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UniProtKB - Q9NSK7 (CS012_HUMAN)

Protein

Protein C19orf12

Gene

C19orf12

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

<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

  • apoptotic process Source: UniProtKB
  • autophagy Source: UniProtKB
  • mitochondrial calcium ion homeostasis Source: UniProtKB
  • response to oxidative stress Source: UniProtKB
View the complete GO annotation on QuickGO ...

<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:
Protein C19orf12
<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:C19orf12
<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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000131943.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:25443 C19orf12

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614297 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NSK7

<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; 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 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>Transmembranei51 – 71HelicalSequence analysisAdd BLAST21

<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>Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Mitochondrion

<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

Neurodegeneration with brain iron accumulation 4 (NBIA4)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses.
See also OMIM:614298
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_06661711T → M in NBIA4. 4 PublicationsCorresponds to variant dbSNP:rs397514477EnsemblClinVar.1
Natural variantiVAR_06975639S → F in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs1204865094Ensembl.1
Natural variantiVAR_06975748A → P in NBIA4. 1 Publication1
Natural variantiVAR_06661853G → R in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs200133991EnsemblClinVar.1
Natural variantiVAR_07680358G → S in NBIA4; predominantly cytosolic distribution with a localization also seen in the mitochondrial matrix; no cytosolic redistribution seen in response to oxidative stress; patient fibroblasts accumulate high levels of mitochondrial calcium and are more prone to oxidative stress-induced apoptosis. 2 Publications1
Natural variantiVAR_06975860P → L in NBIA4. 1 Publication1
Natural variantiVAR_06661965G → E in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs752450983Ensembl.1
Natural variantiVAR_06975965G → V in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs752450983Ensembl.1
Natural variantiVAR_07066966Missing in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 2 Publications1
Natural variantiVAR_06662069G → R in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 4 PublicationsCorresponds to variant dbSNP:rs515726205EnsemblClinVar.1
Natural variantiVAR_06976083P → L in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs201987973Ensembl.1
Natural variantiVAR_07680496Q → P in NBIA4; no effect on its subcellular localization; no cytosolic redistribution seen in response to oxidative stress. 2 Publications1
Natural variantiVAR_06976198R → S in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs1384930997Ensembl.1
Natural variantiVAR_069762121L → Q in NBIA4. 1 Publication1
Natural variantiVAR_069763134A → P in NBIA4; unknown pathological significance. 1 Publication1
Spastic paraplegia 43, autosomal recessive (SPG43)1 Publication
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. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs.
See also OMIM:615043

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		83636

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

More...GeneReviewsi		C19orf12

MalaCards human disease database

More...MalaCardsi		C19orf12
MIMi614298 phenotype
615043 phenotype

Open Targets

More...OpenTargetsi		ENSG00000131943

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

More...Orphaneti		320370 Autosomal recessive spastic paraplegia type 43
289560 Mitochondrial membrane protein-associated neurodegeneration

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134981038

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		C19orf12

Domain mapping of disease mutations (DMDM)

More...DMDMi		374095505

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002966621 – 152Protein C19orf12Add BLAST152

Proteomic databases

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NSK7

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

More...PaxDbi		Q9NSK7

PeptideAtlas

More...PeptideAtlasi		Q9NSK7

PRoteomics IDEntifications database

More...PRIDEi		Q9NSK7

ProteomicsDB human proteome resource

More...ProteomicsDBi		82566
82567 [Q9NSK7-2]
82568 [Q9NSK7-3]
82569 [Q9NSK7-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NSK7

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

More...PhosphoSitePlusi		Q9NSK7

<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated during adipocyte differentiation in an in vitro preadipocyte differentiation model.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000131943 Expressed in 207 organ(s), highest expression level in endothelial cell

CleanEx database of gene expression profiles

More...CleanExi		HS_C19orf12

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NSK7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NSK7 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA046930

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		123700, 2 interactors

Protein interaction database and analysis system

More...IntActi		Q9NSK7, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000376103

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9NSK7

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IYJD Eukaryota
ENOG410YRIP LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009077

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000007731

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG054390

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NSK7

Identification of Orthologs from Complete Genome Data

More...OMAi		IHPTDVV

Database of Orthologous Groups

More...OrthoDBi		EOG091G13RF

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NSK7

TreeFam database of animal gene trees

More...TreeFami		TF323308

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR033369 C19orf12

The PANTHER Classification System

More...PANTHERi		PTHR31493 PTHR31493, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

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

This entry describes 4 <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 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 4 (identifier: Q9NSK7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MERLKSHKPA TMTIMVEDIM KLLCSLSGER KMKAAVKHSG KGALVTGAMA 
        60         70         80         90        100
FVGGLVGGPP GLAVGGAVGG LLGAWMTSGQ FKPVPQILME LPPAEQQRLF 
       110        120        130        140        150
NEAAAIIRHL EWTDAVQLTA LVMGSEALQQ QLLAMLVNYV TKELRAEIQY 

DD
Length:152
Mass (Da):16,286
Last modified:January 25, 2012 - 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:iF8C1300487F99BD5
GO
Isoform 2 (identifier: Q9NSK7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-75: Missing.

