KLD7A_HUMAN
ID KLD7A_HUMAN Reviewed; 777 AA.
AC Q5VTJ3; Q8N8W6;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 26-MAY-2009, sequence version 5.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Kelch domain-containing protein 7A;
GN Name=KLHDC7A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 131-777, AND VARIANTS ASN-273 AND
RP PRO-351.
RC TISSUE=Kidney;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-365, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04695.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL591896; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK096072; BAC04695.1; ALT_INIT; mRNA.
DR CCDS; CCDS185.2; -.
DR RefSeq; NP_689588.2; NM_152375.2.
DR AlphaFoldDB; Q5VTJ3; -.
DR SMR; Q5VTJ3; -.
DR BioGRID; 126080; 1.
DR STRING; 9606.ENSP00000383505; -.
DR GlyGen; Q5VTJ3; 1 site.
DR iPTMnet; Q5VTJ3; -.
DR PhosphoSitePlus; Q5VTJ3; -.
DR BioMuta; KLHDC7A; -.
DR DMDM; 238054405; -.
DR EPD; Q5VTJ3; -.
DR jPOST; Q5VTJ3; -.
DR MassIVE; Q5VTJ3; -.
DR MaxQB; Q5VTJ3; -.
DR PaxDb; Q5VTJ3; -.
DR PeptideAtlas; Q5VTJ3; -.
DR PRIDE; Q5VTJ3; -.
DR ProteomicsDB; 65333; -.
DR Antibodypedia; 64774; 5 antibodies from 5 providers.
DR DNASU; 127707; -.
DR Ensembl; ENST00000400664.3; ENSP00000383505.1; ENSG00000179023.9.
DR GeneID; 127707; -.
DR KEGG; hsa:127707; -.
DR MANE-Select; ENST00000400664.3; ENSP00000383505.1; NM_152375.3; NP_689588.2.
DR UCSC; uc001bax.4; human.
DR CTD; 127707; -.
DR DisGeNET; 127707; -.
DR GeneCards; KLHDC7A; -.
DR HGNC; HGNC:26791; KLHDC7A.
DR HPA; ENSG00000179023; Tissue enhanced (kidney).
DR neXtProt; NX_Q5VTJ3; -.
DR OpenTargets; ENSG00000179023; -.
DR PharmGKB; PA142671581; -.
DR VEuPathDB; HostDB:ENSG00000179023; -.
DR eggNOG; KOG1072; Eukaryota.
DR GeneTree; ENSGT00940000162724; -.
DR HOGENOM; CLU_020313_1_0_1; -.
DR InParanoid; Q5VTJ3; -.
DR OMA; EQRWWAG; -.
DR OrthoDB; 594274at2759; -.
DR PhylomeDB; Q5VTJ3; -.
DR TreeFam; TF328485; -.
DR PathwayCommons; Q5VTJ3; -.
DR BioGRID-ORCS; 127707; 14 hits in 1069 CRISPR screens.
DR ChiTaRS; KLHDC7A; human.
DR GenomeRNAi; 127707; -.
DR Pharos; Q5VTJ3; Tdark.
DR PRO; PR:Q5VTJ3; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5VTJ3; protein.
DR Bgee; ENSG00000179023; Expressed in secondary oocyte and 70 other tissues.
DR Genevisible; Q5VTJ3; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 2.120.10.80; -; 1.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR Pfam; PF01344; Kelch_1; 2.
DR SMART; SM00612; Kelch; 2.
DR SUPFAM; SSF117281; SSF117281; 1.
PE 1: Evidence at protein level;
KW Glycoprotein; Kelch repeat; Membrane; Phosphoprotein; Reference proteome;
KW Repeat; Transmembrane; Transmembrane helix.
FT CHAIN 1..777
FT /note="Kelch domain-containing protein 7A"
FT /id="PRO_0000285085"
FT TRANSMEM 21..38
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REPEAT 328..374
FT /note="Kelch 1"
FT REPEAT 492..538
FT /note="Kelch 2"
FT REPEAT 541..589
FT /note="Kelch 3"
FT REPEAT 590..632
FT /note="Kelch 4"
FT REPEAT 635..677
FT /note="Kelch 5"
FT REGION 43..207
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 313..359
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 135..150
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 86
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2APT9"
FT MOD_RES 365
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT CARBOHYD 257
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 21
FT /note="V -> L (in dbSNP:rs7512414)"
FT /id="VAR_056126"
FT VARIANT 94
FT /note="G -> S (in dbSNP:rs34976233)"
FT /id="VAR_061341"
FT VARIANT 141
FT /note="P -> R (in dbSNP:rs2992755)"
FT /id="VAR_061342"
FT VARIANT 147
FT /note="T -> P (in dbSNP:rs2992752)"
FT /id="VAR_031913"
FT VARIANT 160
FT /note="R -> S (in dbSNP:rs11261022)"
FT /id="VAR_059441"
FT VARIANT 194
FT /note="R -> P (in dbSNP:rs7515150)"
FT /id="VAR_056127"
FT VARIANT 273
FT /note="H -> N (in dbSNP:rs2992753)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_031914"
FT VARIANT 351
FT /note="T -> P (in dbSNP:rs2992752)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_059442"
SQ SEQUENCE 777 AA; 84479 MW; 463A358331D3E845 CRC64;
MFPRGAEAQD WHLDMQLTGK VVLSAAALLL VTVAYRLYKS RPAPAQRWGG NGQAEAKEEA
EGSGQPAVQE ASPGVLLRGP RRRRSSKRAE APQGCSCENP RGPYVLVTGA TSTDRKPQRK
GSGEERGGQG SDSEQVPPCC PSQETRTAVG SNPDPPHFPR LGSEPKSSPA GLIAAADGSC
AGGEPSPWQD SKPREHPGLG QLEPPHCHYV APLQGSSDMN QSWVFTRVIG VSREEAGALE
AASDVDLTLH QQEGAPNSSY TFSSIARVRM EEHFIQKAEG VEPRLKGKVY DYYVESTSQA
IFQGRLAPRT AALTEVPSPR PPPGSLGTGA ASGGQAGDTK GAAERAASPQ TGPWPSTRGF
SRKESLLQIA ENPELQLQPD GFRLPAPPCP DPGALPGLGR SSREPHVQPV AGTNFFHIPL
TPASAPQVRL DLGNCYEVLT LAKRQNLEAL KEAAYKVMSE NYLQVLRSPD IYGCLSGAER
ELILQRRLRG RQYLVVADVC PKEDSGGLCC YDDEQDVWRP LARMPPEAVS RGCAICSLFN
YLFVVSGCQG PGHQPSSRVF CYNPLTGIWS EVCPLNQARP HCRLVALDGH LYAIGGECLN
SVERYDPRLD RWDFAPPLPS DTFALAHTAT VRAKEIFVTG GSLRFLLFRF SAQEQRWWAG
PTGGSKDRTA EMVAVNGFLY RFDLNRSLGI AVYRCSASTR LWYECATYRT PYPDAFQCAV
VDNLIYCVGR RSTLCFLADS VSPRFVPKEL RSFPAPQGTL LPTVLTLPTP DLPQTRV
