NDUF6_HUMAN
ID NDUF6_HUMAN Reviewed; 333 AA.
AC Q330K2; A8MT28; A8MWF0; B4DQ45; Q8N6U6;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=NADH dehydrogenase (ubiquinone) complex I, assembly factor 6;
DE AltName: Full=Putative phytoene synthase;
DE Flags: Precursor;
GN Name=NDUFAF6; Synonyms=C8orf38;
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] (ISOFORM 3).
RA Zheng H., Xie Y., Mao Y.;
RT "Cloning of a novel putative phytoene synthase.";
RL Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
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 [4]
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 20-322 (ISOFORM 1).
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 FUNCTION, AND VARIANT MC1DN17 ARG-99.
RX PubMed=18614015; DOI=10.1016/j.cell.2008.06.016;
RA Pagliarini D.J., Calvo S.E., Chang B., Sheth S.A., Vafai S.B., Ong S.E.,
RA Walford G.A., Sugiana C., Boneh A., Chen W.K., Hill D.E., Vidal M.,
RA Evans J.G., Thorburn D.R., Carr S.A., Mootha V.K.;
RT "A mitochondrial protein compendium elucidates complex I disease biology.";
RL Cell 134:112-123(2008).
RN [7]
RP SUBCELLULAR LOCATION, FUNCTION, AND CHARACTERIZATION OF VARIANT MC1DN17
RP ARG-99.
RX PubMed=22019594; DOI=10.1016/j.jmb.2011.10.012;
RA McKenzie M., Tucker E.J., Compton A.G., Lazarou M., George C.,
RA Thorburn D.R., Ryan M.T.;
RT "Mutations in the gene encoding C8orf38 block complex I assembly by
RT inhibiting production of the mitochondria-encoded subunit ND1.";
RL J. Mol. Biol. 414:413-426(2011).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [9]
RP TISSUE SPECIFICITY, INVOLVEMENT IN FRTS5, AND ALTERNATIVE SPLICING.
RX PubMed=27466185; DOI=10.1093/hmg/ddw245;
RA Hartmannova H., Piherova L., Tauchmannova K., Kidd K., Acott P.D.,
RA Crocker J.F., Oussedik Y., Mallet M., Hodanova K., Stranecky V.,
RA Pristoupilova A., Baresova V., Jedlickova I., Zivna M., Sovova J.,
RA Hulkova H., Robins V., Vrbacky M., Pecina P., Kaplanova V., Houstek J.,
RA Mracek T., Thibeault Y., Bleyer A.J., Kmoch S.;
RT "Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory
RT chain complex I deficiency due to a non-coding mutation in complex I
RT assembly factor NDUFAF6.";
RL Hum. Mol. Genet. 25:4062-4079(2016).
RN [10]
RP INVOLVEMENT IN MC1DN17, AND VARIANTS MC1DN17 VAL-69; PRO-76; THR-124;
RP ASP-269 AND GLY-274.
RX PubMed=26741492; DOI=10.1371/journal.pgen.1005679;
RA Kohda M., Tokuzawa Y., Kishita Y., Nyuzuki H., Moriyama Y., Mizuno Y.,
RA Hirata T., Yatsuka Y., Yamashita-Sugahara Y., Nakachi Y., Kato H.,
RA Okuda A., Tamaru S., Borna N.N., Banshoya K., Aigaki T., Sato-Miyata Y.,
RA Ohnuma K., Suzuki T., Nagao A., Maehata H., Matsuda F., Higasa K.,
RA Nagasaki M., Yasuda J., Yamamoto M., Fushimi T., Shimura M.,
RA Kaiho-Ichimoto K., Harashima H., Yamazaki T., Mori M., Murayama K.,
RA Ohtake A., Okazaki Y.;
RT "A comprehensive genomic analysis reveals the genetic landscape of
RT mitochondrial respiratory chain complex deficiencies.";
RL PLoS Genet. 12:E1005679-E1005679(2016).
RN [11]
RP VARIANT MC1DN17 PRO-178.
RX PubMed=27623250; DOI=10.1016/j.ymgme.2016.09.001;
RA Bianciardi L., Imperatore V., Fernandez-Vizarra E., Lopomo A.,
RA Falabella M., Furini S., Galluzzi P., Grosso S., Zeviani M., Renieri A.,
RA Mari F., Frullanti E.;
RT "Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh
RT gene.";
RL Mol. Genet. Metab. 119:214-222(2016).
RN [12]
RP VARIANT MC1DN17 PRO-178.
RX PubMed=29531337; DOI=10.1038/s10038-018-0423-1;
RA Catania A., Ardissone A., Verrigni D., Legati A., Reyes A., Lamantea E.,
RA Diodato D., Tonduti D., Imperatore V., Pinto A.M., Moroni I., Bertini E.,
RA Robinson A., Carrozzo R., Zeviani M., Ghezzi D.;
RT "Compound heterozygous missense and deep intronic variants in NDUFAF6
RT unraveled by exome sequencing and mRNA analysis.";
RL J. Hum. Genet. 63:563-568(2018).
RN [13]
RP VARIANT MC1DN17 THR-124.
RX PubMed=30642748; DOI=10.1016/j.ymgme.2019.01.001;
RA Baide-Mairena H., Gaudo P., Marti-Sanchez L., Emperador S.,
RA Sanchez-Montanez A., Alonso-Luengo O., Correa M., Grau A.M.,
RA Ortigoza-Escobar J.D., Artuch R., Vazquez E., Del Toro M.,
RA Garrido-Perez N., Ruiz-Pesini E., Montoya J., Bayona-Bafaluy M.P.,
RA Perez-Duenas B.;
RT "Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause
RT isolated bilateral striatal necrosis and progressive dystonia in
RT childhood.";
RL Mol. Genet. Metab. 126:250-258(2019).
CC -!- FUNCTION: Involved in the assembly of mitochondrial NADH:ubiquinone
CC oxidoreductase complex (complex I) at early stages. May play a role in
CC the biogenesis of complex I subunit MT-ND1.
CC {ECO:0000269|PubMed:18614015, ECO:0000269|PubMed:22019594}.
CC -!- INTERACTION:
CC Q330K2-3; Q96NT3-2: GUCD1; NbExp=3; IntAct=EBI-12957691, EBI-11978177;
CC Q330K2-3; P32242: OTX1; NbExp=3; IntAct=EBI-12957691, EBI-740446;
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion inner membrane.
CC Note=Peripherally localized on the matrix face of the mitochondrial
CC inner membrane.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm. Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Comment=Additional isoforms seem to exist.
CC {ECO:0000269|PubMed:27466185};
CC Name=1;
CC IsoId=Q330K2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q330K2-2; Sequence=VSP_026230;
CC Name=3;
CC IsoId=Q330K2-3; Sequence=VSP_026231, VSP_026232;
CC -!- TISSUE SPECIFICITY: Widely expressed. A lower expression is observed in
CC lung and kidney compared to heart, muscle and liver (PubMed:27466185).
CC In the kidney, expression is high in the basal zone of the proximal
CC tubular cells (PubMed:27466185). {ECO:0000269|PubMed:27466185}.
CC -!- DISEASE: Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17)
CC [MIM:618239]: A form of mitochondrial complex I deficiency, the most
CC common biochemical signature of mitochondrial disorders, a group of
CC highly heterogeneous conditions characterized by defective oxidative
CC phosphorylation, which collectively affects 1 in 5-10000 live births.
CC Clinical disorders have variable severity, ranging from lethal neonatal
CC disease to adult-onset neurodegenerative disorders. Phenotypes include
CC macrocephaly with progressive leukodystrophy, non-specific
CC encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh
CC syndrome, Leber hereditary optic neuropathy, and some forms of
CC Parkinson disease. MC1DN17 transmission pattern is consistent with
CC autosomal recessive inheritance. {ECO:0000269|PubMed:18614015,
CC ECO:0000269|PubMed:22019594, ECO:0000269|PubMed:26741492,
CC ECO:0000269|PubMed:27623250, ECO:0000269|PubMed:29531337,
CC ECO:0000269|PubMed:30642748}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Fanconi renotubular syndrome 5 (FRTS5) [MIM:618913]: A form of
CC Fanconi renotubular syndrome, a disease due to a generalized
CC dysfunction of the proximal kidney tubule resulting in decreased solute
CC and water reabsorption. Patients have polydipsia and polyuria with
CC phosphaturia, glycosuria and aminoaciduria. They may develop
CC hypophosphatemic rickets or osteomalacia, acidosis and a tendency
CC toward dehydration. Some eventually develop renal insufficiency. FRTS5
CC is an autosomal recessive mitochondrial disorder characterized by
CC proximal renotubular dysfunction from birth, followed by progressive
CC kidney disease and pulmonary fibrosis. {ECO:0000269|PubMed:27466185}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry. A homozygous disease-causing variant located in intron 2
CC leads to aberrant splicing and altered isoform synthesis. Kidney and
CC lung tissues from affected individuals show specific loss of
CC mitochondrial isoform 1. Patient cells show defects in mitochondrial
CC complex I assembly and altered mitochondrial respiration.
