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Q8NEP7

- KLDC9_HUMAN

UniProt

Q8NEP7 - KLDC9_HUMAN

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Protein
Kelch domain-containing protein 9
Gene
KLHDC9, KARCA1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch domain-containing protein 9
Alternative name(s):
Kelch/ankyrin repeat-containing cyclin A1-interacting protein
Gene namesi
Name:KLHDC9
Synonyms:KARCA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:28489. KLHDC9.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162393459.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 349349Kelch domain-containing protein 9
PRO_0000300464Add
BLAST

Proteomic databases

PaxDbiQ8NEP7.
PRIDEiQ8NEP7.

PTM databases

PhosphoSiteiQ8NEP7.

Expressioni

Gene expression databases

ArrayExpressiQ8NEP7.
BgeeiQ8NEP7.
CleanExiHS_KLHDC9.
GenevestigatoriQ8NEP7.

Organism-specific databases

HPAiHPA032058.

Interactioni

Subunit structurei

Interacts with CCNA1.1 Publication

Protein-protein interaction databases

BioGridi126019. 1 interaction.
STRINGi9606.ENSP00000356990.

Structurei

3D structure databases

ProteinModelPortaliQ8NEP7.
SMRiQ8NEP7. Positions 16-141.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati39 – 8951Kelch 1
Add
BLAST
Repeati91 – 13747Kelch 2
Add
BLAST
Repeati325 – 34925Kelch 3
Add
BLAST

Sequence similaritiesi

Contains 3 Kelch repeats.

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiNOG268714.
HOGENOMiHOG000113234.
HOVERGENiHBG101178.
InParanoidiQ8NEP7.
OMAiVAPHLME.
OrthoDBiEOG7RNK0F.
PhylomeDBiQ8NEP7.
TreeFamiTF337916.

Family and domain databases

Gene3Di2.120.10.80. 2 hits.
InterProiIPR011043. Gal_Oxase/kelch_b-propeller.
IPR015915. Kelch-typ_b-propeller.
[Graphical view]
SUPFAMiSSF50965. SSF50965. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NEP7-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAVAVPPGRA AGSGWAWRPV ARDALLARAF HSCTELRGRF YLVGGLLAGG    50
AREPSSDTVV FDPARGQAVR LGARGSPPRS HHDAAPVDGR WLCVVGGWDG 100
SRRLATVTAL DTERGVWEAW TGTPGDCPPA GLSSHTCTRI SDRELQVAGR 150
EGGIHTQRRY GSIYTLRLDP SARTYCYKQE GCHTASRSGH CAALLQTPGP 200
HPGHQLLLFG GCNLAEPEVA GHWSHGKIKE EPPVAPHLME QLARLVSSGQ 250
GSQKGPHGLR HHSCSVVGPF AVLFGGETLT RARDTICNDL YIYDTRTSPP 300
LWFHFPCADR GMKRMGHRTC LWNDQLYLVG GFGEDGRTAS PQVCILDFI 349
Length:349
Mass (Da):37,754
Last modified:January 4, 2005 - v2
Checksum:i034F41898BDE0BBB
GO
Isoform 2 (identifier: Q8NEP7-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:288
Mass (Da):30,682
Checksum:iF3D681F077396E10
GO
Isoform 3 (identifier: Q8NEP7-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:263
Mass (Da):28,527
Checksum:i1788E87659EF9F18
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti171 – 1711S → R.
Corresponds to variant rs11576830 [ dbSNP | Ensembl ].
VAR_034873
Natural varianti282 – 2821A → T.1 Publication
Corresponds to variant rs1128750 [ dbSNP | Ensembl ].
VAR_050056
Natural varianti288 – 2881N → S.
Corresponds to variant rs1128750 [ dbSNP | Ensembl ].
VAR_034874

