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Protein

Kelch domain-containing protein 4

Gene

KLHDC4

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 4
Gene namesi
Name:KLHDC4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:25272. KLHDC4.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134914472.

Polymorphism and mutation databases

BioMutaiKLHDC4.
DMDMi74730447.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 520520Kelch domain-containing protein 4PRO_0000228998Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei413 – 4131PhosphoserineCombined sources
Modified residuei418 – 4181PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TBB5.
MaxQBiQ8TBB5.
PaxDbiQ8TBB5.
PeptideAtlasiQ8TBB5.
PRIDEiQ8TBB5.

PTM databases

iPTMnetiQ8TBB5.
PhosphoSiteiQ8TBB5.

Expressioni

Gene expression databases

BgeeiQ8TBB5.
CleanExiHS_KLHDC4.
ExpressionAtlasiQ8TBB5. baseline and differential.
GenevisibleiQ8TBB5. HS.

Organism-specific databases

HPAiHPA041665.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP76Q8TAP63EBI-8472352,EBI-742887
KDM1AO603412EBI-8472352,EBI-710124
SUV39H1O434632EBI-8472352,EBI-349968
SUV39H2Q9H5I12EBI-8472352,EBI-723127
TERF1P542742EBI-8472352,EBI-710997

Protein-protein interaction databases

BioGridi120134. 10 interactions.
IntActiQ8TBB5. 5 interactions.
MINTiMINT-2811738.
STRINGi9606.ENSP00000270583.

Structurei

3D structure databases

ProteinModelPortaliQ8TBB5.
SMRiQ8TBB5. Positions 43-275.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati77 – 12953Kelch 1Add
BLAST
Repeati133 – 18755Kelch 2Add
BLAST
Repeati188 – 24154Kelch 3Add
BLAST
Repeati243 – 28947Kelch 4Add
BLAST
Repeati308 – 36154Kelch 5Add
BLAST
Repeati443 – 49452Kelch 6Add
BLAST

Sequence similaritiesi

Contains 6 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG1230. Eukaryota.
ENOG410XPJI. LUCA.
GeneTreeiENSGT00390000003374.
HOGENOMiHOG000182790.
HOVERGENiHBG055522.
InParanoidiQ8TBB5.
OMAiWEEIKPR.
OrthoDBiEOG789CBM.
PhylomeDBiQ8TBB5.
TreeFamiTF323290.

Family and domain databases

Gene3Di2.120.10.80. 2 hits.
InterProiIPR015915. Kelch-typ_b-propeller.
IPR011498. Kelch_2.
[Graphical view]
PfamiPF07646. Kelch_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8TBB5-1) [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
MGKKGKKEKK GRGAEKTAAK MEKKVSKRSR KEEEDLEALI AHFQTLDAKR
60 70 80 90 100
TQTVELPCPP PSPRLNASLS VHPEKDELIL FGGEYFNGQK TFLYNELYVY
110 120 130 140 150
NTRKDTWTKV DIPSPPPRRC AHQAVVVPQG GGQLWVFGGE FASPNGEQFY
160 170 180 190 200
HYKDLWVLHL ATKTWEQVKS TGGPSGRSGH RMVAWKRQLI LFGGFHESTR
210 220 230 240 250
DYIYYNDVYA FNLDTFTWSK LSPSGTGPTP RSGCQMSVTP QGGIVVYGGY
260 270 280 290 300
SKQRVKKDVD KGTRHSDMFL LKPEDGREDK WVWTRMNPSG VKPTPRSGFS
310 320 330 340 350
VAMAPNHQTL FFGGVCDEEE EESLSGEFFN DLYFYDATRN RWFEGQLKGP
360 370 380 390 400
KSEKKKRRRG RKEEPEGGSR PACGGAGTQG PVQLVKEVVA EDGTVVTIKQ
410 420 430 440 450
VLTAPGSAGQ PRSEDEDSLE EAGSPAPGPC PRSNAMLAVK HGVLYVYGGM
460 470 480 490 500
FEAGDRQVTL SDLHCLDLHR MEAWKALVEM DPETQEWLEE TDSEEDSEEV
510 520
EGAEGGVDDE DSGEESGAED
Length:520
Mass (Da):57,892
Last modified:June 1, 2002 - v1
Checksum:i0DD22CB9FEBD5A72
GO
Isoform 2 (identifier: Q8TBB5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     34-90: Missing.

Note: No experimental confirmation available.
Show »
Length:463
Mass (Da):51,547
Checksum:iF603F987FD8C9357
GO
Isoform 3 (identifier: Q8TBB5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     170-200: Missing.

Note: No experimental confirmation available.
Show »
Length:489
Mass (Da):54,496
Checksum:iF579B9C0AA4A1D16
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561L → V.
Corresponds to variant rs2303772 [ dbSNP | Ensembl ].
VAR_033986
Natural varianti102 – 1021T → I.1 Publication
Corresponds to variant rs2303771 [ dbSNP | Ensembl ].
VAR_050054
Natural varianti130 – 1301G → V.
Corresponds to variant rs34779002 [ dbSNP | Ensembl ].
VAR_061340
Natural varianti155 – 1551L → V.
Corresponds to variant rs3751727 [ dbSNP | Ensembl ].
VAR_033987

