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Q9NSK7 (CS012_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 76. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein C19orf12
Gene names
Name:C19orf12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length152 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein Ref.6 Ref.10.

Induction

Up-regulated during adipocyte differentiation in an in vitro preadipocyte differentiation model. Ref.6

Involvement in disease

Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6 Ref.7 Ref.8 Ref.9 Ref.10

Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 4 (identifier: Q9NSK7-1)

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.
Isoform 2 (identifier: Q9NSK7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-75: Missing.
Isoform 3 (identifier: Q9NSK7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.
     109-152: HLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD → PCSSSCWPCW
Isoform 1 (identifier: Q9NSK7-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 152152Protein C19orf12
PRO_0000296662

Regions

Transmembrane51 – 7121Helical; Potential

Natural variations

Alternative sequence1 – 7575Missing in isoform 2.
VSP_027227
Alternative sequence1 – 1111Missing in isoform 1 and isoform 3.
VSP_037995
Alternative sequence109 – 15244HLEWT…IQYDD → PCSSSCWPCW in isoform 3.
VSP_027228
Natural variant111T → M in NBIA4. Ref.6
VAR_066617
Natural variant391S → F in NBIA4. Ref.9
VAR_069756
Natural variant481A → P in NBIA4. Ref.9
VAR_069757
Natural variant531G → R in NBIA4. Ref.6 Ref.9
Corresponds to variant rs200133991 [ dbSNP | Ensembl ].
VAR_066618
Natural variant601P → L in NBIA4. Ref.9
VAR_069758
Natural variant631A → P in NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. Ref.10
VAR_070668
Natural variant651G → E in NBIA4. Ref.6 Ref.9
VAR_066619
Natural variant651G → V in NBIA4. Ref.9
VAR_069759
Natural variant661Missing in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. Ref.7 Ref.10
VAR_070669
Natural variant691G → R in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. Ref.6 Ref.9 Ref.10
VAR_066620
Natural variant831P → L in NBIA4. Ref.9
Corresponds to variant rs201987973 [ dbSNP | Ensembl ].
VAR_069760
Natural variant981R → S in NBIA4. Ref.9
VAR_069761
Natural variant1211L → Q in NBIA4. Ref.8
VAR_069762
Natural variant1341A → P in NBIA4; unknown pathological significance. Ref.9
VAR_069763
Natural variant1421K → E Found in families with neurodegeneration with brain iron accumulation; uncertain pathological significance. Ref.6 Ref.9
Corresponds to variant rs146170087 [ dbSNP | Ensembl ].
VAR_066621
Natural variant1421K → T. Ref.6 Ref.9
Corresponds to variant rs79915936 [ dbSNP | Ensembl ].
VAR_066622
Natural variant1491Q → R. Ref.9
Corresponds to variant rs73023451 [ dbSNP | Ensembl ].
VAR_069764

Sequences

Sequence LengthMass (Da)Tools
Isoform 4 [UniParc].

Last modified January 25, 2012. Version 3.
Checksum: F8C1300487F99BD5

FASTA15216,286
        10         20         30         40         50         60 
MERLKSHKPA TMTIMVEDIM KLLCSLSGER KMKAAVKHSG KGALVTGAMA FVGGLVGGPP 

        70         80         90        100        110        120 
GLAVGGAVGG LLGAWMTSGQ FKPVPQILME LPPAEQQRLF NEAAAIIRHL EWTDAVQLTA 

       130        140        150 
LVMGSEALQQ QLLAMLVNYV TKELRAEIQY DD 

« Hide

Isoform 2 [UniParc].

Checksum: F720F9A34E03590C
Show »

FASTA778,756
Isoform 3 [UniParc].

Checksum: 6A96E70C52F2EC6F
Show »

FASTA10711,113
Isoform 1 [UniParc].

Checksum: C6EEA8C17A909E7F
Show »

