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Protein

Telomere length and silencing protein 1 homolog

Gene

C9orf78

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

Functioni

Involved in the regulation of telomeric heterochromatin assembly and control of telomere length.By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
Telomere length and silencing protein 1 homologBy similarity
Alternative name(s):
Hepatocellular carcinoma-associated antigen 59
Gene namesi
Name:C9orf78
Synonyms:HCA59
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000136819.14
HGNCiHGNC:24932 C9orf78
neXtProtiNX_Q9NZ63

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000136819
PharmGKBiPA134929438

Polymorphism and mutation databases

BioMutaiC9orf78
DMDMi74753081

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002275231 – 289Telomere length and silencing protein 1 homologAdd BLAST289

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei15PhosphoserineCombined sources1
Modified residuei17PhosphoserineCombined sources1
Modified residuei147PhosphotyrosineCombined sources1
Modified residuei253PhosphothreonineCombined sources1
Modified residuei261PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NZ63
MaxQBiQ9NZ63
PaxDbiQ9NZ63
PeptideAtlasiQ9NZ63
PRIDEiQ9NZ63
TopDownProteomicsiQ9NZ63

PTM databases

iPTMnetiQ9NZ63
PhosphoSitePlusiQ9NZ63

Expressioni

Gene expression databases

BgeeiENSG00000136819
CleanExiHS_C9orf78
GenevisibleiQ9NZ63 HS

Organism-specific databases

HPAiHPA021216
HPA021232
HPA021242

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TERF2IPQ9NYB02EBI-2557577,EBI-750109

Protein-protein interaction databases

BioGridi119716, 36 interactors
IntActiQ9NZ63, 8 interactors
MINTiQ9NZ63
STRINGi9606.ENSP00000361524

Structurei

3D structure databases

ProteinModelPortaliQ9NZ63
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TLS1 family.

Phylogenomic databases

eggNOGiKOG3345 Eukaryota
ENOG410XTBJ LUCA
GeneTreeiENSGT00390000009787
HOGENOMiHOG000240083
HOVERGENiHBG055019
InParanoidiQ9NZ63
OMAiPFNVKTG
OrthoDBiEOG091G0QEQ
PhylomeDBiQ9NZ63
TreeFamiTF105871

Family and domain databases

InterProiView protein in InterPro
IPR010756 Tls1
PANTHERiPTHR13486 PTHR13486, 1 hit
PfamiView protein in Pfam
PF07052 Hep_59, 1 hit

Sequencei

Sequence statusi: Complete.

Q9NZ63-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPVVRKIFRR RRGDSESEED EQDSEEVRLK LEETREVQNL RKRPNGVSAV
60 70 80 90 100
ALLVGEKVQE ETTLVDDPFQ MKTGGMVDMK KLKERGKDKI SEEEDLHLGT
110 120 130 140 150
SFSAETNRRD EDADMMKYIE TELKKRKGIV EHEEQKVKPK NAEDCLYELP
160 170 180 190 200
ENIRVSSAKK TEEMLSNQML SGIPEVDLGI DAKIKNIIST EDAKARLLAE
210 220 230 240 250
QQNKKKDSET SFVPTNMAVN YVQHNRFYHE ELNAPIRRNK EEPKARPLRV
260 270 280
GDTEKPEPER SPPNRKRPAN EKATDDYHYE KFKKMNRRY
Length:289
Mass (Da):33,688
Last modified:October 1, 2000 - v1
Checksum:i3F691E6D17D1360E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti139P → S in AAH17570 (PubMed:15489334).Curated1
Sequence conflicti203N → S in AAH17570 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05082870Q → H. Corresponds to variant dbSNP:rs1237745Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF218421 mRNA Translation: AAF37561.1
AK057004 mRNA Translation: BAG51840.1
AL158207 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87910.1
BC007664 mRNA Translation: AAH07664.1
BC017570 mRNA Translation: AAH17570.1
AL137549 mRNA Translation: CAB70805.1
CCDSiCCDS6931.1
PIRiT46390
RefSeqiNP_057604.1, NM_016520.2
UniGeneiHs.278429

Genome annotation databases

EnsembliENST00000372447; ENSP00000361524; ENSG00000136819
GeneIDi51759
KEGGihsa:51759
UCSCiuc004byp.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTLS1_HUMAN
AccessioniPrimary (citable) accession number: Q9NZ63
Secondary accession number(s): B3KPX8, Q8WVU6, Q9NT39
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: October 1, 2000
Last modified: May 23, 2018
This is version 129 of the entry and version 1 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

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