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Protein

UPF0317 protein C14orf159, mitochondrial

Gene

C14orf159

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

Names & Taxonomyi

Protein namesi
Recommended name:
UPF0317 protein C14orf159, mitochondrial
Gene namesi
ORF Names:UNQ2439/PRO5000
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20498. C14orf159.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000133943.
PharmGKBiPA134952868.

Polymorphism and mutation databases

BioMutaiC14orf159.
DMDMi48428039.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 28MitochondrionSequence analysisAdd BLAST28
ChainiPRO_000003629229 – 616UPF0317 protein C14orf159, mitochondrialAdd BLAST588

Proteomic databases

MaxQBiQ7Z3D6.
PaxDbiQ7Z3D6.
PeptideAtlasiQ7Z3D6.
PRIDEiQ7Z3D6.

PTM databases

iPTMnetiQ7Z3D6.
PhosphoSitePlusiQ7Z3D6.

Expressioni

Gene expression databases

BgeeiENSG00000133943.
CleanExiHS_C14orf159.
ExpressionAtlasiQ7Z3D6. baseline and differential.
GenevisibleiQ7Z3D6. HS.

Organism-specific databases

HPAiHPA041423.
HPA052932.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
PSMA3P257883EBI-2807872,EBI-348380

Protein-protein interaction databases

BioGridi123071. 8 interactors.
IntActiQ7Z3D6. 2 interactors.
MINTiMINT-4533526.
STRINGi9606.ENSP00000256324.

Structurei

3D structure databases

ProteinModelPortaliQ7Z3D6.
SMRiQ7Z3D6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UPF0317 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IGIV. Eukaryota.
COG4336. LUCA.
GeneTreeiENSGT00390000002237.
HOVERGENiHBG051034.
InParanoidiQ7Z3D6.
OMAiHAEMIQK.
OrthoDBiEOG091G02WW.
PhylomeDBiQ7Z3D6.
TreeFamiTF300254.

Family and domain databases

InterProiIPR009906. DUF1445.
IPR025504. DUF4392.
IPR017135. UPF0317_mt.
[Graphical view]
PfamiPF07286. DUF1445. 1 hit.
PF14336. DUF4392. 1 hit.
[Graphical view]
PIRSFiPIRSF037204. UCP037204. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z3D6-1) [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
MPFTLHLRSR LPSAIRSLIL QKKPNIRNTS SMAGELRPAS LVVLPRSLAP
60 70 80 90 100
AFERFCQVNT GPLPLLGQSE PEKWMLPPQG AISETRMGHP QFWKYEFGAC
110 120 130 140 150
TGSLASLEQY SEQLKDMVAF FLGCSFSLEE ALEKAGLPRR DPAGHSQTTV
160 170 180 190 200
PCVTHAGFCC PLVVTMRPIP KDKLEGLVRA CCSLGGEQGQ PVHMGDPELL
210 220 230 240 250
GIKELSKPAY GDAMVCPPGE VPVFWPSPLT SLGAVSSCET PLAFASIPGC
260 270 280 290 300
TVMTDLKDAK APPGCLTPER IPEVHHISQD PLHYSIASVS ASQKIRELES
310 320 330 340 350
MIGIDPGNRG IGHLLCKDEL LKASLSLSHA RSVLITTGFP THFNHEPPEE
360 370 380 390 400
TDGPPGAVAL VAFLQALEKE VAIIVDQRAW NLHQKIVEDA VEQGVLKTQI
410 420 430 440 450
PILTYQGGSV EAAQAFLCKN GDPQTPRFDH LVAIERAGRA ADGNYYNARK
460 470 480 490 500
MNIKHLVDPI DDLFLAAKKI PGISSTGVGD GGNELGMGKV KEAVRRHIRH
510 520 530 540 550
GDVIACDVEA DFAVIAGVSN WGGYALACAL YILYSCAVHS QYLRKAVGPS
560 570 580 590 600
RAPGDQAWTQ ALPSVIKEEK MLGILVQHKV RSGVSGIVGM EVDGLPFHNT
610
HAEMIQKLVD VTTAQV
Length:616
Mass (Da):66,437
Last modified:June 7, 2004 - v2
Checksum:iC33884FA33D4D1AC
GO
Isoform 2 (identifier: Q7Z3D6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-147: Q → QAGAYK

Show »
Length:621
Mass (Da):66,927
Checksum:i83EF9BEBBD38AE37
GO
Isoform 3 (identifier: Q7Z3D6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-147: Q → QAGAYK
     477-516: Missing.

