ID WDR37_HUMAN Reviewed; 494 AA. AC Q9Y2I8; A8K976; D3DRQ7; Q5SW03; Q8WVG2; Q9NTJ6; DT 20-JUN-2001, integrated into UniProtKB/Swiss-Prot. DT 07-MAR-2006, sequence version 2. DT 24-JAN-2024, entry version 184. DE RecName: Full=WD repeat-containing protein 37; GN Name=WDR37; Synonyms=KIAA0982; 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=Brain; RX PubMed=10231032; DOI=10.1093/dnares/6.1.63; 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. XIII. The RT complete sequences of 100 new cDNA clones from brain which code for large RT proteins in vitro."; RL DNA Res. 6:63-70(1999). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Testis; 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 [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Testis; 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 [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15164054; DOI=10.1038/nature02462; RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P., RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.; RT "The DNA sequence and comparative analysis of human chromosome 10."; RL Nature 429:375-381(2004). RN [5] 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANTS THR-11 AND RP LYS-221. 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). RN [7] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=22814378; DOI=10.1073/pnas.1210303109; RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.; RT "N-terminal acetylome analyses and functional insights of the N-terminal RT acetyltransferase NatB."; RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012). RN [8] RP INVOLVEMENT IN NOCGUS, AND VARIANTS NOCGUS PHE-119; ILE-125; CYS-129 AND RP ILE-130. RX PubMed=31327508; DOI=10.1016/j.ajhg.2019.06.014; RG Undiagnosed Diseases Network; RA Kanca O., Andrews J.C., Lee P.T., Patel C., Braddock S.R., Slavotinek A.M., RA Cohen J.S., Gubbels C.S., Aldinger K.A., Williams J., Indaram M., RA Fatemi A., Yu T.W., Agrawal P.B., Vezina G., Simons C., Crawford J., RA Lau C.C., Chung W.K., Markello T.C., Dobyns W.B., Adams D.R., Gahl W.A., RA Wangler M.F., Yamamoto S., Bellen H.J., Malicdan M.C.V.; RT "De novo variants in WDR37 are associated with epilepsy, colobomas, RT dysmorphism, developmental delay, intellectual disability, and cerebellar RT hypoplasia."; RL Am. J. Hum. Genet. 105:413-424(2019). RN [9] RP ERRATUM OF PUBMED:31327508. RX PubMed=31491411; DOI=10.1016/j.ajhg.2019.07.017; RG Undiagnosed Diseases Network; RA Kanca O., Andrews J.C., Lee P.T., Patel C., Braddock S.R., Slavotinek A.M., RA Cohen J.S., Gubbels C.S., Aldinger K.A., Williams J., Indaram M., RA Fatemi A., Yu T.W., Agrawal P.B., Vezina G., Simons C., Crawford J., RA Lau C.C., Chung W.K., Markello T.C., Dobyns W.B., Adams D.R., Gahl W.A., RA Wangler M.F., Yamamoto S., Bellen H.J., Malicdan M.C.V.; RL Am. J. Hum. Genet. 105:672-674(2019). RN [10] RP SUBCELLULAR LOCATION, INVOLVEMENT IN NOCGUS, AND VARIANTS NOCGUS PHE-119; RP ILE-125; CYS-129 AND ILE-130. RX PubMed=31327510; DOI=10.1016/j.ajhg.2019.06.015; RA Reis L.M., Sorokina E.A., Thompson S., Muheisen S., Velinov M., Zamora C., RA Aylsworth A.S., Semina E.V.; RT "De novo missense variants in WDR37 cause a severe multisystemic RT syndrome."; RL Am. J. Hum. Genet. 