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Q8IXQ5

- KLHL7_HUMAN

UniProt

Q8IXQ5 - KLHL7_HUMAN

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Protein

Kelch-like protein 7

Gene

KLHL7

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

Functioni

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination.1 Publication

Pathwayi

GO - Molecular functioni

  1. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. protein ubiquitination Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch-like protein 7
Gene namesi
Name:KLHL7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:15646. KLHL7.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. Cul3-RING ubiquitin ligase complex Source: UniProtKB
  2. cytoplasm Source: HPA
  3. nucleolus Source: LIFEdb
  4. nucleus Source: HPA
  5. plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 42 (RP42) [MIM:612943]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501S → N in RP42. 2 Publications
VAR_060672
Natural varianti153 – 1531A → T in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 2 Publications
VAR_060673
Natural varianti153 – 1531A → V in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 3 Publications
VAR_060674

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi612943. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA38392.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 586586Kelch-like protein 7PRO_0000228988Add
BLAST

Proteomic databases

MaxQBiQ8IXQ5.
PaxDbiQ8IXQ5.
PRIDEiQ8IXQ5.

PTM databases

PhosphoSiteiQ8IXQ5.

Expressioni

Tissue specificityi

Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis.1 Publication

Gene expression databases

BgeeiQ8IXQ5.
CleanExiHS_KLHL7.
ExpressionAtlasiQ8IXQ5. baseline and differential.
GenevestigatoriQ8IXQ5.

Organism-specific databases

HPAiHPA029491.
HPA029492.

Interactioni

Subunit structurei

Homodimer. Component of the BCR(KLHL7) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL7 and RBX1.1 Publication

Protein-protein interaction databases

BioGridi121021. 8 interactions.
IntActiQ8IXQ5. 1 interaction.
MINTiMINT-4718705.
STRINGi9606.ENSP00000343273.

Structurei

Secondary structure

1
586
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi293 – 2986Combined sources
Beta strandi305 – 3095Combined sources
Turni311 – 3133Combined sources
Beta strandi316 – 3183Combined sources
Beta strandi330 – 3345Combined sources
Beta strandi337 – 3415Combined sources
Beta strandi344 – 3485Combined sources
Beta strandi351 – 3566Combined sources
Turni357 – 3604Combined sources
Beta strandi361 – 3666Combined sources
Beta strandi376 – 3805Combined sources
Beta strandi383 – 3875Combined sources
Beta strandi400 – 4045Combined sources
Turni405 – 4084Combined sources
Beta strandi409 – 4135Combined sources
Beta strandi424 – 4285Combined sources
Beta strandi431 – 4355Combined sources
Beta strandi438 – 4403Combined sources
Turni442 – 4443Combined sources
Beta strandi451 – 4555Combined sources
Turni456 – 4594Combined sources
Beta strandi460 – 4645Combined sources
Beta strandi475 – 4795Combined sources
Beta strandi482 – 4865Combined sources
Beta strandi493 – 4953Combined sources
Beta strandi498 – 5025Combined sources
Turni503 – 5064Combined sources
Beta strandi507 – 5104Combined sources
Beta strandi522 – 5265Combined sources
Beta strandi529 – 5346Combined sources
Beta strandi538 – 5414Combined sources
Beta strandi544 – 5496Combined sources
Turni550 – 5534Combined sources
Beta strandi554 – 5629Combined sources
Beta strandi570 – 5756Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3II7X-ray1.63A283-586[»]
ProteinModelPortaliQ8IXQ5.
SMRiQ8IXQ5. Positions 33-275, 290-577.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8IXQ5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini44 – 11168BTBPROSITE-ProRule annotationAdd
BLAST
Domaini146 – 248103BACKAdd
BLAST
Repeati294 – 33643Kelch 1Add
BLAST
Repeati337 – 38246Kelch 2Add
BLAST
Repeati383 – 43048Kelch 3Add
BLAST
Repeati431 – 48151Kelch 4Add
BLAST
Repeati483 – 52846Kelch 5Add
BLAST
Repeati530 – 57546Kelch 6Add
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 6 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiNOG305745.
GeneTreeiENSGT00760000119153.
HOGENOMiHOG000230816.
HOVERGENiHBG106113.
InParanoidiQ8IXQ5.
KOiK10445.
OMAiSVEYYDI.
OrthoDBiEOG7K0ZBN.
PhylomeDBiQ8IXQ5.
TreeFamiTF351653.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProiIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR017096. Kelch-like_gigaxonin-typ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 3 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IXQ5-1) [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
MAASGVEKSS KKKTEKKLAA REEAKLLAGF MGVMNNMRKQ KTLCDVILMV
60 70 80 90 100
QERKIPAHRV VLAAASHFFN LMFTTNMLES KSFEVELKDA EPDIIEQLVE
110 120 130 140 150
FAYTARISVN SNNVQSLLDA ANQYQIEPVK KMCVDFLKEQ VDASNCLGIS
160 170 180 190 200
VLAECLDCPE LKATADDFIH QHFTEVYKTD EFLQLDVKRV THLLNQDTLT
210 220 230 240 250
VRAEDQVYDA AVRWLKYDEP NRQPFMVDIL AKVRFPLISK NFLSKTVQAE
260 270 280 290 300
PLIQDNPECL KMVISGMRYH LLSPEDREEL VDGTRPRRKK HDYRIALFGG
310 320 330 340 350
SQPQSCRYFN PKDYSWTDIR CPFEKRRDAA CVFWDNVVYI LGGSQLFPIK
360 370 380 390 400
RMDCYNVVKD SWYSKLGPPT PRDSLAACAA EGKIYTSGGS EVGNSALYLF
410 420 430 440 450
ECYDTRTESW HTKPSMLTQR CSHGMVEANG LIYVCGGSLG NNVSGRVLNS
460 470 480 490 500
CEVYDPATET WTELCPMIEA RKNHGLVFVK DKIFAVGGQN GLGGLDNVEY
510 520 530 540 550
YDIKLNEWKM VSPMPWKGVT VKCAAVGSIV YVLAGFQGVG RLGHILEYNT
560 570 580
ETDKWVANSK VRAFPVTSCL ICVVDTCGAN EETLET
Length:586
Mass (Da):65,992
Last modified:October 17, 2006 - v2
Checksum:iFA4ED8F1567AC7A8
GO
Isoform 2 (identifier: Q8IXQ5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQ → MLGGTDCRTFLTSHINLK

