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Protein

Kelch domain-containing protein 7A

Gene

KLHDC7A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch domain-containing protein 7A
Gene namesi
Name:KLHDC7A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26791. KLHDC7A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei21 – 38HelicalSequence analysisAdd BLAST18

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi127707.
OpenTargetsiENSG00000179023.
PharmGKBiPA142671581.

Polymorphism and mutation databases

BioMutaiKLHDC7A.
DMDMi238054405.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002850851 – 777Kelch domain-containing protein 7AAdd BLAST777

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei86PhosphoserineBy similarity1
Glycosylationi257N-linked (GlcNAc...)Sequence analysis1
Modified residuei365PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ5VTJ3.
MaxQBiQ5VTJ3.
PaxDbiQ5VTJ3.
PeptideAtlasiQ5VTJ3.
PRIDEiQ5VTJ3.

PTM databases

iPTMnetiQ5VTJ3.
PhosphoSitePlusiQ5VTJ3.

Expressioni

Gene expression databases

BgeeiENSG00000179023.
CleanExiHS_KLHDC7A.
GenevisibleiQ5VTJ3. HS.

Organism-specific databases

HPAiHPA056616.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000383505.

Structurei

3D structure databases

ProteinModelPortaliQ5VTJ3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati328 – 374Kelch 1Add BLAST47
Repeati492 – 538Kelch 2Add BLAST47
Repeati541 – 589Kelch 3Add BLAST49
Repeati590 – 632Kelch 4Add BLAST43
Repeati635 – 677Kelch 5Add BLAST43

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi81 – 84Poly-Arg4

Sequence similaritiesi

Contains 5 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1072. Eukaryota.
ENOG4110X8D. LUCA.
GeneTreeiENSGT00760000118825.
HOGENOMiHOG000246990.
HOVERGENiHBG095597.
InParanoidiQ5VTJ3.
OMAiYECATYR.
OrthoDBiEOG091G02D9.
PhylomeDBiQ5VTJ3.
TreeFamiTF328485.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF01344. Kelch_1. 2 hits.
[Graphical view]
SMARTiSM00612. Kelch. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q5VTJ3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFPRGAEAQD WHLDMQLTGK VVLSAAALLL VTVAYRLYKS RPAPAQRWGG
60 70 80 90 100
NGQAEAKEEA EGSGQPAVQE ASPGVLLRGP RRRRSSKRAE APQGCSCENP
110 120 130 140 150
RGPYVLVTGA TSTDRKPQRK GSGEERGGQG SDSEQVPPCC PSQETRTAVG
160 170 180 190 200
SNPDPPHFPR LGSEPKSSPA GLIAAADGSC AGGEPSPWQD SKPREHPGLG
210 220 230 240 250
QLEPPHCHYV APLQGSSDMN QSWVFTRVIG VSREEAGALE AASDVDLTLH
260 270 280 290 300
QQEGAPNSSY TFSSIARVRM EEHFIQKAEG VEPRLKGKVY DYYVESTSQA
310 320 330 340 350
IFQGRLAPRT AALTEVPSPR PPPGSLGTGA ASGGQAGDTK GAAERAASPQ
360 370 380 390 400
TGPWPSTRGF SRKESLLQIA ENPELQLQPD GFRLPAPPCP DPGALPGLGR
410 420 430 440 450
SSREPHVQPV AGTNFFHIPL TPASAPQVRL DLGNCYEVLT LAKRQNLEAL
460 470 480 490 500
KEAAYKVMSE NYLQVLRSPD IYGCLSGAER ELILQRRLRG RQYLVVADVC
510 520 530 540 550
PKEDSGGLCC YDDEQDVWRP LARMPPEAVS RGCAICSLFN YLFVVSGCQG
560 570 580 590 600
PGHQPSSRVF CYNPLTGIWS EVCPLNQARP HCRLVALDGH LYAIGGECLN
610 620 630 640 650
SVERYDPRLD RWDFAPPLPS DTFALAHTAT VRAKEIFVTG GSLRFLLFRF
660 670 680 690 700
SAQEQRWWAG PTGGSKDRTA EMVAVNGFLY RFDLNRSLGI AVYRCSASTR
710 720 730 740 750
LWYECATYRT PYPDAFQCAV VDNLIYCVGR RSTLCFLADS VSPRFVPKEL
760 770
RSFPAPQGTL LPTVLTLPTP DLPQTRV
Length:777
Mass (Da):84,479
Last modified:May 26, 2009 - v5
Checksum:i463A358331D3E845
GO

Sequence cautioni

The sequence BAC04695 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH73690 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05612621V → L.Corresponds to variant rs7512414dbSNPEnsembl.1
Natural variantiVAR_06134194G → S.Corresponds to variant rs34976233dbSNPEnsembl.1
Natural variantiVAR_061342141P → R.Corresponds to variant rs2992755dbSNPEnsembl.1
Natural variantiVAR_031913147T → P.Corresponds to variant rs2992752dbSNPEnsembl.1
Natural variantiVAR_059441160R → S.Corresponds to variant rs11261022dbSNPEnsembl.1
Natural variantiVAR_056127194R → P.Corresponds to variant rs7515150dbSNPEnsembl.1
Natural variantiVAR_031914273H → N.1 PublicationCorresponds to variant rs2992753dbSNPEnsembl.1
Natural variantiVAR_059442351T → P.1 PublicationCorresponds to variant rs2992752dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL591896 Genomic DNA. Translation: CAH73690.2. Different initiation.
AK096072 mRNA. Translation: BAC04695.1. Different initiation.
CCDSiCCDS185.2.
RefSeqiNP_689588.2. NM_152375.2.
UniGeneiHs.406913.
Hs.710799.

Genome annotation databases

EnsembliENST00000400664; ENSP00000383505; ENSG00000179023.
GeneIDi127707.
KEGGihsa:127707.
UCSCiuc001bax.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL591896 Genomic DNA. Translation: CAH73690.2. Different initiation.
AK096072 mRNA. Translation: BAC04695.1. Different initiation.
CCDSiCCDS185.2.
RefSeqiNP_689588.2. NM_152375.2.
UniGeneiHs.406913.
Hs.710799.

3D structure databases

ProteinModelPortaliQ5VTJ3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000383505.

PTM databases

iPTMnetiQ5VTJ3.
PhosphoSitePlusiQ5VTJ3.

Polymorphism and mutation databases

BioMutaiKLHDC7A.
DMDMi238054405.

Proteomic databases

EPDiQ5VTJ3.
MaxQBiQ5VTJ3.
PaxDbiQ5VTJ3.
PeptideAtlasiQ5VTJ3.
PRIDEiQ5VTJ3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000400664; ENSP00000383505; ENSG00000179023.
GeneIDi127707.
KEGGihsa:127707.
UCSCiuc001bax.4. human.

Organism-specific databases

CTDi127707.
DisGeNETi127707.
GeneCardsiKLHDC7A.
H-InvDBHIX0000187.
HGNCiHGNC:26791. KLHDC7A.
HPAiHPA056616.
neXtProtiNX_Q5VTJ3.
OpenTargetsiENSG00000179023.
PharmGKBiPA142671581.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1072. Eukaryota.
ENOG4110X8D. LUCA.
GeneTreeiENSGT00760000118825.
HOGENOMiHOG000246990.
HOVERGENiHBG095597.
InParanoidiQ5VTJ3.
OMAiYECATYR.
OrthoDBiEOG091G02D9.
PhylomeDBiQ5VTJ3.
TreeFamiTF328485.

Miscellaneous databases

GenomeRNAii127707.
PROiQ5VTJ3.

Gene expression databases

BgeeiENSG00000179023.
CleanExiHS_KLHDC7A.
GenevisibleiQ5VTJ3. HS.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF01344. Kelch_1. 2 hits.
[Graphical view]
SMARTiSM00612. Kelch. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKLD7A_HUMAN
AccessioniPrimary (citable) accession number: Q5VTJ3
Secondary accession number(s): Q8N8W6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 26, 2009
Last modified: November 2, 2016
This is version 100 of the entry and version 5 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. 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.