105:425-433(2019). RN [11] RP VARIANTS NOCGUS ILE-115 AND TYR-119. RX PubMed=32530092; DOI=10.1111/cge.13795; RA Hay E., Henderson R.H., Mansour S., Deshpande C., Jones R., Nutan S., RA Mankad K., Young R.M., Moosajee M., Research Consortium G.E., Arno G.; RT "Expanding the phenotypic spectrum consequent upon de novo WDR37 missense RT variants."; RL Clin. Genet. 98:191-197(2020). RN [12] RP VARIANTS NOCGUS GLY-220; HIS-257 AND ASN-260, SUBCELLULAR LOCATION, RP SUBUNIT, INTERACTION WITH PACS1 AND PACS2, AND CHARACTERIZATION OF VARIANTS RP NOCGUS PHE-119; ILE-125; CYS-129; ILE-130; GLY-220; HIS-257 AND ASN-260. RX PubMed=34642815; DOI=10.1007/s00439-021-02384-y; RA Sorokina E.A., Reis L.M., Thompson S., Agre K., Babovic-Vuksanovic D., RA Ellingson M.S., Hasadsri L., van Bever Y., Semina E.V.; RT "WDR37 syndrome: identification of a distinct new cluster of disease- RT associated variants and functional analyses of mutant proteins."; RL Hum. Genet. 140:1775-1789(2021). CC -!- FUNCTION: Required for normal ER Ca2+ handling in lymphocytes. Together CC with PACS1, it plays an essential role in stabilizing peripheral CC lymphocyte populations. {ECO:0000250|UniProtKB:Q8CBE3}. CC -!- SUBUNIT: Forms homodimers (PubMed:34642815). Interacts with PACS1 CC (PubMed:34642815). Interacts with PACS2 (PubMed:34642815). CC {ECO:0000250|UniProtKB:Q8CBE3, ECO:0000269|PubMed:34642815}. CC -!- INTERACTION: CC Q9Y2I8-3; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12369603, EBI-16439278; CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:31327510, CC ECO:0000269|PubMed:34642815}. Nucleus {ECO:0000269|PubMed:31327510}. CC Note=Primarily localized in the cytoplasm with the highest CC concentration in the perinuclear region and in small clusters at the CC leading edge of the spreading cells. {ECO:0000269|PubMed:34642815}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q9Y2I8-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9Y2I8-2; Sequence=VSP_054011; CC Name=3; CC IsoId=Q9Y2I8-3; Sequence=VSP_054012, VSP_054013; CC -!- DISEASE: Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652]: CC An autosomal dominant multisystem disorder characterized by significant CC neurological impairment with structural brain defects and seizures, CC poor feeding, poor postnatal growth, ocular anomalies, dysmorphic CC facial features, and variable skeletal, cardiac and genitourinary CC defects. Death in infancy may occur. {ECO:0000269|PubMed:31327508, CC ECO:0000269|PubMed:31327510, ECO:0000269|PubMed:32530092, CC ECO:0000269|PubMed:34642815}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- SEQUENCE CAUTION: CC Sequence=BAA76826.2; Type=Erroneous initiation; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AB023199; BAA76826.2; ALT_INIT; mRNA. DR EMBL; AL136827; CAB66761.1; -; mRNA. DR EMBL; AK292591; BAF85280.1; -; mRNA. DR EMBL; AC022536; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL607085; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471072; EAW86514.1; -; Genomic_DNA. DR EMBL; CH471072; EAW86516.1; -; Genomic_DNA. DR EMBL; BC018044; AAH18044.1; -; mRNA. DR CCDS; CCDS7057.1; -. [Q9Y2I8-1] DR PIR; T46442; T46442. DR RefSeq; NP_054742.2; NM_014023.3. [Q9Y2I8-1] DR AlphaFoldDB; Q9Y2I8; -. DR SMR; Q9Y2I8; -. DR BioGRID; 116551; 72. DR IntAct; Q9Y2I8; 29. DR MINT; Q9Y2I8; -. DR STRING; 9606.ENSP00000263150; -. DR GlyCosmos; Q9Y2I8; 1 site, 1 