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Protein

Kelch domain-containing protein 8A

Gene

KLHDC8A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch domain-containing protein 8A
Alternative name(s):
Substitute for delta-EGFR expression 1
Short name:
S-delta-E1
Gene namesi
Name:KLHDC8A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:25573. KLHDC8A.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi55220.
OpenTargetsiENSG00000162873.
PharmGKBiPA142671583.

Polymorphism and mutation databases

DMDMi296434568.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002290011 – 350Kelch domain-containing protein 8AAdd BLAST350

Proteomic databases

PaxDbiQ8IYD2.
PRIDEiQ8IYD2.

PTM databases

iPTMnetiQ8IYD2.
PhosphoSitePlusiQ8IYD2.

Expressioni

Gene expression databases

BgeeiENSG00000162873.
CleanExiHS_KLHDC8A.
ExpressionAtlasiQ8IYD2. baseline and differential.
GenevisibleiQ8IYD2. HS.

Organism-specific databases

HPAiHPA030181.

Interactioni

Protein-protein interaction databases

BioGridi120516. 16 interactors.
IntActiQ8IYD2. 2 interactors.
STRINGi9606.ENSP00000356123.

Structurei

3D structure databases

ProteinModelPortaliQ8IYD2.
SMRiQ8IYD2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1 – 31Kelch 1Add BLAST31
Repeati32 – 79Kelch 2Add BLAST48
Repeati81 – 127Kelch 3Add BLAST47
Repeati128 – 175Kelch 4Add BLAST48
Repeati176 – 222Kelch 5Add BLAST47
Repeati224 – 278Kelch 6Add BLAST55
Repeati279 – 326Kelch 7Add BLAST48

Sequence similaritiesi

Contains 7 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG1072. Eukaryota.
ENOG4110X8D. LUCA.
GeneTreeiENSGT00760000119153.
HOGENOMiHOG000065733.
HOVERGENiHBG055245.
InParanoidiQ8IYD2.
OMAiGKNKWEV.
OrthoDBiEOG091G08A7.
PhylomeDBiQ8IYD2.

Family and domain databases

Gene3Di2.120.10.80. 2 hits.
InterProiIPR011043. Gal_Oxase/kelch_b-propeller.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF01344. Kelch_1. 3 hits.
[Graphical view]
SMARTiSM00612. Kelch. 5 hits.
[Graphical view]
SUPFAMiSSF50965. SSF50965. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8IYD2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEVPNVKDFQ WKRLAPLPSR RVYCSLLETG GQVYAIGGCD DNGVPMDCFE
60 70 80 90 100
VYSPEADQWT ALPRLPTARA GVAVTALGKR IMVIGGVGTN QLPLKVVEMY
110 120 130 140 150
NIDEGKWKKR SMLREAAMGI SVTAKDYRVY AAGGMGLDLR PHNHLQHYDM
160 170 180 190 200
LKDMWVSLAP MPTPRYAATS FLRGSKIYVL GGRQSKYAVN AFEVFDIETR
210 220 230 240 250
SWTKFPNIPY KRAFSSFVTL DNHLYSLGGL RQGRLYRQPK FLRTMDVFDM
260 270 280 290 300
EQGGWLKMER SFFLKKRRAD FVAGSLSGRV IVAGGLGNQP TVLETAEAFH
310 320 330 340 350
PGKNKWEILP AMPTPRCACS SIVVKNCLLA VGGVNQGLSD AVEALCVSDS
Length:350
Mass (Da):38,859
Last modified:May 18, 2010 - v2
Checksum:i18F980074F22074B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti160P → H in AAH36076 (PubMed:15489334).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001610 mRNA. Translation: BAA91787.1.
AK096590 mRNA. Translation: BAG53332.1.
AC098933 Genomic DNA. No translation available.
AC098936 Genomic DNA. No translation available.
CH471067 Genomic DNA. Translation: EAW91550.1.
BC036076 mRNA. Translation: AAH36076.1.
CCDSiCCDS30985.1.
RefSeqiNP_001258792.1. NM_001271863.1.
NP_001258793.1. NM_001271864.1.
NP_001258794.1. NM_001271865.1.
NP_060673.1. NM_018203.2.
UniGeneiHs.10414.
Hs.745401.

Genome annotation databases

EnsembliENST00000367155; ENSP00000356123; ENSG00000162873.
ENST00000367156; ENSP00000356124; ENSG00000162873.
ENST00000539253; ENSP00000442229; ENSG00000162873.
GeneIDi55220.
KEGGihsa:55220.
UCSCiuc001hcf.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001610 mRNA. Translation: BAA91787.1.
AK096590 mRNA. Translation: BAG53332.1.
AC098933 Genomic DNA. No translation available.
AC098936 Genomic DNA. No translation available.
CH471067 Genomic DNA. Translation: EAW91550.1.
BC036076 mRNA. Translation: AAH36076.1.
CCDSiCCDS30985.1.
RefSeqiNP_001258792.1. NM_001271863.1.
NP_001258793.1. NM_001271864.1.
NP_001258794.1. NM_001271865.1.
NP_060673.1. NM_018203.2.
UniGeneiHs.10414.
Hs.745401.

3D structure databases

ProteinModelPortaliQ8IYD2.
SMRiQ8IYD2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120516. 16 interactors.
IntActiQ8IYD2. 2 interactors.
STRINGi9606.ENSP00000356123.

PTM databases

iPTMnetiQ8IYD2.
PhosphoSitePlusiQ8IYD2.

Polymorphism and mutation databases

DMDMi296434568.

Proteomic databases

PaxDbiQ8IYD2.
PRIDEiQ8IYD2.

Protocols and materials databases

DNASUi55220.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367155; ENSP00000356123; ENSG00000162873.
ENST00000367156; ENSP00000356124; ENSG00000162873.
ENST00000539253; ENSP00000442229; ENSG00000162873.
GeneIDi55220.
KEGGihsa:55220.
UCSCiuc001hcf.3. human.

Organism-specific databases

CTDi55220.
DisGeNETi55220.
GeneCardsiKLHDC8A.
HGNCiHGNC:25573. KLHDC8A.
HPAiHPA030181.
MIMi614503. gene.
neXtProtiNX_Q8IYD2.
OpenTargetsiENSG00000162873.
PharmGKBiPA142671583.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1072. Eukaryota.
ENOG4110X8D. LUCA.
GeneTreeiENSGT00760000119153.
HOGENOMiHOG000065733.
HOVERGENiHBG055245.
InParanoidiQ8IYD2.
OMAiGKNKWEV.
OrthoDBiEOG091G08A7.
PhylomeDBiQ8IYD2.

Miscellaneous databases

GenomeRNAii55220.
PROiQ8IYD2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162873.
CleanExiHS_KLHDC8A.
ExpressionAtlasiQ8IYD2. baseline and differential.
GenevisibleiQ8IYD2. HS.

Family and domain databases

Gene3Di2.120.10.80. 2 hits.
InterProiIPR011043. Gal_Oxase/kelch_b-propeller.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF01344. Kelch_1. 3 hits.
[Graphical view]
SMARTiSM00612. Kelch. 5 hits.
[Graphical view]
SUPFAMiSSF50965. SSF50965. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiKLD8A_HUMAN
AccessioniPrimary (citable) accession number: Q8IYD2
Secondary accession number(s): B3KU70, Q9NVG5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 102 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. 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.