C19orf12

Functionⁱ

GO - Biological processⁱ

apoptotic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- Ref.13
  "Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+)."
  Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
  Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]
  Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96, SUBCELLULAR LOCATION.
autophagy
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- Ref.13
  "Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+)."
  Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
  Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]
  Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96, SUBCELLULAR LOCATION.
mitochondrial calcium ion homeostasis
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- Ref.13
  "Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+)."
  Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
  Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]
  Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96, SUBCELLULAR LOCATION.
response to oxidative stress
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- Ref.13
  "Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+)."
  Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
  Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]
  Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96, SUBCELLULAR LOCATION.

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Protein C19orf12
Gene namesⁱ	Name:C19orf12
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:25443 C19orf12
MIMⁱ	614297 gene
neXtProtⁱ	NX_Q9NSK7

Topology

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Transmembraneⁱ	51 – 71	HelicalSequence analysisAdd BLAST		21

Keywords - Cellular componentⁱ

Cytoplasm, Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechⁱ

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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_066617	11	T → M in NBIA4. 4 PublicationsCorresponds to variant dbSNP:rs397514477Ensembl.	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:rs200133991Ensembl.	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:rs376103979Ensembl.	1
Natural variantⁱVAR_066619	65	G → E in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs752450983Ensembl.	1
Natural variantⁱVAR_069759	65	G → V in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs752450983Ensembl.	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:rs515726205Ensembl.	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 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.

Related information in OMIM

Feature 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:rs376103979Ensembl.		1

Keywords - Diseaseⁱ

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET More...DisGeNETⁱ	83636
GeneReviewsⁱ	C19orf12
MalaCards human disease database More...MalaCardsⁱ	C19orf12
MIMⁱ	614298 phenotype 615043 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000131943
Orphanetⁱ	320370 Autosomal recessive spastic paraplegia type 43 289560 Mitochondrial membrane protein-associated neurodegeneration
PharmGKBⁱ	PA134981038

Miscellaneous databases

Pharosⁱ	Q9NSK7

Pharosⁱ

Q9NSK7

Polymorphism and mutation 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
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9NSK7
PaxDbⁱ	Q9NSK7
PeptideAtlas More...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

Gene expression databases

Bgeeⁱ	ENSG00000131943 Expressed in 207 organ(s), highest expression level in endothelial cell
ExpressionAtlasⁱ	Q9NSK7 baseline and differential
Genevisibleⁱ	Q9NSK7 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA046930

HPAⁱ

HPA046930

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	123700, 2 interactors
IntActⁱ	Q9NSK7, 2 interactors
STRINGⁱ	9606.ENSP00000376103

Family & Domainsⁱ

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IYJD Eukaryota ENOG410YRIP LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000009077
HOGENOMⁱ	HOG000007731
InParanoidⁱ	Q9NSK7
KEGG Orthology (KO) More...KOⁱ	K23168
OMAⁱ	IMKLLCT
Database of Orthologous Groups More...OrthoDBⁱ	1474873at2759
PhylomeDBⁱ	Q9NSK7
TreeFamⁱ	TF323308

Family and domain databases

InterProⁱ	View protein in InterPro IPR033369 C19orf12
PANTHERⁱ	PTHR31493 PTHR31493, 1 hit

Sequences (4+)ⁱ

Sequence statusⁱ: Complete.

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

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

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

This isoform has been chosen as the 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
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]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MTSGQFKPVP QILMELPPAE QQRLFNEAAA IIRHLEWTDA VQLTALVMGS 
        60         70 
EALQQQLLAM LVNYVTKELR AEIQYDD

Show »

Length:77

Mass (Da):8,756

Checksum:ⁱF720F9A34E03590C

GO

Isoform 3 (identifier: Q9NSK7-3) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MTIMVEDIMK LLCSLSGERK MKAAVKHSGK GALVTGAMAF VGGLVGGPPG 
        60         70         80         90        100
LAVGGAVGGL LGAWMTSGQF KPVPQILMEL PPAEQQRLFN EAAAIIRPCS 

SSCWPCW

Show »

Length:107

Mass (Da):11,113

Checksum:ⁱ6A96E70C52F2EC6F

GO

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

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

« Hide

        10         20         30         40         50
MTIMVEDIMK LLCSLSGERK MKAAVKHSGK GALVTGAMAF VGGLVGGPPG 
        60         70         80         90        100
LAVGGAVGGL LGAWMTSGQF KPVPQILMEL PPAEQQRLFN EAAAIIRHLE 
       110        120        130        140 
WTDAVQLTAL VMGSEALQQQ LLAMLVNYVT KELRAEIQYD D

Show »

Length:141

Mass (Da):15,007

Checksum:ⁱC6EEA8C17A909E7F

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

F8W6J3	F8W6J3_HUMAN	Protein C19orf12 Protein C19orf12	C19orf12	68	Annotation score:
K7EPS8	K7EPS8_HUMAN	Protein C19orf12 Protein C19orf12	C19orf12	106	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_066617	11	T → M in NBIA4. 4 PublicationsCorresponds to variant dbSNP:rs397514477Ensembl.	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:rs200133991Ensembl.	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:rs376103979Ensembl.	1
Natural variantⁱVAR_066619	65	G → E in NBIA4. 2 PublicationsCorresponds to variant dbSNP:rs752450983Ensembl.	1
Natural variantⁱVAR_069759	65	G → V in NBIA4. 1 PublicationCorresponds to variant dbSNP:rs752450983Ensembl.	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:rs515726205Ensembl.	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:rs146170087Ensembl.	1
Natural variantⁱVAR_066622	142	K → T2 PublicationsCorresponds to variant dbSNP:rs79915936Ensembl.	1
Natural variantⁱVAR_069764	149	Q → R1 PublicationCorresponds to variant dbSNP:rs73023451Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS12418.2 [Q9NSK7-4] CCDS42542.1 [Q9NSK7-1] CCDS59373.1 [Q9NSK7-3] CCDS74325.1 [Q9NSK7-2]
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]

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
UCSC genome browser More...UCSCⁱ	uc002nsj.4 human [Q9NSK7-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9NSK7-2	C19orf12 isoform 2		PANTR		141	UniRef100_A0A2J8KSM9
Uncharacterized protein		PANPA		141
C19orf12 isoform 1		PANTR		77
C19orf12 isoform 8 (Fragment)		PANTR		106
UPI0007DB9CA4		PANTR		195
+1
Q9NSK7-4	Protein C19orf12 (Fragment)		HUMAN		106	UniRef100_Q9NSK7-4
UPI000D0C7964		HUMAN		195

Protein	Similar proteins		Species	Score	Length	Source
Q9NSK7	Uncharacterized protein		RHIRO		152	UniRef90_Q9NSK7
Uncharacterized protein		RHIBE		152
C19orf12 isoform 7		PANTR		152
Uncharacterized protein		PANPA		152
C19orf12 isoform 8 (Fragment)		PONAB		152
+18
Q9NSK7-2	Isoform 1 of Protein C19orf12		HUMAN		141	UniRef90_Q9NSK7-4
Uncharacterized protein		MACMU		158
Uncharacterized protein		MANLE		144
Uncharacterized protein		CHLSB		141
Uncharacterized protein		MACFA		141
+9
Q9NSK7-3	Uncharacterized protein		MACMU		110	UniRef90_Q9NSK7-3
Uncharacterized protein		MACFA		110
Chromosome 19 open reading frame 12		GORGO		107
Uncharacterized protein		MACNE		107
C19orf12 isoform 5		PONAB		107
+14

Protein	Similar proteins		Species	Score	Length	Source
Q9NSK7	Protein C19orf12 homolog		BOVIN		141	UniRef50_Q9NSK7
Uncharacterized protein		RHIRO		152
Uncharacterized protein		RHIBE		152
C19orf12 isoform 7		PANTR		152
Uncharacterized protein		PANPA		152
+102
Q9NSK7-3	Uncharacterized protein		MACMU		110	UniRef50_Q9NSK7-3
Uncharacterized protein		MACFA		110
Chromosome 19 open reading frame 12		GORGO		107
Uncharacterized protein		AOTNA		107
Uncharacterized protein		Cebus capucinus imitator		107
+25

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 [Q9NSK7-1] 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

Polymorphism and mutation 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]

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	HPA046930
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IYJD Eukaryota ENOG410YRIP LUCA
GeneTreeⁱ	ENSGT00390000009077
HOGENOMⁱ	HOG000007731
InParanoidⁱ	Q9NSK7
KOⁱ	K23168
OMAⁱ	IMKLLCT
OrthoDBⁱ	1474873at2759
PhylomeDBⁱ	Q9NSK7
TreeFamⁱ	TF323308

Miscellaneous databases

ChiTaRSⁱ	C19orf12 human
GenomeRNAiⁱ	83636
Pharosⁱ	Q9NSK7
Protein Ontology More...PROⁱ	PR:Q9NSK7
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000131943 Expressed in 207 organ(s), highest expression level in endothelial cell
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 , Q0D2Q0, Q6P4C5, Q9BSL7
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 24, 2007
	Last sequence update:	January 25, 2012
	Last modified:	November 13, 2019
	This is version 111 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

Complete proteome, Reference proteome

Documents

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

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UniProtKB - Q9NSK7 (CS012_HUMAN)

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Protein C19orf12

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<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

<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

Organism-specific databases

<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

Cytosol

Mitochondrion

Endoplasmic reticulum

Cytosol

Endoplasmic reticulum

Mitochondrion

Other locations

Topology

<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

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Polymorphism and mutation databases

<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

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

<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

Phylogenomic databases

Family and domain databases

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