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Q8IXQ5

- KLHL7_HUMAN

UniProt

Q8IXQ5 - KLHL7_HUMAN

Protein

Kelch-like protein 7

Gene

KLHL7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiQ8IXQ5.
    BgeeiQ8IXQ5.
    CleanExiHS_KLHL7.
    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. 6 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 – 2986
    Beta strandi305 – 3095
    Turni311 – 3133
    Beta strandi316 – 3183
    Beta strandi330 – 3345
    Beta strandi337 – 3415
    Beta strandi344 – 3485
    Beta strandi351 – 3566
    Turni357 – 3604
    Beta strandi361 – 3666
    Beta strandi376 – 3805
    Beta strandi383 – 3875
    Beta strandi400 – 4045
    Turni405 – 4084
    Beta strandi409 – 4135
    Beta strandi424 – 4285
    Beta strandi431 – 4355
    Beta strandi438 – 4403
    Turni442 – 4443
    Beta strandi451 – 4555
    Turni456 – 4594
    Beta strandi460 – 4645
    Beta strandi475 – 4795
    Beta strandi482 – 4865
    Beta strandi493 – 4953
    Beta strandi498 – 5025
    Turni503 – 5064
    Beta strandi507 – 5104
    Beta strandi522 – 5265
    Beta strandi529 – 5346
    Beta strandi538 – 5414
    Beta strandi544 – 5496
    Turni550 – 5534
    Beta strandi554 – 5629
    Beta strandi570 – 5756

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MAASGVEKSS KKKTEKKLAA REEAKLLAGF MGVMNNMRKQ KTLCDVILMV    50
    QERKIPAHRV VLAAASHFFN LMFTTNMLES KSFEVELKDA EPDIIEQLVE 100
    FAYTARISVN SNNVQSLLDA ANQYQIEPVK KMCVDFLKEQ VDASNCLGIS 150
    VLAECLDCPE LKATADDFIH QHFTEVYKTD EFLQLDVKRV THLLNQDTLT 200
    VRAEDQVYDA AVRWLKYDEP NRQPFMVDIL AKVRFPLISK NFLSKTVQAE 250
    PLIQDNPECL KMVISGMRYH LLSPEDREEL VDGTRPRRKK HDYRIALFGG 300
    SQPQSCRYFN PKDYSWTDIR CPFEKRRDAA CVFWDNVVYI LGGSQLFPIK 350
    RMDCYNVVKD SWYSKLGPPT PRDSLAACAA EGKIYTSGGS EVGNSALYLF 400
    ECYDTRTESW HTKPSMLTQR CSHGMVEANG LIYVCGGSLG NNVSGRVLNS 450
    CEVYDPATET WTELCPMIEA RKNHGLVFVK DKIFAVGGQN GLGGLDNVEY 500
    YDIKLNEWKM VSPMPWKGVT VKCAAVGSIV YVLAGFQGVG RLGHILEYNT 550
    ETDKWVANSK VRAFPVTSCL ICVVDTCGAN EETLET 586
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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. 6 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.
    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

    ArrayExpressi Q8IXQ5.
    Bgeei Q8IXQ5.
    CleanExi HS_KLHL7.
    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

    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: October 1, 2014
    This is version 109 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