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Q8NEP7 (KLDC9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kelch domain-containing protein 9
Alternative name(s):
Kelch/ankyrin repeat-containing cyclin A1-interacting protein
Gene names
Name:KLHDC9
Synonyms:KARCA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length349 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with CCNA1. Ref.1

Sequence similarities

Contains 3 Kelch repeats.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainKelch repeat
Repeat
   Technical termComplete 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 349349Kelch domain-containing protein 9
PRO_0000300464

Regions

Repeat39 – 8951Kelch 1
Repeat91 – 13747Kelch 2
Repeat325 – 34925Kelch 3

Natural variations

Alternative sequence176 – 26388CYKQE…LRHHS → WYGTLRPKPFTLIHTLEKQK PKQISQAIYPPPHSSTLLPG EPTMFKLAELSTVLPSLLSH LPHCPMPLLHPSLARAVALT FSRKPTQP in isoform 3.
VSP_027807
Alternative sequence230 – 28859EEPPV…DTICN → SFLSPQGGTTCCSSFDGTAC KACEQWAGVPEGAPWTTASL MFCGRALCCAVWWRNSDQS in isoform 2.
VSP_027808
Alternative sequence264 – 34986Missing in isoform 3.
VSP_027809
Alternative sequence289 – 34961Missing in isoform 2.
VSP_027810
Natural variant1711S → R.
Corresponds to variant rs11576830 [ dbSNP | Ensembl ].
VAR_034873
Natural variant2821A → T. Ref.5
Corresponds to variant rs1128750 [ dbSNP | Ensembl ].
VAR_050056
Natural variant2881N → S.
Corresponds to variant rs1128750 [ dbSNP | Ensembl ].
VAR_034874

Experimental info

Sequence conflict831D → G in BAC04114. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 4, 2005. Version 2.
Checksum: 034F41898BDE0BBB

FASTA34937,754
        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 

« Hide

Isoform 2 [UniParc].

Checksum: F3D681F077396E10
Show »

FASTA28830,682
Isoform 3 [UniParc].

Checksum: 1788E87659EF9F18
Show »

FASTA26328,527

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_001007256.1. NM_001007255.2.
NP_689579.3. NM_152366.4.
UniGeneHs.507290.

3D structure databases

ProteinModelPortalQ8NEP7.
SMRQ8NEP7. Positions 16-174, 267-348.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126019. 1 interaction.
STRING9606.ENSP00000356990.

PTM databases

PhosphoSiteQ8NEP7.

Polymorphism databases

DMDM74751256.

Proteomic databases

PaxDbQ8NEP7.
PRIDEQ8NEP7.

Protocols and materials databases

DNASU126823.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000368011; ENSP00000356990; ENSG00000162755. [Q8NEP7-1]
ENST00000392192; ENSP00000376030; ENSG00000162755. [Q8NEP7-2]
GeneID126823.
KEGGhsa:126823.
UCSCuc001fxr.3. human. [Q8NEP7-1]
uc001fxs.3. human. [Q8NEP7-2]
uc021pbu.1. human. [Q8NEP7-3]

Organism-specific databases

CTD126823.
GeneCardsGC01P161068.
HGNCHGNC:28489. KLHDC9.
HPAHPA032058.
neXtProtNX_Q8NEP7.
PharmGKBPA162393459.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG268714.
HOGENOMHOG000113234.
HOVERGENHBG101178.
InParanoidQ8NEP7.
OMAVAPHLME.
OrthoDBEOG7RNK0F.
PhylomeDBQ8NEP7.
TreeFamTF337916.

Gene expression databases

ArrayExpressQ8NEP7.
BgeeQ8NEP7.
CleanExHS_KLHDC9.
GenevestigatorQ8NEP7.

Family and domain databases

Gene3D2.120.10.80. 2 hits.
InterProIPR011043. Gal_Oxase/kelch_b-propeller.
IPR015915. Kelch-typ_b-propeller.
[Graphical view]
SUPFAMSSF50965. SSF50965. 2 hits.
ProtoNetSearch...

Other

GenomeRNAi126823.
NextBio81931.
PROQ8NEP7.

Entry information

Entry nameKLDC9_HUMAN
AccessionPrimary (citable) accession number: Q8NEP7
Secondary accession number(s): Q5SY56 expand/collapse secondary AC list , Q6NXT9, Q6PKN4, Q8N5E1, Q8NA16
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: January 4, 2005
Last modified: April 16, 2014
This is version 92 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM