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Protein

Uncharacterized protein C9orf173

Gene

C9orf173

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 C9orf173
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:37285. C9orf173.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165585550.

Polymorphism and mutation databases

BioMutaiC9orf173.
DMDMi74729306.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 389389Uncharacterized protein C9orf173PRO_0000325615Add
BLAST

Proteomic databases

EPDiQ8N7X2.
PaxDbiQ8N7X2.
PRIDEiQ8N7X2.

PTM databases

PhosphoSiteiQ8N7X2.

Expressioni

Gene expression databases

BgeeiENSG00000197768.
ExpressionAtlasiQ8N7X2. baseline and differential.
GenevisibleiQ8N7X2. HS.

Organism-specific databases

HPAiHPA044352.

Interactioni

Protein-protein interaction databases

BioGridi137505. 3 interactions.
STRINGi9606.ENSP00000391218.

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IX0Q. Eukaryota.
ENOG4111W6G. LUCA.
GeneTreeiENSGT00390000009524.
HOGENOMiHOG000236307.
HOVERGENiHBG070870.
InParanoidiQ8N7X2.
OMAiQKWPSPA.
OrthoDBiEOG091G0VYL.
PhylomeDBiQ8N7X2.
TreeFamiTF329447.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N7X2-1) [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
MMNSDQKAVK FLANFYINGG KHWTHGHLRQ TQPEPTQPKA SVLLLGPEPG
60 70 80 90 100
MAWDETQPPK MKEIPVGLRL QTGTPQESLP TYTQTLRELL LEQRPLITAD
110 120 130 140 150
LEVPSPTRYQ VPSPSVRESS PHPHYSIGCK HQGREGGGRR AWQTLWFQSE
160 170 180 190 200
SPFTQKADFD QEQKWPSPAH YQLLSRPAFP AFSFRGCHSA SKTPEGHTHL
210 220 230 240 250
GLPGARGLGL RVQPQSLLQA SLQAPGKRCP GPNTYNILPG SRLQSPRSPA
260 270 280 290 300
FSMSRSPAFT SWLSTWLPAF SFGSPNPWPS RLPRGGLQLT LPFGAWRGHP
310 320 330 340 350
GCTQTQAPRH RPLLHALEPA GHNLLGPATE WNHGLPRGFP RPPLGLGAPA
360 370 380
WPSDPLGTPM HPSGWPTLLW AVDKAGPAWI PHLPISPLH
Length:389
Mass (Da):42,877
Last modified:October 1, 2002 - v1
Checksum:iCEF90A9D068FF212
GO
Isoform 2 (identifier: Q8N7X2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     266-269: WLPA → S

Show »
Length:386
Mass (Da):42,496
Checksum:i62EBD0C134F8449D
GO
Isoform 3 (identifier: Q8N7X2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     165-219: Missing.
     266-269: WLPA → S

Show »
Length:331
Mass (Da):36,553
Checksum:i25130715DF99D41C
GO
Isoform 4 (identifier: Q8N7X2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     266-308: WLPAFSFGSP...HPGCTQTQAP → SRTPGPAAYH...RHDTGPFCTL
     309-389: Missing.

Show »
Length:308
Mass (Da):34,134
Checksum:iD22F43CD1DD4C623
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti126 – 1261S → G.
Corresponds to variant rs28657439 [ dbSNP | Ensembl ].
VAR_039898