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei176 – 26388CYKQE…LRHHS → WYGTLRPKPFTLIHTLEKQK PKQISQAIYPPPHSSTLLPG EPTMFKLAELSTVLPSLLSH LPHCPMPLLHPSLARAVALT FSRKPTQP in isoform 3.
VSP_027807Add
BLAST
Alternative sequencei230 – 28859EEPPV…DTICN → SFLSPQGGTTCCSSFDGTAC KACEQWAGVPEGAPWTTASL MFCGRALCCAVWWRNSDQS in isoform 2.
VSP_027808Add
BLAST
Alternative sequencei264 – 34986Missing in isoform 3.
VSP_027809Add
BLAST
Alternative sequencei289 – 34961Missing in isoform 2.
VSP_027810Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti83 – 831D → G in BAC04114. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS30919.1. [Q8NEP7-1]
CCDS41425.1. [Q8NEP7-2]
RefSeqiNP_001007256.1. NM_001007255.2. [Q8NEP7-2]
NP_689579.3. NM_152366.4. [Q8NEP7-1]
UniGeneiHs.507290.

Genome annotation databases

EnsembliENST00000368011; ENSP00000356990; ENSG00000162755. [Q8NEP7-1]
ENST00000392192; ENSP00000376030; ENSG00000162755. [Q8NEP7-2]
GeneIDi126823.
KEGGihsa:126823.
UCSCiuc001fxr.3. human. [Q8NEP7-1]
uc001fxs.3. human. [Q8NEP7-2]
uc021pbu.1. human. [Q8NEP7-3]

Polymorphism databases

DMDMi74751256.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS30919.1. [Q8NEP7-1 ]
CCDS41425.1. [Q8NEP7-2 ]
RefSeqi NP_001007256.1. NM_001007255.2. [Q8NEP7-2 ]
NP_689579.3. NM_152366.4. [Q8NEP7-1 ]
UniGenei Hs.507290.

3D structure databases

ProteinModelPortali Q8NEP7.
SMRi Q8NEP7. Positions 16-141.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126019. 1 interaction.
STRINGi 9606.ENSP00000356990.

PTM databases

PhosphoSitei Q8NEP7.

Polymorphism databases

DMDMi 74751256.

Proteomic databases

PaxDbi Q8NEP7.
PRIDEi Q8NEP7.

Protocols and materials databases

DNASUi 126823.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000368011 ; ENSP00000356990 ; ENSG00000162755 . [Q8NEP7-1 ]
ENST00000392192 ; ENSP00000376030 ; ENSG00000162755 . [Q8NEP7-2 ]
GeneIDi 126823.
KEGGi hsa:126823.
UCSCi uc001fxr.3. human. [Q8NEP7-1 ]
uc001fxs.3. human. [Q8NEP7-2 ]
uc021pbu.1. human. [Q8NEP7-3 ]

Organism-specific databases

CTDi 126823.
GeneCardsi GC01P161068.
HGNCi HGNC:28489. KLHDC9.
HPAi HPA032058.
neXtProti NX_Q8NEP7.
PharmGKBi PA162393459.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG268714.
HOGENOMi HOG000113234.
HOVERGENi HBG101178.
InParanoidi Q8NEP7.
OMAi VAPHLME.
OrthoDBi EOG7RNK0F.
PhylomeDBi Q8NEP7.
TreeFami TF337916.

Miscellaneous databases

GenomeRNAii 126823.
NextBioi 81931.
PROi Q8NEP7.

Gene expression databases

ArrayExpressi Q8NEP7.
Bgeei Q8NEP7.
CleanExi HS_KLHDC9.
Genevestigatori Q8NEP7.

Family and domain databases

Gene3Di 2.120.10.80. 2 hits.
InterProi IPR011043. Gal_Oxase/kelch_b-propeller.
IPR015915. Kelch-typ_b-propeller.
[Graphical view ]
SUPFAMi SSF50965. SSF50965. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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.

Entry informationi

Entry nameiKLDC9_HUMAN
AccessioniPrimary (citable) accession number: Q8NEP7
Secondary accession number(s): Q5SY56
, Q6NXT9, Q6PKN4, Q8N5E1, Q8NA16
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: January 4, 2005
Last modified: July 9, 2014
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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