVAR_06360482Missing Might be implicated in the hereditary spastic paraplegia phenotype. 1 Publication1
Natural variantiVAR_063605284F → P Requires 2 nucleotide substitutions; might be implicated in the hereditary spastic paraplegia phenotype. 1 Publication1
Natural variantiVAR_063606294R → H1 PublicationCorresponds to variant dbSNP:rs115661328EnsemblClinVar.1
Natural variantiVAR_063607349G → S in SPG7; function impaired. 1 PublicationCorresponds to variant dbSNP:rs141659620EnsemblClinVar.1
Natural variantiVAR_063608486R → Q. Corresponds to variant dbSNP:rs111475461EnsemblClinVar.1
Natural variantiVAR_017433503T → A Neutral polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs2292954EnsemblClinVar.1
Natural variantiVAR_063609510A → V in SPG7; function impaired. 3 PublicationsCorresponds to variant dbSNP:rs61755320EnsemblClinVar.1
Natural variantiVAR_063610545F → L1 PublicationCorresponds to variant dbSNP:rs758338586Ensembl.1
Natural variantiVAR_063611581Missing in SPG7. 1 Publication1
Natural variantiVAR_063612583W → C in SPG7; function impaired. 1 PublicationCorresponds to variant dbSNP:rs267607085EnsemblClinVar.1
Natural variantiVAR_063613603A → T1 PublicationCorresponds to variant dbSNP:rs370852816EnsemblClinVar.1
Natural variantiVAR_048117623F → C. Corresponds to variant dbSNP:rs17783943Ensembl.1
Natural variantiVAR_063614635S → L Might be implicated in the hereditary spastic paraplegia phenotype. 1 PublicationCorresponds to variant dbSNP:rs864622507EnsemblClinVar.1
Natural variantiVAR_059086645S → T1 PublicationCorresponds to variant dbSNP:rs2099104EnsemblClinVar.1
Natural variantiVAR_063615650D → H Might be implicated in the hereditary spastic paraplegia phenotype. 1 Publication1
Natural variantiVAR_017434688R → Q Neutral polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs12960EnsemblClinVar.1
Natural variantiVAR_045898692S → T in SPG7. 1 PublicationCorresponds to variant dbSNP:rs121918357EnsemblClinVar.1
Natural variantiVAR_048118730N → D1 PublicationCorresponds to variant dbSNP:rs35749032EnsemblClinVar.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_009192443 – 489MGTTD…RREIF → ASLDQLPSQGTMRKLRGKTP ACSCLTEPTGSRRAMEGHSL CWGCLLH in isoform 2. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_009193490 – 795Missing in isoform 2. 1 PublicationAdd BLAST306

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
Y16610 mRNA Translation: CAA76314.1
AF080525
, AF080511, AF080512, AF080513, AF080514, AF080515, AF080516, AF080517, AF080518, AF080519, AF080520, AF080521, AF080522, AF080523, AF080524 Genomic DNA Translation: AAD28099.1
BC007692 mRNA No translation available.
BC035929 mRNA Translation: AAH35929.1 Different initiation.
BC036104 mRNA Translation: AAH36104.1
BC110530 mRNA No translation available.
BC110531 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10977.1 [Q9UQ90-1]
CCDS10978.1 [Q9UQ90-2]

NCBI Reference Sequences

More...RefSeqi		NP_003110.1, NM_003119.3 [Q9UQ90-1]
NP_955399.1, NM_199367.2 [Q9UQ90-2]
XP_016879088.1, XM_017023599.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000341316; ENSP00000341157; ENSG00000197912 [Q9UQ90-2]
ENST00000645818; ENSP00000495795; ENSG00000197912 [Q9UQ90-1]
ENST00000646263; ENSP00000494119; ENSG00000197912 [Q9UQ90-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6687

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6687

UCSC genome browser

More...UCSCi		uc002fni.4 human [Q9UQ90-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Osteogenesis imperfecta variant database

