K0825_HUMAN
ID K0825_HUMAN Reviewed; 1275 AA.
AC Q8IV33; A0A088AWM3; O94914; Q6ZNN2;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-JUN-2018, sequence version 3.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Uncharacterized protein KIAA0825;
GN Name=KIAA0825; Synonyms=C5orf36;
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].
RC TISSUE=Brain;
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 864-1021 (ISOFORM 1).
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 386-1275 (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=10048485; DOI=10.1093/dnares/5.6.355;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:355-364(1998).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1041-1275.
RC TISSUE=Uterus;
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 [6]
RP INVOLVEMENT IN PAPA10, AND VARIANT PAPA10 725-LYS--GLN-1275 DEL.
RX PubMed=30982135; DOI=10.1007/s00439-019-02000-0;
RA Ullah I., Kakar N., Schrauwen I., Hussain S., Chakchouk I., Liaqat K.,
RA Acharya A., Wasif N., Santos-Cortez R.L.P., Khan S., Aziz A., Lee K.,
RA Couthouis J., Horn D., Kragesteen B.K., Spielmann M., Thiele H.,
RA Nickerson D.A., Bamshad M.J., Gitler A.D., Ahmad J., Ansar M., Borck G.,
RA Ahmad W., Leal S.M.;
RT "Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.";
RL Hum. Genet. 138:593-600(2019).
CC -!- INTERACTION:
CC Q8IV33; O75190-2: DNAJB6; NbExp=3; IntAct=EBI-17702098, EBI-12593112;
CC Q8IV33; O14964: HGS; NbExp=3; IntAct=EBI-17702098, EBI-740220;
CC Q8IV33; O14901: KLF11; NbExp=3; IntAct=EBI-17702098, EBI-948266;
CC Q8IV33; Q96CV9: OPTN; NbExp=3; IntAct=EBI-17702098, EBI-748974;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8IV33-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IV33-2; Sequence=VSP_039414, VSP_039415;
CC Name=3;
CC IsoId=Q8IV33-3; Sequence=VSP_039416, VSP_039417, VSP_039418;
CC -!- DISEASE: Polydactyly, postaxial, A10 (PAPA10) [MIM:618498]: A form of
CC postaxial polydactyly, a condition characterized by the occurrence of
CC supernumerary digits in the upper and/or lower extremities. In
CC postaxial polydactyly type A, the extra digit is well-formed and
CC articulates with the fifth or a sixth metacarpal/metatarsal. PAPA10 is
CC an autosomal recessive condition characterized by one or more postaxial
CC digits of the hands and/or feet. A rudimentary digit (PAP type B) may
CC also be present. Intrafamilial variability has been observed.
CC {ECO:0000269|PubMed:30982135}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85469.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BF514032; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
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DR EMBL; AC010448; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC025766; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093311; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104127; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC117521; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC117528; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471084; EAW96025.1; -; Genomic_DNA.
DR EMBL; BC035515; AAH35515.1; -; mRNA.
DR EMBL; BF514032; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AB020632; BAA74848.1; -; mRNA.
DR EMBL; AK130941; BAC85469.1; ALT_INIT; mRNA.
DR CCDS; CCDS4070.1; -. [Q8IV33-2]
DR RefSeq; NP_775936.1; NM_173665.2. [Q8IV33-2]
DR RefSeq; XP_016864865.1; XM_017009376.1. [Q8IV33-2]
DR RefSeq; XP_016864866.1; XM_017009377.1. [Q8IV33-2]
DR AlphaFoldDB; Q8IV33; -.
DR BioGRID; 130154; 7.
DR IntAct; Q8IV33; 4.
DR STRING; 9606.ENSP00000331385; -.
DR GlyGen; Q8IV33; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IV33; -.
DR PhosphoSitePlus; Q8IV33; -.
DR BioMuta; KIAA0825; -.
DR DMDM; 300669631; -.
DR EPD; Q8IV33; -.
DR MassIVE; Q8IV33; -.
DR MaxQB; Q8IV33; -.
DR PaxDb; Q8IV33; -.
DR PeptideAtlas; Q8IV33; -.
DR PRIDE; Q8IV33; -.
DR ProteomicsDB; 70647; -. [Q8IV33-1]
DR ProteomicsDB; 70648; -. [Q8IV33-2]
DR ProteomicsDB; 70649; -. [Q8IV33-3]
DR Antibodypedia; 24939; 41 antibodies from 12 providers.
DR DNASU; 285600; -.
DR Ensembl; ENST00000329378.7; ENSP00000331385.6; ENSG00000185261.15. [Q8IV33-2]
DR Ensembl; ENST00000513200.7; ENSP00000424618.2; ENSG00000185261.15. [Q8IV33-1]
DR GeneID; 285600; -.
DR KEGG; hsa:285600; -.
DR UCSC; uc003kkp.3; human. [Q8IV33-1]
DR CTD; 285600; -.
DR DisGeNET; 285600; -.
DR GeneCards; KIAA0825; -.
DR HGNC; HGNC:28532; KIAA0825.
DR HPA; ENSG00000185261; Low tissue specificity.
DR MalaCards; KIAA0825; -.
DR MIM; 617266; gene.
DR MIM; 618498; phenotype.
DR neXtProt; NX_Q8IV33; -.
DR OpenTargets; ENSG00000185261; -.
DR Orphanet; 93334; Postaxial polydactyly type A.
DR PharmGKB; PA162380116; -.
DR VEuPathDB; HostDB:ENSG00000185261; -.
DR eggNOG; ENOG502QUZJ; Eukaryota.
