Q2TBA0 (KBTB5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kelch repeat and BTB domain-containing protein 5

Alternative name(s):
Sarcosynapsin

Gene names

Name:	KBTBD5
Synonyms:	SRYP

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

General annotation (Comments)

Sequence similarities

Contains 1 BACK (BTB/Kelch associated) domain. Contains 1 BTB (POZ) domain. Contains 5 Kelch repeats.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Kelch repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q2TBA0-1)

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: Q2TBA0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     444-604: ESDPLPYVVY...GVLREIAYAA → HRHRADQFCRSVQHHRQQVGTLRGLPTGA
     605-621: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 621	621	Kelch repeat and BTB domain-containing protein 5		PRO_0000274235
Regions
	Domain	33 – 98	66	BTB
	Domain	133 – 239	107	BACK
	Repeat	360 – 412	53	Kelch 1
	Repeat	413 – 462	50	Kelch 2
	Repeat	463 – 510	48	Kelch 3
	Repeat	512 – 557	46	Kelch 4
	Repeat	559 – 613	55	Kelch 5
	Compositional bias	270 – 275	6	Poly-Lys
Natural variations
	Alternative sequence	444 – 604	161	ESDPL…IAYAA → HRHRADQFCRSVQHHRQQVG TLRGLPTGA in isoform 2.		VSP_022681
	Alternative sequence	605 – 621	17	Missing in isoform 2.		VSP_022682
	Natural variant	345	1	N → S. Ref.2 Ref.3 Corresponds to variant rs6805421 [ dbSNP | Ensembl ].		VAR_030214
	Natural variant	617	1	C → R. Ref.3 Corresponds to variant rs123509 [ dbSNP | Ensembl ].		VAR_030215

