ID AMMR1_HUMAN Reviewed; 333 AA. AC Q9Y4X0; Q5JYV9; Q6P9D8; Q8WX22; Q9UIQ8; DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1999, sequence version 1. DT 27-MAR-2024, entry version 169. DE RecName: Full=Nuclear protein AMMECR1 {ECO:0000305}; DE AltName: Full=AMME syndrome candidate gene 1 protein; GN Name=AMMECR1; 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 [MRNA] (ISOFORMS 1 AND 2), AND INVOLVEMENT IN ATS-MR. RX PubMed=10049589; DOI=10.1006/geno.1998.5666; RA Vitelli F., Piccini M., Caroli F., Franco B., Malandrini A., Pober B., RA Jonsson J., Sorrentino V., Renieri A.; RT "Identification and characterization of a highly conserved protein absent RT in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), RT and elliptocytosis (E) contiguous gene deletion syndrome (AMME)."; RL Genomics 55:335-340(1999). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). RC TISSUE=Brain; 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 NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., RA Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). RC TISSUE=Placenta; 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 [5] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16, AND IDENTIFICATION BY RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Erythroleukemia; RX PubMed=23186163; DOI=10.1021/pr300630k; RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., RA Mohammed S.; RT "Toward a comprehensive characterization of a human cancer cell RT phosphoproteome."; RL J. Proteome Res. 12:260-271(2013). RN [6] RP INVOLVEMENT IN MFHIEN. RX PubMed=28089922; DOI=10.1016/j.gene.2017.01.001; RA Basel-Vanagaite L., Pillar N., Isakov O., Smirin-Yosef P., Lagovsky I., RA Orenstein N., Salmon-Divon M., Tamary H., Zaft T., Bazak L., RA Meyerovitch J., Pelli T., Botchan S., Farberov L., Weissglas-Volkov D., RA Shomron N.; RT "X-linked elliptocytosis with impaired growth is related to mutated RT AMMECR1."; RL Gene 606:47-52(2017). RN [7] RP VARIANT MFHIEN ASP-177, CHARACTERIZATION OF VARIANT MFHIEN ASP-177, RP INVOLVEMENT IN MFHIEN, AND SUBCELLULAR LOCATION. RX PubMed=27811305; DOI=10.1136/jmedgenet-2016-104100; RA Andreoletti G., Seaby E.G., Dewing J.M., O'Kelly I., Lachlan K., RA Gilbert R.D., Ennis S.; RT "AMMECR1: a single point mutation causes developmental delay, midface RT hypoplasia and elliptocytosis."; RL J. Med. Genet. 54:269-277(2017). CC -!- INTERACTION: CC Q9Y4X0; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-8583355, EBI-10173507; CC Q9Y4X0; Q13137: CALCOCO2; NbExp=4; IntAct=EBI-8583355, EBI-739580; CC Q9Y4X0; O95967: EFEMP2; NbExp=3; IntAct=EBI-8583355, EBI-743414; CC Q9Y4X0; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-8583355, EBI-10171774; CC Q9Y4X0; O75581: LRP6; NbExp=5; IntAct=EBI-8583355, EBI-910915; CC Q9Y4X0; Q93062: RBPMS; NbExp=4; IntAct=EBI-8583355, EBI-740322; CC Q9Y4X0; P14373: TRIM27; NbExp=3; IntAct=EBI-8583355, EBI-719493; CC Q9Y4X0; O70239: Axin1; Xeno; NbExp=3; IntAct=EBI-8583355, EBI-6857773; CC Q9Y4X0; Q6NRT0: csnk1g1; Xeno; NbExp=2; IntAct=EBI-8583355, EBI-8583566; CC Q9Y4X0-3; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-12823597, EBI-10173507; CC Q9Y4X0-3; Q13137: CALCOCO2; NbExp=3; IntAct=EBI-12823597, EBI-739580; CC Q9Y4X0-3; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12823597, EBI-3867333; CC Q9Y4X0-3; O95967: EFEMP2; NbExp=3; IntAct=EBI-12823597, EBI-743414; CC Q9Y4X0-3; P49639: HOXA1; NbExp=3; IntAct=EBI-12823597, EBI-740785; CC Q9Y4X0-3; O43593: HR; NbExp=3; IntAct=EBI-12823597, EBI-2880706; CC Q9Y4X0-3; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-12823597, EBI-10171774; CC Q9Y4X0-3; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12823597, EBI-16439278; CC Q9Y4X0-3; D3DTS7: PMP22; NbExp=3; IntAct=EBI-12823597, EBI-25882629; CC Q9Y4X0-3; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-12823597, EBI-750487; CC Q9Y4X0-3; Q63HR2: TNS2; NbExp=3; IntAct=EBI-12823597, EBI-949753; CC Q9Y4X0-3; Q15973: ZNF124; NbExp=3; IntAct=EBI-12823597, EBI-2555767; CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27811305}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=4; CC Name=1; CC IsoId=Q9Y4X0-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9Y4X0-2; Sequence=VSP_008516; CC Name=3; CC IsoId=Q9Y4X0-3; Sequence=VSP_017058; CC Name=4; CC IsoId=Q9Y4X0-4; Sequence=VSP_044229; CC -!- DISEASE: Midface hypoplasia, hearing impairment, elliptocytosis, and CC nephrocalcinosis (MFHIEN) [MIM:300990]: An X-linked recessive disorder CC with onset in early childhood, characterized by midface hypoplasia, CC hearing impairment, elliptocytosis, and nephrocalcinosis. Variable CC clinical features include anemia, and mild early motor or speech delay. CC {ECO:0000269|PubMed:27811305, ECO:0000269|PubMed:28089922}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: AMME complex (ATS-MR) [MIM:300194]: An X-linked contiguous CC gene deletion syndrome characterized by glomerulonephritis, CC sensorineural hearing loss, intellectual disability, midface hypoplasia CC and elliptocytosis. {ECO:0000269|PubMed:10049589}. Note=The gene CC represented in this entry may be involved in disease pathogenesis. 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; AJ007014; CAB45546.1; -; mRNA. DR EMBL; AK091430; BAG52359.1; -; mRNA. DR EMBL; AJ012221; CAB58122.1; -; Genomic_DNA. DR EMBL; AJ012222; CAB58122.1; JOINED; Genomic_DNA. DR EMBL; AJ012223; CAB58122.1; JOINED; Genomic_DNA. DR EMBL; AJ012224; CAB58122.1; JOINED; Genomic_DNA. DR EMBL; AJ012225; CAB58122.1; JOINED; Genomic_DNA. DR EMBL; AJ012226; CAB58122.1; JOINED; Genomic_DNA. DR EMBL; AJ012221; CAB58123.1; -; Genomic_DNA. DR EMBL; AJ012227; CAB58123.1; JOINED; Genomic_DNA. DR EMBL; AL079334; CAI42537.1; -; Genomic_DNA. DR EMBL; AL031319; CAI42537.1; JOINED; Genomic_DNA. DR EMBL; AL359079; CAI42537.1; JOINED; Genomic_DNA. DR EMBL; AL079334; CAI42538.1; -; Genomic_DNA. DR EMBL; AL031319; CAI42538.1; JOINED; Genomic_DNA. DR EMBL; AL359079; CAI42538.1; JOINED; Genomic_DNA. DR EMBL; AL359079; CAI41539.1; -; Genomic_DNA. DR EMBL; AL031319; CAI41539.1; JOINED; Genomic_DNA. DR EMBL; AL079334; CAI41539.1; JOINED; Genomic_DNA. DR EMBL; AL359079; CAI41540.1; -; Genomic_DNA. DR EMBL; AL031319; CAI41540.1; JOINED; Genomic_DNA. DR EMBL; AL079334; CAI41540.1; JOINED; Genomic_DNA. DR EMBL; AL031319; CAI42703.1; -; Genomic_DNA. DR EMBL; AL079334; CAI42703.1; JOINED; Genomic_DNA. DR EMBL; AL359079; CAI42703.1; JOINED; Genomic_DNA. DR EMBL; AL031319; CAI42704.1; -; Genomic_DNA. DR EMBL; AL079334; CAI42704.1; JOINED; Genomic_DNA. DR EMBL; AL359079; CAI42704.1; JOINED; Genomic_DNA. DR EMBL; BC060813; AAH60813.1; -; mRNA. DR CCDS; CCDS14551.1; -. [Q9Y4X0-1] DR CCDS; CCDS35368.1; -. [Q9Y4X0-3] DR CCDS; CCDS55476.1; -. [Q9Y4X0-4] DR RefSeq; NP_001020751.1; NM_001025580.1. [Q9Y4X0-3] DR RefSeq; NP_001165160.1; NM_001171689.1. [Q9Y4X0-4] DR RefSeq; NP_056180.1; NM_015365.2. [Q9Y4X0-1] DR AlphaFoldDB; Q9Y4X0; -. DR SMR; Q9Y4X0; -. DR BioGRID; 115274; 31. DR IntAct; Q9Y4X0; 29. DR MINT; Q9Y4X0; -. DR STRING; 9606.ENSP00000262844; -. DR iPTMnet; Q9Y4X0; -. DR PhosphoSitePlus; Q9Y4X0; -. DR SwissPalm; Q9Y4X0; -. DR BioMuta; AMMECR1; -. DR DMDM; 48475039; -. DR EPD; Q9Y4X0; -. DR jPOST; Q9Y4X0; -. DR MassIVE; Q9Y4X0; -. DR MaxQB; Q9Y4X0; -. DR PaxDb; 9606-ENSP00000262844; -. DR PeptideAtlas; Q9Y4X0; -. DR ProteomicsDB; 63517; -. DR ProteomicsDB; 86255; -. [Q9Y4X0-1] DR ProteomicsDB; 86256; -. [Q9Y4X0-2] DR ProteomicsDB; 86257; -. [Q9Y4X0-3] DR Pumba; Q9Y4X0; -. DR