Q8NEP7 (KLDC9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kelch domain-containing protein 9

Alternative name(s):
Kelch/ankyrin repeat-containing cyclin A1-interacting protein

Gene names

Name:	KLHDC9
Synonyms:	KARCA1

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	349 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Interacts with CCNA1. Ref.1
Sequence similarities	Contains 3 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 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NEP7-1)

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: Q8NEP7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     230-288: EEPPVAPHLM...LTRARDTICN → SFLSPQGGTT...AVWWRNSDQS
     289-349: Missing.

Isoform 3 (identifier: Q8NEP7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     176-263: CYKQEGCHTA...KGPHGLRHHS → WYGTLRPKPF...LTFSRKPTQP
     264-349: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 349	349	Kelch domain-containing protein 9		PRO_0000300464
Regions
	Repeat	39 – 89	51	Kelch 1
	Repeat	91 – 137	47	Kelch 2
	Repeat	325 – 349	25	Kelch 3
Natural variations
	Alternative sequence	176 – 263	88	CYKQE…LRHHS → WYGTLRPKPFTLIHTLEKQK PKQISQAIYPPPHSSTLLPG EPTMFKLAELSTVLPSLLSH LPHCPMPLLHPSLARAVALT FSRKPTQP in isoform 3.		VSP_027807
	Alternative sequence	230 – 288	59	EEPPV…DTICN → SFLSPQGGTTCCSSFDGTAC KACEQWAGVPEGAPWTTASL MFCGRALCCAVWWRNSDQS in isoform 2.		VSP_027808
	Alternative sequence	264 – 349	86	Missing in isoform 3.		VSP_027809
	Alternative sequence	289 – 349	61	Missing in isoform 2.		VSP_027810
	Natural variant	171	1	S → R. Corresponds to variant rs11576830 [ dbSNP | Ensembl ].		VAR_034873
	Natural variant	282	1	A → T. Ref.5 Corresponds to variant rs1128750 [ dbSNP | Ensembl ].		VAR_050056
	Natural variant	288	1	N → S. Corresponds to variant rs1128750 [ dbSNP | Ensembl ].		VAR_034874
Experimental info
	Sequence conflict	83	1	D → G in BAC04114. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 4, 2005. Version 2. Checksum: 034F41898BDE0BBB	FASTA	349	37,754
	10 20 30 40 50 60 MAVAVPPGRA AGSGWAWRPV ARDALLARAF HSCTELRGRF YLVGGLLAGG AREPSSDTVV 70 80 90 100 110 120 FDPARGQAVR LGARGSPPRS HHDAAPVDGR WLCVVGGWDG SRRLATVTAL DTERGVWEAW 130 140 150 160 170 180 TGTPGDCPPA GLSSHTCTRI SDRELQVAGR EGGIHTQRRY GSIYTLRLDP SARTYCYKQE 190 200 210 220 230 240 GCHTASRSGH CAALLQTPGP HPGHQLLLFG GCNLAEPEVA GHWSHGKIKE EPPVAPHLME 250 260 270 280 290 300 QLARLVSSGQ GSQKGPHGLR HHSCSVVGPF AVLFGGETLT RARDTICNDL YIYDTRTSPP 310 320 330 340 LWFHFPCADR GMKRMGHRTC LWNDQLYLVG GFGEDGRTAS PQVCILDFI
	Isoform 2 [UniParc]. Checksum: F3D681F077396E10	FASTA	288	30,682
	10 20 30 40 50 60 MAVAVPPGRA AGSGWAWRPV ARDALLARAF HSCTELRGRF YLVGGLLAGG AREPSSDTVV 70 80 90 100 110 120 FDPARGQAVR LGARGSPPRS HHDAAPVDGR WLCVVGGWDG SRRLATVTAL DTERGVWEAW 130 140 150 160 170 180 TGTPGDCPPA GLSSHTCTRI SDRELQVAGR EGGIHTQRRY GSIYTLRLDP SARTYCYKQE 190 200 210 220 230 240 GCHTASRSGH CAALLQTPGP HPGHQLLLFG GCNLAEPEVA GHWSHGKIKS FLSPQGGTTC 250 260 270 280 CSSFDGTACK ACEQWAGVPE GAPWTTASLM FCGRALCCAV WWRNSDQS
	Isoform 3 [UniParc]. Checksum: 1788E87659EF9F18	FASTA	263	28,527