Note: No experimental confirmation available.
Show »
Length:581
Mass (Da):62,782
Checksum:i3DD939B5DF4DC6E1
GO
Isoform 4 (identifier: Q7Z3D6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-147: Q → QAGAYK
     569-574: EKMLGI → SKGRKL
     575-616: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:579
Mass (Da):62,401
Checksum:i957E67F7EB24BC50
GO
Isoform 5 (identifier: Q7Z3D6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     186-197: Missing.
     477-516: Missing.

Note: No experimental confirmation available.
Show »
Length:564
Mass (Da):61,059
Checksum:i6A36A72C24467686
GO
Isoform 6 (identifier: Q7Z3D6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     86-159: RMGHPQFWKY...VPCVTHAGFC → SLRDLHSAWH...AQARNPPVQD
     160-616: Missing.

Note: No experimental confirmation available.
Show »
Length:159
Mass (Da):17,705
Checksum:iA2E225F80B94267B
GO

Sequence cautioni

The sequence BAB14932 differs from that shown. Reason: Frameshift at positions 436 and 582.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti32M → V in CAD97934 (PubMed:17974005).Curated1
Sequence conflicti147Q → P in AAQ88880 (PubMed:12975309).Curated1
Sequence conflicti165T → M in CAD97934 (PubMed:17974005).Curated1
Sequence conflicti349E → V in BAB14932 (PubMed:14702039).Curated1
Sequence conflicti368E → G in CAD97934 (PubMed:17974005).Curated1
Sequence conflicti497H → R in BAB14932 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01873810R → C.Corresponds to variant rs10142502dbSNPEnsembl.1
Natural variantiVAR_052599237S → N.Corresponds to variant rs34302825dbSNPEnsembl.1
Natural variantiVAR_052600372A → T.Corresponds to variant rs12895348dbSNPEnsembl.1
Natural variantiVAR_018739502D → N.Corresponds to variant rs2295524dbSNPEnsembl.1
Natural variantiVAR_052601507D → N.Corresponds to variant rs34523602dbSNPEnsembl.1
Natural variantiVAR_052602583G → D.Corresponds to variant rs34748911dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01050586 – 159RMGHP…HAGFC → SLRDLHSAWHRTSLMTVAQE RAALPTVLTPSPITWRLSWL RSLRSWRKSSPGEIPLALPS VHSIAQARNPPVQD in isoform 6. 1 PublicationAdd BLAST74
Alternative sequenceiVSP_010506147Q → QAGAYK in isoform 2, isoform 3 and isoform 4. 3 Publications1
Alternative sequenceiVSP_010507160 – 616Missing in isoform 6. 1 PublicationAdd BLAST457
Alternative sequenceiVSP_010508186 – 197Missing in isoform 5. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_010509477 – 516Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST40
Alternative sequenceiVSP_010510569 – 574EKMLGI → SKGRKL in isoform 4. 1 Publication6
Alternative sequenceiVSP_010511575 – 616Missing in isoform 4. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358516 mRNA. Translation: AAQ88880.1.
AK022564 mRNA. Translation: BAB14102.1.
AK023200 mRNA. Translation: BAB14458.1.
AK024603 mRNA. Translation: BAB14932.1. Sequence problems.
AK097294 mRNA. Translation: BAG53449.1.
BX161393 mRNA. Translation: CAD61880.1.
BX247989 mRNA. Translation: CAD62323.1.
BX248060 mRNA. Translation: CAD62356.1.
BX248294 mRNA. Translation: CAD62622.1.
BX248782 mRNA. Translation: CAD66589.1.
BX537970 mRNA. Translation: CAD97934.1.
BC009182 mRNA. Translation: AAH09182.1.
BC010614 mRNA. Translation: AAH10614.1.
BC065558 mRNA. Translation: AAH65558.1.
CCDSiCCDS32141.1. [Q7Z3D6-1]
CCDS41979.1. [Q7Z3D6-2]
CCDS45150.1. [Q7Z3D6-5]
CCDS66693.1. [Q7Z3D6-3]
CCDS73677.1. [Q7Z3D6-6]
RefSeqiNP_001095836.1. NM_001102366.2. [Q7Z3D6-1]
NP_001095837.1. NM_001102367.2. [Q7Z3D6-1]
NP_001095838.1. NM_001102368.2. [Q7Z3D6-2]
NP_001095839.1. NM_001102369.2. [Q7Z3D6-5]
NP_001273399.1. NM_001286470.1. [Q7Z3D6-2]
NP_001273400.1. NM_001286471.1. [Q7Z3D6-1]
NP_001273401.1. NM_001286472.1. [Q7Z3D6-3]
NP_001273402.1. NM_001286473.1. [Q7Z3D6-6]
NP_079228.4. NM_024952.7. [Q7Z3D6-1]
UniGeneiHs.309849.