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei34 – 9057Missing in isoform 2. 1 PublicationVSP_017728Add
BLAST
Alternative sequencei170 – 20031Missing in isoform 3. 1 PublicationVSP_017729Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CH471114 Genomic DNA. Translation: EAW95377.1.
CH471114 Genomic DNA. Translation: EAW95378.1.
CH471114 Genomic DNA. Translation: EAW95379.1.
CH471114 Genomic DNA. Translation: EAW95381.1.
CH471114 Genomic DNA. Translation: EAW95382.1.
CH471114 Genomic DNA. Translation: EAW95383.1.
BC001044 mRNA. Translation: AAH01044.1.
BC011680 mRNA. Translation: AAH11680.1.
BC022969 mRNA. Translation: AAH22969.1.
CCDSiCCDS10963.1. [Q8TBB5-1]
CCDS54050.1. [Q8TBB5-2]
CCDS54051.1. [Q8TBB5-3]
RefSeqiNP_001171783.1. NM_001184854.1. [Q8TBB5-2]
NP_001171785.1. NM_001184856.1. [Q8TBB5-3]
NP_060036.2. NM_017566.3. [Q8TBB5-1]
XP_005256051.1. XM_005255994.2. [Q8TBB5-1]
UniGeneiHs.123450.

Genome annotation databases

EnsembliENST00000270583; ENSP00000270583; ENSG00000104731. [Q8TBB5-1]
ENST00000347925; ENSP00000325717; ENSG00000104731. [Q8TBB5-3]
ENST00000353170; ENSP00000262530; ENSG00000104731. [Q8TBB5-2]
ENST00000567298; ENSP00000457570; ENSG00000104731. [Q8TBB5-1]
GeneIDi54758.
KEGGihsa:54758.
UCSCiuc002fki.4. human. [Q8TBB5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CH471114 Genomic DNA. Translation: EAW95377.1.
CH471114 Genomic DNA. Translation: EAW95378.1.
CH471114 Genomic DNA. Translation: EAW95379.1.
CH471114 Genomic DNA. Translation: EAW95381.1.
CH471114 Genomic DNA. Translation: EAW95382.1.
CH471114 Genomic DNA. Translation: EAW95383.1.
BC001044 mRNA. Translation: AAH01044.1.
BC011680 mRNA. Translation: AAH11680.1.
BC022969 mRNA. Translation: AAH22969.1.
CCDSiCCDS10963.1. [Q8TBB5-1]
CCDS54050.1. [Q8TBB5-2]
CCDS54051.1. [Q8TBB5-3]
RefSeqiNP_001171783.1. NM_001184854.1. [Q8TBB5-2]
NP_001171785.1. NM_001184856.1. [Q8TBB5-3]
NP_060036.2. NM_017566.3. [Q8TBB5-1]
XP_005256051.1. XM_005255994.2. [Q8TBB5-1]
UniGeneiHs.123450.

3D structure databases

ProteinModelPortaliQ8TBB5.
SMRiQ8TBB5. Positions 43-275.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120134. 10 interactions.
IntActiQ8TBB5. 5 interactions.
MINTiMINT-2811738.
STRINGi9606.ENSP00000270583.

PTM databases

iPTMnetiQ8TBB5.
PhosphoSiteiQ8TBB5.

Polymorphism and mutation databases

BioMutaiKLHDC4.
DMDMi74730447.

Proteomic databases

EPDiQ8TBB5.
MaxQBiQ8TBB5.
PaxDbiQ8TBB5.
PeptideAtlasiQ8TBB5.
PRIDEiQ8TBB5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000270583; ENSP00000270583; ENSG00000104731. [Q8TBB5-1]
ENST00000347925; ENSP00000325717; ENSG00000104731. [Q8TBB5-3]
ENST00000353170; ENSP00000262530; ENSG00000104731. [Q8TBB5-2]
ENST00000567298; ENSP00000457570; ENSG00000104731. [Q8TBB5-1]
GeneIDi54758.
KEGGihsa:54758.
UCSCiuc002fki.4. human. [Q8TBB5-1]

Organism-specific databases

CTDi54758.
GeneCardsiKLHDC4.
HGNCiHGNC:25272. KLHDC4.
HPAiHPA041665.
neXtProtiNX_Q8TBB5.
PharmGKBiPA134914472.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1230. Eukaryota.
ENOG410XPJI. LUCA.
GeneTreeiENSGT00390000003374.
HOGENOMiHOG000182790.
HOVERGENiHBG055522.
InParanoidiQ8TBB5.
OMAiWEEIKPR.
OrthoDBiEOG789CBM.
PhylomeDBiQ8TBB5.
TreeFamiTF323290.

Miscellaneous databases

ChiTaRSiKLHDC4. human.
GenomeRNAii54758.
PROiQ8TBB5.

Gene expression databases

BgeeiQ8TBB5.
CleanExiHS_KLHDC4.
ExpressionAtlasiQ8TBB5. baseline and differential.
GenevisibleiQ8TBB5. HS.

Family and domain databases

Gene3Di2.120.10.80. 2 hits.
InterProiIPR015915. Kelch-typ_b-propeller.
IPR011498. Kelch_2.
[Graphical view]
PfamiPF07646. Kelch_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT ILE-102.
    Tissue: Cervix, Placenta and Uterus.
  3. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-413 AND SER-418, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  4. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-413 AND SER-418, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-413 AND SER-418, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-413 AND SER-418, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-418, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Erythroleukemia.

Entry informationi

Entry nameiKLDC4_HUMAN
AccessioniPrimary (citable) accession number: Q8TBB5
Secondary accession number(s): D3DUN3
, D3DUN4, D3DUN5, Q96F29, Q9BVN3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: June 1, 2002
Last modified: July 6, 2016
This is version 114 of the entry and version 1 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 16
    Human chromosome 16: 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. 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.