Show »
Length:77
Mass (Da):8,756
Checksum:iF720F9A34E03590C
GO
Isoform 3 (identifier: Q9NSK7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.
     109-152: HLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD → PCSSSCWPCW

Show »
Length:107
Mass (Da):11,113
Checksum:i6A96E70C52F2EC6F
GO
Isoform 1 (identifier: Q9NSK7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.

Show »
Length:141
Mass (Da):15,007
Checksum:iC6EEA8C17A909E7F
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EPS8K7EPS8_HUMAN
Protein C19orf12
C19orf12
106Annotation 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>
F8W6J3F8W6J3_HUMAN
Protein C19orf12
C19orf12
68Annotation score:

Annotation score:1 out of 5

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06661711T → M in NBIA4. 4 PublicationsCorresponds to variant dbSNP:rs397514477EnsemblClinVar.1
Natural variantiVAR_06975639S → F in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs1204865094Ensembl.1
Natural variantiVAR_06975748A → P in NBIA4. 1 Publication1
Natural variantiVAR_06661853G → R in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs200133991EnsemblClinVar.1
Natural variantiVAR_07680358G → S in NBIA4; predominantly cytosolic distribution with a localization also seen in the mitochondrial matrix; no cytosolic redistribution seen in response to oxidative stress; patient fibroblasts accumulate high levels of mitochondrial calcium and are more prone to oxidative stress-induced apoptosis. 2 Publications1
Natural variantiVAR_06975860P → L in NBIA4. 1 Publication1
Natural variantiVAR_07066863A → P in NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs376103979EnsemblClinVar.1
Natural variantiVAR_06661965G → E in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs752450983Ensembl.1
Natural variantiVAR_06975965G → V in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs752450983Ensembl.1
Natural variantiVAR_07066966Missing in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 2 Publications1
Natural variantiVAR_06662069G → R in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 4 PublicationsCorresponds to variant dbSNP:rs515726205EnsemblClinVar.1
Natural variantiVAR_06976083P → L in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs201987973Ensembl.1
Natural variantiVAR_07680496Q → P in NBIA4; no effect on its subcellular localization; no cytosolic redistribution seen in response to oxidative stress. 2 Publications1
Natural variantiVAR_06976198R → S in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs1384930997Ensembl.1
Natural variantiVAR_069762121L → Q in NBIA4. 1 Publication1
Natural variantiVAR_069763134A → P in NBIA4; unknown pathological significance. 1 Publication1
Natural variantiVAR_066621142K → E Found in families with neurodegeneration with brain iron accumulation; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs146170087EnsemblClinVar.1
Natural variantiVAR_066622142K → T2 PublicationsCorresponds to variant dbSNP:rs79915936EnsemblClinVar.1
Natural variantiVAR_069764149Q → R1 PublicationCorresponds to variant dbSNP:rs73023451EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0272271 – 75Missing in isoform 2. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_0379951 – 11Missing in isoform 1 and isoform 3. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_027228109 – 152HLEWT…IQYDD → PCSSSCWPCW in isoform 3. 1 PublicationAdd BLAST44

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
AK057185 mRNA Translation: BAG51878.1
DA708831 mRNA No translation available.
AC010513 Genomic DNA No translation available.
BC004957 mRNA Translation: AAH04957.1
BC009946 mRNA Translation: AAH09946.1
BC063518 mRNA Translation: AAH63518.1
BC017211 mRNA Translation: AAH17211.2
AL162066 mRNA Translation: CAB82403.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12418.2 [Q9NSK7-4]
CCDS42542.1 [Q9NSK7-1]
CCDS59373.1 [Q9NSK7-3]
CCDS74325.1 [Q9NSK7-2]

Protein sequence database of the Protein Information Resource

More...PIRi		T47169

NCBI Reference Sequences

More...RefSeqi		NP_001026896.2, NM_001031726.3 [Q9NSK7-1]
NP_001242975.1, NM_001256046.1 [Q9NSK7-3]
NP_001242976.1, NM_001256047.1 [Q9NSK7-4]
NP_001269858.1, NM_001282929.1 [Q9NSK7-2]
NP_001269859.1, NM_001282930.1 [Q9NSK7-2]
NP_001269860.1, NM_001282931.1 [Q9NSK7-2]
NP_113636.2, NM_031448.4 [Q9NSK7-4]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.529094