Genome annotation databases

EnsembliENST00000256324; ENSP00000256324; ENSG00000133943. [Q7Z3D6-2]
ENST00000298858; ENSP00000298858; ENSG00000133943. [Q7Z3D6-6]
ENST00000412671; ENSP00000404196; ENSG00000133943. [Q7Z3D6-2]
ENST00000428926; ENSP00000404343; ENSG00000133943. [Q7Z3D6-1]
ENST00000518665; ENSP00000429098; ENSG00000133943. [Q7Z3D6-6]
ENST00000518868; ENSP00000428263; ENSG00000133943. [Q7Z3D6-2]
ENST00000520328; ENSP00000429453; ENSG00000133943. [Q7Z3D6-5]
ENST00000521077; ENSP00000430137; ENSG00000133943. [Q7Z3D6-3]
ENST00000522322; ENSP00000427953; ENSG00000133943. [Q7Z3D6-1]
ENST00000523771; ENSP00000429655; ENSG00000133943. [Q7Z3D6-1]
ENST00000523816; ENSP00000428974; ENSG00000133943. [Q7Z3D6-1]
ENST00000525393; ENSP00000435459; ENSG00000133943. [Q7Z3D6-3]
GeneIDi80017.
KEGGihsa:80017.
UCSCiuc001xyv.4. human. [Q7Z3D6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358516 mRNA. Translation: AAQ88880.1.
AK022564 mRNA. Translation: BAB14102.1.
AK023200 mRNA. Translation: BAB14458.1.
AK024603 mRNA. Translation: BAB14932.1. Sequence problems.
AK097294 mRNA. Translation: BAG53449.1.
BX161393 mRNA. Translation: CAD61880.1.
BX247989 mRNA. Translation: CAD62323.1.
BX248060 mRNA. Translation: CAD62356.1.
BX248294 mRNA. Translation: CAD62622.1.
BX248782 mRNA. Translation: CAD66589.1.
BX537970 mRNA. Translation: CAD97934.1.
BC009182 mRNA. Translation: AAH09182.1.
BC010614 mRNA. Translation: AAH10614.1.
BC065558 mRNA. Translation: AAH65558.1.
CCDSiCCDS32141.1. [Q7Z3D6-1]
CCDS41979.1. [Q7Z3D6-2]
CCDS45150.1. [Q7Z3D6-5]
CCDS66693.1. [Q7Z3D6-3]
CCDS73677.1. [Q7Z3D6-6]
RefSeqiNP_001095836.1. NM_001102366.2. [Q7Z3D6-1]
NP_001095837.1. NM_001102367.2. [Q7Z3D6-1]
NP_001095838.1. NM_001102368.2. [Q7Z3D6-2]
NP_001095839.1. NM_001102369.2. [Q7Z3D6-5]
NP_001273399.1. NM_001286470.1. [Q7Z3D6-2]
NP_001273400.1. NM_001286471.1. [Q7Z3D6-1]
NP_001273401.1. NM_001286472.1. [Q7Z3D6-3]
NP_001273402.1. NM_001286473.1. [Q7Z3D6-6]
NP_079228.4. NM_024952.7. [Q7Z3D6-1]
UniGeneiHs.309849.

