FACC1_HUMAN
ID FACC1_HUMAN Reviewed; 445 AA.
AC Q96Q35; G5E9S3; Q53TT6; Q8N1B6;
DT 19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2008, sequence version 2.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Flagellum-associated coiled-coil domain-containing protein 1 {ECO:0000305};
DE AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein;
GN Name=FLACC1 {ECO:0000312|HGNC:HGNC:14439}; Synonyms=ALS2CR12;
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 1), AND VARIANT LEU-43.
RC TISSUE=Testis;
RX PubMed=11586298; DOI=10.1038/ng1001-166;
RA Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S.,
RA Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A.,
RA Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr.,
RA Scherer S.W., Rouleau G.A., Hayden M.R., Ikeda J.-E.;
RT "A gene encoding a putative GTPase regulator is mutated in familial
RT amyotrophic lateral sclerosis 2.";
RL Nat. Genet. 29:166-173(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
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), AND VARIANT LEU-43.
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 ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-376, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
CC -!- INTERACTION:
CC Q96Q35; O75716: STK16; NbExp=3; IntAct=EBI-750451, EBI-749295;
CC Q96Q35; O00204: SULT2B1; NbExp=8; IntAct=EBI-750451, EBI-749441;
CC Q96Q35; P56279: TCL1A; NbExp=3; IntAct=EBI-750451, EBI-749995;
CC Q96Q35; Q86UY0: TXNDC5; NbExp=3; IntAct=EBI-750451, EBI-2825190;
CC Q96Q35-2; Q9UI12: ATP6V1H; NbExp=3; IntAct=EBI-11533409, EBI-724719;
CC Q96Q35-2; P51451: BLK; NbExp=5; IntAct=EBI-11533409, EBI-2105445;
CC Q96Q35-2; P46108: CRK; NbExp=3; IntAct=EBI-11533409, EBI-886;
CC Q96Q35-2; Q9NRI5-2: DISC1; NbExp=3; IntAct=EBI-11533409, EBI-11988027;
CC Q96Q35-2; Q92997: DVL3; NbExp=3; IntAct=EBI-11533409, EBI-739789;
CC Q96Q35-2; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-11533409, EBI-6658203;
CC Q96Q35-2; Q9C086: INO80B; NbExp=3; IntAct=EBI-11533409, EBI-715611;
CC Q96Q35-2; Q8TCE9: LGALS14; NbExp=3; IntAct=EBI-11533409, EBI-10274069;
CC Q96Q35-2; Q17RB8: LONRF1; NbExp=3; IntAct=EBI-11533409, EBI-2341787;
CC Q96Q35-2; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-11533409, EBI-1567797;
CC Q96Q35-2; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-11533409, EBI-742688;
CC Q96Q35-2; Q16385-2: SSX2B; NbExp=3; IntAct=EBI-11533409, EBI-17564583;
CC Q96Q35-2; O60224: SSX4B; NbExp=3; IntAct=EBI-11533409, EBI-745513;
CC Q96Q35-2; O00204: SULT2B1; NbExp=8; IntAct=EBI-11533409, EBI-749441;
CC Q96Q35-2; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-11533409, EBI-11139477;
CC Q96Q35-2; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-11533409, EBI-725997;
CC Q96Q35-2; P07947: YES1; NbExp=3; IntAct=EBI-11533409, EBI-515331;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BVM7}.
CC Cytoplasmic granule {ECO:0000250|UniProtKB:Q8BVM7}. Cell projection,
CC cilium, flagellum {ECO:0000250|UniProtKB:Q8BVM7}. Note=Expressed in the
CC principal piece of the sperm tail, nearest the sperm head.
CC {ECO:0000250|UniProtKB:Q8BVM7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96Q35-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96Q35-2; Sequence=VSP_046184;
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DR EMBL; AB053314; BAB69022.1; -; mRNA.
DR EMBL; AC007256; AAY24226.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70267.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70269.1; -; Genomic_DNA.
DR EMBL; BC031603; AAH31603.1; -; mRNA.
DR CCDS; CCDS2346.1; -. [Q96Q35-1]
DR CCDS; CCDS46488.1; -. [Q96Q35-2]
DR RefSeq; NP_001120863.1; NM_001127391.2. [Q96Q35-2]
DR RefSeq; NP_001276922.1; NM_001289993.1. [Q96Q35-2]
DR RefSeq; NP_631902.2; NM_139163.3. [Q96Q35-1]
DR AlphaFoldDB; Q96Q35; -.
DR SMR; Q96Q35; -.
DR BioGRID; 126239; 38.
DR IntAct; Q96Q35; 25.
DR STRING; 9606.ENSP00000385098; -.
DR iPTMnet; Q96Q35; -.
DR PhosphoSitePlus; Q96Q35; -.
DR BioMuta; ALS2CR12; -.
DR DMDM; 212278361; -.
DR jPOST; Q96Q35; -.
DR MassIVE; Q96Q35; -.
