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Protein

Uncharacterized protein C9orf171

Gene

C9orf171

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

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C9orf171
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:33776. C9orf171.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164717530.

Polymorphism and mutation databases

BioMutaiC9orf171.
DMDMi74710954.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 320320Uncharacterized protein C9orf171PRO_0000325973Add
BLAST

Proteomic databases

PaxDbiQ6ZQR2.
PeptideAtlasiQ6ZQR2.
PRIDEiQ6ZQR2.

PTM databases

iPTMnetiQ6ZQR2.
PhosphoSiteiQ6ZQR2.

Expressioni

Gene expression databases

BgeeiENSG00000188523.
ExpressionAtlasiQ6ZQR2. baseline and differential.

Organism-specific databases

HPAiHPA021329.
HPA024647.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TCF4P158843EBI-10255140,EBI-533224

Protein-protein interaction databases

BioGridi133276. 2 interactions.
IntActiQ6ZQR2. 1 interaction.
STRINGi9606.ENSP00000343290.

Structurei

3D structure databases

ProteinModelPortaliQ6ZQR2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IM44. Eukaryota.
ENOG4111I1W. LUCA.
GeneTreeiENSGT00390000014476.
HOGENOMiHOG000230914.
InParanoidiQ6ZQR2.
OMAiQYRATHD.
OrthoDBiEOG091G0KEC.
PhylomeDBiQ6ZQR2.
TreeFamiTF329723.

Family and domain databases

InterProiIPR029147. DUF4483.
[Graphical view]
PfamiPF14825. DUF4483. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZQR2-1) [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
MPEARSSGPD LTRWRKQQQP VRRTVSQVCP PPRRPLTVAD IRSGMENERL
60 70 80 90 100
GVVRDSMFQN PLIVKAAGPA SVGTSYSVYD SSAVQKVIPS LAGHHIKGGP
110 120 130 140 150
QAELGKPRER SYSLPGINFN YGLYIRGLDG GVPEAIGRWN VFKQQPTCPH
160 170 180 190 200
ELTRNYIAMN RGAVKAGLVT ARENLLYRQL NDIRISDQDD RRMKKEPPPL
210 220 230 240 250
PPNMTFGIRA RPSTPFFDLL QHRYLQLWVQ EQKATQKAIK LEKKQKVVLG
260 270 280 290 300
KLYETRSSQL RKYKPPVKLD TLWHMPHFQK VGRHLDTFPT EADRQRALKA
310 320
HREECAVRQG TLRMGNYTHP
Note: No experimental confirmation available.
Length:320
Mass (Da):36,499
Last modified:July 5, 2004 - v1
Checksum:i1625636B9E0E8385
GO
Isoform 2 (identifier: Q6ZQR2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-102: Missing.

Note: No experimental confirmation available.
Show »
Length:284
Mass (Da):32,979
Checksum:i0DCDBA47F376852A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371G → R.
Corresponds to variant rs7047726 [ dbSNP | Ensembl ].
VAR_039959
Natural varianti172 – 1721R → W in a colorectal cancer sample; somatic mutation. 1 Publication
Corresponds to variant rs149346027 [ dbSNP | Ensembl ].
VAR_039960
Natural varianti184 – 1841R → H.
Corresponds to variant rs11243798 [ dbSNP | Ensembl ].
VAR_039961
Natural varianti244 – 2441K → Q.
Corresponds to variant rs34650498 [ dbSNP | Ensembl ].
VAR_062164

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei67 – 10236Missing in isoform 2. 1 PublicationVSP_032507Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK128819 mRNA. Translation: BAC87621.1.
AL353701, AL354735 Genomic DNA. Translation: CAM14153.1.
AL354735, AL353701 Genomic DNA. Translation: CAM23216.1.
CH471090 Genomic DNA. Translation: EAW88003.1.
CH471090 Genomic DNA. Translation: EAW88004.1.
BC118593 mRNA. Translation: AAI18594.1.
BC124555 mRNA. Translation: AAI24556.1.
CCDSiCCDS65167.1. [Q6ZQR2-2]
CCDS6949.1. [Q6ZQR2-1]
RefSeqiNP_001269886.1. NM_001282957.1. [Q6ZQR2-2]
NP_997300.1. NM_207417.2. [Q6ZQR2-1]
UniGeneiHs.201709.

Genome annotation databases

EnsembliENST00000343036; ENSP00000343290; ENSG00000188523. [Q6ZQR2-1]
ENST00000393216; ENSP00000376909; ENSG00000188523. [Q6ZQR2-2]
GeneIDi389799.
KEGGihsa:389799.
UCSCiuc004cbn.5. human. [Q6ZQR2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK128819 mRNA. Translation: BAC87621.1.
AL353701, AL354735 Genomic DNA. Translation: CAM14153.1.
AL354735, AL353701 Genomic DNA. Translation: CAM23216.1.
CH471090 Genomic DNA. Translation: EAW88003.1.
CH471090 Genomic DNA. Translation: EAW88004.1.
BC118593 mRNA. Translation: AAI18594.1.
BC124555 mRNA. Translation: AAI24556.1.
CCDSiCCDS65167.1. [Q6ZQR2-2]
CCDS6949.1. [Q6ZQR2-1]
RefSeqiNP_001269886.1. NM_001282957.1. [Q6ZQR2-2]
NP_997300.1. NM_207417.2. [Q6ZQR2-1]
UniGeneiHs.201709.

3D structure databases

ProteinModelPortaliQ6ZQR2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi133276. 2 interactions.
IntActiQ6ZQR2. 1 interaction.
STRINGi9606.ENSP00000343290.

PTM databases

iPTMnetiQ6ZQR2.
PhosphoSiteiQ6ZQR2.

Polymorphism and mutation databases

BioMutaiC9orf171.
DMDMi74710954.

Proteomic databases

PaxDbiQ6ZQR2.
PeptideAtlasiQ6ZQR2.
PRIDEiQ6ZQR2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343036; ENSP00000343290; ENSG00000188523. [Q6ZQR2-1]
ENST00000393216; ENSP00000376909; ENSG00000188523. [Q6ZQR2-2]
GeneIDi389799.
KEGGihsa:389799.
UCSCiuc004cbn.5. human. [Q6ZQR2-1]

Organism-specific databases

CTDi389799.
GeneCardsiC9orf171.
H-InvDBHIX0025832.
HGNCiHGNC:33776. C9orf171.
HPAiHPA021329.
HPA024647.
neXtProtiNX_Q6ZQR2.
PharmGKBiPA164717530.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IM44. Eukaryota.
ENOG4111I1W. LUCA.
GeneTreeiENSGT00390000014476.
HOGENOMiHOG000230914.
InParanoidiQ6ZQR2.
OMAiQYRATHD.
OrthoDBiEOG091G0KEC.
PhylomeDBiQ6ZQR2.
TreeFamiTF329723.

Miscellaneous databases

GenomeRNAii389799.
PROiQ6ZQR2.

Gene expression databases

BgeeiENSG00000188523.
ExpressionAtlasiQ6ZQR2. baseline and differential.

Family and domain databases

InterProiIPR029147. DUF4483.
[Graphical view]
PfamiPF14825. DUF4483. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCI171_HUMAN
AccessioniPrimary (citable) accession number: Q6ZQR2
Secondary accession number(s): Q147X1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: July 5, 2004
Last modified: September 7, 2016
This is version 87 of the entry and version 1 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

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

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 one 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.