Show »
Length:564
Mass (Da):63,601
Checksum:iD5FFE152DEA3D63E
GO
Isoform 3 (identifier: Q8IXQ5-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-166: ISVLAECLDCPELKATAD → EAEKVDQSLPECGMLFTV
     167-586: Missing.

Show »
Length:166
Mass (Da):18,568
Checksum:iD48BE4F0B94F1386
GO
Isoform 4 (identifier: Q8IXQ5-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQ → MLGGTDCRTFLTSHINLK
     149-166: ISVLAECLDCPELKATAD → EAEKVDQSLPECGMLFTV
     167-586: Missing.

Show »
Length:144
Mass (Da):16,177
Checksum:i90CD7ACD869455D7
GO
Isoform 5 (identifier: Q8IXQ5-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: Missing.

Show »
Length:538
Mass (Da):60,725
Checksum:i8B7ABA54C28D56C1
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti85 – 851V → L in AAH39585. (PubMed:15489334)Curated
Sequence conflicti138 – 1381K → R in BAB71175. (PubMed:14702039)Curated
Sequence conflicti507 – 5071E → D in BAH12925. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501S → N in RP42. 2 Publications
VAR_060672
Natural varianti153 – 1531A → T in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 2 Publications
VAR_060673
Natural varianti153 – 1531A → V in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 3 Publications
VAR_060674
Natural varianti255 – 2551D → N in a patient with retinitis pigmentosa; uncertain pathological significance. 1 Publication
VAR_060675
Natural varianti423 – 4231H → Y.1 Publication
VAR_060676
Natural varianti472 – 4721K → Q in a patient with retinitis pigmentosa; uncertain pathological significance. 1 Publication
VAR_060677
Isoform 2 (identifier: Q8IXQ5-2)
Natural varianti18 – 181K → R.
Corresponds to variant rs17147682 [ dbSNP | Ensembl ].

