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Protein

Protein SIX6OS1

Gene

SIX6OS1

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

Functioni

Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossover formation.By similarity

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDNA recombination, Meiosis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein SIX6OS1
Alternative name(s):
Six6 opposite strand transcript 1Imported
Gene namesi
Name:SIX6OS1Imported
Synonyms:C14orf39
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000179008.8
HGNCiHGNC:19849 C14orf39
MIMi617307 gene
neXtProtiNX_Q8N1H7

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

Keywords - Cellular componenti

Chromosome

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000179008
PharmGKBiPA134950036

Polymorphism and mutation databases

BioMutaiSIX6OS1
DMDMi296452892

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000898881 – 587Protein SIX6OS1Add BLAST587

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei439PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8N1H7
PeptideAtlasiQ8N1H7
PRIDEiQ8N1H7
ProteomicsDBi71602

PTM databases

iPTMnetiQ8N1H7
PhosphoSitePlusiQ8N1H7

Expressioni

Tissue specificityi

Highest expression in retina, skeletal muscle and colon.1 Publication

Gene expression databases

BgeeiENSG00000179008 Expressed in 77 organ(s), highest expression level in female gonad
CleanExiHS_C14orf39
ExpressionAtlasiQ8N1H7 baseline and differential
GenevisibleiQ8N1H7 HS

Organism-specific databases

HPAiHPA059518

Interactioni

Subunit structurei

Interacts with SYCE1.By similarity

Protein-protein interaction databases

IntActiQ8N1H7, 3 interactors
STRINGi9606.ENSP00000324920

Structurei

3D structure databases

ProteinModelPortaliQ8N1H7
SMRiQ8N1H7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi568 – 578Ser-richAdd BLAST11

Phylogenomic databases

eggNOGiENOG410IJEE Eukaryota
ENOG410Y2YA LUCA
GeneTreeiENSGT00390000010439
HOGENOMiHOG000154240
HOVERGENiHBG082423
InParanoidiQ8N1H7
OMAiMNETIFM
OrthoDBiEOG091G04QB
PhylomeDBiQ8N1H7
TreeFamiTF337593

Family and domain databases

InterProiView protein in InterPro
IPR031380 SIX6OS1
PANTHERiPTHR35449 PTHR35449, 1 hit
PfamiView protein in Pfam
PF15676 S6OS1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q8N1H7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MNDSLFVSLD RLLLEFVFQY EQDISTKEEM IQRINKCCED IKENKVTICR
60 70 80 90 100
IHETINATDE EIDHYCKHSE EIKDNCRNWK PTCDVFRKHE DYMQDQFTVY
110 120 130 140 150
QGTVEKDKEM YHDYICQYKE VLKQYQLKYS ETPFSREYYE KKREHEEIQS
160 170 180 190 200
RVLACTEQLK MNETIFMKFR VPAPFPSLTK WTLNIVNLRC ETQDILKHAS
210 220 230 240 250
NLTKSSSELK KEVDEMEIEI NYLNQQISRH NETKALSETL EEKNKNTENR
260 270 280 290 300
KELKERIFGK DEHVLTLNKT QSSQLFLPYE SQKLVRPIKM HSSEPRVADI
310 320 330 340 350
KEESSAKQSK LANIDFRQKE NDTQIFNDSA VDNHSKCSHI TTITSSQKFM
360 370 380 390 400
QVRLLTPQKQ SNSNQWSEKG DKDAEYGDKG TVRQVRESKC TSQAIYTEHF
410 420 430 440 450
GKSVENDSDE VEERAENFPR TSEIPIFLGT PKAVKAPESL EKIKFPKTPP
460 470 480 490 500
FEINRNRNAV PEVQTEKESP GLSFLMSYTS RSPGLNLFDS SVFDTEISSD
510 520 530 540 550
QFNEHYSARN LNPLSSEQEI GNLLEKPEGE DGFTFSFPSD TSTHTFGAGK
560 570 580
DDFSFPFSFG QGQNSIPSSS LKGFSSSSQN TTQFTFF
Length:587
Mass (Da):68,166
Last modified:May 18, 2010 - v2
Checksum:iA9EBB4EA5D689FC8
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V493G3V493_HUMAN
Chromosome 14 open reading frame 39
C14orf39
114Annotation score:
G3V3U9G3V3U9_HUMAN
Chromosome 14 open reading frame 39
C14orf39
88Annotation score:
H0YJQ0H0YJQ0_HUMAN
Chromosome 14 open reading frame 39
C14orf39
72Annotation score:
G3V257G3V257_HUMAN
Chromosome 14 open reading frame 39
C14orf39
37Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti306A → V in BAC05253 (PubMed:14702039).Curated1
Sequence conflicti524L → F in BAC05253 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056983125Y → C. Corresponds to variant dbSNP:rs1956551Ensembl.1
Natural variantiVAR_056984309S → L. Corresponds to variant dbSNP:rs1033734Ensembl.1
Natural variantiVAR_059715404V → I3 PublicationsCorresponds to variant dbSNP:rs11625921Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK098187 mRNA Translation: BAC05253.1
AL132778 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW80781.1
BC125070 mRNA Translation: AAI25071.1
CCDSiCCDS9746.1
RefSeqiNP_777638.2, NM_174978.2
UniGeneiHs.335754