Paraplegin (SPG7)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y16610 mRNA Translation: CAA76314.1
AF080525
, AF080511, AF080512, AF080513, AF080514, AF080515, AF080516, AF080517, AF080518, AF080519, AF080520, AF080521, AF080522, AF080523, AF080524 Genomic DNA Translation: AAD28099.1
BC007692 mRNA No translation available.
BC035929 mRNA Translation: AAH35929.1 Different initiation.
BC036104 mRNA Translation: AAH36104.1
BC110530 mRNA No translation available.
BC110531 mRNA No translation available.
CCDSiCCDS10977.1 [Q9UQ90-1]
CCDS10978.1 [Q9UQ90-2]
RefSeqiNP_003110.1, NM_003119.3 [Q9UQ90-1]
NP_955399.1, NM_199367.2 [Q9UQ90-2]
XP_016879088.1, XM_017023599.1

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
2QZ4X-ray2.22A305-565[»]
SMRiQ9UQ90
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi112565, 60 interactors
CORUMiQ9UQ90
IntActiQ9UQ90, 53 interactors
MINTiQ9UQ90
STRINGi9606.ENSP00000268704

Protein family/group databases

MEROPSiM41.006

PTM databases

iPTMnetiQ9UQ90
PhosphoSitePlusiQ9UQ90

Polymorphism and mutation databases

BioMutaiSPG7
DMDMi116242796

Proteomic databases

EPDiQ9UQ90
jPOSTiQ9UQ90
MassIVEiQ9UQ90
PaxDbiQ9UQ90
PeptideAtlasiQ9UQ90
PRIDEiQ9UQ90
ProteomicsDBi85528 [Q9UQ90-1]
85529 [Q9UQ90-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		6687

Genome annotation databases

EnsembliENST00000341316; ENSP00000341157; ENSG00000197912 [Q9UQ90-2]
ENST00000645818; ENSP00000495795; ENSG00000197912 [Q9UQ90-1]
ENST00000646263; ENSP00000494119; ENSG00000197912 [Q9UQ90-2]
GeneIDi6687
KEGGihsa:6687
UCSCiuc002fni.4 human [Q9UQ90-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6687
DisGeNETi6687

GeneCards: human genes, protein and diseases

More...GeneCardsi		SPG7
GeneReviewsiSPG7
HGNCiHGNC:11237 SPG7
MalaCardsiSPG7
MIMi602783 gene
607259 phenotype
neXtProtiNX_Q9UQ90
OpenTargetsiENSG00000197912
Orphaneti35689 Primary lateral sclerosis
99013 Spastic paraplegia type 7
PharmGKBiPA36067

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0731 Eukaryota
COG0465 LUCA
GeneTreeiENSGT00940000156329
HOGENOMiHOG000217277
InParanoidiQ9UQ90
KOiK09552
OMAiTRMKSMK
OrthoDBi217929at2759
PhylomeDBiQ9UQ90
TreeFamiTF105003

Enzyme and pathway databases

BRENDAi3.4.24.B18 2681
ReactomeiR-HSA-8949664 Processing of SMDT1

Miscellaneous databases

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

More...ChiTaRSi		SPG7 human
EvolutionaryTraceiQ9UQ90

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Paraplegin
SPG7

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

More...GenomeRNAii		6687
PharosiQ9UQ90

Protein Ontology

More...PROi		PR:Q9UQ90

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000197912 Expressed in 230 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiQ9UQ90 baseline and differential
GenevisibleiQ9UQ90 HS

Family and domain databases

Gene3Di1.20.58.760, 1 hit
HAMAPiMF_01458 FtsH, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR041569 AAA_lid_3
IPR003959 ATPase_AAA_core
IPR005936 FtsH
IPR027417 P-loop_NTPase
IPR011546 Pept_M41_FtsH_extracell
IPR000642 Peptidase_M41
IPR037219 Peptidase_M41-like
PfamiView protein in Pfam
PF00004 AAA, 1 hit
PF17862 AAA_lid_3, 1 hit
PF06480 FtsH_ext, 1 hit
PF01434 Peptidase_M41, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF140990 SSF140990, 1 hit
SSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR01241 FtsH_fam, 1 hit

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 nameiSPG7_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: Q9UQ90
Secondary accession number(s): O75756
, Q2TB70, Q58F00, Q96IB0
<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: April 27, 2001
Last sequence update: October 17, 2006
Last modified: October 16, 2019
This is version 198 of the entry and version 2 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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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