FASTA14115,007

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-144 (ISOFORM 4).
Tissue: Stomach and Teratocarcinoma.
[2]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 72-152 (ISOFORMS 1/4).
Tissue: Brain, Lymph and Ovary.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 34-141 (ISOFORMS 1/2).
Tissue: Melanoma.
[5]"A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy."
Schottmann G., Stenzel W., Lutzkendorf S., Schuelke M., Knierim E.
Clin. Genet. 85:290-292(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN NBIA4.
[6]"Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation."
Hartig M.B., Iuso A., Haack T., Kmiec T., Jurkiewicz E., Heim K., Roeber S., Tarabin V., Dusi S., Krajewska-Walasek M., Jozwiak S., Hempel M., Winkelmann J., Elstner M., Oexle K., Klopstock T., Mueller-Felber W., Gasser T. expand/collapse author list , Trenkwalder C., Tiranti V., Kretzschmar H., Schmitz G., Strom T.M., Meitinger T., Prokisch H.
Am. J. Hum. Genet. 89:543-550(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NBIA4 MET-11; ARG-53; GLU-65 AND ARG-69, VARIANTS GLU-142 AND THR-142, SUBCELLULAR LOCATION, INDUCTION.
[7]"C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis."
Deschauer M., Gaul C., Behrmann C., Prokisch H., Zierz S., Haack T.B.
J. Neurol. 259:2434-2439(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NBIA4 GLY-66 DEL.
[8]"A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy."
Horvath R., Holinski-Feder E., Neeve V.C., Pyle A., Griffin H., Ashok D., Foley C., Hudson G., Rautenstrauss B., Nurnberg G., Nurnberg P., Kortler J., Neitzel B., Bassmann I., Rahman T., Keavney B., Loughlin J., Hambleton S. expand/collapse author list , Schoser B., Lochmuller H., Santibanez-Koref M., Chinnery P.F.
Mov. Disord. 27:789-793(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NBIA4 GLN-121.
[9]"New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN."
Hogarth P., Gregory A., Kruer M.C., Sanford L., Wagoner W., Natowicz M.R., Egel R.T., Subramony S.H., Goldman J.G., Berry-Kravis E., Foulds N.C., Hammans S.R., Desguerre I., Rodriguez D., Wilson C., Diedrich A., Green S., Tran H. expand/collapse author list , Reese L., Woltjer R.L., Hayflick S.J.
Neurology 80:268-275(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NBIA4 PHE-39; PRO-48; ARG-53; LEU-60; GLU-65; VAL-65; ARG-69; LEU-83; SER-98 AND PRO-134, VARIANTS GLU-142; THR-142 AND ARG-149.
[10]"Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12."
Landoure G., Zhu P.P., Lourenco C.M., Johnson J.O., Toro C., Bricceno K.V., Rinaldi C., Meilleur K.G., Sangare M., Diallo O., Pierson T.M., Ishiura H., Tsuji S., Hein N., Fink J.K., Stoll M., Nicholson G., Gonzalez M.A. expand/collapse author list , Speziani F., Durr A., Stevanin G., Biesecker L.G., Accardi J., Landis D.M., Gahl W.A., Traynor B.J., Marques W. Jr., Zuchner S., Blackstone C., Fischbeck K.H., Burnett B.G.
Hum. Mutat. 34:1357-1360(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SPG43 PRO-63, VARIANTS NBIA4 PRO-63 AND GLY-66 DEL, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SPG43 PRO-63, CHARACTERIZATION OF VARIANTS NBIA4 PRO-63; GLY-66 DEL AND ARG-69.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS12418.2. [Q9NSK7-4]
CCDS42542.1. [Q9NSK7-1]
CCDS59373.1. [Q9NSK7-3]
PIRT47169.
RefSeqNP_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]
UniGeneHs.529094.

3D structure databases

ProteinModelPortalQ9NSK7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123700. 2 interactions.
IntActQ9NSK7. 2 interactions.
STRING9606.ENSP00000376103.

PTM databases

PhosphoSiteQ9NSK7.

Polymorphism databases

DMDM374095505.

Proteomic databases

MaxQBQ9NSK7.
PaxDbQ9NSK7.
PRIDEQ9NSK7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000323670; ENSP00000313332; ENSG00000131943. [Q9NSK7-4]
ENST00000392276; ENSP00000376102; ENSG00000131943. [Q9NSK7-2]
ENST00000392278; ENSP00000376103; ENSG00000131943. [Q9NSK7-1]
ENST00000592153; ENSP00000467117; ENSG00000131943. [Q9NSK7-3]
GeneID83636.
KEGGhsa:83636.
UCSCuc002nsj.3. human. [Q9NSK7-1]
uc002nsm.4. human. [Q9NSK7-3]

Organism-specific databases

CTD83636.
GeneCardsGC19M030189.
GeneReviewsC19orf12.
H-InvDBHIX0014979.
HGNCHGNC:25443. C19orf12.
HPAHPA046930.
MIM614297. gene.
614298. phenotype.
615043. phenotype.
neXtProtNX_Q9NSK7.
Orphanet320370. Autosomal recessive spastic paraplegia type 43.
289560. Neurodegeneration with brain iron accumulation due to C19orf12 mutation.
PharmGKBPA134981038.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG69864.
HOGENOMHOG000007731.
HOVERGENHBG054390.
InParanoidQ9NSK7.
OMAPATMTIM.
OrthoDBEOG779P1P.
PhylomeDBQ9NSK7.
TreeFamTF323308.

Gene expression databases

ArrayExpressQ9NSK7.
BgeeQ9NSK7.
CleanExHS_C19orf12.
GenevestigatorQ9NSK7.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi83636.
NextBio72567.
SOURCESearch...

Entry information

Entry nameCS012_HUMAN
AccessionPrimary (citable) accession number: Q9NSK7
Secondary accession number(s): B3KQ16 expand/collapse secondary AC list , Q0D2Q0, Q6P4C5, Q9BSL7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: January 25, 2012
Last modified: July 9, 2014
This is version 76 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM