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Q5VYM1 (CI131_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 72. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | 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:
Uncharacterized protein C9orf131
Gene names
Name:C9orf131
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1079 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Caution

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

Sequence caution

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

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5VYM1-1)

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: Q5VYM1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: MEWLLEDLLGAKGDMGLLWGQLTHALACRHCGSSCFQSPGNLVTLFLFVVWQ → MLRK
Isoform 3 (identifier: Q5VYM1-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10791079Uncharacterized protein C9orf131
PRO_0000294443

Natural variations

Alternative sequence1 – 7676MEWLL…NMVQG → MLR in isoform 3.
VSP_046225
Alternative sequence1 – 5252MEWLL…FVVWQ → MLRK in isoform 2.
VSP_046224
Natural variant2221W → L. Ref.2
Corresponds to variant rs615474 [ dbSNP | Ensembl ].
VAR_047239
Natural variant2851L → F.
Corresponds to variant rs10117097 [ dbSNP | Ensembl ].
VAR_047240
Natural variant4371L → V.
Corresponds to variant rs35523761 [ dbSNP | Ensembl ].
VAR_047241
Natural variant6231S → T.
Corresponds to variant rs2298312 [ dbSNP | Ensembl ].
VAR_047242
Natural variant9161P → S.
Corresponds to variant rs3739871 [ dbSNP | Ensembl ].
VAR_047243

Experimental info

Sequence conflict2181S → Y in AAH45643. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 4, 2008. Version 3.
Checksum: 8BC7A94F771E468E

FASTA1,079117,724
        10         20         30         40         50         60 
MEWLLEDLLG AKGDMGLLWG QLTHALACRH CGSSCFQSPG NLVTLFLFVV WQIQRWWQLG 

        70         80         90        100        110        120 
RLRQLHPWCS GNMVQGKELP LLHRVAFLDH LCKQKSEVEE EGEEEEEGED EASLDPLKPC 

       130        140        150        160        170        180 
SPTKEAPTGE QATPAPPQPS CGSEGLLKAI GIPEQTVMQP VSPSRSFPIF QILTSFPVRH 

       190        200        210        220        230        240 
KIASGNRQQQ RKSQLFWGLP SLHSESLEAI FLSSGGPSPL KWSVCSSVFF NKLAFLPRSN 

       250        260        270        280        290        300 
LLLPQYHSSA QFSTHGAHTM EDLEGMAPDP QLLPPPSSPS VSSLLLHLRP FPVDHKGVLS 

       310        320        330        340        350        360 
GAEAPTQSPG TSPLEVLPGY ETHLETTGHK KMPQAFEPPM PPPCQSPASL SEPRKVSPEG 

       370        380        390        400        410        420 
GLAISKDFWG TVGYREKPQA SESSMPVPCP PLDSLPELQR ESSLEDPSRY KPQWECRENS 

       430        440        450        460        470        480 
GNLWAFESPV LDLNPELSGT SPECVPPASE TPWKGMQSRE NIWVPADPVS PPSLPSVPLL 

       490        500        510        520        530        540 
ESLVMGPQGV LSESKALWET MGQKENLWAS DSPDPVHSTP PTTLMEPHRI NPGECLATSE 

       550        560        570        580        590        600 
ATWKDTEHSR NSSASRSPSL ALSPPPALAP ELLRVRSMGV LSDSEARCGD IQKTKNSWAS 

       610        620        630        640        650        660 
KHPACNLPQD LHGASPLGVL SDSQSIVGEM EQKENCVPVF PGRGSSPSSN SVSKSHVSEP 

       670        680        690        700        710        720 
IADQSNYKPD GEAVEQRKNH WATELPAPSS LSTPLPEPHI DLELVWRNVQ QREVPQGPSP 

       730        740        750        760        770        780 
LAVDPLHPVP QPPTLAEAVK IERTHPGLPK GVTCPGVKAE APLSQRWTVP ELLTHPGIHA 

       790        800        810        820        830        840 
WQWSRELKLR LKKLRQSPAS RAPGPSQSFC SSPILSSTIP DFWGLPSCPP QQIYPPNPCP 

       850        860        870        880        890        900 
HSSSCHPQEV QRTVPQPVQS SHCHHFQSSS QLQPQESGRA EQGSQRGEKM KGKMVSQVPS 

       910        920        930        940        950        960 
QGPCVHMEAG VDYLSPGPGE PSNSKVLVSG KRKDKASASS SAKKREHPRK PKAGDHRRGT 

       970        980        990       1000       1010       1020 
ARLGLSTVTG KNHPAQARSL VEAPVSTFPQ RSQHRGQSSQ HTALPQLLLP KASGPQDQPE 

      1030       1040       1050       1060       1070 
AGRRASDILT PRHCKHCPWA HMEKYLSFPT LKASLTRGLQ KVLAKCLDNH RPLPTKSSQ 

« Hide

Isoform 2 [UniParc].

Checksum: E5C93BEAF39F5623
Show »

FASTA1,031112,477
Isoform 3 [UniParc].

Checksum: 5434D6658011A009
Show »

FASTA1,006109,417

References

[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. expand/collapse author list , 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]"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 929-1079 (ISOFORM 1).
Tissue: Testis.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL353795 Genomic DNA. Translation: CAH70992.1.
BC045643 mRNA. Translation: AAH45643.1. Different initiation.
AL133575 mRNA. Translation: CAB63722.1.
CCDSCCDS47961.1. [Q5VYM1-2]
CCDS47962.1. [Q5VYM1-3]
CCDS6572.2. [Q5VYM1-1]
PIRT43478.
RefSeqNP_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]
UniGeneHs.148250.
Hs.742567.

3D structure databases

ProteinModelPortalQ5VYM1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ5VYM1. 2 interactions.

PTM databases

PhosphoSiteQ5VYM1.

Polymorphism databases

DMDM212276515.

Proteomic databases

PaxDbQ5VYM1.
PRIDEQ5VYM1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312292; ENSP00000308279; ENSG00000174038. [Q5VYM1-1]
ENST00000354479; ENSP00000346472; ENSG00000174038. [Q5VYM1-3]
ENST00000421362; ENSP00000393683; ENSG00000174038. [Q5VYM1-2]
GeneID138724.
KEGGhsa:138724.
UCSCuc003zvw.3. human. [Q5VYM1-1]

Organism-specific databases

CTD138724.
GeneCardsGC09P035024.
H-InvDBHIX0114895.
HIX0201378.
HGNCHGNC:31418. C9orf131.
HPAHPA022029.
neXtProtNX_Q5VYM1.
PharmGKBPA145149697.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40075.
HOGENOMHOG000111660.
HOVERGENHBG099349.
InParanoidQ5VYM1.
OMARHCGSSC.
OrthoDBEOG7PP565.
PhylomeDBQ5VYM1.
TreeFamTF337467.

Gene expression databases

ArrayExpressQ5VYM1.
BgeeQ5VYM1.
CleanExHS_C9orf131.
GenevestigatorQ5VYM1.

Family and domain databases

InterProIPR026677. UPF_C9orf131.
[Graphical view]
PANTHERPTHR21777. PTHR21777. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi138724.
NextBio83825.

Entry information

Entry nameCI131_HUMAN
AccessionPrimary (citable) accession number: Q5VYM1
Secondary accession number(s): A6NLE6 expand/collapse secondary AC list , E9PB26, Q86XC6, Q9UF74
Entry history
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 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

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 9

Human chromosome 9: entries, gene names and cross-references to MIM