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Protein

Kelch domain-containing protein 9

Gene

KLHDC9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:28489. KLHDC9.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000162755.
PharmGKBiPA162393459.

Polymorphism and mutation databases

BioMutaiKLHDC9.
DMDMi74751256.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003004641 – 349Kelch domain-containing protein 9Add BLAST349

Proteomic databases

PaxDbiQ8NEP7.
PeptideAtlasiQ8NEP7.
PRIDEiQ8NEP7.

PTM databases

iPTMnetiQ8NEP7.
PhosphoSitePlusiQ8NEP7.

Expressioni

Gene expression databases

BgeeiENSG00000162755.
CleanExiHS_KLHDC9.
GenevisibleiQ8NEP7. HS.

Organism-specific databases

HPAiHPA032058.
HPA043197.

Interactioni

Subunit structurei

Interacts with CCNA1.1 Publication

Protein-protein interaction databases

BioGridi126019. 7 interactors.
IntActiQ8NEP7. 1 interactor.
STRINGi9606.ENSP00000356990.

Structurei

3D structure databases

ProteinModelPortaliQ8NEP7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati39 – 89Kelch 1Add BLAST51
Repeati91 – 137Kelch 2Add BLAST47
Repeati325 – 349Kelch 3Add BLAST25

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG0379. Eukaryota.
ENOG410Y5WM. LUCA.
GeneTreeiENSGT00390000011582.
HOGENOMiHOG000113234.
HOVERGENiHBG101178.
InParanoidiQ8NEP7.
OMAiPVAPHLM.
OrthoDBiEOG091G09A5.
PhylomeDBiQ8NEP7.
TreeFamiTF337916.

Family and domain databases

Gene3Di2.120.10.80. 2 hits.
InterProiView protein in InterPro
IPR011043. Gal_Oxase/kelch_b-propeller.
IPR015915. Kelch-typ_b-propeller.
SUPFAMiSSF50965. SSF50965. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MAVAVPPGRA AGSGWAWRPV ARDALLARAF HSCTELRGRF YLVGGLLAGG
60 70 80 90 100
AREPSSDTVV FDPARGQAVR LGARGSPPRS HHDAAPVDGR WLCVVGGWDG
110 120 130 140 150
SRRLATVTAL DTERGVWEAW TGTPGDCPPA GLSSHTCTRI SDRELQVAGR
160 170 180 190 200
EGGIHTQRRY GSIYTLRLDP SARTYCYKQE GCHTASRSGH CAALLQTPGP
210 220 230 240 250
HPGHQLLLFG GCNLAEPEVA GHWSHGKIKE EPPVAPHLME QLARLVSSGQ
260 270 280 290 300
GSQKGPHGLR HHSCSVVGPF AVLFGGETLT RARDTICNDL YIYDTRTSPP
310 320 330 340
LWFHFPCADR GMKRMGHRTC LWNDQLYLVG GFGEDGRTAS PQVCILDFI
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti83D → G in BAC04114 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034873171S → R. Corresponds to variant dbSNP:rs11576830Ensembl.1
Natural variantiVAR_050056282A → T1 PublicationCorresponds to variant dbSNP:rs1128750Ensembl.1
Natural variantiVAR_034874288N → S. Corresponds to variant dbSNP:rs1128750Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027807176 – 263CYKQE…LRHHS → WYGTLRPKPFTLIHTLEKQK PKQISQAIYPPPHSSTLLPG EPTMFKLAELSTVLPSLLSH LPHCPMPLLHPSLARAVALT FSRKPTQP in isoform 3. 2 PublicationsAdd BLAST88
Alternative sequenceiVSP_027808230 – 288EEPPV…DTICN → SFLSPQGGTTCCSSFDGTAC KACEQWAGVPEGAPWTTASL MFCGRALCCAVWWRNSDQS in isoform 2. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_027809264 – 349Missing in isoform 3. 2 PublicationsAdd BLAST86
Alternative sequenceiVSP_027810289 – 349Missing in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human. [Q8NEP7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKLDC9_HUMAN
AccessioniPrimary (citable) accession number: Q8NEP7
Secondary accession number(s): Q5SY56
, Q6NXT9, Q6PKN4, Q8N5E1, Q8NA16
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: January 4, 2005
Last modified: August 30, 2017
This is version 117 of the entry and version 2 of the sequence. See 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot