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Q9NSK7

- CS012_HUMAN

UniProt

Q9NSK7 - CS012_HUMAN

Protein

Protein C19orf12

Gene

C19orf12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    GO - Biological processi

    1. cell death Source: UniProtKB-KW

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein C19orf12
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:25443. C19orf12.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW
    4. mitochondrial membrane Source: UniProtKB-SubCell
    5. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti11 – 111T → M in NBIA4. 1 Publication
    VAR_066617
    Natural varianti39 – 391S → F in NBIA4. 1 Publication
    VAR_069756
    Natural varianti48 – 481A → P in NBIA4. 1 Publication
    VAR_069757
    Natural varianti53 – 531G → R in NBIA4. 2 Publications
    Corresponds to variant rs200133991 [ dbSNP | Ensembl ].
    VAR_066618
    Natural varianti60 – 601P → L in NBIA4. 1 Publication
    VAR_069758
    Natural varianti63 – 631A → P in NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 1 Publication
    VAR_070668
    Natural varianti65 – 651G → E in NBIA4. 2 Publications
    VAR_066619
    Natural varianti65 – 651G → V in NBIA4. 1 Publication
    VAR_069759
    Natural varianti66 – 661Missing in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 2 Publications
    VAR_070669
    Natural varianti69 – 691G → R in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 2 Publications
    VAR_066620
    Natural varianti83 – 831P → L in NBIA4. 1 Publication
    Corresponds to variant rs201987973 [ dbSNP | Ensembl ].
    VAR_069760
    Natural varianti98 – 981R → S in NBIA4. 1 Publication
    VAR_069761
    Natural varianti121 – 1211L → Q in NBIA4. 1 Publication
    VAR_069762
    Natural varianti134 – 1341A → P in NBIA4; unknown pathological significance. 1 Publication
    VAR_069763
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti63 – 631A → P in NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 1 Publication
    VAR_070668

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 152152Protein C19orf12PRO_0000296662Add
    BLAST

    Proteomic databases

    MaxQBiQ9NSK7.
    PaxDbiQ9NSK7.
    PRIDEiQ9NSK7.

    PTM databases

    PhosphoSiteiQ9NSK7.

    Expressioni

    Inductioni

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

    Gene expression databases

    ArrayExpressiQ9NSK7.
    BgeeiQ9NSK7.
    CleanExiHS_C19orf12.
    GenevestigatoriQ9NSK7.

    Organism-specific databases

    HPAiHPA046930.

    Interactioni

    Protein-protein interaction databases

    BioGridi123700. 2 interactions.
    IntActiQ9NSK7. 2 interactions.
    STRINGi9606.ENSP00000376103.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NSK7.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei51 – 7121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG69864.
    HOGENOMiHOG000007731.
    HOVERGENiHBG054390.
    InParanoidiQ9NSK7.
    OMAiPATMTIM.
    OrthoDBiEOG779P1P.
    PhylomeDBiQ9NSK7.
    TreeFamiTF323308.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    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

    MERLKSHKPA TMTIMVEDIM KLLCSLSGER KMKAAVKHSG KGALVTGAMA    50
    FVGGLVGGPP GLAVGGAVGG LLGAWMTSGQ FKPVPQILME LPPAEQQRLF 100
    NEAAAIIRHL EWTDAVQLTA LVMGSEALQQ QLLAMLVNYV TKELRAEIQY 150
    DD 152
    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti11 – 111T → M in NBIA4. 1 Publication
    VAR_066617
    Natural varianti39 – 391S → F in NBIA4. 1 Publication
    VAR_069756
    Natural varianti48 – 481A → P in NBIA4. 1 Publication
    VAR_069757
    Natural varianti53 – 531G → R in NBIA4. 2 Publications
    Corresponds to variant rs200133991 [ dbSNP | Ensembl ].
    VAR_066618
    Natural varianti60 – 601P → L in NBIA4. 1 Publication
    VAR_069758
    Natural varianti63 – 631A → P in NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 1 Publication
    VAR_070668
    Natural varianti65 – 651G → E in NBIA4. 2 Publications
    VAR_066619
    Natural varianti65 – 651G → V in NBIA4. 1 Publication
    VAR_069759
    Natural varianti66 – 661Missing in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 2 Publications
    VAR_070669
    Natural varianti69 – 691G → R in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 2 Publications
    VAR_066620
    Natural varianti83 – 831P → L in NBIA4. 1 Publication
    Corresponds to variant rs201987973 [ dbSNP | Ensembl ].
    VAR_069760
    Natural varianti98 – 981R → S in NBIA4. 1 Publication
    VAR_069761
    Natural varianti121 – 1211L → Q in NBIA4. 1 Publication
    VAR_069762
    Natural varianti134 – 1341A → P in NBIA4; unknown pathological significance. 1 Publication
    VAR_069763
    Natural varianti142 – 1421K → E Found in families with neurodegeneration with brain iron accumulation; uncertain pathological significance. 2 Publications
    Corresponds to variant rs146170087 [ dbSNP | Ensembl ].
    VAR_066621
    Natural varianti142 – 1421K → T.2 Publications
    Corresponds to variant rs79915936 [ dbSNP | Ensembl ].
    VAR_066622
    Natural varianti149 – 1491Q → R.1 Publication
    Corresponds to variant rs73023451 [ dbSNP | Ensembl ].
    VAR_069764

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7575Missing in isoform 2. 1 PublicationVSP_027227Add
    BLAST
    Alternative sequencei1 – 1111Missing in isoform 1 and isoform 3. 2 PublicationsVSP_037995Add
    BLAST
    Alternative sequencei109 – 15244HLEWT…IQYDD → PCSSSCWPCW in isoform 3. 1 PublicationVSP_027228Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    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]
    GeneIDi83636.
    KEGGihsa:83636.
    UCSCiuc002nsj.3. human. [Q9NSK7-1]
    uc002nsm.4. human. [Q9NSK7-3]

    Polymorphism databases

    DMDMi374095505.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 ]
    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 ]
    UniGenei Hs.529094.

    3D structure databases

    ProteinModelPortali Q9NSK7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123700. 2 interactions.
    IntActi Q9NSK7. 2 interactions.
    STRINGi 9606.ENSP00000376103.

    PTM databases

    PhosphoSitei Q9NSK7.

    Polymorphism databases

    DMDMi 374095505.

    Proteomic databases

    MaxQBi Q9NSK7.
    PaxDbi Q9NSK7.
    PRIDEi Q9NSK7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000323670 ; ENSP00000313332 ; ENSG00000131943 . [Q9NSK7-4 ]
    ENST00000392276 ; ENSP00000376102 ; ENSG00000131943 . [Q9NSK7-2 ]
    ENST00000392278 ; ENSP00000376103 ; ENSG00000131943 . [Q9NSK7-1 ]
    ENST00000592153 ; ENSP00000467117 ; ENSG00000131943 . [Q9NSK7-3 ]
    GeneIDi 83636.
    KEGGi hsa:83636.
    UCSCi uc002nsj.3. human. [Q9NSK7-1 ]
    uc002nsm.4. human. [Q9NSK7-3 ]

    Organism-specific databases

    CTDi 83636.
    GeneCardsi GC19M030189.
    GeneReviewsi C19orf12.
    H-InvDB HIX0014979.
    HGNCi HGNC:25443. C19orf12.
    HPAi HPA046930.
    MIMi 614297. gene.
    614298. phenotype.
    615043. phenotype.
    neXtProti NX_Q9NSK7.
    Orphaneti 320370. Autosomal recessive spastic paraplegia type 43.
    289560. Neurodegeneration with brain iron accumulation due to C19orf12 mutation.
    PharmGKBi PA134981038.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG69864.
    HOGENOMi HOG000007731.
    HOVERGENi HBG054390.
    InParanoidi Q9NSK7.
    OMAi PATMTIM.
    OrthoDBi EOG779P1P.
    PhylomeDBi Q9NSK7.
    TreeFami TF323308.

    Miscellaneous databases

    GenomeRNAii 83636.
    NextBioi 72567.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NSK7.
    Bgeei Q9NSK7.
    CleanExi HS_C19orf12.
    Genevestigatori Q9NSK7.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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. 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. Cited for: VARIANT NBIA4 GLN-121.
    9. 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. 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.

    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: October 1, 2014
    This is version 77 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

    External Data

    Dasty 3