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 6, 2007. Version 2. Checksum: 53492478F08A5A2D	FASTA	621	69,257
	10 20 30 40 50 60 MALGLEQAEE QRLYQQTLLQ DGLKDMLDHG KFLDCVVRAG EREFPCHRLV LAACSPYFRA 70 80 90 100 110 120 RFLAEPERAG ELHLEEVSPD VVAQVLHYLY TSEIALDEAS VQDLFAAAHR FQIPSIFTIC 130 140 150 160 170 180 VSFLQKRLCL SNCLAVFRLG LLLDCARLAV AARDFICAHF TLVARDADFL GLSADELIAI 190 200 210 220 230 240 ISSDGLNVEK EEAVFEAVMR WAGSGDAEAQ AERQRALPTV FESVRCRLLP RAFLESRVER 250 260 270 280 290 300 HPLVRAQPEL LRKVQMVKDA HEGRITTLRK KKKGKDGAGA KEADKGTSKA KAEEDEEAER 310 320 330 340 350 360 ILPGILNDTL RFGMFLQDLI FMISEEGAVA YDPAANECYC ASLSNQVPKN HVSLVTKENQ 370 380 390 400 410 420 VFVAGGLFYN EDNKEDPMSA YFLQFDHLDS EWLGMPPLPS PRCLFGLGEA LNSIYVVGGR 430 440 450 460 470 480 EIKDGERCLD SVMCYDRLSF KWGESDPLPY VVYGHTVLSH MDLVYVIGGK GSDRKCLNKM 490 500 510 520 530 540 CVYDPKKFEW KELAPMQTAR SLFGATVHDG RIIVAAGVTD TGLTSSAEVY SITDNKWAPF 550 560 570 580 590 600 EAFPQERSSL SLVSLVGTLY AIGGFATLET ESGELVPTEL NDIWRYNEEE KKWEGVLREI 610 620 AYAAGATFLP VRLNVLCLTK M
	Isoform 2 [UniParc]. Checksum: 6A64676A03325797	FASTA	472	52,893
	10 20 30 40 50 60 MALGLEQAEE QRLYQQTLLQ DGLKDMLDHG KFLDCVVRAG EREFPCHRLV LAACSPYFRA 70 80 90 100 110 120 RFLAEPERAG ELHLEEVSPD VVAQVLHYLY TSEIALDEAS VQDLFAAAHR FQIPSIFTIC 130 140 150 160 170 180 VSFLQKRLCL SNCLAVFRLG LLLDCARLAV AARDFICAHF TLVARDADFL GLSADELIAI 190 200 210 220 230 240 ISSDGLNVEK EEAVFEAVMR WAGSGDAEAQ AERQRALPTV FESVRCRLLP RAFLESRVER 250 260 270 280 290 300 HPLVRAQPEL LRKVQMVKDA HEGRITTLRK KKKGKDGAGA KEADKGTSKA KAEEDEEAER 310 320 330 340 350 360 ILPGILNDTL RFGMFLQDLI FMISEEGAVA YDPAANECYC ASLSNQVPKN HVSLVTKENQ 370 380 390 400 410 420 VFVAGGLFYN EDNKEDPMSA YFLQFDHLDS EWLGMPPLPS PRCLFGLGEA LNSIYVVGGR 430 440 450 460 470 EIKDGERCLD SVMCYDRLSF KWGHRHRADQ FCRSVQHHRQ QVGTLRGLPT GA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure, gene organization and expression analysis of human sarcosynapsin." Goudou D., Bitoun M., Rieger F., Perin J.-P., Alliel P.M. Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Heart.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-345. Tissue: Tongue.
[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] (ISOFORM 1), VARIANTS SER-345 AND ARG-617.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY177390 mRNA. Translation: AAO06908.1. AY176040 mRNA. Translation: AAO22141.1. AK056577 mRNA. Translation: BAB71222.1. BC110491 mRNA. Translation: AAI10492.1.
IPI	IPI00288927. IPI00383947.
RefSeq	NP_689606.2. NM_152393.2.
UniGene	Hs.350288.
3D structure databases
ProteinModelPortal	Q2TBA0.
SMR	Q2TBA0. Positions 4-264, 304-621.
ModBase	Search...
Polymorphism databases
DMDM	125950763.
Proteomic databases
PRIDE	Q2TBA0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000287777; ENSP00000287777; ENSG00000157119.
GeneID	131377.
KEGG	hsa:131377.
UCSC	uc003clv.1. human.
Organism-specific databases
CTD	131377.
GeneCards	GC03P042702.
HGNC	HGNC:30372. KBTBD5.
HPA	HPA024463.
neXtProt	NX_Q2TBA0.
PharmGKB	PA134908127.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05973.
GeneTree	ENSGT00600000084116.
HOGENOM	HBG445638.
HOVERGEN	HBG052215.
InParanoid	Q2TBA0.
OMA	PFEAFPQ.
OrthoDB	EOG4T782X.
PhylomeDB	Q2TBA0.
Gene expression databases
ArrayExpress	Q2TBA0.
Bgee	Q2TBA0.
CleanEx	HS_KBTBD5.
Genevestigator	Q2TBA0.
Family and domain databases
InterPro	IPR011705. BACK. IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR017096. Kelch-like_gigaxonin. IPR015915. Kelch-typ_b-propeller. IPR006652. Kelch_1. [Graphical view]
Gene3D	G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit. G3DSA:2.120.10.80. Kelch-typ_b-propeller. 1 hit.
KO	K10473.
Pfam	PF07707. BACK. 1 hit. PF00651. BTB. 1 hit. PF01344. Kelch_1. 3 hits. [Graphical view]
PIRSF	PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMART	SM00875. BACK. 1 hit. SM00225. BTB. 1 hit. SM00612. Kelch. 4 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	82900.

Entry information

Entry name

KBTB5_HUMAN

Accession

Primary (citable) accession number: Q2TBA0
Secondary accession number(s): Q86SI1, Q96MR2

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 6, 2007
Last sequence update:	February 6, 2007
Last modified:	December 14, 2011
This is version 46 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.