AN13C_HUMAN
ID AN13C_HUMAN Reviewed; 541 AA.
AC Q8N6S4; B3KQ97; Q5VYH4; Q5VYH5; Q6PJE4; Q9H0N9;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 27-JUN-2006, sequence version 2.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Ankyrin repeat domain-containing protein 13C;
GN Name=ANKRD13C;
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 2).
RC TISSUE=Kidney;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP SER-413.
RC TISSUE=Colon, and Eye;
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 352-541 (ISOFORM 1).
RC TISSUE=Teratocarcinoma;
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 [5]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=20959461; DOI=10.1074/jbc.m110.142257;
RA Parent A., Roy S.J., Iorio-Morin C., Lepine M.C., Labrecque P.,
RA Gallant M.A., Slipetz D., Parent J.L.;
RT "ANKRD13C acts as a molecular Chaperone for G protein-coupled receptors.";
RL J. Biol. Chem. 285:40838-40851(2010).
CC -!- FUNCTION: Acts as a molecular chaperone for G protein-coupled
CC receptors, regulating their biogenesis and exit from the ER.
CC {ECO:0000269|PubMed:20959461}.
CC -!- INTERACTION:
CC Q8N6S4; Q8NHS1: CLDND2; NbExp=3; IntAct=EBI-11959451, EBI-11959453;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:20959461}. Note=Associated with the cytosolic side.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N6S4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N6S4-2; Sequence=VSP_019408;
CC Name=3;
CC IsoId=Q8N6S4-3; Sequence=VSP_019406, VSP_019407;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAG51959.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL136717; CAB66651.1; -; mRNA.
DR EMBL; AL158839; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353771; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL354721; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC016937; AAH16937.1; -; mRNA.
DR EMBL; BC028840; AAH28840.1; -; mRNA.
DR EMBL; AK074187; BAG51959.1; ALT_INIT; mRNA.
DR CCDS; CCDS648.2; -. [Q8N6S4-1]
DR RefSeq; NP_110443.3; NM_030816.4. [Q8N6S4-1]
DR AlphaFoldDB; Q8N6S4; -.
DR SMR; Q8N6S4; -.
DR BioGRID; 123534; 18.
DR IntAct; Q8N6S4; 9.
DR MINT; Q8N6S4; -.
DR STRING; 9606.ENSP00000359982; -.
DR iPTMnet; Q8N6S4; -.
DR PhosphoSitePlus; Q8N6S4; -.
DR BioMuta; ANKRD13C; -.
DR DMDM; 109940205; -.
DR EPD; Q8N6S4; -.
DR jPOST; Q8N6S4; -.
DR MassIVE; Q8N6S4; -.
DR MaxQB; Q8N6S4; -.
DR PaxDb; Q8N6S4; -.
DR PeptideAtlas; Q8N6S4; -.
DR PRIDE; Q8N6S4; -.
DR ProteomicsDB; 72222; -. [Q8N6S4-1]
DR ProteomicsDB; 72223; -. [Q8N6S4-2]
DR ProteomicsDB; 72224; -. [Q8N6S4-3]
DR Antibodypedia; 33431; 81 antibodies from 18 providers.
DR DNASU; 81573; -.
DR Ensembl; ENST00000262346.6; ENSP00000262346.6; ENSG00000118454.13. [Q8N6S4-2]
DR Ensembl; ENST00000370944.9; ENSP00000359982.4; ENSG00000118454.13. [Q8N6S4-1]
DR GeneID; 81573; -.
DR KEGG; hsa:81573; -.
DR MANE-Select; ENST00000370944.9; ENSP00000359982.4; NM_030816.5; NP_110443.3.
DR UCSC; uc001dex.5; human. [Q8N6S4-1]
DR CTD; 81573; -.
DR GeneCards; ANKRD13C; -.
DR HGNC; HGNC:25374; ANKRD13C.
DR HPA; ENSG00000118454; Low tissue specificity.
DR MIM; 615125; gene.
DR neXtProt; NX_Q8N6S4; -.
DR OpenTargets; ENSG00000118454; -.
DR PharmGKB; PA142672617; -.