glycan. DR GlyGen; Q9Y2I8; 3 sites, 1 O-linked glycan (3 sites). DR iPTMnet; Q9Y2I8; -. DR PhosphoSitePlus; Q9Y2I8; -. DR SwissPalm; Q9Y2I8; -. DR BioMuta; WDR37; -. DR DMDM; 90122397; -. DR EPD; Q9Y2I8; -. DR jPOST; Q9Y2I8; -. DR MassIVE; Q9Y2I8; -. DR MaxQB; Q9Y2I8; -. DR PaxDb; 9606-ENSP00000350954; -. DR PeptideAtlas; Q9Y2I8; -. DR ProteomicsDB; 85805; -. [Q9Y2I8-1] DR Pumba; Q9Y2I8; -. DR Antibodypedia; 23814; 167 antibodies from 21 providers. DR DNASU; 22884; -. DR Ensembl; ENST00000263150.9; ENSP00000263150.4; ENSG00000047056.18. [Q9Y2I8-1] DR Ensembl; ENST00000358220.5; ENSP00000350954.1; ENSG00000047056.18. [Q9Y2I8-1] DR GeneID; 22884; -. DR KEGG; hsa:22884; -. DR MANE-Select; ENST00000263150.9; ENSP00000263150.4; NM_014023.4; NP_054742.2. DR UCSC; uc001igf.2; human. [Q9Y2I8-1] DR AGR; HGNC:31406; -. DR CTD; 22884; -. DR DisGeNET; 22884; -. DR GeneCards; WDR37; -. DR HGNC; HGNC:31406; WDR37. DR HPA; ENSG00000047056; Low tissue specificity. DR MalaCards; WDR37; -. DR MIM; 618586; gene. DR MIM; 618652; phenotype. DR neXtProt; NX_Q9Y2I8; -. DR OpenTargets; ENSG00000047056; -. DR PharmGKB; PA134922218; -. DR VEuPathDB; HostDB:ENSG00000047056; -. DR eggNOG; KOG0300; Eukaryota. DR GeneTree; ENSGT00930000150950; -. DR HOGENOM; CLU_036428_0_0_1; -. DR InParanoid; Q9Y2I8; -. DR OMA; TACIWGV; -. DR OrthoDB; 2874789at2759; -. DR PhylomeDB; Q9Y2I8; -. DR TreeFam; TF105876; -. DR PathwayCommons; Q9Y2I8; -. DR SignaLink; Q9Y2I8; -. DR BioGRID-ORCS; 22884; 12 hits in 1170 CRISPR screens. DR ChiTaRS; WDR37; human. DR GeneWiki; WDR37; -. DR GenomeRNAi; 22884; -. DR Pharos; Q9Y2I8; Tbio. DR PRO; PR:Q9Y2I8; -. DR Proteomes; UP000005640; Chromosome 10. DR RNAct; Q9Y2I8; Protein. DR Bgee; ENSG00000047056; Expressed in secondary oocyte and 187 other cell types or tissues. DR ExpressionAtlas; Q9Y2I8; baseline and differential. DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR GO; GO:0022038; P:corpus callosum development; IEA:Ensembl. DR GO; GO:0002260; P:lymphocyte homeostasis; ISS:UniProtKB. DR CDD; cd00200; WD40; 1. DR Gene3D; 2.130.10.10; YVTN repeat-like/Quinoprotein amine dehydrogenase; 3. DR InterPro; IPR020472; G-protein_beta_WD-40_rep. DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf. DR InterPro; IPR019775; WD40_repeat_CS. DR InterPro; IPR036322; WD40_repeat_dom_sf. DR InterPro; IPR001680; WD40_rpt. DR PANTHER; PTHR19855:SF12; WD REPEAT-CONTAINING PROTEIN 37; 1. DR PANTHER; PTHR19855; WD40 REPEAT PROTEIN 12, 37; 1. DR Pfam; PF00400; WD40; 5. DR PRINTS; PR00320; GPROTEINBRPT. DR SMART; SM00320; WD40; 6. DR SUPFAM; SSF50978; WD40 repeat-like; 1. DR PROSITE; PS00678; WD_REPEATS_1; 2. DR PROSITE; PS50082; WD_REPEATS_2; 5. DR PROSITE; PS50294; WD_REPEATS_REGION; 1. DR Genevisible; Q9Y2I8; HS. PE 1: Evidence at protein level; KW Alternative splicing; Cytoplasm; Disease variant; Nucleus; KW Reference proteome; Repeat; WD repeat. FT CHAIN 1..494 FT /note="WD repeat-containing protein 37" FT /id="PRO_0000051387" FT REPEAT 154..194 FT /note="WD 1" FT REPEAT 197..236 FT /note="WD 2" FT REPEAT 279..318 FT /note="WD 3" FT REPEAT 321..360 FT /note="WD 4" FT REPEAT 365..403 FT /note="WD 5" FT REPEAT 406..445 FT /note="WD 6" FT REPEAT 452..493 FT /note="WD 7" FT REGION 1..50 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 237..265 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VAR_SEQ 