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Protein

Kelch domain-containing protein 2

Gene

KLHDC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Represses CREB3-mediated transcription by interfering with CREB3-DNA binding.1 Publication

Caution

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch domain-containing protein 2
Alternative name(s):
Hepatocellular carcinoma-associated antigen 33
Host cell factor homolog LCP
Host cell factor-like protein 1
Short name:
HCLP-1
Gene namesi
Name:KLHDC2
Synonyms:HCA33
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000165516.10
HGNCiHGNC:20231 KLHDC2
MIMi611280 gene
neXtProtiNX_Q9Y2U9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi23588
OpenTargetsiENSG00000165516
PharmGKBiPA134924955

Polymorphism and mutation databases

BioMutaiKLHDC2
DMDMi28380093

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001191271 – 406Kelch domain-containing protein 2Add BLAST406

Proteomic databases

EPDiQ9Y2U9
PaxDbiQ9Y2U9
PeptideAtlasiQ9Y2U9
PRIDEiQ9Y2U9

PTM databases

iPTMnetiQ9Y2U9
PhosphoSitePlusiQ9Y2U9

Expressioni

Tissue specificityi

Widely expressed, with high levels in skeletal muscle, heart, pancreas and liver. Undetectable in peripheral blood leukocytes.2 Publications

Gene expression databases

BgeeiENSG00000165516
CleanExiHS_KLHDC2
ExpressionAtlasiQ9Y2U9 baseline and differential
GenevisibleiQ9Y2U9 HS

Organism-specific databases

HPAiHPA000628

Interactioni

Subunit structurei

Directly interacts with CREB3, but not with CREB1, ATF4, ATF6, JUN, FOS, CEBPA and herpes simplex virus transactivator VP16.1 Publication

Protein-protein interaction databases

BioGridi11712354 interactors.
IntActiQ9Y2U9 20 interactors.
MINTiQ9Y2U9
STRINGi9606.ENSP00000298307

Structurei

3D structure databases

ProteinModelPortaliQ9Y2U9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati43 – 89Kelch 1Add BLAST47
Repeati102 – 155Kelch 2Add BLAST54
Repeati157 – 202Kelch 3Add BLAST46
Repeati229 – 278Kelch 4Add BLAST50
Repeati280 – 329Kelch 5Add BLAST50
Repeati331 – 377Kelch 6Add BLAST47

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG0379 Eukaryota
ENOG410Y5WM LUCA
GeneTreeiENSGT00760000119086
HOGENOMiHOG000006587
HOVERGENiHBG067471
InParanoidiQ9Y2U9
OMAiCATVGNK
OrthoDBiEOG091G06BF
PhylomeDBiQ9Y2U9
TreeFamiTF314081

Family and domain databases

Gene3Di2.120.10.802 hits
InterProiView protein in InterPro
IPR015915 Kelch-typ_b-propeller
SUPFAMiSSF117281 SSF117281, 2 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y2U9-1) [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
MADGNEDLRA DDLPGPAFES YESMELACPA ERSGHVAVSD GRHMFVWGGY
60 70 80 90 100
KSNQVRGLYD FYLPREELWI YNMETGRWKK INTEGDVPPS MSGSCAVCVD
110 120 130 140 150
RVLYLFGGHH SRGNTNKFYM LDSRSTDRVL QWERIDCQGI PPSSKDKLGV
160 170 180 190 200
WVYKNKLIFF GGYGYLPEDK VLGTFEFDET SFWNSSHPRG WNDHVHILDT
210 220 230 240 250
ETFTWSQPIT TGKAPSPRAA HACATVGNRG FVFGGRYRDA RMNDLHYLNL
260 270 280 290 300
DTWEWNELIP QGICPVGRSW HSLTPVSSDH LFLFGGFTTD KQPLSDAWTY
310 320 330 340 350
CISKNEWIQF NHPYTEKPRL WHTACASDEG EVIVFGGCAN NLLVHHRAAH
360 370 380 390 400
SNEILIFSVQ PKSLVRLSLE AVICFKEMLA NSWNCLPKHL LHSVNQRFGS

NNTSGS
Length:406
Mass (Da):46,099
Last modified:November 1, 1999 - v1
Checksum:i07486B06AC4E97FF
GO
Isoform 2 (identifier: Q9Y2U9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     239-249: DARMNDLHYLN → VSIQTTSMTCF
     250-406: Missing.

Note: No experimental confirmation available.
Show »
Length:249
Mass (Da):28,198
Checksum:i19ED55962024271A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti25E → D in CAG33486 (Ref. 5) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030165239 – 249DARMNDLHYLN → VSIQTTSMTCF in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_030166250 – 406Missing in isoform 2. 1 PublicationAdd BLAST157

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF113131 mRNA Translation: AAD21038.1
AF244137 mRNA Translation: AAF66246.1
BX161429 mRNA Translation: CAD61901.1
AK001771 mRNA Translation: BAA91898.1
AK056298 mRNA Translation: BAG51671.1
CR457205 mRNA Translation: CAG33486.1
CH471078 Genomic DNA Translation: EAW65749.1
CH471078 Genomic DNA Translation: EAW65750.1
BC002335 mRNA Translation: AAH02335.1
BC024192 mRNA Translation: AAH24192.1
CCDSiCCDS9693.1 [Q9Y2U9-1]
RefSeqiNP_055130.1, NM_014315.2 [Q9Y2U9-1]
UniGeneiHs.509264

Genome annotation databases

EnsembliENST00000298307; ENSP00000298307; ENSG00000165516 [Q9Y2U9-1]
ENST00000555443; ENSP00000450944; ENSG00000165516 [Q9Y2U9-2]
ENST00000555739; ENSP00000450539; ENSG00000165516 [Q9Y2U9-2]
GeneIDi23588
KEGGihsa:23588
UCSCiuc001wwx.4 human [Q9Y2U9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiKLDC2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2U9
Secondary accession number(s): B3KPF9, Q6IAF0, Q86TY9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 12, 2003
Last sequence update: November 1, 1999
Last modified: March 28, 2018
This is version 139 of the entry and version 1 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