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Protein

Kelch domain-containing protein 1

Gene

KLHDC1

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

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch domain-containing protein 1
Gene namesi
Name:KLHDC1
ORF Names:MSTP025
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000197776.7
HGNCiHGNC:19836 KLHDC1
MIMi611281 gene
neXtProtiNX_Q8N7A1

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

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi122773
OpenTargetsiENSG00000197776
PharmGKBiPA134938689

Polymorphism and mutation databases

BioMutaiKLHDC1
DMDMi90110030

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001191261 – 406Kelch domain-containing protein 1Add BLAST406

Proteomic databases

PaxDbiQ8N7A1
PeptideAtlasiQ8N7A1
PRIDEiQ8N7A1
ProteomicsDBi72277

PTM databases

iPTMnetiQ8N7A1
PhosphoSitePlusiQ8N7A1

Expressioni

Tissue specificityi

Widely expressed, with high levels in skeletal muscle, pancreas and liver. Undetectable in peripheral blood leukocytes.1 Publication

Gene expression databases

BgeeiENSG00000197776
CleanExiHS_KLHDC1
ExpressionAtlasiQ8N7A1 baseline and differential
GenevisibleiQ8N7A1 HS

Organism-specific databases

HPAiHPA020461

Interactioni

Protein-protein interaction databases

IntActiQ8N7A1, 2 interactors
STRINGi9606.ENSP00000352282

Structurei

3D structure databases

ProteinModelPortaliQ8N7A1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati24 – 76Kelch 1Add BLAST53
Repeati80 – 134Kelch 2Add BLAST55
Repeati135 – 181Kelch 3Add BLAST47
Repeati208 – 258Kelch 4Add BLAST51
Repeati260 – 307Kelch 5Add BLAST48
Repeati311 – 361Kelch 6Add BLAST51

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG0379 Eukaryota
ENOG410Y5WM LUCA
GeneTreeiENSGT00760000119086
HOGENOMiHOG000006587
HOVERGENiHBG067471
InParanoidiQ8N7A1
OMAiKITFWAA
OrthoDBiEOG091G06BF
PhylomeDBiQ8N7A1
TreeFamiTF314081

Family and domain databases

Gene3Di2.120.10.80, 2 hits
InterProiView protein in InterPro
IPR015915 Kelch-typ_b-propeller
SUPFAMiSSF117281 SSF117281, 2 hits

Sequencei

Sequence statusi: Complete.

Q8N7A1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MADSQLFCVA EERSGHCAVV DGNFLYVWGG YVSIEDNEVY LPNDEIWTYD
60 70 80 90 100
IDSGLWRMHL MEGELPASMS GSCGACINGK LYIFGGYDDK GYSNRLYFVN
110 120 130 140 150
LRTRDETYIW EKITDFEGQP PTPRDKLSCW VYKDRLIYFG GYGCRRHSEL
160 170 180 190 200
QDCFDVHDAS WEEQIFWGWH NDVHIFDTKT QTWFQPEIKG GVPPQPRAAH
210 220 230 240 250
TCAVLGNKGY IFGGRVLQTR MNDLHYLNLD TWTWSGRITI NGESPKHRSW
260 270 280 290 300
HTLTPIADDK LFLCGGLSAD NIPLSDGWIH NVTTNCWKQL THLPKTRPRL
310 320 330 340 350
WHTACLGKEN EIMVFGGSKD DLLALDTGHC NDLLIFQTQP YSLLRSCLDC
360 370 380 390 400
IGKNSIMLES QISLLPPKLL QQVLKKITFW AAANHREEQR VQKEETENKY

QWISSN
Length:406
Mass (Da):46,720
Last modified:March 21, 2006 - v2
Checksum:i73F74B22417D12E8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti32V → A in BAC05398 (Ref. 1) Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF111806 mRNA Translation: AAL39008.1
AK098735 mRNA Translation: BAC05398.1
AK127202 mRNA Translation: BAG54451.1
CH471078 Genomic DNA Translation: EAW65753.1
BC101595 mRNA Translation: AAI01596.1
BC101597 mRNA Translation: AAI01598.1
CCDSiCCDS9692.1
RefSeqiNP_751943.1, NM_172193.2
UniGeneiHs.509258

Genome annotation databases

EnsembliENST00000359332; ENSP00000352282; ENSG00000197776
GeneIDi122773
KEGGihsa:122773
UCSCiuc001www.3 human

Similar proteinsi

Entry informationi

Entry nameiKLDC1_HUMAN
AccessioniPrimary (citable) accession number: Q8N7A1
Secondary accession number(s): B3KXD9, Q8WYI1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 12, 2003
Last sequence update: March 21, 2006
Last modified: June 20, 2018
This is version 116 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

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