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei165 – 21955Missing in isoform 3. 1 PublicationVSP_032382Add
BLAST
Alternative sequencei266 – 30843WLPAF…QTQAP → SRTPGPAAYHVEDCNSRFPS APGVVIQGVRRPKRHDTGPF CTL in isoform 4. 1 PublicationVSP_038834Add
BLAST
Alternative sequencei266 – 2694WLPA → S in isoform 2 and isoform 3. 1 PublicationVSP_032383
Alternative sequencei309 – 38981Missing in isoform 4. 1 PublicationVSP_038835Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097565 mRNA. Translation: BAC05104.1.
BC033939 mRNA. Translation: AAH33939.2.
BC132726 mRNA. Translation: AAI32727.1.
BC144308 mRNA. Translation: AAI44309.1.
BC144314 mRNA. Translation: AAI44315.1.
CCDSiCCDS48065.1. [Q8N7X2-4]
CCDS59156.1. [Q8N7X2-2]
CCDS75940.1. [Q8N7X2-3]
RefSeqiNP_001004353.2. NM_001004353.3. [Q8N7X2-4]
NP_001243628.1. NM_001256699.1. [Q8N7X2-2]
NP_001243629.1. NM_001256700.1. [Q8N7X2-3]
NP_001243630.1. NM_001256701.1.
XP_006717176.1. XM_006717113.2. [Q8N7X2-2]
UniGeneiHs.372640.

Genome annotation databases

EnsembliENST00000388931; ENSP00000373583; ENSG00000197768. [Q8N7X2-2]
ENST00000412566; ENSP00000391218; ENSG00000197768. [Q8N7X2-4]
ENST00000611378; ENSP00000477998; ENSG00000197768. [Q8N7X2-3]
GeneIDi441476.
KEGGihsa:441476.
UCSCiuc004cmj.2. human. [Q8N7X2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097565 mRNA. Translation: BAC05104.1.
BC033939 mRNA. Translation: AAH33939.2.
BC132726 mRNA. Translation: AAI32727.1.
BC144308 mRNA. Translation: AAI44309.1.
BC144314 mRNA. Translation: AAI44315.1.
CCDSiCCDS48065.1. [Q8N7X2-4]
CCDS59156.1. [Q8N7X2-2]
CCDS75940.1. [Q8N7X2-3]
RefSeqiNP_001004353.2. NM_001004353.3. [Q8N7X2-4]
NP_001243628.1. NM_001256699.1. [Q8N7X2-2]
NP_001243629.1. NM_001256700.1. [Q8N7X2-3]
NP_001243630.1. NM_001256701.1.
XP_006717176.1. XM_006717113.2. [Q8N7X2-2]
UniGeneiHs.372640.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi137505. 3 interactions.
STRINGi9606.ENSP00000391218.

PTM databases

PhosphoSiteiQ8N7X2.

Polymorphism and mutation databases

BioMutaiC9orf173.
DMDMi74729306.

Proteomic databases

EPDiQ8N7X2.
PaxDbiQ8N7X2.
PRIDEiQ8N7X2.

Protocols and materials databases

DNASUi441476.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000388931; ENSP00000373583; ENSG00000197768. [Q8N7X2-2]
ENST00000412566; ENSP00000391218; ENSG00000197768. [Q8N7X2-4]
ENST00000611378; ENSP00000477998; ENSG00000197768. [Q8N7X2-3]
GeneIDi441476.
KEGGihsa:441476.
UCSCiuc004cmj.2. human. [Q8N7X2-1]

Organism-specific databases

CTDi441476.
GeneCardsiC9orf173.
HGNCiHGNC:37285. C9orf173.
HPAiHPA044352.
neXtProtiNX_Q8N7X2.
PharmGKBiPA165585550.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IX0Q. Eukaryota.
ENOG4111W6G. LUCA.
GeneTreeiENSGT00390000009524.
HOGENOMiHOG000236307.
HOVERGENiHBG070870.
InParanoidiQ8N7X2.
OMAiQKWPSPA.
OrthoDBiEOG091G0VYL.
PhylomeDBiQ8N7X2.
TreeFamiTF329447.

Miscellaneous databases

GenomeRNAii441476.
PROiQ8N7X2.

Gene expression databases

BgeeiENSG00000197768.
ExpressionAtlasiQ8N7X2. baseline and differential.
GenevisibleiQ8N7X2. HS.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiCI173_HUMAN
AccessioniPrimary (citable) accession number: Q8N7X2
Secondary accession number(s): A2RU24
, B7ZM72, B7ZM76, Q8NEA3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: October 1, 2002
Last modified: September 7, 2016
This is version 82 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.