DR GeneTree; ENSGT00610000086112; -.
DR HOGENOM; CLU_074367_0_0_1; -.
DR InParanoid; Q8IV33; -.
DR OMA; FDTCDNL; -.
DR OrthoDB; 197785at2759; -.
DR PhylomeDB; Q8IV33; -.
DR TreeFam; TF332563; -.
DR PathwayCommons; Q8IV33; -.
DR SignaLink; Q8IV33; -.
DR BioGRID-ORCS; 285600; 15 hits in 1074 CRISPR screens.
DR ChiTaRS; KIAA0825; human.
DR GenomeRNAi; 285600; -.
DR Pharos; Q8IV33; Tdark.
DR PRO; PR:Q8IV33; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8IV33; protein.
DR Bgee; ENSG00000185261; Expressed in adrenal tissue and 114 other tissues.
DR Genevisible; Q8IV33; HS.
DR InterPro; IPR027993; DUF4495.
DR PANTHER; PTHR33960; PTHR33960; 1.
DR Pfam; PF14906; DUF4495; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Reference proteome.
FT CHAIN 1..1275
FT /note="Uncharacterized protein KIAA0825"
FT /id="PRO_0000316781"
FT VAR_SEQ 324
FT /note="V -> G (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039414"
FT VAR_SEQ 325..1275
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039415"
FT VAR_SEQ 833
FT /note="K -> KRTFQE (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10048485"
FT /id="VSP_039416"
FT VAR_SEQ 888..933
FT /note="VSTCVEYELEVIRCLRLALTDAIKDTVQQIVSVMSSRRNCETNLNK -> GM
FT RHLLFVKEMFYRYLYVPLKMFRSCIDTGFAESVVGESLPYIFSV (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:10048485"
FT /id="VSP_039417"
FT VAR_SEQ 934..1275
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10048485"
FT /id="VSP_039418"
FT VARIANT 46
FT /note="K -> E (in dbSNP:rs2044909)"
FT /id="VAR_038391"
FT VARIANT 725..1275
FT /note="Missing (in PAPA10)"
FT /evidence="ECO:0000269|PubMed:30982135"
FT /id="VAR_083052"
FT CONFLICT 1106
FT /note="K -> E (in Ref. 5; BAC85469)"
FT /evidence="ECO:0000305"
FT CONFLICT 1271
FT /note="N -> D (in Ref. 5; BAC85469)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1275 AA; 147735 MW; F3BD1E0FEEA43ED8 CRC64;
MDWDDEYSHN SFDLHCLLNS FPGDLEFEQI FSDIDEKIEQ NAASIKHCIK EIQSEINKQC
PGVQLQTTTD CFEWLTNYNY STSESSFISH GDLIKFFKTL QDLLKNEQNQ EEMTLDLLWD
LSCHSSVSFP STLSGTSFHF LSRTSLHSVE DNSSMDVKSM WDDIRLHLRR FLVSKLQSHN
EINNSQQKIL LKKQCLQQLL FLYPESEVII KYQNIQNKLL ANLLWNCFPS YNRDSNLDVI
AHGYQSTMLK LYSVIKEDFN TLCEILAPSS MVKFIKETYL DTVTEEMAKF LENFCELQFR
ENAVRVVKTS KSSSKHRGAV HALVTTECPQ KGRNFSLPLD KVEFLSQLIK SFMKLEKGVQ
ELFDEILLSL KITRDTSGIL EKSDREVVME KPRANETNIP SEQSLPGKEA TLLDFGWRSA
FKEVSLPMAH CVVTAIEGFS TKILQQEQNE RSSAVSYAMN LVNVQQVWQD SHMFPEEEQP
KKIGKFCSDI MEKLDTMLPL ALACRDDSFQ EIRANLVEAC CKVATAVLQR LQERAKEVPS
KAPLKNLHTY LSTAVYVFQH FKRYDNLMKE MTKKPIFLVL VQRYQEFINT LQFQVTNYCV
RVCATSILQD AESHHWDDYK AFYEGERCSF SIQMWHYFCW SLHYDLWTIL PPKLAQEILV
EVLEKSLSLL ASRYARAHPS RKRTPQLRLD VTTILICTEN MLWSVCTSVQ KLLNPHQHTD
DKIFKIHTHC NNLFTTLVIL TSPLTELYKT FQHGLDESAS DSLKSFFKQP LYWVSCISHF
YPSLLRTPSA GGLKAEGQLK LLLSQPRCNW NLLLETLLHH DGLLLRILLK SSKQVSDTEN
NLNQGPSLME AIFKILYHCS FSPQTFANVF VSYMEEEQLW DFLYNIPVST CVEYELEVIR
CLRLALTDAI KDTVQQIVSV MSSRRNCETN LNKHIVPDCL LESMPKEWNY SPKETNRKES
CKSFTRLTAQ AVSIVISKLP TVIACLPPPV KYFFFLSERK MSKKFVELKK AGLLVWNLIV
IICRIFEDGN TVELLTGASL DRWSKEKLGL ICMCLKSIMG DQTSIHNQMI QKVIQSIEQQ
KPNWIERQLL KARKLSTECA FMTIEKSTAL QEGDVALELT EQKINTMVLD LCHKPGGREY
LRQIYHIMQL NEEYLKEQLF SMNSSEEKPL PIRPLKTTLR SIEDQPSAFN PFHVYKAFSE
NMLDQSAITK WNWNWAKLLP NYLRLDKMTF SVLLKNRWEM KKDETLEEEE KAILEHLKQI
CTPQNSSASD NIEEQ
