LOCUS       NP_001026880             586 aa            linear   PRI 28-APR-2025
DEFINITION  kelch-like protein 7 isoform 1 [Homo sapiens].
ACCESSION   NP_001026880
VERSION     NP_001026880.2
DBSOURCE    REFSEQ: accession NM_001031710.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 586)
  AUTHORS   Yilmaz Gulec,E., Turgut,G.T., Gezdirici,A., Karaman,V.,
            Ozturk,F.N., Avci,S., Kalayci,T., Senturk,L., Ayaz,A.,
            Kayserili,H., Uyguner,Z.O. and Altunoglu,U.
  TITLE     Clinical and molecular genetic findings of Crisponi/cold-induced
            sweating syndrome (CS/CISS) spectrum in patients from Turkey
  JOURNAL   Clin Genet 102 (3), 201-217 (2022)
   PUBMED   35699517
  REMARK    GeneRIF: Clinical and molecular genetic findings of
            Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in
            patients from Turkey.
REFERENCE   2  (residues 1 to 586)
  AUTHORS   Swaney,D.L., Ramms,D.J., Wang,Z., Park,J., Goto,Y., Soucheray,M.,
            Bhola,N., Kim,K., Zheng,F., Zeng,Y., McGregor,M., Herrington,K.A.,
            O'Keefe,R., Jin,N., VanLandingham,N.K., Foussard,H., Von Dollen,J.,
            Bouhaddou,M., Jimenez-Morales,D., Obernier,K., Kreisberg,J.F.,
            Kim,M., Johnson,D.E., Jura,N., Grandis,J.R., Gutkind,J.S.,
            Ideker,T. and Krogan,N.J.
  TITLE     A protein network map of head and neck cancer reveals PIK3CA mutant
            drug sensitivity
  JOURNAL   Science 374 (6563), eabf2911 (2021)
   PUBMED   34591642
REFERENCE   3  (residues 1 to 586)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (residues 1 to 586)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 586)
  AUTHORS   Kigoshi,Y., Tsuruta,F. and Chiba,T.
  TITLE     Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by
            autosomal dominant retinitis pigmentosa causative mutation
  JOURNAL   J Biol Chem 286 (38), 33613-33621 (2011)
   PUBMED   21828050
  REMARK    GeneRIF: KLHL7 forms a dimer, assembles with Cul3 through its BTB
            and BACK domains, and exerts E3 activity.
REFERENCE   6  (residues 1 to 586)
  AUTHORS   Bennett,E.J., Rush,J., Gygi,S.P. and Harper,J.W.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
REFERENCE   7  (residues 1 to 586)
  AUTHORS   Hugosson,T., Friedman,J.S., Ponjavic,V., Abrahamson,M., Swaroop,A.
            and Andreasson,S.
  TITLE     Phenotype associated with mutation in the recently identified
            autosomal dominant retinitis pigmentosa KLHL7 gene
  JOURNAL   Arch Ophthalmol 128 (6), 772-778 (2010)
   PUBMED   20547956
  REMARK    GeneRIF: Observed in 2 Scandinavian families to date, KLHL7
            mutation has recently been associated with autosomal dominant
            retinitis pigmentosa.
REFERENCE   8  (residues 1 to 586)
  AUTHORS   Friedman,J.S., Ray,J.W., Waseem,N., Johnson,K., Brooks,M.J.,
            Hugosson,T., Breuer,D., Branham,K.E., Krauth,D.S., Bowne,S.J.,
            Sullivan,L.S., Ponjavic,V., Granse,L., Khanna,R., Trager,E.H.,
            Gieser,L.M., Hughbanks-Wheaton,D., Cojocaru,R.I., Ghiasvand,N.M.,
            Chakarova,C.F., Abrahamson,M., Goring,H.H., Webster,A.R.,
            Birch,D.G., Abecasis,G.R., Fann,Y., Bhattacharya,S.S., Daiger,S.P.,
            Heckenlively,J.R., Andreasson,S. and Swaroop,A.
  TITLE     Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant
            retinitis pigmentosa
  JOURNAL   Am J Hum Genet 84 (6), 792-800 (2009)
   PUBMED   19520207
  REMARK    GeneRIF: Mutations in a BTB-Kelch protein, KLHL7, cause
            autosomal-dominant retinitis pigmentosa.
REFERENCE   9  (residues 1 to 586)
  AUTHORS   Bredholt,G., Storstein,A., Haugen,M., Krossnes,B.K., Husebye,E.,
            Knappskog,P. and Vedeler,C.A.
  TITLE     Detection of autoantibodies to the BTB-kelch protein KLHL7 in
            cancer sera
  JOURNAL   Scand J Immunol 64 (3), 325-335 (2006)
   PUBMED   16918702
  REMARK    GeneRIF: The present results indicate that KLHL7 antibodies are
            associated with various cancers, and in some patients also with
            neurological disease. Whether KLHL7 antibodies can be used as
            paraneoplastic markers for PNS remains to be determined.
REFERENCE   10 (residues 1 to 586)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC370850.1, AK290479.1,
            AK056390.1, BC039585.1 and AC005082.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 26, 2008 this sequence version replaced NP_001026880.1.
            
            Summary: This gene encodes a BTB-Kelch-related protein. The encoded
            protein may be involved in protein degradation. Mutations in this
            gene have been associated with retinitis pigmentosa 42. [provided
            by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.48226.1,
                                           SRR1660807.189431.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339077.10/ ENSP00000343273.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
     Protein         1..586
                     /product="kelch-like protein 7 isoform 1"
                     /note="kelch-like 6; kelch-like protein 7; kelch/BTB;
                     kelch-like 7"
                     /calculated_mol_wt=65861
     Region          23..148
                     /region_name="BTB_POZ_KLHL7"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in Kelch-like
                     protein 7 (KLHL7); cd18237"
                     /db_xref="CDD:349546"
     Region          37..555
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          140..237
                     /region_name="BACK_KLHL7"
                     /note="BACK (BTB and C-terminal Kelch) domain found in
                     Kelch-like protein 7 (KLHL7); cd18447"
                     /db_xref="CDD:350522"
     Region          294..336
                     /region_name="Kelch 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2)"
     Region          337..382
                     /region_name="Kelch 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2)"
     Region          372..416
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          383..430
                     /region_name="Kelch 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2)"
     Region          420..468
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          431..481
                     /region_name="Kelch 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2)"
     Region          471..515
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          483..528
                     /region_name="Kelch 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2)"
     Region          530..575
                     /region_name="Kelch 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2)"
     CDS             1..586
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /coded_by="NM_001031710.3:243..2003"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS34609.1"
                     /db_xref="GeneID:55975"
                     /db_xref="HGNC:HGNC:15646"
                     /db_xref="MIM:611119"
ORIGIN      
        1 maasgvekss kkktekklaa reeakllagf mgvmnnmrkq ktlcdvilmv qerkipahrv
       61 vlaaashffn lmfttnmles ksfevelkda epdiieqlve faytarisvn snnvqsllda
      121 anqyqiepvk kmcvdflkeq vdasnclgis vlaecldcpe lkataddfih qhftevyktd
      181 eflqldvkrv thllnqdtlt vraedqvyda avrwlkydep nrqpfmvdil akvrfplisk
      241 nflsktvqae pliqdnpecl kmvisgmryh llspedreel vdgtrprrkk hdyrialfgg
      301 sqpqscryfn pkdyswtdir cpfekrrdaa cvfwdnvvyi lggsqlfpik rmdcynvvkd
      361 swysklgppt prdslaacaa egkiytsggs evgnsalylf ecydtrtesw htkpsmltqr
      421 cshgmveang liyvcggslg nnvsgrvlns cevydpatet wtelcpmiea rknhglvfvk
      481 dkifavggqn glggldnvey ydiklnewkm vspmpwkgvt vkcaavgsiv yvlagfqgvg
      541 rlghileynt etdkwvansk vrafpvtscl icvvdtcgan eetlet
//
