UniProtKB - Q9NSK7 (CS012_HUMAN)
Protein
Protein C19orf12
Gene
C19orf12
Organism
Homo sapiens (Human)
Status
Functioni
GO - Biological processi
- apoptotic process Source: UniProtKB
- autophagy Source: UniProtKB
- mitochondrial calcium ion homeostasis Source: UniProtKB
- response to oxidative stress Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9NSK7 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein C19orf12 |
Gene namesi | Name:C19orf12 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25443, C19orf12 |
MIMi | 614297, gene |
neXtProti | NX_Q9NSK7 |
VEuPathDBi | HostDB:ENSG00000131943.17 |
Subcellular locationi
Cytoplasm and Cytosol
- cytosol 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum 1 Publication
Mitochondrion
- Mitochondrion 3 Publications
- Mitochondrion membrane 2 Publications; Single-pass membrane protein Sequence analysis
Note: In response to oxidative stress, relocates to the cytosol forming aggregates that partially co-localize with mitochondria.1 Publication
Cytosol
- cytosol Source: HPA
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Mitochondrion
- mitochondrial membrane Source: UniProtKB
- mitochondrion Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 51 – 71 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cytoplasm, Endoplasmic reticulum, Membrane, MitochondrionPathology & Biotechi
Involvement in diseasei
Neurodegeneration with brain iron accumulation 4 (NBIA4)11 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066617 | 11 | T → M in NBIA4. 4 PublicationsCorresponds to variant dbSNP:rs397514477EnsemblClinVar. | 1 | |
Natural variantiVAR_069756 | 39 | S → F in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs1204865094Ensembl. | 1 | |
Natural variantiVAR_069757 | 48 | A → P in NBIA4. 1 Publication | 1 | |
Natural variantiVAR_066618 | 53 | G → R in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs200133991EnsemblClinVar. | 1 | |
Natural variantiVAR_076803 | 58 | G → 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 PublicationsCorresponds to variant dbSNP:rs1358503478Ensembl. | 1 | |
Natural variantiVAR_069758 | 60 | P → L in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs1424999393Ensembl. | 1 | |
Natural variantiVAR_070668 | 63 | A → P in NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs376103979EnsemblClinVar. | 1 | |
Natural variantiVAR_066619 | 65 | G → E in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs752450983EnsemblClinVar. | 1 | |
Natural variantiVAR_069759 | 65 | G → V in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs752450983EnsemblClinVar. | 1 | |
Natural variantiVAR_070669 | 66 | Missing in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 2 Publications | 1 | |
Natural variantiVAR_066620 | 69 | G → R in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 4 PublicationsCorresponds to variant dbSNP:rs515726205EnsemblClinVar. | 1 | |
Natural variantiVAR_069760 | 83 | P → L in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs201987973Ensembl. | 1 | |
Natural variantiVAR_076804 | 96 | Q → P in NBIA4; no effect on its subcellular localization; no cytosolic redistribution seen in response to oxidative stress. 2 Publications | 1 | |
Natural variantiVAR_069761 | 98 | R → S in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs1384930997Ensembl. | 1 | |
Natural variantiVAR_069762 | 121 | L → Q in NBIA4. 1 Publication | 1 | |
Natural variantiVAR_069763 | 134 | A → P in NBIA4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1264612218Ensembl. | 1 |
Spastic paraplegia 43, autosomal recessive (SPG43)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070668 | 63 | A → P in NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs376103979EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Hereditary spastic paraplegia, NeurodegenerationOrganism-specific databases
DisGeNETi | 83636 |
GeneReviewsi | C19orf12 |
MalaCardsi | C19orf12 |
