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Protein

Uncharacterized protein C3orf20

Gene

C3orf20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C3orf20
Gene namesi
Name:C3orf20
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:25320. C3orf20.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei778 – 79821HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134977176.

Polymorphism and mutation databases

BioMutaiC3orf20.
DMDMi116241285.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 904904Uncharacterized protein C3orf20PRO_0000228843Add
BLAST

Proteomic databases

PaxDbiQ8ND61.
PRIDEiQ8ND61.

PTM databases

PhosphoSiteiQ8ND61.

Expressioni

Gene expression databases

BgeeiQ8ND61.
CleanExiHS_C3orf20.
ExpressionAtlasiQ8ND61. baseline and differential.
GenevisibleiQ8ND61. HS.

Organism-specific databases

HPAiHPA039584.
HPA040049.

Interactioni

Protein-protein interaction databases

BioGridi123872. 2 interactions.
MINTiMINT-4716605.

Structurei

3D structure databases

ProteinModelPortaliQ8ND61.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi94 – 10512Poly-ProAdd
BLAST
Compositional biasi575 – 5784Poly-Glu
Compositional biasi857 – 8604Poly-Ser

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39279.
GeneTreeiENSGT00390000015388.
HOGENOMiHOG000111359.
HOVERGENiHBG081004.
InParanoidiQ8ND61.
OMAiMILMFAG.
OrthoDBiEOG7KH9J2.
PhylomeDBiQ8ND61.
TreeFamiTF333451.

Family and domain databases

InterProiIPR029281. FAM194.
[Graphical view]
PfamiPF14977. FAM194. 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: Q8ND61-1) [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
MSYIKSNLEL YQQYTAMAPK LLARISKLLM ICQNAGISVP KGIRNIFEFT
60 70 80 90 100
WEELISDPSV PTPSDILGLE VSFGAPLVVL MEPTFVQVPT LKKPLPPPPP
110 120 130 140 150
APPRPVLLAT TGAAKRSTLS PTMARQVRTH QETLNRFQQQ SIHLLTELLR
160 170 180 190 200
LKMKAMVESM SVGANPLDIT RRFVEASQLL HLNAKEMAFN CLISTAGRSG
210 220 230 240 250
YSSGQLWKES LANMSAIGVN SPYQLIYHSS TACLSFSLSA GKEAKKKIGK
260 270 280 290 300
SRTTEDVSMP PLHRGVGTPA NSLEFSDPCP EAREKLQELC RHIEAERATW
310 320 330 340 350
KGRNISYPMI LRNYKAKMPS HLMLARKGDS QTPGLHYPPT AGAQTLSPTS
360 370 380 390 400
HPSSANHHFS QHCQEGKAPK KAFKFHYTFY DGSSFVYYPS GNVAVCQIPT
410 420 430 440 450
CCRGRTITCL FNDIPGFSLL ALFNTEGQGC VHYNLKTSCP YVLILDEEGG
460 470 480 490 500
TTNDQQGYVV HKWSWTSRTE TLLSLEYKVN EEMKLKVLGQ DSITVTFTSL
510 520 530 540 550
NETVTLTVSA NNCPHGMAYD KRLNRRISNM DDKVYKMSRA LAEIKKRFQK
560 570 580 590 600
TVTQFINSIL LAAGLFTIEY PTKKEEEEFV RFKMRSRTHP ERLPKLSLYS
610 620 630 640 650
GESLLRSQSG HLESSIAETL KDEPESAPVS PVRKTTKIHT KAKVTSRGKA
660 670 680 690 700
REGRSPTRWA ALPSDCPLVL RKLMLKEDTR AGCKCLVKAP LVSDVELERF
710 720 730 740 750
LLAPRDPSQV LVFGIISSQN YTSTGQLQWL LNTLYNHQQR GRGSPCIQCR
760 770 780 790 800
YDSYRLLQYD LDSPLQEDPP LMVKKNSVVQ GMILMFAGGK LIFGGRVLNG
810 820 830 840 850
YGLSKQNLLK QIFRSQQDYK MGYFLPDDYK FSVPNSVLSL EDSESVKKAE
860 870 880 890 900
SEDIQGSSSS LALEDYVEKE LSLEAEKTRE PEVELHPLSR DSKITSWKKQ

ASKK
Length:904
Mass (Da):101,266
Last modified:October 17, 2006 - v2
Checksum:i82A77FA4740D8263
GO
Isoform 2 (identifier: Q8ND61-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-122: Missing.

