ANR42_HUMAN
ID ANR42_HUMAN Reviewed; 389 AA.
AC Q8N9B4; Q49A49;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Ankyrin repeat domain-containing protein 42;
GN Name=ANKRD42;
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 MRNA] (ISOFORM 1).
RC TISSUE=Substantia nigra;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9B4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9B4-2; Sequence=VSP_019559, VSP_019560, VSP_019561;
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DR EMBL; AK095193; BAC04496.1; -; mRNA.
DR EMBL; BC045621; AAH45621.1; -; mRNA.
DR CCDS; CCDS73355.1; -. [Q8N9B4-2]
DR CCDS; CCDS8265.1; -. [Q8N9B4-1]
DR RefSeq; NP_001287901.1; NM_001300972.1.
DR RefSeq; NP_001287902.1; NM_001300973.1.
DR RefSeq; NP_001287904.1; NM_001300975.1.
DR RefSeq; NP_001287905.1; NM_001300976.1.
DR RefSeq; NP_001287906.1; NM_001300977.1. [Q8N9B4-2]
DR RefSeq; NP_872409.2; NM_182603.3. [Q8N9B4-1]
DR AlphaFoldDB; Q8N9B4; -.
DR SMR; Q8N9B4; -.
DR BioGRID; 130783; 4.
DR IntAct; Q8N9B4; 2.
DR MINT; Q8N9B4; -.
DR STRING; 9606.ENSP00000377051; -.
DR iPTMnet; Q8N9B4; -.
DR PhosphoSitePlus; Q8N9B4; -.
DR BioMuta; ANKRD42; -.
DR DMDM; 116241248; -.
DR MassIVE; Q8N9B4; -.
DR MaxQB; Q8N9B4; -.
DR PaxDb; Q8N9B4; -.
DR PeptideAtlas; Q8N9B4; -.
DR PRIDE; Q8N9B4; -.
DR ProteomicsDB; 72516; -. [Q8N9B4-1]
DR ProteomicsDB; 72517; -. [Q8N9B4-2]
DR Antibodypedia; 17554; 94 antibodies from 19 providers.
DR DNASU; 338699; -.
DR Ensembl; ENST00000393389.7; ENSP00000377049.3; ENSG00000137494.14. [Q8N9B4-2]
DR Ensembl; ENST00000393392.6; ENSP00000377051.2; ENSG00000137494.14. [Q8N9B4-1]
DR GeneID; 338699; -.
DR KEGG; hsa:338699; -.
DR UCSC; uc001ozz.2; human. [Q8N9B4-1]
DR CTD; 338699; -.
DR DisGeNET; 338699; -.
DR GeneCards; ANKRD42; -.
DR HGNC; HGNC:26752; ANKRD42.
DR HPA; ENSG00000137494; Tissue enhanced (testis).
DR MIM; 619778; gene.
DR neXtProt; NX_Q8N9B4; -.
DR OpenTargets; ENSG00000137494; -.
DR PharmGKB; PA142672609; -.
DR VEuPathDB; HostDB:ENSG00000137494; -.
DR eggNOG; KOG0504; Eukaryota.
DR eggNOG; KOG4412; Eukaryota.
DR GeneTree; ENSGT00940000154216; -.
DR InParanoid; Q8N9B4; -.
DR OrthoDB; 1115202at2759; -.
DR PhylomeDB; Q8N9B4; -.
DR TreeFam; TF354335; -.
DR PathwayCommons; Q8N9B4; -.
DR SignaLink; Q8N9B4; -.
DR BioGRID-ORCS; 338699; 37 hits in 1075 CRISPR screens.
DR ChiTaRS; ANKRD42; human.
DR GenomeRNAi; 338699; -.
DR Pharos; Q8N9B4; Tbio.
DR PRO; PR:Q8N9B4; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8N9B4; protein.
DR Bgee; ENSG00000137494; Expressed in thymus and 100 other tissues.
DR ExpressionAtlas; Q8N9B4; baseline and differential.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0051059; F:NF-kappaB binding; IBA:GO_Central.
DR GO; GO:0051092; P:positive regulation of NF-kappaB transcription factor activity; IBA:GO_Central.
DR Gene3D; 1.25.40.20; -; 3.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR Pfam; PF12796; Ank_2; 1.
DR Pfam; PF13637; Ank_4; 2.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 6.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Reference proteome; Repeat.
FT CHAIN 1..389
FT /note="Ankyrin repeat domain-containing protein 42"
FT /id="PRO_0000244371"
FT REPEAT 25..60
FT /note="ANK 1"
FT REPEAT 64..93
FT /note="ANK 2"
FT REPEAT 97..126
FT /note="ANK 3"
FT REPEAT 130..159
FT /note="ANK 4"
FT REPEAT 163..192
FT /note="ANK 5"
FT REPEAT 200..232
FT /note="ANK 6"
FT REPEAT 235..265
FT /note="ANK 7"
FT REPEAT 269..298
FT /note="ANK 8"
FT REPEAT 302..332
FT /note="ANK 9"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..18
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 46
FT /note="V -> VVRGASINELDVLHKFTPLHWAAHSGSLE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019559"
FT VAR_SEQ 168..170
FT /note="VHL -> EPP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019560"
FT VAR_SEQ 171..389
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019561"
FT VARIANT 198
FT /note="N -> D (in dbSNP:rs17515016)"
FT /id="VAR_028366"
FT CONFLICT 156
FT /note="S -> G (in Ref. 1; BAC04496)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 389 AA; 43052 MW; 0CE2E5CD08DD7F5E CRC64;
MPGVANSGPS TSSRETANPC SRKKVHFGSI HDAVRAGDVK QLSEIVCLHW LLWHGADITH
VTTRGWTASH IAAIRGQDAC VQALIMNGAN LTAQDDRGCT PLHLAATHGH SFTLQIMLRS
GVDPSVTDKR EWRPVHYAAF HGRLGCLQLL VKWGCSIEDV DYNGNLPVHL AAMEGHLHCF
KFLVSRMSSA TQVLKAFNDN GENVLDLAQR FFKQNILQFI QGAEYEGKDL EDQETLAFPG
HVAAFKGDLG MLKKLVEDGV ININERADNG STPMHKAAGQ GHIECLQWLI KMGADSNITN
KAGERPSDVA KRFAHLAAVK LLEELQKYDI DDENEIDEND VKYFIRHGVE GSTDAKDDLC
LSDLDKTDAR RPSKNCRASW SMNDYVEKN