DR PaxDb; Q96Q35; -.
DR PeptideAtlas; Q96Q35; -.
DR PRIDE; Q96Q35; -.
DR ProteomicsDB; 34028; -.
DR ProteomicsDB; 77818; -. [Q96Q35-1]
DR Antibodypedia; 34140; 86 antibodies from 20 providers.
DR DNASU; 130540; -.
DR Ensembl; ENST00000286190.9; ENSP00000286190.5; ENSG00000155749.13. [Q96Q35-1]
DR Ensembl; ENST00000392257.8; ENSP00000376086.3; ENSG00000155749.13. [Q96Q35-2]
DR Ensembl; ENST00000405148.6; ENSP00000385098.2; ENSG00000155749.13. [Q96Q35-1]
DR Ensembl; ENST00000439709.5; ENSP00000412073.1; ENSG00000155749.13. [Q96Q35-2]
DR GeneID; 130540; -.
DR KEGG; hsa:130540; -.
DR MANE-Select; ENST00000392257.8; ENSP00000376086.3; NM_001127391.3; NP_001120863.1. [Q96Q35-2]
DR UCSC; uc002uya.5; human. [Q96Q35-1]
DR CTD; 130540; -.
DR DisGeNET; 130540; -.
DR GeneCards; FLACC1; -.
DR HGNC; HGNC:14439; FLACC1.
DR HPA; ENSG00000155749; Tissue enhanced (testis).
DR MIM; 619796; gene.
DR neXtProt; NX_Q96Q35; -.
DR OpenTargets; ENSG00000155749; -.
DR PharmGKB; PA24735; -.
DR VEuPathDB; HostDB:ENSG00000155749; -.
DR eggNOG; ENOG502R2KT; Eukaryota.
DR GeneTree; ENSGT00400000022323; -.
DR HOGENOM; CLU_049696_0_0_1; -.
DR InParanoid; Q96Q35; -.
DR OMA; MEKEYKY; -.
DR OrthoDB; 1374230at2759; -.
DR PhylomeDB; Q96Q35; -.
DR TreeFam; TF338239; -.
DR PathwayCommons; Q96Q35; -.
DR SignaLink; Q96Q35; -.
DR BioGRID-ORCS; 130540; 13 hits in 1066 CRISPR screens.
DR GenomeRNAi; 130540; -.
DR Pharos; Q96Q35; Tbio.
DR PRO; PR:Q96Q35; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q96Q35; protein.
DR Bgee; ENSG00000155749; Expressed in right uterine tube and 100 other tissues.
DR ExpressionAtlas; Q96Q35; baseline and differential.
DR Genevisible; Q96Q35; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0031410; C:cytoplasmic vesicle; ISS:UniProtKB.
DR GO; GO:0001520; C:outer dense fiber; ISS:UniProtKB.
DR GO; GO:0035686; C:sperm fibrous sheath; IBA:GO_Central.
DR GO; GO:0036126; C:sperm flagellum; ISS:UniProtKB.
DR InterPro; IPR026674; FLACC1.
DR PANTHER; PTHR21707; PTHR21707; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Cell projection; Cilium; Coiled coil;
KW Cytoplasm; Flagellum; Reference proteome.
FT CHAIN 1..445
FT /note="Flagellum-associated coiled-coil domain-containing
FT protein 1"
FT /id="PRO_0000064540"
FT REGION 26..47
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 122..226
FT /evidence="ECO:0000255"
FT COILED 283..315
FT /evidence="ECO:0000255"
FT COILED 387..414
FT /evidence="ECO:0000255"
FT COMPBIAS 27..43
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 376
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT VAR_SEQ 315..337
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046184"
FT VARIANT 43
FT /note="V -> L (in dbSNP:rs13014235)"
FT /evidence="ECO:0000269|PubMed:11586298,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_045625"
SQ SEQUENCE 445 AA; 52439 MW; D8E65CEC49AFD522 CRC64;
MYPNPLIYCT CWDPWNLGPR KLIKTPQLPR KNSTGSSKLT PLVPAPKNHN YLQPTKPVVS
PKMKIHSARQ EETNKSFYEV INVSPGYQLV RNREQISVTL GDEMFDRKKR WESEIPDKGR
FSRTNIISDL EEQISELTAI IEQMNRDHQS AQKLLSSEMD LRCAEMKQNF ENKNRELKEA
HEAELSELEN NYKAALKAEK LAAQEKLEEM GKEYKYLKNM FRTYQDSIYD EMEEKWSKQK
AKWKKDEKFE RENILLQQKK KMTKKFEMES GEEDKKINES CSAVFENFIQ EKEELLKQHQ
SDTLQLEELR KTKEVPWRRD QINRHWHDVL QQLLLMQVMQ EELHAQALIL ESLNTNLYYT
QLELQKEKAI VGNLEKMLQT KFAETEEKYK HTIQILTEEN IHLKQKIISK NEEICEGCSG
RLASITVSKD DSDTVQDGSK KGQES
