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Protein

Protein C19orf12

Gene

C19orf12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

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

HGNCiHGNC:25443. C19orf12.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei51 – 71HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • cytosol Source: UniProtKB-SubCell
  • endoplasmic reticulum Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
Complete GO annotation...

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 rs397514477dbSNPEnsembl.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 rs200133991dbSNPEnsembl.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 rs376103979dbSNPEnsembl.1
Natural variantiVAR_06661965G → E in NBIA4. 2 PublicationsCorresponds to variant rs752450983dbSNPEnsembl.1
Natural variantiVAR_06975965G → V in NBIA4. 1 PublicationCorresponds to variant rs752450983dbSNPEnsembl.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 rs515726205dbSNPEnsembl.1
Natural variantiVAR_06976083P → L in NBIA4. 2 PublicationsCorresponds to variant rs201987973dbSNPEnsembl.1
Natural variantiVAR_07680496Q → P in NBIA4; no effect on its subcellular localization; no cytosolic redistribution seen in reponse 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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07066863A → P in NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 1 PublicationCorresponds to variant rs376103979dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi83636.
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

InterProiIPR033369. C19orf12.
[Graphical view]
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 rs397514477dbSNPEnsembl.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 rs200133991dbSNPEnsembl.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 rs376103979dbSNPEnsembl.1
Natural variantiVAR_06661965G → E in NBIA4. 2 PublicationsCorresponds to variant rs752450983dbSNPEnsembl.1
Natural variantiVAR_06975965G → V in NBIA4. 1 PublicationCorresponds to variant rs752450983dbSNPEnsembl.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 rs515726205dbSNPEnsembl.1
Natural variantiVAR_06976083P → L in NBIA4. 2 PublicationsCorresponds to variant rs201987973dbSNPEnsembl.1
Natural variantiVAR_07680496Q → P in NBIA4; no effect on its subcellular localization; no cytosolic redistribution seen in reponse 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 rs146170087dbSNPEnsembl.1
Natural variantiVAR_066622142K → T.2 PublicationsCorresponds to variant rs79915936dbSNPEnsembl.1
Natural variantiVAR_069764149Q → R.1 PublicationCorresponds to variant rs73023451dbSNPEnsembl.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

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.

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

CTDi83636.
DisGeNETi83636.
GeneCardsiC19orf12.
GeneReviewsiC19orf12.
H-InvDBHIX0014979.
HGNCiHGNC:25443. C19orf12.
HPAiHPA046930.
MalaCardsiC19orf12.
MIMi614297. gene.
614298. phenotype.
615043. phenotype.
neXtProtiNX_Q9NSK7.
OpenTargetsiENSG00000131943.
Orphaneti320370. Autosomal recessive spastic paraplegia type 43.
289560. Neurodegeneration with brain iron accumulation due to C19orf12 mutation.
PharmGKBiPA134981038.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii83636.
PROiQ9NSK7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131943.
CleanExiHS_C19orf12.
ExpressionAtlasiQ9NSK7. baseline and differential.
GenevisibleiQ9NSK7. HS.

Family and domain databases

InterProiIPR033369. C19orf12.
[Graphical view]
PANTHERiPTHR31493. PTHR31493. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCS012_HUMAN
AccessioniPrimary (citable) accession number: Q9NSK7
Secondary accession number(s): B3KQ16
, Q0D2Q0, Q6P4C5, Q9BSL7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: January 25, 2012
Last modified: November 30, 2016
This is version 97 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome 19
    Human chromosome 19: 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.