O60477 (DBC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Deleted in bladder cancer protein 1

Alternative name(s):
Protein FAM5A

Gene names

Name:	DBC1
Synonyms:	DBCCR1, FAM5A
ORF Names:	IB3089A

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	761 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Inhibits cell proliferation by negative regulation of the G1/S transition. Mediates cell death which is not of the classical apoptotic type and regulates expression of components of the plasminogen pathway. Ref.4 Ref.5 Ref.6
Subcellular location	Cytoplasm Ref.4.
Tissue specificity	Highly expressed in brain. Weakly expressed in heart, lung, skeletal muscle, kidney, thymus, prostate, testis and small intestine. Ref.1
Miscellaneous	DBC1 is silenced by methylation in 50% of bladder cancer cell lines.
Sequence similarities	Belongs to the FAM5 family. Contains 1 MACPF domain.

Ontologies

Keywords
Biological process	Cell cycle Growth arrest
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell cycle arrest Inferred from electronic annotation. Source: UniProtKB-KW cell death Inferred from direct assay Ref.5. Source: UniProtKB
Cellular component	cytoplasm Inferred from direct assay Ref.4. Source: UniProtKB microtubule cytoskeleton Inferred from direct assay. Source: HPA
Molecular function	protein binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O60477-1)

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: O60477-2)

The sequence of this isoform differs from the canonical sequence as follows:
     308-320: DEFKSFMKRLPSN → GRESHSVPLHEWP
     321-761: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: O60477-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-285: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Potential
	Chain	20 – 761	742	Deleted in bladder cancer protein 1		PRO_0000045766
Regions
	Domain	68 – 251	184	MACPF
Amino acid modifications
	Glycosylation	156	1	N-linked (GlcNAc...) Potential
	Glycosylation	433	1	N-linked (GlcNAc...) Potential
	Glycosylation	443	1	N-linked (GlcNAc...) Potential
	Glycosylation	553	1	N-linked (GlcNAc...) Potential
	Glycosylation	599	1	N-linked (GlcNAc...) Potential
	Glycosylation	631	1	N-linked (GlcNAc...) Potential
	Glycosylation	677	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 285	285	Missing in isoform 3.		VSP_017021
	Alternative sequence	308 – 320	13	DEFKS…RLPSN → GRESHSVPLHEWP in isoform 2.		VSP_017022
	Alternative sequence	321 – 761	441	Missing in isoform 2.		VSP_017023
	Natural variant	347	1	S → R Common polymorphism. Ref.4		VAR_029989
	Natural variant	358	1	R → H Common polymorphism. Ref.4 Corresponds to variant rs17476783 [ dbSNP | Ensembl ].		VAR_029990
	Natural variant	437	1	A → T. Ref.1 Ref.4 Corresponds to variant rs1043377 [ dbSNP | Ensembl ].		VAR_024930
	Natural variant	712	1	P → T in a colorectal cancer sample; somatic mutation. Ref.7		VAR_036336

