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UniProtKB - Q5TGL8 (PXDC1_HUMAN)

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Protein

PX domain-containing protein 1

Gene

PXDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
PX domain-containing protein 1
Gene namesi
Name:PXDC1
Synonyms:C6orf145
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21361. PXDC1.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000168994.
PharmGKBiPA134944183.

Polymorphism and mutation databases

BioMutaiPXDC1.
DMDMi215274177.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002975731 – 231PX domain-containing protein 1Add BLAST231

Proteomic databases

EPDiQ5TGL8.
MaxQBiQ5TGL8.
PaxDbiQ5TGL8.
PeptideAtlasiQ5TGL8.
PRIDEiQ5TGL8.
TopDownProteomicsiQ5TGL8.

PTM databases

iPTMnetiQ5TGL8.
PhosphoSitePlusiQ5TGL8.

Expressioni

Gene expression databases

BgeeiENSG00000168994.
CleanExiHS_C6orf145.
ExpressionAtlasiQ5TGL8. baseline and differential.
GenevisibleiQ5TGL8. HS.

Organism-specific databases

HPAiHPA019246.

Interactioni

Protein-protein interaction databases

BioGridi128751. 4 interactors.
IntActiQ5TGL8. 2 interactors.
STRINGi9606.ENSP00000369636.

Structurei

3D structure databases

ProteinModelPortaliQ5TGL8.
SMRiQ5TGL8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 134PXAdd BLAST134

Phylogenomic databases

eggNOGiENOG410IEEQ. Eukaryota.
ENOG411016X. LUCA.
GeneTreeiENSGT00390000009209.
HOGENOMiHOG000063722.
HOVERGENiHBG096286.
InParanoidiQ5TGL8.
OMAiDCWVNGI.
OrthoDBiEOG091G0P94.
PhylomeDBiQ5TGL8.
TreeFamiTF331154.

Family and domain databases

Gene3Di3.30.1520.10. 1 hit.
InterProiView protein in InterPro
IPR001683. Phox.
PfamiView protein in Pfam
PF00787. PX. 1 hit.
SUPFAMiSSF64268. SSF64268. 1 hit.

Sequencei

Sequence statusi: Complete.

Q5TGL8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASAVFEGTS LVNMFVRGCW VNGIRRLIVS RRGDEEEFFE IRTEWSDRSV 
        60         70         80         90        100
LYLHRSLADL GRLWQRLRDA FPEDRSELAQ GPLRQGLVAI KEAHDIETRL 
       110        120        130        140        150
NEVEKLLKTI ISMPCKYSRS EVVLTFFERS PLDQVLKNDN VHKIQPSFQS 
       160        170        180        190        200
PVKISEIMRS NGFCLANTET IVIDHSIPNG RDQQLGVDPT EHLFENGSEF 
       210        220        230 
PSELEDGDDP AAYVTNLSYY HLVPFETDIW D
Length:231
Mass (Da):26,560
Last modified:November 25, 2008 - v3
Checksum:i22FD56F8F1562CFE
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034643184Q → H2 PublicationsCorresponds to variant dbSNP:rs226959Ensembl.1
Natural variantiVAR_034644189P → Q1 PublicationCorresponds to variant dbSNP:rs17855666Ensembl.1
Natural variantiVAR_035619203E → Q in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs368727869Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK289598 mRNA. Translation: BAF82287.1.
AL832792 mRNA. Translation: CAI46167.1.
AL391422, AL033523 Genomic DNA. Translation: CAI13993.1.
AL033523, AL391422 Genomic DNA. Translation: CAI22540.1.
BC045715 mRNA. Translation: AAH45715.3.
BC056908 mRNA. Translation: AAH56908.1.
CCDSiCCDS4486.1.
RefSeqiNP_899229.2. NM_183373.3.
UniGeneiHs.484500.

Genome annotation databases

EnsembliENST00000380283; ENSP00000369636; ENSG00000168994.
GeneIDi221749.
KEGGihsa:221749.
UCSCiuc003mvt.3. human.

Keywords - Coding sequence diversityi

Polymorphism

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.

Entry informationi

Entry nameiPXDC1_HUMAN
AccessioniPrimary (citable) accession number: Q5TGL8
Secondary accession number(s): A8K0N3, Q6PGP0, Q86XB7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: November 25, 2008
Last modified: June 7, 2017
This is version 95 of the entry and version 3 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 chromosome 6
    Human chromosome 6: 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