CC {ECO:0000269|PubMed:27466185}.
CC -!- SIMILARITY: Belongs to the NDUFAF6 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAG60807.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAW91734.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AY444560; AAS68536.1; -; mRNA.
DR EMBL; AC087752; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471060; EAW91734.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC028166; AAH28166.1; -; mRNA.
DR EMBL; AK298631; BAG60807.1; ALT_INIT; mRNA.
DR CCDS; CCDS6266.2; -. [Q330K2-1]
DR RefSeq; NP_001317511.1; NM_001330582.1.
DR RefSeq; NP_689629.2; NM_152416.3. [Q330K2-1]
DR RefSeq; XP_011515135.1; XM_011516833.2.
DR RefSeq; XP_011515136.1; XM_011516834.2.
DR RefSeq; XP_011515137.1; XM_011516835.2.
DR RefSeq; XP_011515138.1; XM_011516836.2.
DR RefSeq; XP_011515139.1; XM_011516837.2.
DR RefSeq; XP_011515140.1; XM_011516838.2.
DR RefSeq; XP_011515141.1; XM_011516839.2.
DR RefSeq; XP_011515142.1; XM_011516840.2.
DR RefSeq; XP_011515143.1; XM_011516841.2.
DR RefSeq; XP_011515144.1; XM_011516842.2.
DR RefSeq; XP_016868516.1; XM_017013027.1.
DR RefSeq; XP_016868517.1; XM_017013028.1.
DR RefSeq; XP_016868518.1; XM_017013029.1.
DR RefSeq; XP_016868519.1; XM_017013030.1.
DR RefSeq; XP_016868520.1; XM_017013031.1.
DR RefSeq; XP_016868521.1; XM_017013032.1.
DR RefSeq; XP_016868522.1; XM_017013033.1.
DR AlphaFoldDB; Q330K2; -.
DR SMR; Q330K2; -.
DR BioGRID; 126481; 7.
DR IntAct; Q330K2; 3.
DR STRING; 9606.ENSP00000379430; -.
DR iPTMnet; Q330K2; -.
DR PhosphoSitePlus; Q330K2; -.
DR BioMuta; NDUFAF6; -.
DR DMDM; 182676420; -.
DR EPD; Q330K2; -.
DR jPOST; Q330K2; -.
DR MassIVE; Q330K2; -.
DR MaxQB; Q330K2; -.
DR PaxDb; Q330K2; -.
DR PeptideAtlas; Q330K2; -.
DR PRIDE; Q330K2; -.
DR ProteomicsDB; 61636; -. [Q330K2-1]
DR ProteomicsDB; 61637; -. [Q330K2-2]
DR ProteomicsDB; 61638; -. [Q330K2-3]
DR Antibodypedia; 63909; 17 antibodies from 7 providers.
DR DNASU; 137682; -.
DR Ensembl; ENST00000396124.9; ENSP00000379430.4; ENSG00000156170.13. [Q330K2-1]
DR Ensembl; ENST00000518258.5; ENSP00000428788.1; ENSG00000156170.13. [Q330K2-3]
DR Ensembl; ENST00000523337.5; ENSP00000429038.1; ENSG00000156170.13. [Q330K2-3]
DR GeneID; 137682; -.
DR KEGG; hsa:137682; -.
DR MANE-Select; ENST00000396124.9; ENSP00000379430.4; NM_152416.4; NP_689629.2.
DR UCSC; uc003yhj.4; human. [Q330K2-1]
DR CTD; 137682; -.
DR DisGeNET; 137682; -.
DR GeneCards; NDUFAF6; -.
DR HGNC; HGNC:28625; NDUFAF6.
DR HPA; ENSG00000156170; Low tissue specificity.
DR MalaCards; NDUFAF6; -.
DR MIM; 612392; gene.
DR MIM; 618239; phenotype.
DR MIM; 618913; phenotype.
DR neXtProt; NX_Q330K2; -.
DR OpenTargets; ENSG00000156170; -.
DR Orphanet; 255241; Leigh syndrome with leukodystrophy.
DR Orphanet; 3337; Primary Fanconi renotubular syndrome.
DR PharmGKB; PA142672357; -.
DR VEuPathDB; HostDB:ENSG00000156170; -.
DR eggNOG; KOG4411; Eukaryota.
DR GeneTree; ENSGT00510000048688; -.