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 24, 2006. Version 2. Checksum: 16FF47082FD52252	FASTA	761	88,760
	10 20 30 40 50 60 MNWRFVELLY FLFIWGRISV QPSHQEPAGT DQHVSKEFDW LISDRGPFHH SRSYLSFVER 70 80 90 100 110 120 HRQGFTTRYK IYREFARWKV RNTAIERRDL VRHPVPLMPE FQRSIRLLGR RPTTQQFIDT 130 140 150 160 170 180 IIKKYGTHLL ISATLGGEEA LTMYMDKSRL DRKSGNATQS VEALHQLASS YFVDRDGTMR 190 200 210 220 230 240 RLHEIQISTG AIKVTETRTG PLGCNSYDNL DSVSSVLLQS TESKLHLQGL QIIFPQYLQE 250 260 270 280 290 300 KFVQSALSYI MCNGEGEYLC QNSQCRCQCA EEFPQCNCPI TDIQIMEYTL ANMAKSWAEA 310 320 330 340 350 360 YKDLENSDEF KSFMKRLPSN HFLTIGSIHQ HWGNDWDLQN RYKLLQSATE AQRQKIQRTA 370 380 390 400 410 420 RKLFGLSVRC RHNPNHQLPR ERTIQQWLAR VQSLLYCNEN GFWGTFLESQ RSCVCHGSTT 430 440 450 460 470 480 LCQRPIPCVI GGNNSCAMCS LANISLCGSC NKGYKLYRGR CEPQNVDSER SEQFISFETD 490 500 510 520 530 540 LDFQDLELKY LLQKMDSRLY VHTTFISNEI RLDTFFDPRW RKRMSLTLKS NKNRMDFIHM 550 560 570 580 590 600 VIGMSMRICQ MRNSSLDPMF FVYVNPFSGS HSEGWNMPFG EFGYPRWEKI RLQNSQCYNW 610 620 630 640 650 660 TLLLGNRWKT FFETVHIYLR SRTRLPTLLR NETGQGPVDL SDPSKRQFYI KISDVQVFGY 670 680 690 700 710 720 SLRFNADLLR SAVQQVNQSY TQGGQFYSSS SVMLLLLDIR DRINRLAPPV APGKPQLDLF 730 740 750 760 SCMLKHRLKL TNSEIIRVNH ALDLYNTEIL KQSDQMTAKL C
	Isoform 2 [UniParc]. Checksum: 216A4CB3D764C5C3	FASTA	320	37,168
	10 20 30 40 50 60 MNWRFVELLY FLFIWGRISV QPSHQEPAGT DQHVSKEFDW LISDRGPFHH SRSYLSFVER 70 80 90 100 110 120 HRQGFTTRYK IYREFARWKV RNTAIERRDL VRHPVPLMPE FQRSIRLLGR RPTTQQFIDT 130 140 150 160 170 180 IIKKYGTHLL ISATLGGEEA LTMYMDKSRL DRKSGNATQS VEALHQLASS YFVDRDGTMR 190 200 210 220 230 240 RLHEIQISTG AIKVTETRTG PLGCNSYDNL DSVSSVLLQS TESKLHLQGL QIIFPQYLQE 250 260 270 280 290 300 KFVQSALSYI MCNGEGEYLC QNSQCRCQCA EEFPQCNCPI TDIQIMEYTL ANMAKSWAEA 310 320 YKDLENSGRE SHSVPLHEWP
	Isoform 3 [UniParc]. Checksum: C27A7EF8373CAA04	FASTA	476	55,671
	10 20 30 40 50 60 MEYTLANMAK SWAEAYKDLE NSDEFKSFMK RLPSNHFLTI GSIHQHWGND WDLQNRYKLL 70 80 90 100 110 120 QSATEAQRQK IQRTARKLFG LSVRCRHNPN HQLPRERTIQ QWLARVQSLL YCNENGFWGT 130 140 150 160 170 180 FLESQRSCVC HGSTTLCQRP IPCVIGGNNS CAMCSLANIS LCGSCNKGYK LYRGRCEPQN 190 200 210 220 230 240 VDSERSEQFI SFETDLDFQD LELKYLLQKM DSRLYVHTTF ISNEIRLDTF FDPRWRKRMS 250 260 270 280 290 300 LTLKSNKNRM DFIHMVIGMS MRICQMRNSS LDPMFFVYVN PFSGSHSEGW NMPFGEFGYP 310 320 330 340 350 360 RWEKIRLQNS QCYNWTLLLG NRWKTFFETV HIYLRSRTRL PTLLRNETGQ GPVDLSDPSK 370 380 390 400 410 420 RQFYIKISDV QVFGYSLRFN ADLLRSAVQQ VNQSYTQGGQ FYSSSSVMLL LLDIRDRINR 430 440 450 460 470 LAPPVAPGKP QLDLFSCMLK HRLKLTNSEI IRVNHALDLY NTEILKQSDQ MTAKLC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure and methylation-based silencing of a gene (DBCCR1) within a candidate bladder cancer tumor suppressor region at 9q32-q33." Habuchi T., Luscombe M., Elder P.A., Knowles M.A. Genomics 48:277-288(1998) [PubMed: 9545632] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-437, TISSUE SPECIFICITY. Tissue: Brain.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORMS 1; 2 AND 3). Tissue: Brain and Kidney.
