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Protein

Kelch domain-containing protein 1

Gene

KLHDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-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

HGNCiHGNC:19836. KLHDC1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134938689.

Polymorphism and mutation databases

BioMutaiKLHDC1.
DMDMi90110030.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 406406Kelch domain-containing protein 1PRO_0000119126Add
BLAST

Proteomic databases

PaxDbiQ8N7A1.
PRIDEiQ8N7A1.

PTM databases

iPTMnetiQ8N7A1.
PhosphoSiteiQ8N7A1.

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 interactions.
STRINGi9606.ENSP00000352282.

Structurei

3D structure databases

ProteinModelPortaliQ8N7A1.
SMRiQ8N7A1. Positions 18-342.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati24 – 7653Kelch 1Add
BLAST
Repeati80 – 13455Kelch 2Add
BLAST
Repeati135 – 18147Kelch 3Add
BLAST
Repeati208 – 25851Kelch 4Add
BLAST
Repeati260 – 30748Kelch 5Add
BLAST
Repeati311 – 36151Kelch 6Add
BLAST

Sequence similaritiesi

Contains 6 Kelch repeats.Curated

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.
InterProiIPR015915. Kelch-typ_b-propeller.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti32 – 321V → A in BAC05398 (Ref. 1) Curated

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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8N7A1.
SMRiQ8N7A1. Positions 18-342.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8N7A1. 2 interactions.
STRINGi9606.ENSP00000352282.

PTM databases

iPTMnetiQ8N7A1.
PhosphoSiteiQ8N7A1.

Polymorphism and mutation databases

BioMutaiKLHDC1.
DMDMi90110030.

Proteomic databases

PaxDbiQ8N7A1.
PRIDEiQ8N7A1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi122773.
GeneCardsiKLHDC1.
HGNCiHGNC:19836. KLHDC1.
HPAiHPA020461.
MIMi611281. gene.
neXtProtiNX_Q8N7A1.
PharmGKBiPA134938689.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii122773.
PROiQ8N7A1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197776.
CleanExiHS_KLHDC1.
ExpressionAtlasiQ8N7A1. baseline and differential.
GenevisibleiQ8N7A1. HS.

Family and domain databases

Gene3Di2.120.10.80. 2 hits.
InterProiIPR015915. Kelch-typ_b-propeller.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKLDC1_HUMAN
AccessioniPrimary (citable) accession number: Q8N7A1
Secondary accession number(s): B3KXD9, Q8WYI1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 12, 2003
Last sequence update: March 21, 2006
Last modified: September 7, 2016
This is version 104 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 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.