Show »
Length:782
Mass (Da):88,030
Checksum:iDE29034A2FF26763
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421G → D.
Corresponds to variant rs17040154 [ dbSNP | Ensembl ].
VAR_027886
Natural varianti65 – 651D → N.
Corresponds to variant rs9821143 [ dbSNP | Ensembl ].
VAR_027887
Natural varianti176 – 1761A → T.
Corresponds to variant rs17040196 [ dbSNP | Ensembl ].
VAR_025722
Natural varianti205 – 2051Q → R.
Corresponds to variant rs34230332 [ dbSNP | Ensembl ].
VAR_056770
Natural varianti230 – 2301S → Y.1 Publication
Corresponds to variant rs17852774 [ dbSNP | Ensembl ].
VAR_027888
Natural varianti298 – 2981A → T.2 Publications
Corresponds to variant rs17040196 [ dbSNP | Ensembl ].
VAR_027889
Natural varianti407 – 4071I → V.2 Publications
Corresponds to variant rs6765537 [ dbSNP | Ensembl ].
VAR_027890
Natural varianti422 – 4221L → V.2 Publications
Corresponds to variant rs6790129 [ dbSNP | Ensembl ].
VAR_027891
Natural varianti689 – 6891A → V.
Corresponds to variant rs34045813 [ dbSNP | Ensembl ].
VAR_056771

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 122122Missing in isoform 2. 2 PublicationsVSP_017722Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136781 mRNA. Translation: CAB66715.1.
AL834386 mRNA. Translation: CAD39049.1.
BC030599 mRNA. Translation: AAH30599.1.
BC038406 mRNA. Translation: AAH38406.2.
CCDSiCCDS33706.1. [Q8ND61-1]
CCDS54555.1. [Q8ND61-2]
RefSeqiNP_001171886.1. NM_001184957.1. [Q8ND61-2]
NP_001171887.1. NM_001184958.1. [Q8ND61-2]
NP_115513.4. NM_032137.4. [Q8ND61-1]
UniGeneiHs.661452.

Genome annotation databases

EnsembliENST00000253697; ENSP00000253697; ENSG00000131379.
GeneIDi84077.
KEGGihsa:84077.
UCSCiuc003byy.3. human. [Q8ND61-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136781 mRNA. Translation: CAB66715.1.
AL834386 mRNA. Translation: CAD39049.1.
BC030599 mRNA. Translation: AAH30599.1.
BC038406 mRNA. Translation: AAH38406.2.
CCDSiCCDS33706.1. [Q8ND61-1]
CCDS54555.1. [Q8ND61-2]
RefSeqiNP_001171886.1. NM_001184957.1. [Q8ND61-2]
NP_001171887.1. NM_001184958.1. [Q8ND61-2]
NP_115513.4. NM_032137.4. [Q8ND61-1]
UniGeneiHs.661452.

3D structure databases

ProteinModelPortaliQ8ND61.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123872. 2 interactions.
MINTiMINT-4716605.

PTM databases

PhosphoSiteiQ8ND61.

Polymorphism and mutation databases

BioMutaiC3orf20.
DMDMi116241285.

Proteomic databases

PaxDbiQ8ND61.
PRIDEiQ8ND61.

Protocols and materials databases

DNASUi84077.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253697; ENSP00000253697; ENSG00000131379.
GeneIDi84077.
KEGGihsa:84077.
UCSCiuc003byy.3. human. [Q8ND61-1]

Organism-specific databases

CTDi84077.
GeneCardsiGC03P014716.
H-InvDBHIX0003088.
HGNCiHGNC:25320. C3orf20.
HPAiHPA039584.
HPA040049.
neXtProtiNX_Q8ND61.
PharmGKBiPA134977176.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG39279.
GeneTreeiENSGT00390000015388.
HOGENOMiHOG000111359.
HOVERGENiHBG081004.
InParanoidiQ8ND61.
OMAiMILMFAG.
OrthoDBiEOG7KH9J2.
PhylomeDBiQ8ND61.
TreeFamiTF333451.

Miscellaneous databases

GenomeRNAii84077.
NextBioi73291.
PROiQ8ND61.

Gene expression databases

BgeeiQ8ND61.
CleanExiHS_C3orf20.
ExpressionAtlasiQ8ND61. baseline and differential.
GenevisibleiQ8ND61. HS.

Family and domain databases

InterProiIPR029281. FAM194.
[Graphical view]
PfamiPF14977. FAM194. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS THR-298; VAL-407 AND VAL-422.
    Tissue: Testis.
  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] (ISOFORMS 1 AND 2), VARIANTS TYR-230; THR-298; VAL-407 AND VAL-422.
    Tissue: Brain.

Entry informationi

Entry nameiCC020_HUMAN
AccessioniPrimary (citable) accession number: Q8ND61
Secondary accession number(s): Q7L0U6, Q8NCP2, Q9H0I7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: October 17, 2006
Last modified: July 22, 2015
This is version 97 of the entry and version 2 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 3
    Human chromosome 3: 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.