	10 20 30 40 50 60 MAVAVPPGRA AGSGWAWRPV ARDALLARAF HSCTELRGRF YLVGGLLAGG AREPSSDTVV 70 80 90 100 110 120 FDPARGQAVR LGARGSPPRS HHDAAPVDGR WLCVVGGWDG SRRLATVTAL DTERGVWEAW 130 140 150 160 170 180 TGTPGDCPPA GLSSHTCTRI SDRELQVAGR EGGIHTQRRY GSIYTLRLDP SARTYWYGTL 190 200 210 220 230 240 RPKPFTLIHT LEKQKPKQIS QAIYPPPHSS TLLPGEPTMF KLAELSTVLP SLLSHLPHCP 250 260 MPLLHPSLAR AVALTFSRKP TQP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of interaction partners and substrates of the cyclin A1-CDK2 complex." Diederichs S., Baeumer N., Ji P., Metzelder S.K., Idos G.E., Cauvet T., Wang W., Moeller M., Pierschalski S., Gromoll J., Schrader M.G., Koeffler H.P., Berdel W.E., Serve H., Mueller-Tidow C. J. Biol. Chem. 279:33727-33741(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INTERACTION WITH CCNA1.
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Testis.
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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 3), VARIANT THR-282. Tissue: Pancreas and Testis.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY601914 mRNA. Translation: AAT09158.1. AK093268 mRNA. Translation: BAC04114.1. AL591806 Genomic DNA. Translation: CAI15377.1. CH471121 Genomic DNA. Translation: EAW52659.1. CH471121 Genomic DNA. Translation: EAW52662.1. BC022077 mRNA. Translation: AAH22077.2. BC032482 mRNA. Translation: AAH32482.1. BC066896 mRNA. Translation: AAH66896.1.
IPI	IPI00166846. IPI00449308. IPI00479556.
RefSeq	NP_001007256.1. NM_001007255.2. NP_689579.3. NM_152366.4.
UniGene	Hs.507290.
3D structure databases
ProteinModelPortal	Q8NEP7.
SMR	Q8NEP7. Positions 16-194, 287-332.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000356990.
PTM databases
PhosphoSite	Q8NEP7.
Polymorphism databases
DMDM	74751256.
Proteomic databases
PaxDb	Q8NEP7.
PRIDE	Q8NEP7.
Protocols and materials databases
DNASU	126823.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000368011; ENSP00000356990; ENSG00000162755. ENST00000392192; ENSP00000376030; ENSG00000162755.
GeneID	126823.
KEGG	hsa:126823.
UCSC	uc001fxr.3. human. uc001fxs.3. human. uc021pbu.1. human.
Organism-specific databases
CTD	126823.
GeneCards	GC01P161068.
HGNC	HGNC:28489. KLHDC9.
HPA	HPA032058.
neXtProt	NX_Q8NEP7.
PharmGKB	PA162393459.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG268714.
HOGENOM	HOG000113234.
HOVERGEN	HBG101178.
InParanoid	Q8NEP7.
OMA	PSLWFHF.
Gene expression databases
ArrayExpress	Q8NEP7.
Bgee	Q8NEP7.
CleanEx	HS_KLHDC9.
Genevestigator	Q8NEP7.
Family and domain databases
Gene3D	2.120.10.80. 2 hits.
InterPro	IPR011043. Gal_Oxase/kelch_b-propeller. IPR015915. Kelch-typ_b-propeller. [Graphical view]
SUPFAM	SSF50965. Gal_oxid_central. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	126823.
NextBio	81931.

Entry information

Entry name

KLDC9_HUMAN

Accession

Primary (citable) accession number: Q8NEP7
Secondary accession number(s): Q5SY56 , Q6NXT9, Q6PKN4, Q8N5E1, Q8NA16

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	January 4, 2005
Last modified:	May 1, 2013
This is version 85 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.