C9JR72 (KBTBD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kelch repeat and BTB domain-containing protein 13

Gene names

Name:

KBTBD13

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	458 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. Ref.3
Pathway	Protein modification; protein ubiquitination.
Subunit structure	Component of the BCR(KBTBD13) E3 ubiquitin ligase complex, at least composed of CUL3 and KBTBD13 and RBX1. Interacts with CUL3. Ref.3
Subcellular location	Cytoplasm Ref.3 Ref.4.
Tissue specificity	Expressed in skeletal muscle. Ref.4
Domain	The BCB domain mediates the interaction with CUL3.
Post-translational modification	Autoubiquitinated.
Involvement in disease	Nemaline myopathy 6 (NEM6) [MIM:609273]: A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities	Contains 1 BTB (POZ) domain. Contains 5 Kelch repeats.

Ontologies

Keywords
Biological process	Ubl conjugation pathway
Cellular component	Cytoplasm
Disease	Disease mutation Nemaline myopathy
Domain	Kelch repeat Repeat
PTM	Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein ubiquitination Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 458	458	Kelch repeat and BTB domain-containing protein 13		PRO_0000393906
Regions
	Domain	7 – 74	68	BTB
	Repeat	159 – 209	51	Kelch 1
	Repeat	210 – 258	49	Kelch 2
	Repeat	259 – 305	47	Kelch 3
	Repeat	307 – 350	44	Kelch 4
	Repeat	352 – 400	49	Kelch 5
Natural variations
	Natural variant	248	1	R → S in NEM6. Ref.4		VAR_064889
	Natural variant	390	1	K → N in NEM6. Ref.4		VAR_064890
	Natural variant	408	1	R → C in NEM6. Ref.4		VAR_064891

Sequences

	Sequence		Length	Mass (Da)
	C9JR72 [UniParc]. Last modified November 3, 2009. Version 1. Checksum: 4FFD143F16171BCD	FASTA	458	49,485
	10 20 30 40 50 60 MARGPQTLVQ VWVGGQLFQA DRALLVEHCG FFRGLFRSGM RETRAAEVRL GVLSAGGFRA 70 80 90 100 110 120 TLQVLRGDRP ALAAEDELLQ AVECAAFLQA PALARFLEHN LTSDNCALLC DAAAAFGLRD 130 140 150 160 170 180 VFHSAALFIC DGERELAAEL ALPEARAYVA ALRPSSYAAV STHTPAPGFL EDASRTLCYL 190 200 210 220 230 240 DEEEDAWRTL AALPLEASTL LAGVATLGNK LYIVGGVRGA SKEVVELGFC YDPDGGTWHE 250 260 270 280 290 300 FPSPHQPRYD TALAGFDGRL YAIGGEFQRT PISSVERYDP AAGCWSFVAD LPQPAAGVPC 310 320 330 340 350 360 AQACGRLFVC LWRPADTTAV VEYAVRTDAW LPVAELRRPQ SYGHCMVAHR DSLYVVRNGP 370 380 390 400 410 420 SDDFLHCAID CLNLATGQWT ALPGQFVNSK GALFTAVVRG DTVYTVNRMF TLLYAIEGGT 430 440 450 WRLLREKAGF PRPGSLQTFL LRLPPGAPGP VTSTTAEL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase." Sambuughin N., Swietnicki W., Techtmann S., Matrosova V., Wallace T., Goldfarb L., Maynard E. Biochem. Biophys. Res. Commun. 421:743-749(2012) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, AUTOUBIQUITINATION, INTERACTION WITH CUL3, SUBCELLULAR LOCATION.
[4]	"Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores." Sambuughin N., Yau K.S., Olive M., Duff R.M., Bayarsaikhan M., Lu S., Gonzalez-Mera L., Sivadorai P., Nowak K.J., Ravenscroft G., Mastaglia F.L., North K.N., Ilkovski B., Kremer H., Lammens M., van Engelen B.G., Fabian V., Lamont P. , Davis M.R., Laing N.G., Goldfarb L.G. Am. J. Hum. Genet. 87:842-847(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NEM6 SER-248; ASN-390 AND CYS-408, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC013553 Genomic DNA. No translation available. CH471082 Genomic DNA. Translation: EAW77711.1.
IPI	IPI00161103.
RefSeq	NP_001094832.1. NM_001101362.2.
UniGene	Hs.586890.
3D structure databases
ProteinModelPortal	C9JR72.
SMR	C9JR72. Positions 138-382.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000388723.
PTM databases
PhosphoSite	C9JR72.
Proteomic databases
PaxDb	C9JR72.
PRIDE	C9JR72.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000432196; ENSP00000388723; ENSG00000234438.
GeneID	390594.
KEGG	hsa:390594.
UCSC	uc010uis.2. human.
Organism-specific databases
CTD	390594.
GeneCards	GC15P065369.
HGNC	HGNC:37227. KBTBD13.
MIM	609273. phenotype. 613727. gene.
neXtProt	NX_C9JR72.
Orphanet	607. Nemaline myopathy.
PharmGKB	PA165479144.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG280568.
HOGENOM	HOG000147850.
OMA	NCALLCD.
OrthoDB	EOG4CG089.
Enzyme and pathway databases
UniPathway	UPA00143.
Gene expression databases
Bgee	C9JR72.
Family and domain databases
Gene3D	2.120.10.80. 1 hit. 3.30.710.10. 1 hit.
InterPro	IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR015915. Kelch-typ_b-propeller. IPR006652. Kelch_1. [Graphical view]
Pfam	PF00651. BTB. 1 hit. PF01344. Kelch_1. 2 hits. [Graphical view]
SMART	SM00225. BTB. 1 hit. SM00612. Kelch. 2 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	390594.
NextBio	103889.
SOURCE	Search...

Entry information

Entry name

KBTBD_HUMAN

Accession

Primary (citable) accession number: C9JR72

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 18, 2010
Last sequence update:	November 3, 2009
Last modified:	May 1, 2013
This is version 31 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.