Antibodypedia; 29496; 136 antibodies from 24 providers. DR DNASU; 9949; -. DR Ensembl; ENST00000262844.10; ENSP00000262844.5; ENSG00000101935.13. [Q9Y4X0-1] DR Ensembl; ENST00000372057.1; ENSP00000361127.1; ENSG00000101935.13. [Q9Y4X0-4] DR Ensembl; ENST00000372059.6; ENSP00000361129.2; ENSG00000101935.13. [Q9Y4X0-3] DR GeneID; 9949; -. DR KEGG; hsa:9949; -. DR MANE-Select; ENST00000262844.10; ENSP00000262844.5; NM_015365.3; NP_056180.1. DR UCSC; uc004eoo.4; human. [Q9Y4X0-1] DR AGR; HGNC:467; -. DR DisGeNET; 9949; -. DR GeneCards; AMMECR1; -. DR HGNC; HGNC:467; AMMECR1. DR HPA; ENSG00000101935; Low tissue specificity. DR MalaCards; AMMECR1; -. DR MIM; 300194; phenotype. DR MIM; 300195; gene. DR MIM; 300990; phenotype. DR neXtProt; NX_Q9Y4X0; -. DR OpenTargets; ENSG00000101935; -. DR Orphanet; 86818; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome. DR PharmGKB; PA24772; -. DR VEuPathDB; HostDB:ENSG00000101935; -. DR eggNOG; KOG3274; Eukaryota. DR GeneTree; ENSGT00390000010397; -. DR HOGENOM; CLU_052828_0_0_1; -. DR InParanoid; Q9Y4X0; -. DR OMA; YAEYIGH; -. DR OrthoDB; 5474009at2759; -. DR PhylomeDB; Q9Y4X0; -. DR TreeFam; TF314680; -. DR PathwayCommons; Q9Y4X0; -. DR SignaLink; Q9Y4X0; -. DR BioGRID-ORCS; 9949; 10 hits in 773 CRISPR screens. DR ChiTaRS; AMMECR1; human. DR GenomeRNAi; 9949; -. DR Pharos; Q9Y4X0; Tbio. DR PRO; PR:Q9Y4X0; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; Q9Y4X0; Protein. DR Bgee; ENSG00000101935; Expressed in esophagus squamous epithelium and 179 other cell types or tissues. DR ExpressionAtlas; Q9Y4X0; baseline and differential. DR GO; GO:0005739; C:mitochondrion; IDA:HPA. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR InterPro; IPR023473; AMMECR1. DR InterPro; IPR036071; AMMECR1_dom_sf. DR InterPro; IPR002733; AMMECR1_domain. DR InterPro; IPR027485; AMMECR1_N. DR NCBIfam; TIGR00296; TIGR00296 family protein; 1. DR PANTHER; PTHR13016:SF2; AMME SYNDROME CANDIDATE GENE 1 PROTEIN; 1. DR PANTHER; PTHR13016; AMMECR1 HOMOLOG; 1. DR Pfam; PF01871; AMMECR1; 1. DR SUPFAM; SSF143447; AMMECR1-like; 1. DR PROSITE; PS51112; AMMECR1; 1. DR Genevisible; Q9Y4X0; HS. PE 1: Evidence at protein level; KW Alport syndrome; Alternative splicing; Deafness; Disease variant; KW Elliptocytosis; Hereditary hemolytic anemia; Intellectual disability; KW Nucleus; Phosphoprotein; Reference proteome. FT CHAIN 1..333 FT /note="Nuclear protein AMMECR1" FT /id="PRO_0000142366" FT DOMAIN 119..313 FT /note="AMMECR1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00467" FT REGION 1..39 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 101..120 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 12..37 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOD_RES 16 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:23186163" FT VAR_SEQ 1..123 FT /note="Missing (in isoform 4)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_044229" FT VAR_SEQ 158..333 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:10049589" FT /id="VSP_008516" FT VAR_SEQ 159..195 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_017058" FT VARIANT 177 FT /note="G -> D (in MFHIEN; creates a novel nonuniform FT expression pattern in the nucleus; dbSNP:rs1057519337)" FT /evidence="ECO:0000269|PubMed:27811305" FT /id="VAR_078027" SQ SEQUENCE 333 AA; 35463 MW; CE3942EFD6E55A8D CRC64; MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG TRLNGLGGLT GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP AAATSSSPSS SSAASSSSPG SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT PRFTNEPYPL FVTWKIGRDK RLRGCIGTFS AMNLHSGLRE YTLTSALKDS RFPPMTRDEL PRLFCSVSLL TNFEDVCDYL DWEVGVHGIR IEFINEKGSK RTATYLPEVA KEQGWDHIQT IDSLLRKGGY KAPITNEFRK TIKLTRYRSE KMTLSYAEYL AHRQHHHFQN GIGHPLPPYN HYS //