DR HOGENOM; CLU_037269_6_0_1; -.
DR InParanoid; Q330K2; -.
DR OMA; RKFWLAW; -.
DR OrthoDB; 616989at2759; -.
DR PhylomeDB; Q330K2; -.
DR TreeFam; TF300084; -.
DR PathwayCommons; Q330K2; -.
DR Reactome; R-HSA-6799198; Complex I biogenesis.
DR SignaLink; Q330K2; -.
DR BioGRID-ORCS; 137682; 75 hits in 1084 CRISPR screens.
DR ChiTaRS; NDUFAF6; human.
DR GenomeRNAi; 137682; -.
DR Pharos; Q330K2; Tbio.
DR PRO; PR:Q330K2; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q330K2; protein.
DR Bgee; ENSG00000156170; Expressed in right uterine tube and 167 other tissues.
DR ExpressionAtlas; Q330K2; baseline and differential.
DR Genevisible; Q330K2; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0009058; P:biosynthetic process; IEA:InterPro.
DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB.
DR Gene3D; 1.10.600.10; -; 1.
DR InterPro; IPR008949; Isoprenoid_synthase_dom_sf.
DR InterPro; IPR002060; Squ/phyt_synthse.
DR Pfam; PF00494; SQS_PSY; 1.
DR SUPFAM; SSF48576; SSF48576; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Disease variant; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Nucleus; Primary mitochondrial disease;
KW Reference proteome; Transit peptide.
FT TRANSIT 1..44
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 45..333
FT /note="NADH dehydrogenase (ubiquinone) complex I, assembly
FT factor 6"
FT /id="PRO_0000291772"
FT VAR_SEQ 1..65
FT /note="MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGP
FT GAWGTDHYCLELL -> MPISISHSSWLVQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026230"
FT VAR_SEQ 100..120
FT /note="VKDSVSEKTIGLMRMQFWKKT -> AGLLLLLSCCTVCHWDLNTKHC (in
FT isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_026231"
FT VAR_SEQ 121..333
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_026232"
FT VARIANT 69
FT /note="D -> V (in MC1DN17; dbSNP:rs1057519085)"
FT /evidence="ECO:0000269|PubMed:26741492"
FT /id="VAR_076272"
FT VARIANT 76
FT /note="S -> P (in MC1DN17; dbSNP:rs1057519084)"
FT /evidence="ECO:0000269|PubMed:26741492"
FT /id="VAR_076273"
FT VARIANT 99
FT /note="Q -> R (in MC1DN17; dbSNP:rs137853184)"
FT /evidence="ECO:0000269|PubMed:18614015,
FT ECO:0000269|PubMed:22019594"
FT /id="VAR_047770"
FT VARIANT 124
FT /note="I -> T (in MC1DN17; dbSNP:rs201732170)"
FT /evidence="ECO:0000269|PubMed:26741492,
FT ECO:0000269|PubMed:30642748"
FT /id="VAR_076274"
FT VARIANT 178
FT /note="A -> P (in MC1DN17; dbSNP:rs201088736)"
FT /evidence="ECO:0000269|PubMed:27623250,
FT ECO:0000269|PubMed:29531337"
FT /id="VAR_084382"
FT VARIANT 269
FT /note="H -> D (in MC1DN17; dbSNP:rs768273248)"
FT /evidence="ECO:0000269|PubMed:26741492"
FT /id="VAR_076275"
FT VARIANT 274
FT /note="R -> G (in MC1DN17; dbSNP:rs1057519086)"
FT /evidence="ECO:0000269|PubMed:26741492"
FT /id="VAR_076276"
SQ SEQUENCE 333 AA; 38176 MW; 1D3521A817F4B4BB CRC64;
MAASAHGSVW GPLRLGIPGL CCRRPPLGLY ARMRRLPGPE VSGRSVAAAS GPGAWGTDHY
CLELLRKRDY EGYLCSLLLP AESRSSVFAL RAFNVELAQV KDSVSEKTIG LMRMQFWKKT
VEDIYCDNPP HQPVAIELWK AVKRHNLTKR WLMKIVDERE KNLDDKAYRN IKELENYAEN
TQSSLLYLTL EILGIKDLHA DHAASHIGKA QGIVTCLRAT PYHGSRRKVF LPMDICMLHG
VSQEDFLRRN QDKNVRDVIY DIASQAHLHL KHARSFHKTV PVKAFPAFLQ TVSLEDFLKK
IQRVDFDIFH PSLQQKNTLL PLYLYIQSWR KTY