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4848Missing in isoform 5. 1 PublicationVSP_046974Add
BLAST
Alternative sequencei1 – 4040MAASG…NMRKQ → MLGGTDCRTFLTSHINLK in isoform 2 and isoform 4. 3 PublicationsVSP_038416Add
BLAST
Alternative sequencei149 – 16618ISVLA…KATAD → EAEKVDQSLPECGMLFTV in isoform 3 and isoform 4. 2 PublicationsVSP_038417Add
BLAST
Alternative sequencei167 – 586420Missing in isoform 3 and isoform 4. 2 PublicationsVSP_038418Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF111113 mRNA. Translation: AAF27196.1.
AL136597 mRNA. Translation: CAB66532.1.
AK056390 mRNA. Translation: BAB71175.1.
AK299006 mRNA. Translation: BAH12925.1.
EF560731 mRNA. Translation: ABQ59041.1.
AC005082 Genomic DNA. No translation available.
AC006039 Genomic DNA. Translation: AAO21916.1.
AC073992 Genomic DNA. No translation available.
CH236948 Genomic DNA. Translation: EAL24261.1.
CH471073 Genomic DNA. Translation: EAW93770.1.
CH471073 Genomic DNA. Translation: EAW93773.1.
CH471073 Genomic DNA. Translation: EAW93774.1.
BC009555 mRNA. Translation: AAH09555.1.
BC039585 mRNA. Translation: AAH39585.1.
CCDSiCCDS34609.1. [Q8IXQ5-1]
CCDS5378.2. [Q8IXQ5-5]
CCDS55095.1. [Q8IXQ5-3]
RefSeqiNP_001026880.2. NM_001031710.2. [Q8IXQ5-1]
NP_001165899.1. NM_001172428.1. [Q8IXQ5-3]
NP_061334.4. NM_018846.4. [Q8IXQ5-5]
UniGeneiHs.654817.

Genome annotation databases

EnsembliENST00000322275; ENSP00000323270; ENSG00000122550. [Q8IXQ5-3]
ENST00000339077; ENSP00000343273; ENSG00000122550. [Q8IXQ5-1]
ENST00000409689; ENSP00000386263; ENSG00000122550. [Q8IXQ5-5]
ENST00000410047; ENSP00000386999; ENSG00000122550. [Q8IXQ5-4]
GeneIDi55975.
KEGGihsa:55975.
UCSCiuc003svp.3. human. [Q8IXQ5-4]
uc003svq.3. human. [Q8IXQ5-3]
uc003svr.4. human. [Q8IXQ5-2]
uc003svs.4. human. [Q8IXQ5-1]

Polymorphism databases

DMDMi116242609.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF111113 mRNA. Translation: AAF27196.1 .
AL136597 mRNA. Translation: CAB66532.1 .
AK056390 mRNA. Translation: BAB71175.1 .
AK299006 mRNA. Translation: BAH12925.1 .
EF560731 mRNA. Translation: ABQ59041.1 .
AC005082 Genomic DNA. No translation available.
AC006039 Genomic DNA. Translation: AAO21916.1 .
AC073992 Genomic DNA. No translation available.
CH236948 Genomic DNA. Translation: EAL24261.1 .
CH471073 Genomic DNA. Translation: EAW93770.1 .
CH471073 Genomic DNA. Translation: EAW93773.1 .
CH471073 Genomic DNA. Translation: EAW93774.1 .
BC009555 mRNA. Translation: AAH09555.1 .
BC039585 mRNA. Translation: AAH39585.1 .
CCDSi CCDS34609.1. [Q8IXQ5-1 ]
CCDS5378.2. [Q8IXQ5-5 ]
CCDS55095.1. [Q8IXQ5-3 ]
RefSeqi NP_001026880.2. NM_001031710.2. [Q8IXQ5-1 ]
NP_001165899.1. NM_001172428.1. [Q8IXQ5-3 ]
NP_061334.4. NM_018846.4. [Q8IXQ5-5 ]
UniGenei Hs.654817.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3II7 X-ray 1.63 A 283-586 [» ]
ProteinModelPortali Q8IXQ5.
SMRi Q8IXQ5. Positions 33-275, 290-577.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121021. 8 interactions.
IntActi Q8IXQ5. 1 interaction.
MINTi MINT-4718705.
STRINGi 9606.ENSP00000343273.

PTM databases

PhosphoSitei Q8IXQ5.

Polymorphism databases

DMDMi 116242609.

Proteomic databases

MaxQBi Q8IXQ5.
PaxDbi Q8IXQ5.
PRIDEi Q8IXQ5.