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000323670; ENSP00000313332; ENSG00000131943 [Q9NSK7-4]
ENST00000392276; ENSP00000376102; ENSG00000131943 [Q9NSK7-2]
ENST00000392278; ENSP00000376103; ENSG00000131943 [Q9NSK7-1]
ENST00000592153; ENSP00000467117; ENSG00000131943 [Q9NSK7-3]
ENST00000614091; ENSP00000482097; ENSG00000131943 [Q9NSK7-4]
ENST00000623113; ENSP00000485413; ENSG00000131943 [Q9NSK7-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		83636

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:83636

UCSC genome browser

More...UCSCi		uc002nsj.4 human [Q9NSK7-1]

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
AK057185 mRNA Translation: BAG51878.1
DA708831 mRNA No translation available.
AC010513 Genomic DNA No translation available.
BC004957 mRNA Translation: AAH04957.1
BC009946 mRNA Translation: AAH09946.1
BC063518 mRNA Translation: AAH63518.1
BC017211 mRNA Translation: AAH17211.2
AL162066 mRNA Translation: CAB82403.1
CCDSiCCDS12418.2 [Q9NSK7-4]
CCDS42542.1 [Q9NSK7-1]
CCDS59373.1 [Q9NSK7-3]
CCDS74325.1 [Q9NSK7-2]
PIRiT47169
RefSeqiNP_001026896.2, NM_001031726.3 [Q9NSK7-1]
NP_001242975.1, NM_001256046.1 [Q9NSK7-3]
NP_001242976.1, NM_001256047.1 [Q9NSK7-4]
NP_001269858.1, NM_001282929.1 [Q9NSK7-2]
NP_001269859.1, NM_001282930.1 [Q9NSK7-2]
NP_001269860.1, NM_001282931.1 [Q9NSK7-2]
NP_113636.2, NM_031448.4 [Q9NSK7-4]
UniGeneiHs.529094

3D structure databases

ProteinModelPortaliQ9NSK7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123700, 2 interactors
IntActiQ9NSK7, 2 interactors
STRINGi9606.ENSP00000376103

PTM databases

iPTMnetiQ9NSK7
PhosphoSitePlusiQ9NSK7

Polymorphism and mutation databases

BioMutaiC19orf12
DMDMi374095505

Proteomic databases

MaxQBiQ9NSK7
PaxDbiQ9NSK7
PeptideAtlasiQ9NSK7
PRIDEiQ9NSK7
ProteomicsDBi82566
82567 [Q9NSK7-2]
82568 [Q9NSK7-3]
82569 [Q9NSK7-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323670; ENSP00000313332; ENSG00000131943 [Q9NSK7-4]
ENST00000392276; ENSP00000376102; ENSG00000131943 [Q9NSK7-2]
ENST00000392278; ENSP00000376103; ENSG00000131943 [Q9NSK7-1]
ENST00000592153; ENSP00000467117; ENSG00000131943 [Q9NSK7-3]
ENST00000614091; ENSP00000482097; ENSG00000131943 [Q9NSK7-4]
ENST00000623113; ENSP00000485413; ENSG00000131943 [Q9NSK7-2]
GeneIDi83636
KEGGihsa:83636
UCSCiuc002nsj.4 human [Q9NSK7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		83636
DisGeNETi83636
EuPathDBiHostDB:ENSG00000131943.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		C19orf12
GeneReviewsiC19orf12

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0014979
HGNCiHGNC:25443 C19orf12
HPAiHPA046930
MalaCardsiC19orf12
MIMi614297 gene
614298 phenotype
615043 phenotype
neXtProtiNX_Q9NSK7
OpenTargetsiENSG00000131943
Orphaneti320370 Autosomal recessive spastic paraplegia type 43
289560 Mitochondrial membrane protein-associated neurodegeneration
PharmGKBiPA134981038

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IYJD Eukaryota
ENOG410YRIP LUCA
GeneTreeiENSGT00390000009077
HOGENOMiHOG000007731
HOVERGENiHBG054390
InParanoidiQ9NSK7
OMAiIHPTDVV
OrthoDBiEOG091G13RF
PhylomeDBiQ9NSK7
TreeFamiTF323308

Miscellaneous databases

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

More...GenomeRNAii		83636

Protein Ontology

More...PROi		PR:Q9NSK7

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000131943 Expressed in 207 organ(s), highest expression level in endothelial cell
CleanExiHS_C19orf12
ExpressionAtlasiQ9NSK7 baseline and differential
GenevisibleiQ9NSK7 HS

Family and domain databases

InterProiView protein in InterPro
IPR033369 C19orf12
PANTHERiPTHR31493 PTHR31493, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCS012_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: Q9NSK7
Secondary accession number(s): B3KQ16
, Q0D2Q0, Q6P4C5, Q9BSL7
<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: July 24, 2007
Last sequence update: January 25, 2012
Last modified: November 7, 2018
This is version 104 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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