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Protein

Protein C19orf12

Gene

C19orf12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Biological processi

  • apoptotic process Source: UniProtKB
  • autophagy Source: UniProtKB
  • mitochondrial calcium ion homeostasis Source: UniProtKB
  • response to oxidative stress Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Protein C19orf12
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000131943.17
HGNCiHGNC:25443 C19orf12
MIMi614297 gene
neXtProtiNX_Q9NSK7

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
Transmembranei51 – 71HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Neurodegeneration with brain iron accumulation 4 (NBIA4)9 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
Natural variantiVAR_06661711T → M in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs397514477EnsemblClinVar.1
Natural variantiVAR_06975639S → F in NBIA4. 1 Publication1
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. 3 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 Publication1
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

DisGeNETi83636
GeneReviewsiC19orf12
MalaCardsiC19orf12
MIMi614298 phenotype
615043 phenotype
OpenTargetsiENSG00000131943
Orphaneti320370 Autosomal recessive spastic paraplegia type 43
289560 Neurodegeneration with brain iron accumulation due to C19orf12 mutation
PharmGKBiPA134981038

Polymorphism and mutation databases

BioMutaiC19orf12
DMDMi374095505

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002966621 – 152Protein C19orf12Add BLAST152

Proteomic databases

MaxQBiQ9NSK7
PaxDbiQ9NSK7
PeptideAtlasiQ9NSK7
PRIDEiQ9NSK7

PTM databases

iPTMnetiQ9NSK7
PhosphoSitePlusiQ9NSK7

Expressioni

Inductioni

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

Gene expression databases

BgeeiENSG00000131943
CleanExiHS_C19orf12
ExpressionAtlasiQ9NSK7 baseline and differential
GenevisibleiQ9NSK7 HS

Organism-specific databases

HPAiHPA046930

Interactioni

Protein-protein interaction databases

BioGridi123700, 2 interactors
IntActiQ9NSK7, 2 interactors
STRINGi9606.ENSP00000376103

Structurei

3D structure databases

ProteinModelPortaliQ9NSK7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR033369 C19orf12
PANTHERiPTHR31493 PTHR31493, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06661711T → M in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs397514477EnsemblClinVar.1
Natural variantiVAR_06975639S → F in NBIA4. 1 Publication1
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. 3 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 Publication1
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
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCS012_HUMAN
AccessioniPrimary (citable) accession number: Q9NSK7
Secondary accession number(s): B3KQ16
, Q0D2Q0, Q6P4C5, Q9BSL7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: January 25, 2012
Last modified: September 27, 2017
This is version 100 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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