[4]	"Negative regulation of G(1)/S transition by the candidate bladder tumour suppressor gene DBCCR1." Nishiyama H., Gill J.H., Pitt E., Kennedy W., Knowles M.A. Oncogene 20:2956-2964(2001) [PubMed: 11420708] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS ARG-347; HIS-358 AND THR-437.
[5]	"DBCCR1 mediates death in cultured bladder tumor cells." Wright K.O., Messing E.M., Reeder J.E. Oncogene 23:82-90(2004) [PubMed: 14712213] [Abstract] Cited for: FUNCTION.
[6]	"DBC1 re-expression alters the expression of multiple components of the plasminogen pathway." Louhelainen J.P., Hurst C.D., Pitt E., Nishiyama H., Pickett H.A., Knowles M.A. Oncogene 25:2409-2419(2006) [PubMed: 16369496] [Abstract] Cited for: FUNCTION.
[7]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-712.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF027734 mRNA. Translation: AAC39691.1. AL138894, AL353773 Genomic DNA. Translation: CAH72027.1. AL138894, AL353773 Genomic DNA. Translation: CAH72028.1. AL353773, AL138894 Genomic DNA. Translation: CAI16000.1. AL353773, AL138894 Genomic DNA. Translation: CAI16001.1. BC021560 mRNA. Translation: AAH21560.1. BC065196 mRNA. Translation: AAH65196.1. BC071702 mRNA. Translation: AAH71702.1.
IPI	IPI00005607. IPI00644682. IPI00719605.
PIR	T09052.
RefSeq	NP_055433.2. NM_014618.2.
UniGene	Hs.532316.
3D structure databases
ProteinModelPortal	O60477.
ModBase	Search...
Protein-protein interaction databases
IntAct	O60477. 2 interactions.
STRING	O60477.
Proteomic databases
PRIDE	O60477.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265922; ENSP00000265922; ENSG00000078725. ENST00000373969; ENSP00000363080; ENSG00000078725.
GeneID	1620.
KEGG	hsa:1620.
UCSC	uc004bkc.2. human. uc004bkd.2. human.
Organism-specific databases
CTD	1620.
GeneCards	GC09M121915.
H-InvDB	HIX0034750.
HGNC	HGNC:2687. DBC1.
HPA	HPA038828.
MIM	602865. gene.
neXtProt	NX_O60477.
PharmGKB	PA27156.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16128.
GeneTree	ENSGT00390000008571.
HOGENOM	HBG445938.
HOVERGEN	HBG081412.
InParanoid	O60477.
OMA	LVRHPLP.
OrthoDB	EOG480HW3.
PhylomeDB	O60477.
Gene expression databases
ArrayExpress	O60477.
Bgee	O60477.
CleanEx	HS_DBC1.
Genevestigator	O60477.
GermOnline	ENSG00000078725. Homo sapiens.
Family and domain databases
InterPro	IPR020864. MACPF. [Graphical view]
Pfam	PF01823. MACPF. 1 hit. [Graphical view]
SMART	SM00457. MACPF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	6650.
SOURCE	Search...

Entry information

Entry name

DBC1_HUMAN

Accession

Primary (citable) accession number: O60477
Secondary accession number(s): Q6IPV6, Q6P1A0, Q8WU22

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2006
Last sequence update:	January 24, 2006
Last modified:	January 25, 2012
This is version 78 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.