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Q8IV76 (PASD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
PAS domain-containing protein 1
Alternative name(s):
Cancer/testis antigen 63
Short name=CT63
OX-TES-1
Gene names
Name:PASD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length773 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May function as a transcription factor. Ref.1

Subcellular location

Nucleus Probable.

Tissue specificity

Testis-specific. Found in histologically normal tissues from patients with uterus, lung and small intestine cancers. Widespread expression seen in solid tumors and diffuse large B-cell lymphoma (DLBCL)-derived cell lines. Isoform 2 is expressed in all DLBCL-derived cell lines, while isoform 1 is preferentially expressed in cell lines derived from non-germinal center DLBCL. Ref.1

Sequence similarities

Contains 1 PAS (PER-ARNT-SIM) domain.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentnucleus

Inferred from direct assay. Source: LIFEdb

   Molecular_functionsignal transducer activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IV76-1)

Also known as: PASD1_v2;

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.
Isoform 2 (identifier: Q8IV76-2)

Also known as: PASD1_v1;

The sequence of this isoform differs from the canonical sequence as follows:
     639-639: S → R
     640-773: Missing.
Note: Due to intron retention.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 773773PAS domain-containing protein 1
PRO_0000299445

Regions

Domain30 – 10273PAS
Coiled coil365 – 41248 Potential
Compositional bias229 – 2368Poly-Ala
Compositional bias508 – 54841Lys-rich
Compositional bias665 – 6684Poly-Ser

Natural variations

Alternative sequence6391S → R in isoform 2.
VSP_027663
Alternative sequence640 – 773134Missing in isoform 2.
VSP_027664
Natural variant2131Q → E.
Corresponds to variant rs5924658 [ dbSNP | Ensembl ].
VAR_034819

Experimental info

Sequence conflict1071E → K in BAC05097. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (PASD1_v2) [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 04DF5C10980CEE6F

FASTA77387,428
        10         20         30         40         50         60 
MKMRGEKRRD KVNPKSSQRK LNWIPSFPTY DYFNQVTLQL LDGFMITLST DGVIICVAEN 

        70         80         90        100        110        120 
ISSLLGHLPA EIVGKKLLSL LPDEEKDEVY QKIILKFPLL NSETHIEFCC HLKRGNVEHG 

       130        140        150        160        170        180 
DSSAYENVKF IVNVRDICNE FPVVFSGLFS SHLCADFAAC VPQEDRLYLV GNVCILRTQL 

       190        200        210        220        230        240 
LQQLYTSKAV SDEAVLTQDS DEEPFVGELS SSQGQRGHTS MKAVYVEPAA AAAAAAISDD 

       250        260        270        280        290        300 
QIDIAEVEQY GPQENVHMFV DSDSTYCSST VFLDTMPESP ALSLQDFRGE PEVNPLYRAD 

       310        320        330        340        350        360 
PVDLEFSVDQ VDSVDQEGPM DQQDPENPVA PLDQAGLMDP VDPEDSVDLG AAGASAQPLQ 

       370        380        390        400        410        420 
PSSPVAYDII SQELELMKKL KEQLEERTWL LHDAIQNQQN ALELMMDHLQ KQPNTLRHVV 

       430        440        450        460        470        480 
IPDLQSSEAV PKKQQKQHAG QVKRPLPHPK DVKCFCGLSL SNSLKNTGEL QEPCVAFNQQ 

       490        500        510        520        530        540 
QLVQQEQHLK EQQRQLREQL QQLREQRKVQ KQKKMQEKKK LQEQKMQEKK KLQEQRRQKK 

       550        560        570        580        590        600 
KKLQERKKWQ GQMLQKEPEE EQQKQQLQEQ PLKHNVIVGN ERVQICLQNP RDVSVPLCNH 

       610        620        630        640        650        660 
PVRFLQAQPI VPVQRAAEQQ PSGFYQDENC GQQEDESQSF YPEAYQGPPV NQLPLIDTSN 

       670        680        690        700        710        720 
SEAISSSSIP QFPITSDSTI STLETPQDYI RLWQELSDSL GPVVQVNTWS CDEQGTLHGQ 

       730        740        750        760        770 
PTYHQVQVSE VGVEGPPDPQ AFQGPAAYQP DQMRSAEQTR LMPAEQRDSN KPC 

« Hide

Isoform 2 (PASD1_v1) [UniParc].

Checksum: C787023A7F894705
Show »

FASTA63972,738

References

« Hide 'large scale' references
[1]"A novel diffuse large B-cell lymphoma-associated cancer testis antigen encoding a PAS domain protein."
Liggins A.P., Brown P.J., Asker K., Pulford K., Banham A.H.
Br. J. Cancer 91:141-149(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, TISSUE SPECIFICITY.
[2]"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. expand/collapse author list , 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] (ISOFORM 1).
Tissue: Testis.
[3]"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] (ISOFORM 1).
Tissue: Testis.
[4]"Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia."
Guinn B.-A., Bland E.A., Lodi U., Liggins A.P., Tobal K., Petters S., Wells J.W., Banham A.H., Mufti G.J.
Biochem. Biophys. Res. Commun. 335:1293-1304(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 469-773 (ISOFORM 1).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY270020 mRNA. Translation: AAQ01136.1.
AK097552 mRNA. Translation: BAC05097.1.
BC040301 mRNA. Translation: AAH40301.1.
AY623425 mRNA. Translation: AAT49049.1.
CCDSCCDS35431.1. [Q8IV76-1]
RefSeqNP_775764.2. NM_173493.2. [Q8IV76-1]
UniGeneHs.160594.

3D structure databases

ProteinModelPortalQ8IV76.
SMRQ8IV76. Positions 16-137.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126545. 2 interactions.
MINTMINT-4719893.
STRING9606.ENSP00000359382.

PTM databases

PhosphoSiteQ8IV76.

Polymorphism databases

DMDM74728046.

Proteomic databases

PaxDbQ8IV76.
PRIDEQ8IV76.

Protocols and materials databases

DNASU139135.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370357; ENSP00000359382; ENSG00000166049. [Q8IV76-1]
GeneID139135.
KEGGhsa:139135.
UCSCuc004fev.4. human. [Q8IV76-1]

Organism-specific databases

CTD139135.
GeneCardsGC0XP150732.
H-InvDBHIX0022029.
HGNCHGNC:20686. PASD1.
HPAHPA011122.
HPA011152.
neXtProtNX_Q8IV76.
PharmGKBPA134909788.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG147281.
HOGENOMHOG000115455.
InParanoidQ8IV76.
OMALETPQDY.
OrthoDBEOG7BCNB5.
PhylomeDBQ8IV76.
TreeFamTF324568.

Gene expression databases

BgeeQ8IV76.
CleanExHS_PASD1.
GenevestigatorQ8IV76.

Family and domain databases

InterProIPR000014. PAS.
[Graphical view]
SMARTSM00091. PAS. 1 hit.
[Graphical view]
SUPFAMSSF55785. SSF55785. 1 hit.
PROSITEPS50112. PAS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPASD1.
GenomeRNAi139135.
NextBio83900.
PROQ8IV76.

Entry information

Entry namePASD1_HUMAN
AccessionPrimary (citable) accession number: Q8IV76
Secondary accession number(s): Q3MNE0, Q69HD7, Q8N7X9
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 87 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM