Q96CT2 (KLH29_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kelch-like protein 29

Alternative name(s):
Kelch repeat and BTB domain-containing protein 9

Gene names

Name:	KLHL29
Synonyms:	KBTBD9, KIAA1921

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

General annotation (Comments)

Sequence similarities	Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats.
Caution	Although the complete sequence is not known with certainty, sequence shown here appears to be the most probable in accordance with the mouse sequence ortholog.
Sequence caution	The sequence AAH13982.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH15667.1 differs from that shown. Reason: Erroneous initiation. The sequence CAD39171.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
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: Q96CT2-1)

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: Q96CT2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     483-655: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 655	655	Kelch-like protein 29		PRO_0000119086
Regions
	Domain	109 – 181	73	BTB
	Repeat	365 – 415	51	Kelch 1
	Repeat	417 – 463	47	Kelch 2
	Repeat	464 – 510	47	Kelch 3
	Repeat	512 – 558	47	Kelch 4
	Repeat	559 – 601	43	Kelch 5
	Repeat	602 – 650	49	Kelch 6
	Compositional bias	40 – 65	26	Pro-rich
Natural variations
	Alternative sequence	483 – 655	173	Missing in isoform 2.		VSP_010403
Experimental info
	Sequence conflict	92	1	P → R in CAD39171. Ref.1
	Sequence conflict	111 – 139	29	LKIVV…KDLIQ → PRCAGRSSPVRKRHGGRRAG GKDTLVSVP Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 24, 2004. Version 2. Checksum: 64325D0DE5B9AA9C	FASTA	655	71,468
	10 20 30 40 50 60 MPAQALYASP QPLAVSTLPG VGQVARPGPT AVGNGHMAGP LLPPPPPAQP SATLPSGAPA 70 80 90 100 110 120 TNGPPTTDSA HGLQMLRTIG VGKYEFTDPG HPREMLKELN QQRRAKAFTD LKIVVEGREF 130 140 150 160 170 180 EVHQNVLASC SLYFKDLIQR SVQDSGQGGR EKLELVLSNL QADVLELLLE FVYTGSLVID 190 200 210 220 230 240 SANAKTLLEA ASKFQFHTFC KVCVSFLEKQ LTASNCLGVL AMAEAMQCSE LYHMAKAFAL 250 260 270 280 290 300 QIFPEVAAQE EILSISKDDF IAYVSNDSLN TKAEELVYET VIKWIKKDPA TRTQYAAELL 310 320 330 340 350 360 AVVRLPFIHP SYLLNVVDNE ELIKSSEACR DLVNEAKRYH MLPHARQEMQ TPRTRPRLSA 370 380 390 400 410 420 GVAEVIVLVG GRQMVGMTQR SLVAVTCWNP QNNKWYPLAS LPFYDREFFS VVSAGDNIYL 430 440 450 460 470 480 SGGMESGVTL ADVWCYMSLL DNWNLVSRMT VPRCRHNSLV YDGKIYTLGG LGVAGNVDHV 490 500 510 520 530 540 ERYDTITNQW EAVAPLPKAV HSAAATVCGG KIYVFGGVNE AGRAAGVLQS YVPQTNTWSF 550 560 570 580 590 600 IESPMIDNKY APAVTLNGFV FILGGAYARA TTIYDPEKGN IKAGPNMNHS RQFCSAVVLD 610 620 630 640 650 GKIYATGGIV SSEGPALGNM EAYEPTTNTW TLLPHMPCPV FRHGCVVIKK YIQSG
	Isoform 2 [UniParc]. Checksum: EBA6F79270AC11DF	FASTA	482	52,998
	10 20 30 40 50 60 MPAQALYASP QPLAVSTLPG VGQVARPGPT AVGNGHMAGP LLPPPPPAQP SATLPSGAPA 70 80 90 100 110 120 TNGPPTTDSA HGLQMLRTIG VGKYEFTDPG HPREMLKELN QQRRAKAFTD LKIVVEGREF 130 140 150 160 170 180 EVHQNVLASC SLYFKDLIQR SVQDSGQGGR EKLELVLSNL QADVLELLLE FVYTGSLVID 190 200 210 220 230 240 SANAKTLLEA ASKFQFHTFC KVCVSFLEKQ LTASNCLGVL AMAEAMQCSE LYHMAKAFAL 250 260 270 280 290 300 QIFPEVAAQE EILSISKDDF IAYVSNDSLN TKAEELVYET VIKWIKKDPA TRTQYAAELL 310 320 330 340 350 360 AVVRLPFIHP SYLLNVVDNE ELIKSSEACR DLVNEAKRYH MLPHARQEMQ TPRTRPRLSA 370 380 390 400 410 420 GVAEVIVLVG GRQMVGMTQR SLVAVTCWNP QNNKWYPLAS LPFYDREFFS VVSAGDNIYL 430 440 450 460 470 480 SGGMESGVTL ADVWCYMSLL DNWNLVSRMT VPRCRHNSLV YDGKIYTLGG LGVAGNVDHV ER

References

[1]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Melanoma.
[2]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Placenta.
[3]	"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 111-655 (ISOFORM 1). Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL834515 mRNA. Translation: CAD39171.2. Different initiation. BC013982 mRNA. Translation: AAH13982.1. Different initiation. BC015667 mRNA. Translation: AAH15667.1. Different initiation. AB067508 mRNA. Translation: BAB67814.1.
IPI	IPI00060624. IPI00888984.
RefSeq	NP_443152.1. NM_052920.1.
UniGene	Hs.130593.
3D structure databases
ProteinModelPortal	Q96CT2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96CT2. 1 interaction.
Polymorphism databases
DMDM	47605917.
Proteomic databases
PaxDb	Q96CT2.
PRIDE	Q96CT2.
Protocols and materials databases
DNASU	114818.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000486442; ENSP00000420659; ENSG00000119771.
GeneID	114818.
KEGG	hsa:114818.
UCSC	uc002reg.3. human.
Organism-specific databases
CTD	114818.
GeneCards	GC02P023608.
H-InvDB	HIX0001864.
HGNC	HGNC:29404. KLHL29.
HPA	HPA049057.
neXtProt	NX_Q96CT2.
PharmGKB	PA162393486.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG313336.
HOGENOM	HOG000230815.
HOVERGEN	HBG096078.
InParanoid	Q96CT2.
KO	K10465.
OrthoDB	EOG4ZW59Q.
Gene expression databases
ArrayExpress	Q96CT2.
Bgee	Q96CT2.
CleanEx	HS_KLHL29.
Genevestigator	Q96CT2.
GermOnline	ENSG00000119771. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.80. 1 hit. 3.30.710.10. 1 hit.
InterPro	IPR011705. BACK. IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR015916. Gal_Oxidase_b-propeller. IPR017096. Kelch-like_gigaxonin. IPR006652. Kelch_1. [Graphical view]
Pfam	PF07707. BACK. 1 hit. PF00651. BTB. 1 hit. PF01344. Kelch_1. 2 hits. [Graphical view]
PIRSF	PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMART	SM00875. BACK. 1 hit. SM00225. BTB. 1 hit. SM00612. Kelch. 6 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	KLHL29. human.
GenomeRNAi	114818.
NextBio	79284.

Entry information

Entry name

KLH29_HUMAN

Accession

Primary (citable) accession number: Q96CT2
Secondary accession number(s): Q8N388, Q96BF0, Q96PW7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 24, 2004
Last sequence update:	May 24, 2004
Last modified:	May 1, 2013
This is version 88 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.