Q969H9 (DIRC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Disrupted in renal carcinoma protein 1

Alternative name(s):
Disrupted in renal cancer protein

Gene names

Name:

DIRC1

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	104 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Tissue specificity	Expressed at low steady-state level in adult placenta, testis, ovary, prostate, fetal kidney, spleen and skeletal muscle. Ref.1
Involvement in disease	Note=A chromosomal aberration involving DIRC1 is associated with familial clear cell renal carcinoma. Translocation t(2;3)(q33;q21).

Ontologies

Keywords
Coding sequence diversity	Chromosomal rearrangement Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 104	104	Disrupted in renal carcinoma protein 1		PRO_0000079912
Natural variations
	Natural variant	51	1	S → A. Ref.1		VAR_022549
	Natural variant	92	1	L → S. Corresponds to variant rs58846152 [ dbSNP | Ensembl ].		VAR_061641

Sequences

	Sequence		Length	Mass (Da)
	Q969H9 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: DA009FAA807CB5C0	FASTA	104	11,440
	10 20 30 40 50 60 MPEAHMQPAK LQTSLPTTDH GSKKPVSCYL PPLSNAHPMC IEVQNAQNCS SAAATLEPSI 70 80 90 100 ISDTCFYKPI TKDQLSSRSE LNTVRLKCLN SLRGWKILNQ LSLT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation." Druck T., Podolski J., Byrski T., Wyrwicz L., Zajaczek S., Kata G., Borowka A., Lubinski J., Huebner K. J. Hum. Genet. 46:583-589(2001) [PubMed: 11587072] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY, VARIANT ALA-51, CHROMOSOMAL TRANSLOCATION.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [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].

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY039011 mRNA. Translation: AAK83469.1. AY039013 Genomic DNA. Translation: AAK83468.1. AC079613 Genomic DNA. Translation: AAY15021.1. BC125137 mRNA. Translation: AAI25138.1.
IPI	IPI00056360.
RefSeq	NP_443184.1. NM_052952.2.
UniGene	Hs.470892.
3D structure databases
ProteinModelPortal	Q969H9.
ModBase	Search...
Protein-protein interaction databases
STRING	Q969H9.
Proteomic databases
PRIDE	Q969H9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000308100; ENSP00000307860; ENSG00000174325.
GeneID	116093.
KEGG	hsa:116093.
UCSC	uc002uqi.1. human.
Organism-specific databases
CTD	116093.
GeneCards	GC02M189562.
H-InvDB	HIX0029886.
HGNC	HGNC:15760. DIRC1.
MIM	606423. gene.
neXtProt	NX_Q969H9.
Orphanet	151. Familial renal cell carcinoma.
PharmGKB	PA27340.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000004165.
InParanoid	Q969H9.
OMA	EPSIISD.
OrthoDB	EOG4PG62Z.
Gene expression databases
ArrayExpress	Q969H9.
Bgee	Q969H9.
CleanEx	HS_DIRC1.
Genevestigator	Q969H9.
GermOnline	ENSG00000174325. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	79761.
SOURCE	Search...

Entry information

Entry name

DIRC1_HUMAN

Accession

Primary (citable) accession number: Q969H9
Secondary accession number(s): Q08AK1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 21, 2005
Last sequence update:	December 1, 2001
Last modified:	January 25, 2012
This is version 57 of the entry and version 1 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.