MIMi | 614298, phenotype 615043, phenotype |
OpenTargetsi | ENSG00000131943 |
Orphaneti | 320370, Autosomal recessive spastic paraplegia type 43 289560, Mitochondrial membrane protein-associated neurodegeneration |
PharmGKBi | PA134981038 |
Miscellaneous databases
Pharosi | Q9NSK7, Tbio |
Genetic variation databases
BioMutai | C19orf12 |
DMDMi | 374095505 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000296662 | 1 – 152 | Protein C19orf12Add BLAST | 152 |
Proteomic databases
jPOSTi | Q9NSK7 |
MassIVEi | Q9NSK7 |
MaxQBi | Q9NSK7 |
PaxDbi | Q9NSK7 |
PeptideAtlasi | Q9NSK7 |
PRIDEi | Q9NSK7 |
ProteomicsDBi | 82566 [Q9NSK7-1] 82567 [Q9NSK7-2] 82568 [Q9NSK7-3] 82569 [Q9NSK7-4] |
PTM databases
iPTMneti | Q9NSK7 |
PhosphoSitePlusi | Q9NSK7 |
Expressioni
Inductioni
Up-regulated during adipocyte differentiation in an in vitro preadipocyte differentiation model.1 Publication
Gene expression databases
Bgeei | ENSG00000131943, Expressed in endothelial cell and 220 other tissues |
ExpressionAtlasi | Q9NSK7, baseline and differential |
Genevisiblei | Q9NSK7, HS |
Organism-specific databases
HPAi | ENSG00000131943, Tissue enhanced (adipose) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 123700, 2 interactors |
IntActi | Q9NSK7, 2 interactors |
STRINGi | 9606.ENSP00000376103 |
Miscellaneous databases
RNActi | Q9NSK7, protein |
Family & Domainsi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502RZQC, Eukaryota |
GeneTreei | ENSGT00390000009077 |
HOGENOMi | CLU_2460310_0_0_1 |
InParanoidi | Q9NSK7 |
OMAi | CCEISAH |
OrthoDBi | 1474873at2759 |
PhylomeDBi | Q9NSK7 |
TreeFami | TF323308 |
Family and domain databases
InterProi | View protein in InterPro IPR033369, C19orf12 |
PANTHERi | PTHR31493, PTHR31493, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8W6J3 | F8W6J3_HUMAN | Protein C19orf12 | C19orf12 | 68 | Annotation score: | ||
K7EPS8 | K7EPS8_HUMAN | Protein C19orf12 | C19orf12 | 106 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066617 | 11 | T → M in NBIA4. 4 PublicationsCorresponds to variant dbSNP:rs397514477EnsemblClinVar. | 1 | |
Natural variantiVAR_069756 | 39 | S → F in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs1204865094Ensembl. | 1 | |
Natural variantiVAR_069757 | 48 | A → P in NBIA4. 1 Publication | 1 | |
Natural variantiVAR_066618 | 53 | G → R in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs200133991EnsemblClinVar. | 1 | |
Natural variantiVAR_076803 | 58 | G → 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 PublicationsCorresponds to variant dbSNP:rs1358503478Ensembl. | 1 | |
Natural variantiVAR_069758 | 60 | P → L in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs1424999393Ensembl. | 1 | |
Natural variantiVAR_070668 | 63 | A → P in NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs376103979EnsemblClinVar. | 1 | |
Natural variantiVAR_066619 | 65 | G → E in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs752450983EnsemblClinVar. | 1 | |
Natural variantiVAR_069759 | 65 | G → V in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs752450983EnsemblClinVar. | 1 | |
Natural variantiVAR_070669 | 66 | Missing in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 2 Publications | 1 | |
Natural variantiVAR_066620 | 69 | G → R in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 4 PublicationsCorresponds to variant dbSNP:rs515726205EnsemblClinVar. | 1 | |
Natural variantiVAR_069760 | 83 | P → L in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs201987973Ensembl. | 1 | |
Natural variantiVAR_076804 | 96 | Q → P in NBIA4; no effect on its subcellular localization; no cytosolic redistribution seen in response to oxidative stress. 2 Publications | 1 | |
Natural variantiVAR_069761 | 98 | R → S in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs1384930997Ensembl. | 1 | |
Natural variantiVAR_069762 | 121 | L → Q in NBIA4. 1 Publication | 1 | |
