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Protein

Uncharacterized protein C9orf131

Gene

C9orf131

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Caution

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

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C9orf131
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000174038.12
HGNCiHGNC:31418 C9orf131
neXtProtiNX_Q5VYM1

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000174038
PharmGKBiPA145149697

Polymorphism and mutation databases

BioMutaiC9orf131
DMDMi212276515

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002944431 – 1079Uncharacterized protein C9orf131Add BLAST1079

Proteomic databases

EPDiQ5VYM1
PaxDbiQ5VYM1
PeptideAtlasiQ5VYM1
PRIDEiQ5VYM1
ProteomicsDBi65638

PTM databases

iPTMnetiQ5VYM1
PhosphoSitePlusiQ5VYM1

Expressioni

Gene expression databases

BgeeiENSG00000174038
CleanExiHS_C9orf131
ExpressionAtlasiQ5VYM1 baseline and differential
GenevisibleiQ5VYM1 HS

Organism-specific databases

HPAiHPA022029

Interactioni

Protein-protein interaction databases

BioGridi126520, 1 interactor
IntActiQ5VYM1, 2 interactors

Structurei

3D structure databases

ProteinModelPortaliQ5VYM1
SMRiQ5VYM1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IVI7 Eukaryota
ENOG4111AZG LUCA
GeneTreeiENSGT00390000000748
HOGENOMiHOG000111660
HOVERGENiHBG099349
InParanoidiQ5VYM1
OMAiRHCGSSC
OrthoDBiEOG091G05E1
PhylomeDBiQ5VYM1
TreeFamiTF337467

Family and domain databases

InterProiView protein in InterPro
IPR026677 UPF_C9orf131
PANTHERiPTHR21777 PTHR21777, 2 hits

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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti218S → Y in AAH45643 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047239222W → L1 PublicationCorresponds to variant dbSNP:rs615474Ensembl.1
Natural variantiVAR_047240285L → F. Corresponds to variant dbSNP:rs10117097Ensembl.1
Natural variantiVAR_047241437L → V. Corresponds to variant dbSNP:rs35523761Ensembl.1
Natural variantiVAR_047242623S → T. Corresponds to variant dbSNP:rs2298312Ensembl.1
Natural variantiVAR_047243916P → S. Corresponds to variant dbSNP:rs3739871Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0462251 – 76MEWLL…NMVQG → MLR in isoform 3. CuratedAdd BLAST76
Alternative sequenceiVSP_0462241 – 52MEWLL…FVVWQ → MLRK in isoform 2. CuratedAdd BLAST52

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL353795 Genomic DNA No translation available.
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
UCSCiuc003zvu.5 human [Q5VYM1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCI131_HUMAN
AccessioniPrimary (citable) accession number: Q5VYM1
Secondary accession number(s): A6NLE6
, E9PB26, Q86XC6, Q9UF74
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: November 4, 2008
Last modified: June 20, 2018
This is version 93 of the entry and version 3 of the sequence. See 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 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

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