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Protein

Uncharacterized protein C9orf131

Gene

C9orf131

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 C9orf131PRO_0000294443Add
BLAST

Proteomic databases

PaxDbiQ5VYM1.
PRIDEiQ5VYM1.

PTM databases

PhosphoSiteiQ5VYM1.

Expressioni

Gene expression databases

BgeeiQ5VYM1.
CleanExiHS_C9orf131.
ExpressionAtlasiQ5VYM1. baseline and differential.
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.
GeneTreeiENSGT00390000000748.
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. AlignAdd to basket

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

        10         20         30         40         50
MEWLLEDLLG AKGDMGLLWG QLTHALACRH CGSSCFQSPG NLVTLFLFVV
60 70 80 90 100
WQIQRWWQLG RLRQLHPWCS GNMVQGKELP LLHRVAFLDH LCKQKSEVEE
110 120 130 140 150
EGEEEEEGED EASLDPLKPC SPTKEAPTGE QATPAPPQPS CGSEGLLKAI
160 170 180 190 200
GIPEQTVMQP VSPSRSFPIF QILTSFPVRH KIASGNRQQQ RKSQLFWGLP
210 220 230 240 250
SLHSESLEAI FLSSGGPSPL KWSVCSSVFF NKLAFLPRSN LLLPQYHSSA
260 270 280 290 300
QFSTHGAHTM EDLEGMAPDP QLLPPPSSPS VSSLLLHLRP FPVDHKGVLS
310 320 330 340 350
GAEAPTQSPG TSPLEVLPGY ETHLETTGHK KMPQAFEPPM PPPCQSPASL
360 370 380 390 400
SEPRKVSPEG GLAISKDFWG TVGYREKPQA SESSMPVPCP PLDSLPELQR
410 420 430 440 450
ESSLEDPSRY KPQWECRENS GNLWAFESPV LDLNPELSGT SPECVPPASE
460 470 480 490 500
TPWKGMQSRE NIWVPADPVS PPSLPSVPLL ESLVMGPQGV LSESKALWET
510 520 530 540 550
MGQKENLWAS DSPDPVHSTP PTTLMEPHRI NPGECLATSE ATWKDTEHSR
560 570 580 590 600
NSSASRSPSL ALSPPPALAP ELLRVRSMGV LSDSEARCGD IQKTKNSWAS
610 620 630 640 650
KHPACNLPQD LHGASPLGVL SDSQSIVGEM EQKENCVPVF PGRGSSPSSN
660 670 680 690 700
SVSKSHVSEP IADQSNYKPD GEAVEQRKNH WATELPAPSS LSTPLPEPHI
710 720 730 740 750
DLELVWRNVQ QREVPQGPSP LAVDPLHPVP QPPTLAEAVK IERTHPGLPK
760 770 780 790 800
GVTCPGVKAE APLSQRWTVP ELLTHPGIHA WQWSRELKLR LKKLRQSPAS
810 820 830 840 850
RAPGPSQSFC SSPILSSTIP DFWGLPSCPP QQIYPPNPCP HSSSCHPQEV
860 870 880 890 900
QRTVPQPVQS SHCHHFQSSS QLQPQESGRA EQGSQRGEKM KGKMVSQVPS
910 920 930 940 950
QGPCVHMEAG VDYLSPGPGE PSNSKVLVSG KRKDKASASS SAKKREHPRK
960 970 980 990 1000
PKAGDHRRGT ARLGLSTVTG KNHPAQARSL VEAPVSTFPQ RSQHRGQSSQ
1010 1020 1030 1040 1050
HTALPQLLLP KASGPQDQPE AGRRASDILT PRHCKHCPWA HMEKYLSFPT
1060 1070
LKASLTRGLQ KVLAKCLDNH RPLPTKSSQ
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. Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ5VYM1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ5VYM1. 2 interactions.

PTM databases

PhosphoSiteiQ5VYM1.

Polymorphism databases

DMDMi212276515.

Proteomic databases

PaxDbiQ5VYM1.
PRIDEiQ5VYM1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi138724.
GeneCardsiGC09P035024.
H-InvDBHIX0114895.
HIX0201378.
HGNCiHGNC:31418. C9orf131.
HPAiHPA022029.
neXtProtiNX_Q5VYM1.
PharmGKBiPA145149697.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG40075.
GeneTreeiENSGT00390000000748.
HOGENOMiHOG000111660.
HOVERGENiHBG099349.
InParanoidiQ5VYM1.
OMAiRHCGSSC.
OrthoDBiEOG7PP565.
PhylomeDBiQ5VYM1.
TreeFamiTF337467.

Miscellaneous databases

GenomeRNAii138724.
NextBioi83825.

Gene expression databases

BgeeiQ5VYM1.
CleanExiHS_C9orf131.
ExpressionAtlasiQ5VYM1. baseline and differential.
GenevestigatoriQ5VYM1.

Family and domain databases

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

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: January 7, 2015
This is version 75 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.