3D structure databases

ProteinModelPortaliQ7Z3D6.
SMRiQ7Z3D6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123071. 8 interactors.
IntActiQ7Z3D6. 2 interactors.
MINTiMINT-4533526.
STRINGi9606.ENSP00000256324.

PTM databases

iPTMnetiQ7Z3D6.
PhosphoSitePlusiQ7Z3D6.

Polymorphism and mutation databases

BioMutaiC14orf159.
DMDMi48428039.

Proteomic databases

MaxQBiQ7Z3D6.
PaxDbiQ7Z3D6.
PeptideAtlasiQ7Z3D6.
PRIDEiQ7Z3D6.

Protocols and materials databases

DNASUi80017.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256324; ENSP00000256324; ENSG00000133943. [Q7Z3D6-2]
ENST00000298858; ENSP00000298858; ENSG00000133943. [Q7Z3D6-6]
ENST00000412671; ENSP00000404196; ENSG00000133943. [Q7Z3D6-2]
ENST00000428926; ENSP00000404343; ENSG00000133943. [Q7Z3D6-1]
ENST00000518665; ENSP00000429098; ENSG00000133943. [Q7Z3D6-6]
ENST00000518868; ENSP00000428263; ENSG00000133943. [Q7Z3D6-2]
ENST00000520328; ENSP00000429453; ENSG00000133943. [Q7Z3D6-5]
ENST00000521077; ENSP00000430137; ENSG00000133943. [Q7Z3D6-3]
ENST00000522322; ENSP00000427953; ENSG00000133943. [Q7Z3D6-1]
ENST00000523771; ENSP00000429655; ENSG00000133943. [Q7Z3D6-1]
ENST00000523816; ENSP00000428974; ENSG00000133943. [Q7Z3D6-1]
ENST00000525393; ENSP00000435459; ENSG00000133943. [Q7Z3D6-3]
GeneIDi80017.
KEGGihsa:80017.
UCSCiuc001xyv.4. human. [Q7Z3D6-1]

Organism-specific databases

CTDi80017.
GeneCardsiC14orf159.
HGNCiHGNC:20498. C14orf159.
HPAiHPA041423.
HPA052932.
neXtProtiNX_Q7Z3D6.
OpenTargetsiENSG00000133943.
PharmGKBiPA134952868.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGIV. Eukaryota.
COG4336. LUCA.
GeneTreeiENSGT00390000002237.
HOVERGENiHBG051034.
InParanoidiQ7Z3D6.
OMAiHAEMIQK.
OrthoDBiEOG091G02WW.
PhylomeDBiQ7Z3D6.
TreeFamiTF300254.

Miscellaneous databases

ChiTaRSiC14orf159. human.
GeneWikiiC14orf159.
GenomeRNAii80017.
PROiQ7Z3D6.

Gene expression databases

BgeeiENSG00000133943.
CleanExiHS_C14orf159.
ExpressionAtlasiQ7Z3D6. baseline and differential.
GenevisibleiQ7Z3D6. HS.

Family and domain databases

InterProiIPR009906. DUF1445.
IPR025504. DUF4392.
IPR017135. UPF0317_mt.
[Graphical view]
PfamiPF07286. DUF1445. 1 hit.
PF14336. DUF4392. 1 hit.
[Graphical view]
PIRSFiPIRSF037204. UCP037204. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCN159_HUMAN
AccessioniPrimary (citable) accession number: Q7Z3D6
Secondary accession number(s): B3KUI7
, Q86SW3, Q86SX8, Q86SX9, Q86T08, Q86TV5, Q96GW5, Q9H7G0, Q9H8Y9, Q9H9W6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: November 2, 2016
This is version 115 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 14
    Human chromosome 14: 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
  4. SIMILARITY comments
    Index of protein domains and families
  5. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

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.