242 FT /note="S -> SQ (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_054011" FT VAR_SEQ 243..264 FT /note="ISGEDEVECSDKDEPDLDGDVS -> VSTFPYLRMCRMLMSANLRIHL (in FT isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_054012" FT VAR_SEQ 265..494 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_054013" FT VARIANT 11 FT /note="A -> T (in dbSNP:rs17856557)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_070805" FT VARIANT 115 FT /note="T -> I (in NOCGUS)" FT /evidence="ECO:0000269|PubMed:32530092" FT /id="VAR_087686" FT VARIANT 119 FT /note="S -> F (in NOCGUS; no effect on interaction with FT PACS1 and PACS2; does not affect homodimerization)" FT /evidence="ECO:0000269|PubMed:31327508, FT ECO:0000269|PubMed:31327510, ECO:0000269|PubMed:34642815" FT /id="VAR_083347" FT VARIANT 119 FT /note="S -> Y (in NOCGUS)" FT /evidence="ECO:0000269|PubMed:32530092" FT /id="VAR_087687" FT VARIANT 125 FT /note="T -> I (in NOCGUS; no effect on interaction with FT PACS1 and PACS2; does not affect homodimerization)" FT /evidence="ECO:0000269|PubMed:31327508, FT ECO:0000269|PubMed:31327510, ECO:0000269|PubMed:34642815" FT /id="VAR_083348" FT VARIANT 129 FT /note="S -> C (in NOCGUS; no effect on interaction with FT PACS1 and PACS2; does not affect homodimerization)" FT /evidence="ECO:0000269|PubMed:31327508, FT ECO:0000269|PubMed:31327510, ECO:0000269|PubMed:34642815" FT /id="VAR_083349" FT VARIANT 130 FT /note="T -> I (in NOCGUS; no effect on interaction with FT PACS1 and PACS2; does not affect homodimerization)" FT /evidence="ECO:0000269|PubMed:31327508, FT ECO:0000269|PubMed:31327510, ECO:0000269|PubMed:34642815" FT /id="VAR_083350" FT VARIANT 220 FT /note="D -> G (in NOCGUS; loss of interaction with PACS1 FT and PACS2; does not affect homodimerization; does not FT affect subcellular location to cytoplasm)" FT /evidence="ECO:0000269|PubMed:34642815" FT /id="VAR_087688" FT VARIANT 221 FT /note="Q -> K (in dbSNP:rs17856556)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_070806" FT VARIANT 225 FT /note="I -> V (in dbSNP:rs2306407)" FT /id="VAR_025432" FT VARIANT 257 FT /note="P -> H (in NOCGUS; uncertain significance; no effect FT on interaction with PACS1 and PACS2; does not affect FT homodimerization; does not affect subcellular location to FT cytoplasm)" FT /evidence="ECO:0000269|PubMed:34642815" FT /id="VAR_087689" FT VARIANT 260 FT /note="D -> N (in NOCGUS; no effect on interaction with FT PACS1 and PACS2; does not affect homodimerization; does not FT affect subcellular location to cytoplasm)" FT /evidence="ECO:0000269|PubMed:34642815" FT /id="VAR_087690" FT CONFLICT 267 FT /note="C -> S (in Ref. 1; BAA76826)" FT /evidence="ECO:0000305" SQ SEQUENCE 494 AA; 54665 MW; 49D05A24DD230005 CRC64; MPTESASCST ARQTKQKRKS HSLSIRRTNS SEQERTGLPR DMLEGQDSKL PSSVRSTLLE LFGQIEREFE NLYIENLELR REIDTLNERL AAEGQAIDGA ELSKGQLKTK ASHSTSQLSQ KLKTTYKAST SKIVSSFKTT TSRAACQLVK EYIGHRDGIW DVSVAKTQPV VLGTASADHT ALLWSIETGK CLVKYAGHVG SVNSIKFHPS EQLALTASGD QTAHIWRYAV QLPTPQPVAD TSISGEDEVE CSDKDEPDLD GDVSSDCPTI RVPLTSLKSH QGVVIASDWL VGGKQAVTAS WDRTANLYDV ETSELVHSLT GHDQELTHCC THPTQRLVVT SSRDTTFRLW DFRDPSIHSV NVFQGHTDTV TSAVFTVGDN VVSGSDDRTV KVWDLKNMRS PIATIRTDSA INRINVCVGQ KIIALPHDNR QVRLFDMSGV RLARLPRSSR QGHRRMVCCS AWSEDHPVCN LFTCGFDRQA IGWNINIPAL LQEK //