Reviewed, UniProtKB/Swiss-Prot Q9BUL8 (PDC10_HUMAN)

Names and origin

Protein names

Recommended name:
    Programmed cell death protein 10
Alternative name(s):
    TF-1 cell apoptosis-related protein 15
    Cerebral cavernous malformations 3 protein

Gene names

Name:	PDCD10
Synonyms:	CCM3, TFAR15

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	212 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play a role in apoptotic pathways. Ref.5
Tissue specificity	Ubiquitous. Ref.5
Involvement in disease	Defects in PDCD10 are the cause of cerebral cavernous malformations type 3 (CCM3) [MIM:603285]. Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5% in the general population and usually present clinically during the 3rd to 5th decade of life. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. Ref.5
Sequence similarities	Belongs to the PDCD10 family.

Ontologies

Keywords
Biological process	Apoptosis
Coding sequence diversity	Polymorphism
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Biological process	apoptosis Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CCM2	Q9BSQ5	2	EBI-740195,EBI-1573056
MCC	P23508	1	EBI-740195,EBI-307531
PTPN13	Q12923-4	1	EBI-740195,EBI-355268
STK24	Q5T5B3	1	EBI-740195,EBI-1054809
STK25	O00506	1	EBI-740195,EBI-618295

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 212	212	Programmed cell death protein 10		PRO_0000187562
Natural variations
	Natural variant	102	1	D → A: dbSNP rs1129087. Ref.1		VAR_023578

Sequences

	Sequence		Length	Mass (Da)
	Q9BUL8-1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 5AA613F71FAAEF56	FASTA	212	24,702
	10 20 30 40 50 60 MRMTMEEMKN EAETTSMVSM PLYAVMYPVF NELERVNLSA AQTLRAAFIK AEKENPGLTQ 70 80 90 100 110 120 DIIMKILEKK SVEVNFTESL LRMAADDVEE YMIERPEPEF QDLNEKARAL KQILSKIPDE 130 140 150 160 170 180 INDRVRFLQT IKDIASAIKE LLDTVNNVFK KYQYQNRRAL EHQKKEFVKY SKSFSDTLKT 190 200 210 YFKDGKAINV FVSANRLIHQ TNLILQTFKT VA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"cDNA cloning and expression of an apoptosis-related gene, human TFAR-15 gene." Wang Y.G., Liu H.T., Ma D.L., Zhang Y.M. Sci. China, Ser. C, Life Sci. 42:323-329(1999) Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-102.
[2]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skin and Urinary bladder.
[4]	Bienvenut W.V., Claeys D. Submitted (NOV-2005) to UniProtKB Cited for: PROTEIN SEQUENCE OF 36-45 AND 117-124, MASS SPECTROMETRY. Tissue: Platelet.
[5]	"Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations." Bergametti F., Denier C., Labauge P., Arnoult M., Boetto S., Clanet M., Coubes P., Echenne B., Ibrahim R., Irthum B., Jacquet G., Lonjon M., Moreau J.J., Neau J.P., Parker F., Tremoulet M., Tournier-Lasserve E. Am. J. Hum. Genet. 76:42-51(2005) [PubMed: 15543491] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN CCM3.
[6]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF022385 mRNA. Translation: AAB72225.1. CR457107 mRNA. Translation: CAG33388.1. BC002506 mRNA. Translation: AAH02506.1. BC016353 mRNA. Translation: AAH16353.1.
IPI	IPI00298558.
RefSeq	NP_009148.2. NP_665858.1. NP_665859.1.
UniGene	Hs.478150 Hs.478153
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BUL8. 8 interactions.
2-D gel databases
OGP	Q9BUL8.
Proteomic databases
PRIDE	Q9BUL8.
Genome annotation databases
Ensembl	ENSG00000114209. Homo sapiens. [Contig view]
GeneID	11235.
KEGG	hsa:11235.
UCSC	uc003fex.1. human.
Organism-specific databases
GeneCards	GC03M168884.
HGNC	HGNC:8761. PDCD10.
MIM	603285. phenotype. 609118. gene.
Orphanet	164. Cerebral cavernous malformations.
PharmGKB	PA33111.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9BUL8.
HOVERGEN	Q9BUL8.
OMA	Q9BUL8. AERENPG.
Gene expression databases
ArrayExpress	Q9BUL8.
Bgee	Q9BUL8.
CleanEx	HS_PDCD10.
GermOnline	ENSG00000114209. Homo sapiens.
Family and domain databases
InterPro	IPR009652. DUF1241. [Graphical view]
PANTHER	PTHR13250. DUF1241. 1 hit.
Pfam	PF06840. DUF1241. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	42758.
SOURCE	Search...

Entry information

Entry name

PDC10_HUMAN

Accession

Primary (citable) accession number: Q9BUL8
Secondary accession number(s): O14811

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 11, 2005
Last sequence update:	June 1, 2001
Last modified:	July 7, 2009
This is version 57 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)