Protocols and materials databases

DNASUi 55975.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000322275 ; ENSP00000323270 ; ENSG00000122550 . [Q8IXQ5-3 ]
ENST00000339077 ; ENSP00000343273 ; ENSG00000122550 . [Q8IXQ5-1 ]
ENST00000409689 ; ENSP00000386263 ; ENSG00000122550 . [Q8IXQ5-5 ]
ENST00000410047 ; ENSP00000386999 ; ENSG00000122550 . [Q8IXQ5-4 ]
GeneIDi 55975.
KEGGi hsa:55975.
UCSCi uc003svp.3. human. [Q8IXQ5-4 ]
uc003svq.3. human. [Q8IXQ5-3 ]
uc003svr.4. human. [Q8IXQ5-2 ]
uc003svs.4. human. [Q8IXQ5-1 ]

Organism-specific databases

CTDi 55975.
GeneCardsi GC07P023145.
GeneReviewsi KLHL7.
HGNCi HGNC:15646. KLHL7.
HPAi HPA029491.
HPA029492.
MIMi 611119. gene.
612943. phenotype.
neXtProti NX_Q8IXQ5.
Orphaneti 791. Retinitis pigmentosa.
PharmGKBi PA38392.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG305745.
GeneTreei ENSGT00760000119153.
HOGENOMi HOG000230816.
HOVERGENi HBG106113.
InParanoidi Q8IXQ5.
KOi K10445.
OMAi SVEYYDI.
OrthoDBi EOG7K0ZBN.
PhylomeDBi Q8IXQ5.
TreeFami TF351653.

Enzyme and pathway databases

UniPathwayi UPA00143 .

Miscellaneous databases

ChiTaRSi KLHL7. human.
EvolutionaryTracei Q8IXQ5.
GeneWikii KLHL7.
GenomeRNAii 55975.
NextBioi 61429.
PROi Q8IXQ5.
SOURCEi Search...

Gene expression databases

Bgeei Q8IXQ5.
CleanExi HS_KLHL7.
ExpressionAtlasi Q8IXQ5. baseline and differential.
Genevestigatori Q8IXQ5.

Family and domain databases

Gene3Di 2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProi IPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR017096. Kelch-like_gigaxonin-typ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view ]
Pfami PF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 3 hits.
[Graphical view ]
PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTi SM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 1 hit.
PROSITEi PS50097. BTB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Zhang W., He L., Wan T., Zhu X., Cao X.
    Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  5. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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 AND 4).
    Tissue: Pancreas and Skin.
  9. "Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera."
    Bredholt G., Storstein A., Haugen M., Krossnes B.K., Husebye E., Knappskog P., Vedeler C.A.
    Scand. J. Immunol. 64:325-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  10. "Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation."
    Kigoshi Y., Tsuruta F., Chiba T.
    J. Biol. Chem. 286:33613-33621(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN THE BCR(KLHL7) COMPLEX, HOMODIMERIZATION, CHARACTERIZATION OF VARIANTS VARIANTS RP42 THR-153 AND VAL-153.
  11. "Crystal structure of the KELCH domain of human KLHL7."
    Structural genomics consortium (SGC)
    Submitted (AUG-2009) to the PDB data bank
    Cited for: X-RAY CRYSTALLOGRAPHY (1.63 ANGSTROMS) OF 283-586.
  12. Cited for: VARIANTS RP42 ASN-150; THR-153 AND VAL-153, VARIANTS ASN-255; TYR-423 AND GLN-472, VARIANT ARG-18 (ISOFORM 2).
  13. "Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene."
    Hugosson T., Friedman J.S., Ponjavic V., Abrahamson M., Swaroop A., Andreasson S.
    Arch. Ophthalmol. 128:772-778(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP42 VAL-153.
  14. "Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7."
    Wen Y., Locke K.G., Klein M., Bowne S.J., Sullivan L.S., Ray J.W., Daiger S.P., Birch D.G., Hughbanks-Wheaton D.K.
    Arch. Ophthalmol. 129:1475-1482(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP42 ASN-150; THR-153 AND VAL-153.

Entry informationi

Entry nameiKLHL7_HUMAN
AccessioniPrimary (citable) accession number: Q8IXQ5
Secondary accession number(s): A4D144
, B7Z5I9, G5E9G3, Q7Z765, Q96MV2, Q9BQF8, Q9UDQ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: October 17, 2006
Last modified: November 26, 2014
This is version 111 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3