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Q5VYM1

- CI131_HUMAN

UniProt

Q5VYM1 - CI131_HUMAN

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Protein
Uncharacterized protein C9orf131
Gene
C9orf131
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

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 C9orf131
PRO_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.

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.

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.
VSP_046225Add
BLAST
Alternative sequencei1 – 5252MEWLL…FVVWQ → MLRK in isoform 2.
VSP_046224Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti218 – 2181S → Y in AAH45643. 1 Publication

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: July 9, 2014
This is version 72 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.

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

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