Q9UHP6 (RTDR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Rhabdoid tumor deletion region protein 1

Gene names

Name:

RTDR1

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

General annotation (Comments)

Tissue specificity

Expressed in adult cerebellum, spinal cord, spleen, skeletal muscle and some/5 out of 9 rhabdoid tumors. Detected in fetal brain, lung, liver and kidney.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 348	348	Rhabdoid tumor deletion region protein 1		PRO_0000097511
Regions
	Compositional bias	161 – 166	6	Poly-Glu
Natural variations
	Natural variant	42	1	T → M. Ref.1 Corresponds to variant rs35211242 [ dbSNP | Ensembl ].		VAR_015443

Sequences

	Sequence		Length	Mass (Da)
	Q9UHP6 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: FAED74B2479179A0	FASTA	348	38,592
	10 20 30 40 50 60 MAHSQNSLEL PININATQIT TAYGHRALPK LKEELQSEDL QTRQKALMAL CDLMHDPECI 70 80 90 100 110 120 YKAMNIGCME NLKALLKDSN SMVRIKTTEV LHITASHSVG RYAFLEHDIV LALSFLLNDP 130 140 150 160 170 180 SPVCRGNLYK AYMQLVQVPR GAQEIISKGL ISSLVWKLQV EVEEEEFQEF ILDTLVLCLQ 190 200 210 220 230 240 EDATEALGSN VVLVLKQKLL SANQNIRSKA ARALLNVSIS REGKKQVCHF DVIPILVHLL 250 260 270 280 290 300 KDPVEHVKSN AAGALMFATV ITEGKYAALE AQAIGLLLEL LHSPMTIARL NATKALTMLA 310 320 330 340 EAPEGRKALQ THVPTFRAME VETYEKPQVA EALQRAARIA ISVIEFKP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2." Zhou J.-Y., Fogelgren B., Wang Z., Roe B.A., Biegel J.A. Gene 241:133-141(2000) [PubMed: 10607907] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT MET-42.
[2]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] 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: Lymph.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF133587 mRNA. Translation: AAF02484.1. CR456567 mRNA. Translation: CAG30453.1. BC008986 mRNA. Translation: AAH08986.1.
IPI	IPI00004368.
RefSeq	NP_055248.1. NM_014433.2.
UniGene	Hs.526920.
3D structure databases
ProteinModelPortal	Q9UHP6.
SMR	Q9UHP6. Positions 27-98, 150-345.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UHP6. 1 interaction.
MINT	MINT-1440635.
STRING	Q9UHP6.
Polymorphism databases
DMDM	29337004.
Proteomic databases
PRIDE	Q9UHP6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000216036; ENSP00000216036; ENSG00000100218. ENST00000452308; ENSP00000415868; ENSG00000100218.
GeneID	27156.
KEGG	hsa:27156.
UCSC	uc002zwt.1. human.
Organism-specific databases
CTD	27156.
GeneCards	GC22M023401.
H-InvDB	HIX0016293.
HGNC	HGNC:13437. RTDR1.
HPA	HPA018420.
MIM	605663. gene.
neXtProt	NX_Q9UHP6.
PharmGKB	PA34878.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16616.
GeneTree	ENSGT00500000044989.
HOGENOM	HBG278189.
HOVERGEN	HBG076388.
InParanoid	Q9UHP6.
OMA	ATKALTM.
OrthoDB	EOG4WM4VH.
PhylomeDB	Q9UHP6.
Gene expression databases
ArrayExpress	Q9UHP6.
Bgee	Q9UHP6.
CleanEx	HS_RTDR1.
Genevestigator	Q9UHP6.
GermOnline	ENSG00000100218. Homo sapiens.
Family and domain databases
InterPro	IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR000225. Armadillo. [Graphical view]
Gene3D	G3DSA:1.25.10.10. ARM-like. 1 hit.
Pfam	PF00514. Arm. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
ProtoNet	Search...
Other
NextBio	49927.
SOURCE	Search...

Entry information

Entry name

RTDR1_HUMAN

Accession

Primary (citable) accession number: Q9UHP6

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 25, 2003
Last sequence update:	May 1, 2000
Last modified:	January 25, 2012
This is version 74 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.