DR VEuPathDB; HostDB:ENSG00000118454; -.
DR eggNOG; KOG0522; Eukaryota.
DR GeneTree; ENSGT00950000182928; -.
DR HOGENOM; CLU_026137_1_0_1; -.
DR InParanoid; Q8N6S4; -.
DR OMA; YPMHQSV; -.
DR OrthoDB; 425969at2759; -.
DR PhylomeDB; Q8N6S4; -.
DR TreeFam; TF314176; -.
DR PathwayCommons; Q8N6S4; -.
DR SignaLink; Q8N6S4; -.
DR BioGRID-ORCS; 81573; 14 hits in 1077 CRISPR screens.
DR ChiTaRS; ANKRD13C; human.
DR GeneWiki; ANKRD13C; -.
DR GenomeRNAi; 81573; -.
DR Pharos; Q8N6S4; Tbio.
DR PRO; PR:Q8N6S4; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8N6S4; protein.
DR Bgee; ENSG00000118454; Expressed in calcaneal tendon and 180 other tissues.
DR Genevisible; Q8N6S4; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:BHF-UCL.
DR GO; GO:0005102; F:signaling receptor binding; IPI:BHF-UCL.
DR GO; GO:0006621; P:protein retention in ER lumen; IMP:BHF-UCL.
DR GO; GO:2000209; P:regulation of anoikis; IDA:BHF-UCL.
DR GO; GO:0010469; P:regulation of signaling receptor activity; IDA:BHF-UCL.
DR Gene3D; 1.25.40.20; -; 1.
DR InterPro; IPR021832; ANKRD13.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR PANTHER; PTHR12447; PTHR12447; 1.
DR Pfam; PF12796; Ank_2; 1.
DR Pfam; PF11904; GPCR_chapero_1; 1.
DR SMART; SM00248; ANK; 2.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; ANK repeat; Chaperone; Endoplasmic reticulum;
KW Membrane; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..541
FT /note="Ankyrin repeat domain-containing protein 13C"
FT /id="PRO_0000240645"
FT REPEAT 111..142
FT /note="ANK 1"
FT REPEAT 143..172
FT /note="ANK 2"
FT REPEAT 176..205
FT /note="ANK 3"
FT REGION 1..27
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..21
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 411
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3UX43"
FT VAR_SEQ 145..147
FT /note="NTP -> EEC (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019406"
FT VAR_SEQ 148..541
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019407"
FT VAR_SEQ 158..193
FT /note="ECAHLLLAHNAPVKVKNAQGWSPLAEAISYGDRQMI -> V (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_019408"
FT VARIANT 413
FT /note="T -> S (in dbSNP:rs17852616)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_026825"
FT CONFLICT 369
FT /note="L -> I (in Ref. 1; CAB66651)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 541 AA; 60818 MW; 0215707FDFB92046 CRC64;
MTGEKIRSLR RDHKPSKEEG DLLEPGDEEA AAALGGTFTR SRIGKGGKAC HKIFSNHHHR
LQLKAAPASS NPPGAPALPL HNSSVTANSQ SPALLAGTNP VAVVADGGSC PAHYPVHECV
FKGDVRRLSS LIRTHNIGQK DNHGNTPLHL AVMLGNKECA HLLLAHNAPV KVKNAQGWSP
LAEAISYGDR QMITALLRKL KQQSRESVEE KRPRLLKALK ELGDFYLELH WDFQSWVPLL
SRILPSDACK IYKQGINIRL DTTLIDFTDM KCQRGDLSFI FNGDAAPSES FVVLDNEQKV
YQRIHHEESE METEEEVDIL MSSDIYSATL STKSISFTRA QTGWLFREDK TERVGNFLAD
FYLVNGLVLE SRKRREHLSE EDILRNKAIM ESLSKGGNIM EQNFEPIRRQ SLTPPPQNTI
TWEEYISAEN GKAPHLGREL VCKESKKTFK ATIAMSQEFP LGIELLLNVL EVVAPFKHFN
KLREFVQMKL PPGFPVKLDI PVFPTITATV TFQEFRYDEF DGSIFTIPDD YKEDPSRFPD
L
