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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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21361. PXDC1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134944183.

Polymorphism and mutation databases

BioMutaiPXDC1.
DMDMi215274177.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 231231PX domain-containing protein 1PRO_0000297573Add
BLAST

Proteomic databases

EPDiQ5TGL8.
MaxQBiQ5TGL8.
PaxDbiQ5TGL8.
PRIDEiQ5TGL8.
TopDownProteomicsiQ5TGL8.

PTM databases

iPTMnetiQ5TGL8.
PhosphoSiteiQ5TGL8.

Expressioni

Gene expression databases

BgeeiQ5TGL8.
CleanExiHS_C6orf145.
ExpressionAtlasiQ5TGL8. baseline and differential.
GenevisibleiQ5TGL8. HS.

Organism-specific databases

HPAiHPA014574.

Interactioni

Protein-protein interaction databases

BioGridi128751. 4 interactions.
IntActiQ5TGL8. 2 interactions.
STRINGi9606.ENSP00000369636.

Structurei

3D structure databases

ProteinModelPortaliQ5TGL8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 134134PXAdd
BLAST

Sequence similaritiesi

Contains 1 PX (phox homology) domain.Curated

Phylogenomic databases

eggNOGiENOG410IEEQ. Eukaryota.
ENOG411016X. LUCA.
GeneTreeiENSGT00390000009209.
HOGENOMiHOG000063722.
HOVERGENiHBG096286.
InParanoidiQ5TGL8.
OMAiIQPCFQS.
PhylomeDBiQ5TGL8.
TreeFamiTF331154.

Family and domain databases

Gene3Di3.30.1520.10. 1 hit.
InterProiIPR001683. Phox.
[Graphical view]
PfamiPF00787. PX. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti184 – 1841Q → H.2 Publications
Corresponds to variant rs226959 [ dbSNP | Ensembl ].
VAR_034643
Natural varianti189 – 1891P → Q.1 Publication
Corresponds to variant rs17855666 [ dbSNP | Ensembl ].
VAR_034644
Natural varianti203 – 2031E → Q in a breast cancer sample; somatic mutation. 1 Publication
VAR_035619

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ5TGL8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128751. 4 interactions.
IntActiQ5TGL8. 2 interactions.
STRINGi9606.ENSP00000369636.

PTM databases

iPTMnetiQ5TGL8.
PhosphoSiteiQ5TGL8.

Polymorphism and mutation databases

BioMutaiPXDC1.
DMDMi215274177.

Proteomic databases

EPDiQ5TGL8.
MaxQBiQ5TGL8.
PaxDbiQ5TGL8.
PRIDEiQ5TGL8.
TopDownProteomicsiQ5TGL8.

Protocols and materials databases

DNASUi221749.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi221749.
GeneCardsiPXDC1.
H-InvDBHIX0005545.
HIX0122211.
HGNCiHGNC:21361. PXDC1.
HPAiHPA014574.
neXtProtiNX_Q5TGL8.
PharmGKBiPA134944183.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEEQ. Eukaryota.
ENOG411016X. LUCA.
GeneTreeiENSGT00390000009209.
HOGENOMiHOG000063722.
HOVERGENiHBG096286.
InParanoidiQ5TGL8.
OMAiIQPCFQS.
PhylomeDBiQ5TGL8.
TreeFamiTF331154.

Miscellaneous databases

GenomeRNAii221749.
NextBioi91436.
PROiQ5TGL8.

Gene expression databases

BgeeiQ5TGL8.
CleanExiHS_C6orf145.
ExpressionAtlasiQ5TGL8. baseline and differential.
GenevisibleiQ5TGL8. HS.

Family and domain databases

Gene3Di3.30.1520.10. 1 hit.
InterProiIPR001683. Phox.
[Graphical view]
PfamiPF00787. PX. 1 hit.
[Graphical view]
SUPFAMiSSF64268. SSF64268. 1 hit.
ProtoNetiSearch...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain cortex.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT HIS-184.
    Tissue: Lymph node.
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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], VARIANTS HIS-184 AND GLN-189.
    Tissue: Brain and Skin.
  5. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-203.

Entry informationi

Entry nameiPXDC1_HUMAN
AccessioniPrimary (citable) accession number: Q5TGL8
Secondary accession number(s): A8K0N3, Q6PGP0, Q86XB7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: November 25, 2008
Last modified: March 16, 2016
This is version 87 of the entry and version 3 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 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
  4. SIMILARITY comments
    Index of protein domains and families

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.