Natural variantiVAR_069763 | 134 | A → P in NBIA4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1264612218Ensembl. | 1 | |
Natural variantiVAR_066621 | 142 | K → E Found in families with neurodegeneration with brain iron accumulation; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs146170087EnsemblClinVar. | 1 | |
Natural variantiVAR_066622 | 142 | K → T2 PublicationsCorresponds to variant dbSNP:rs79915936EnsemblClinVar. | 1 | |
Natural variantiVAR_069764 | 149 | Q → R1 PublicationCorresponds to variant dbSNP:rs73023451EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_027227 | 1 – 75 | Missing in isoform 2. 1 PublicationAdd BLAST | 75 | |
Alternative sequenceiVSP_037995 | 1 – 11 | Missing in isoform 1 and isoform 3. 2 PublicationsAdd BLAST | 11 | |
Alternative sequenceiVSP_027228 | 109 – 152 | HLEWT…IQYDD → PCSSSCWPCW in isoform 3. 1 PublicationAdd BLAST | 44 |
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 |
CCDSi | CCDS12418.2 [Q9NSK7-4] CCDS42542.1 [Q9NSK7-4] CCDS59373.1 [Q9NSK7-3] CCDS74325.1 [Q9NSK7-2] |
PIRi | T47169 |
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] |
Genome annotation databases
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] |
GeneIDi | 83636 |
KEGGi | hsa:83636 |
UCSCi | uc002nsj.4, human [Q9NSK7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS12418.2 [Q9NSK7-4] CCDS42542.1 [Q9NSK7-4] CCDS59373.1 [Q9NSK7-3] CCDS74325.1 [Q9NSK7-2] |
PIRi | T47169 |
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] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123700, 2 interactors |
IntActi | Q9NSK7, 2 interactors |
STRINGi | 9606.ENSP00000376103 |
PTM databases
iPTMneti | Q9NSK7 |
PhosphoSitePlusi | Q9NSK7 |
Genetic variation databases
BioMutai | C19orf12 |
DMDMi | 374095505 |
Proteomic databases
jPOSTi | Q9NSK7 |
MassIVEi | Q9NSK7 |
MaxQBi | Q9NSK7 |
PaxDbi | Q9NSK7 |
PeptideAtlasi | Q9NSK7 |
PRIDEi | Q9NSK7 |
ProteomicsDBi | 82566 [Q9NSK7-1] 82567 [Q9NSK7-2] 82568 [Q9NSK7-3] 82569 [Q9NSK7-4] |
Protocols and materials databases
Antibodypediai | 47936, 35 antibodies |
Genome annotation databases
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] |
GeneIDi | 83636 |
KEGGi | hsa:83636 |
UCSCi | uc002nsj.4, human [Q9NSK7-1] |
Organism-specific databases
CTDi | 83636 |
DisGeNETi | 83636 |
GeneCardsi | C19orf12 |
GeneReviewsi | C19orf12 |
HGNCi | HGNC:25443, C19orf12 |
HPAi | ENSG00000131943, Tissue enhanced (adipose) |
MalaCardsi | C19orf12 |
MIMi | 614297, gene 614298, phenotype 615043, phenotype |
neXtProti | NX_Q9NSK7 |
OpenTargetsi | ENSG00000131943 |
Orphaneti | 320370, Autosomal recessive spastic paraplegia type 43 289560, Mitochondrial membrane protein-associated neurodegeneration |
PharmGKBi | PA134981038 |
VEuPathDBi | HostDB:ENSG00000131943.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RZQC, Eukaryota |
GeneTreei | ENSGT00390000009077 |
HOGENOMi | CLU_2460310_0_0_1 |
InParanoidi | Q9NSK7 |
OMAi | CCEISAH |
OrthoDBi | 1474873at2759 |
PhylomeDBi | Q9NSK7 |
TreeFami | TF323308 |
Enzyme and pathway databases
PathwayCommonsi | Q9NSK7 |
Miscellaneous databases
BioGRID-ORCSi | 83636, 17 hits in 995 CRISPR screens |
ChiTaRSi | C19orf12, human |
GenomeRNAii | 83636 |
Pharosi | Q9NSK7, Tbio |
PROi | PR:Q9NSK7 |
RNActi | Q9NSK7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131943, Expressed in endothelial cell and 220 other tissues |
ExpressionAtlasi | Q9NSK7, baseline and differential |
Genevisiblei | Q9NSK7, HS |
Family and domain databases
InterProi | View protein in InterPro IPR033369, C19orf12 |
PANTHERi | PTHR31493, PTHR31493, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CS012_HUMAN | |
Accessioni | Q9NSK7Primary (citable) accession number: Q9NSK7 Secondary accession number(s): B3KQ16 Q9BSL7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 24, 2007 |
Last sequence update: | January 25, 2012 | |
Last modified: | April 7, 2021 | |
This is version 119 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot