Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q5VYM1

- CI131_HUMAN

UniProt

Q5VYM1 - CI131_HUMAN

Protein

Uncharacterized protein C9orf131

Gene

C9orf131

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 73 (01 Oct 2014)
      Sequence version 3 (04 Nov 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Uncharacterized protein C9orf131
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:31418. C9orf131.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA145149697.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10791079Uncharacterized protein C9orf131PRO_0000294443Add
    BLAST

    Proteomic databases

    PaxDbiQ5VYM1.
    PRIDEiQ5VYM1.

    PTM databases

    PhosphoSiteiQ5VYM1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ5VYM1.
    BgeeiQ5VYM1.
    CleanExiHS_C9orf131.
    GenevestigatoriQ5VYM1.

    Organism-specific databases

    HPAiHPA022029.

    Interactioni

    Protein-protein interaction databases

    IntActiQ5VYM1. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5VYM1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG40075.
    HOGENOMiHOG000111660.
    HOVERGENiHBG099349.
    InParanoidiQ5VYM1.
    OMAiRHCGSSC.
    OrthoDBiEOG7PP565.
    PhylomeDBiQ5VYM1.
    TreeFamiTF337467.

    Family and domain databases

    InterProiIPR026677. UPF_C9orf131.
    [Graphical view]
    PANTHERiPTHR21777. PTHR21777. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5VYM1-1) [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

    MEWLLEDLLG AKGDMGLLWG QLTHALACRH CGSSCFQSPG NLVTLFLFVV     50
    WQIQRWWQLG RLRQLHPWCS GNMVQGKELP LLHRVAFLDH LCKQKSEVEE 100
    EGEEEEEGED EASLDPLKPC SPTKEAPTGE QATPAPPQPS CGSEGLLKAI 150
    GIPEQTVMQP VSPSRSFPIF QILTSFPVRH KIASGNRQQQ RKSQLFWGLP 200
    SLHSESLEAI FLSSGGPSPL KWSVCSSVFF NKLAFLPRSN LLLPQYHSSA 250
    QFSTHGAHTM EDLEGMAPDP QLLPPPSSPS VSSLLLHLRP FPVDHKGVLS 300
    GAEAPTQSPG TSPLEVLPGY ETHLETTGHK KMPQAFEPPM PPPCQSPASL 350
    SEPRKVSPEG GLAISKDFWG TVGYREKPQA SESSMPVPCP PLDSLPELQR 400
    ESSLEDPSRY KPQWECRENS GNLWAFESPV LDLNPELSGT SPECVPPASE 450
    TPWKGMQSRE NIWVPADPVS PPSLPSVPLL ESLVMGPQGV LSESKALWET 500
    MGQKENLWAS DSPDPVHSTP PTTLMEPHRI NPGECLATSE ATWKDTEHSR 550
    NSSASRSPSL ALSPPPALAP ELLRVRSMGV LSDSEARCGD IQKTKNSWAS 600
    KHPACNLPQD LHGASPLGVL SDSQSIVGEM EQKENCVPVF PGRGSSPSSN 650
    SVSKSHVSEP IADQSNYKPD GEAVEQRKNH WATELPAPSS LSTPLPEPHI 700
    DLELVWRNVQ QREVPQGPSP LAVDPLHPVP QPPTLAEAVK IERTHPGLPK 750
    GVTCPGVKAE APLSQRWTVP ELLTHPGIHA WQWSRELKLR LKKLRQSPAS 800
    RAPGPSQSFC SSPILSSTIP DFWGLPSCPP QQIYPPNPCP HSSSCHPQEV 850
    QRTVPQPVQS SHCHHFQSSS QLQPQESGRA EQGSQRGEKM KGKMVSQVPS 900
    QGPCVHMEAG VDYLSPGPGE PSNSKVLVSG KRKDKASASS SAKKREHPRK 950
    PKAGDHRRGT ARLGLSTVTG KNHPAQARSL VEAPVSTFPQ RSQHRGQSSQ 1000
    HTALPQLLLP KASGPQDQPE AGRRASDILT PRHCKHCPWA HMEKYLSFPT 1050
    LKASLTRGLQ KVLAKCLDNH RPLPTKSSQ 1079
    Length:1,079
    Mass (Da):117,724
    Last modified:November 4, 2008 - v3
    Checksum:i8BC7A94F771E468E
    GO
    Isoform 2 (identifier: Q5VYM1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-52: MEWLLEDLLGAKGDMGLLWGQLTHALACRHCGSSCFQSPGNLVTLFLFVVWQ → MLRK

    Show »
    Length:1,031
    Mass (Da):112,477
    Checksum:iE5C93BEAF39F5623
    GO
    Isoform 3 (identifier: Q5VYM1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-76: MEWLLEDLLG...PWCSGNMVQG → MLR

    Show »
    Length:1,006
    Mass (Da):109,417
    Checksum:i5434D6658011A009
    GO

    Sequence cautioni

    The sequence AAH45643.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti218 – 2181S → Y in AAH45643. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti222 – 2221W → L.1 Publication
    Corresponds to variant rs615474 [ dbSNP | Ensembl ].
    VAR_047239
    Natural varianti285 – 2851L → F.
    Corresponds to variant rs10117097 [ dbSNP | Ensembl ].
    VAR_047240
    Natural varianti437 – 4371L → V.
    Corresponds to variant rs35523761 [ dbSNP | Ensembl ].
    VAR_047241
    Natural varianti623 – 6231S → T.
    Corresponds to variant rs2298312 [ dbSNP | Ensembl ].
    VAR_047242
    Natural varianti916 – 9161P → S.
    Corresponds to variant rs3739871 [ dbSNP | Ensembl ].
    VAR_047243

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7676MEWLL…NMVQG → MLR in isoform 3. CuratedVSP_046225Add
    BLAST
    Alternative sequencei1 – 5252MEWLL…FVVWQ → MLRK in isoform 2. CuratedVSP_046224Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL353795 Genomic DNA. Translation: CAH70992.1.
    BC045643 mRNA. Translation: AAH45643.1. Different initiation.
    AL133575 mRNA. Translation: CAB63722.1.
    CCDSiCCDS47961.1. [Q5VYM1-2]
    CCDS47962.1. [Q5VYM1-3]
    CCDS6572.2. [Q5VYM1-1]
    PIRiT43478.
    RefSeqiNP_001035500.1. NM_001040410.2.
    NP_001035501.1. NM_001040411.2. [Q5VYM1-3]
    NP_001035502.1. NM_001040412.2. [Q5VYM1-2]
    NP_001274320.1. NM_001287391.1.
    NP_976044.2. NM_203299.3. [Q5VYM1-1]
    UniGeneiHs.148250.
    Hs.742567.

    Genome annotation databases

    EnsembliENST00000312292; ENSP00000308279; ENSG00000174038. [Q5VYM1-1]
    ENST00000354479; ENSP00000346472; ENSG00000174038. [Q5VYM1-3]
    ENST00000421362; ENSP00000393683; ENSG00000174038. [Q5VYM1-2]
    GeneIDi138724.
    KEGGihsa:138724.
    UCSCiuc003zvw.3. human. [Q5VYM1-1]

    Polymorphism databases

    DMDMi212276515.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL353795 Genomic DNA. Translation: CAH70992.1 .
    BC045643 mRNA. Translation: AAH45643.1 . Different initiation.
    AL133575 mRNA. Translation: CAB63722.1 .
    CCDSi CCDS47961.1. [Q5VYM1-2 ]
    CCDS47962.1. [Q5VYM1-3 ]
    CCDS6572.2. [Q5VYM1-1 ]
    PIRi T43478.
    RefSeqi NP_001035500.1. NM_001040410.2.
    NP_001035501.1. NM_001040411.2. [Q5VYM1-3 ]
    NP_001035502.1. NM_001040412.2. [Q5VYM1-2 ]
    NP_001274320.1. NM_001287391.1.
    NP_976044.2. NM_203299.3. [Q5VYM1-1 ]
    UniGenei Hs.148250.
    Hs.742567.

    3D structure databases

    ProteinModelPortali Q5VYM1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q5VYM1. 2 interactions.

    PTM databases

    PhosphoSitei Q5VYM1.

    Polymorphism databases

    DMDMi 212276515.

    Proteomic databases

    PaxDbi Q5VYM1.
    PRIDEi Q5VYM1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312292 ; ENSP00000308279 ; ENSG00000174038 . [Q5VYM1-1 ]
    ENST00000354479 ; ENSP00000346472 ; ENSG00000174038 . [Q5VYM1-3 ]
    ENST00000421362 ; ENSP00000393683 ; ENSG00000174038 . [Q5VYM1-2 ]
    GeneIDi 138724.
    KEGGi hsa:138724.
    UCSCi uc003zvw.3. human. [Q5VYM1-1 ]

    Organism-specific databases

    CTDi 138724.
    GeneCardsi GC09P035024.
    H-InvDB HIX0114895.
    HIX0201378.
    HGNCi HGNC:31418. C9orf131.
    HPAi HPA022029.
    neXtProti NX_Q5VYM1.
    PharmGKBi PA145149697.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40075.
    HOGENOMi HOG000111660.
    HOVERGENi HBG099349.
    InParanoidi Q5VYM1.
    OMAi RHCGSSC.
    OrthoDBi EOG7PP565.
    PhylomeDBi Q5VYM1.
    TreeFami TF337467.

    Miscellaneous databases

    GenomeRNAii 138724.
    NextBioi 83825.

    Gene expression databases

    ArrayExpressi Q5VYM1.
    Bgeei Q5VYM1.
    CleanExi HS_C9orf131.
    Genevestigatori Q5VYM1.

    Family and domain databases

    InterProi IPR026677. UPF_C9orf131.
    [Graphical view ]
    PANTHERi PTHR21777. PTHR21777. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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] (ISOFORM 1), VARIANT LEU-222.
      Tissue: Testis.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 929-1079 (ISOFORM 1).
      Tissue: Testis.

    Entry informationi

    Entry nameiCI131_HUMAN
    AccessioniPrimary (citable) accession number: Q5VYM1
    Secondary accession number(s): A6NLE6
    , E9PB26, Q86XC6, Q9UF74
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 10, 2007
    Last sequence update: November 4, 2008
    Last modified: October 1, 2014
    This is version 73 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

    Caution

    It is uncertain whether Met-1 or Met-15 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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

    External Data

    Dasty 3