Genome annotation databases

EnsembliENST00000321731; ENSP00000324920; ENSG00000179008
GeneIDi317761
KEGGihsa:317761
UCSCiuc001xez.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK098187 mRNA Translation: BAC05253.1
AL132778 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW80781.1
BC125070 mRNA Translation: AAI25071.1
CCDSiCCDS9746.1
RefSeqiNP_777638.2, NM_174978.2
UniGeneiHs.335754

3D structure databases

ProteinModelPortaliQ8N1H7
SMRiQ8N1H7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8N1H7, 3 interactors
STRINGi9606.ENSP00000324920

PTM databases

iPTMnetiQ8N1H7
PhosphoSitePlusiQ8N1H7

Polymorphism and mutation databases

BioMutaiSIX6OS1
DMDMi296452892

Proteomic databases

PaxDbiQ8N1H7
PeptideAtlasiQ8N1H7
PRIDEiQ8N1H7
ProteomicsDBi71602

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321731; ENSP00000324920; ENSG00000179008
GeneIDi317761
KEGGihsa:317761
UCSCiuc001xez.5 human

Organism-specific databases

CTDi317761
EuPathDBiHostDB:ENSG00000179008.8
GeneCardsiC14orf39
HGNCiHGNC:19849 C14orf39
HPAiHPA059518
MIMi617307 gene
neXtProtiNX_Q8N1H7
OpenTargetsiENSG00000179008
PharmGKBiPA134950036
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJEE Eukaryota
ENOG410Y2YA LUCA
GeneTreeiENSGT00390000010439
HOGENOMiHOG000154240
HOVERGENiHBG082423
InParanoidiQ8N1H7
OMAiMNETIFM
OrthoDBiEOG091G04QB
PhylomeDBiQ8N1H7
TreeFamiTF337593

Miscellaneous databases

GenomeRNAii317761
PROiPR:Q8N1H7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179008 Expressed in 77 organ(s), highest expression level in female gonad
CleanExiHS_C14orf39
ExpressionAtlasiQ8N1H7 baseline and differential
GenevisibleiQ8N1H7 HS

Family and domain databases

InterProiView protein in InterPro
IPR031380 SIX6OS1
PANTHERiPTHR35449 PTHR35449, 1 hit
PfamiView protein in Pfam
PF15676 S6OS1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiS6OS1_HUMAN
AccessioniPrimary (citable) accession number: Q8N1H7
Secondary accession number(s): Q08AQ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 104 of the entry and version 2 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

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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