ARM12_HUMAN
ID ARM12_HUMAN Reviewed; 340 AA.
AC Q5T9G4; Q8NEB2; Q96LL8;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Armadillo repeat-containing protein 12;
GN Name=ARMC12; Synonyms=C6orf81;
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 3).
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH RBBP4,
RP AND MUTAGENESIS OF VAL-190.
RX PubMed=30026490; DOI=10.1038/s41467-018-05286-2;
RA Li D., Song H., Mei H., Fang E., Wang X., Yang F., Li H., Chen Y.,
RA Huang K., Zheng L., Tong Q.;
RT "Armadillo repeat containing 12 promotes neuroblastoma progression through
RT interaction with retinoblastoma binding protein 4.";
RL Nat. Commun. 9:2829-2829(2018).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=33536340; DOI=10.1073/pnas.2018355118;
RA Shimada K., Park S., Miyata H., Yu Z., Morohoshi A., Oura S., Matzuk M.M.,
RA Ikawa M.;
RT "ARMC12 regulates spatiotemporal mitochondrial dynamics during
RT spermiogenesis and is required for male fertility.";
RL Proc. Natl. Acad. Sci. U.S.A. 118:0-0(2021).
CC -!- FUNCTION: Essential for male fertility and sperm mitochondrial sheath
CC formation (By similarity). Required for proper mitochondrial elongation
CC and coiling along the flagellum during the formation of the
CC mitochondrial sheath (By similarity). Facilitates the growth and
CC aggressiveness of neuroblastoma cells (PubMed:30026490). Increases the
CC EZH2 activity and H3K27me3 levels in a RBBP4-dependent manner, and
CC facilitates the enrichment of polycomb repressive complex 2 and
CC H3K27me3 on gene promoters, resulting in transcriptional repression of
CC tumor suppressors affecting the proliferation, invasion, and metastasis
CC of tumor cells (PubMed:30026490). {ECO:0000250|UniProtKB:Q80X86,
CC ECO:0000269|PubMed:30026490}.
CC -!- SUBUNIT: Interacts with TBC1D15, TBC1D21, GK2 and IMMT (By similarity).
CC Interacts with VDAC2 and VDAC3 in a TBC1D21-dependent manner (By
CC similarity). Interacts (via ARM domains) with RBBP4 (PubMed:30026490).
CC {ECO:0000250|UniProtKB:Q80X86, ECO:0000269|PubMed:30026490}.
CC -!- INTERACTION:
CC Q5T9G4-2; Q08426: EHHADH; NbExp=3; IntAct=EBI-23667468, EBI-2339219;
CC Q5T9G4-2; Q7L5A8: FA2H; NbExp=3; IntAct=EBI-23667468, EBI-11337888;
CC Q5T9G4-2; Q05329: GAD2; NbExp=3; IntAct=EBI-23667468, EBI-9304251;
CC Q5T9G4-2; Q9HC62: SENP2; NbExp=3; IntAct=EBI-23667468, EBI-714881;
CC Q5T9G4-2; Q13596: SNX1; NbExp=3; IntAct=EBI-23667468, EBI-2822329;
CC Q5T9G4-2; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-23667468, EBI-742688;
CC Q5T9G4-2; P49638: TTPA; NbExp=3; IntAct=EBI-23667468, EBI-10210710;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:30026490}.
CC Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q80X86}; Peripheral
CC membrane protein {ECO:0000250|UniProtKB:Q80X86}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5T9G4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T9G4-2; Sequence=VSP_017800;
CC Name=3;
CC IsoId=Q5T9G4-3; Sequence=VSP_017801;
CC -!- TISSUE SPECIFICITY: Testis-specific (PubMed:33536340). Expressed at
CC higher levels in neuroblastoma tissues and cell lines, than those of
CC normal dorsal ganglia (at protein level) (PubMed:30026490). Expressed
CC in breast cancer, colon cancer, hepatocellular carcinoma, lung cancer,
CC pancreas cancer, prostate cancer, renal cancer and gastric cancer, but
CC not in their normal counterparts (PubMed:30026490).
CC {ECO:0000269|PubMed:30026490, ECO:0000269|PubMed:33536340}.
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DR EMBL; AK058119; BAB71672.1; -; mRNA.
DR EMBL; AL157823; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC033033; AAH33033.1; -; mRNA.
DR CCDS; CCDS4809.1; -. [Q5T9G4-2]
DR CCDS; CCDS69093.1; -. [Q5T9G4-1]
DR CCDS; CCDS69094.1; -. [Q5T9G4-3]
DR RefSeq; NP_001273503.1; NM_001286574.1. [Q5T9G4-1]
DR RefSeq; NP_001273505.1; NM_001286576.1. [Q5T9G4-3]
DR RefSeq; NP_659465.2; NM_145028.4. [Q5T9G4-2]
DR RefSeq; XP_016865924.1; XM_017010435.1. [Q5T9G4-2]
DR AlphaFoldDB; Q5T9G4; -.
DR SMR; Q5T9G4; -.
DR BioGRID; 128733; 74.
DR IntAct; Q5T9G4; 7.
DR STRING; 9606.ENSP00000288065; -.
DR iPTMnet; Q5T9G4; -.
DR PhosphoSitePlus; Q5T9G4; -.
DR BioMuta; ARMC12; -.
DR DMDM; 74745673; -.
DR MassIVE; Q5T9G4; -.
DR PeptideAtlas; Q5T9G4; -.
DR PRIDE; Q5T9G4; -.
DR ProteomicsDB; 64799; -. [Q5T9G4-1]
DR ProteomicsDB; 64800; -. [Q5T9G4-2]
DR ProteomicsDB; 64801; -. [Q5T9G4-3]
DR TopDownProteomics; Q5T9G4-2; -. [Q5T9G4-2]
DR Antibodypedia; 29544; 24 antibodies from 9 providers.
DR DNASU; 221481; -.
DR Ensembl; ENST00000288065.6; ENSP00000288065.2; ENSG00000157343.9. [Q5T9G4-2]
DR Ensembl; ENST00000373866.4; ENSP00000362973.3; ENSG00000157343.9. [Q5T9G4-1]
DR Ensembl; ENST00000373869.7; ENSP00000362976.3; ENSG00000157343.9. [Q5T9G4-3]
DR GeneID; 221481; -.
DR KEGG; hsa:221481; -.
DR MANE-Select; ENST00000373866.4; ENSP00000362973.3; NM_001286574.2; NP_001273503.1.
DR UCSC; uc003ola.5; human. [Q5T9G4-1]
DR CTD; 221481; -.
DR DisGeNET; 221481; -.
DR GeneCards; ARMC12; -.
DR HGNC; HGNC:21099; ARMC12.
DR HPA; ENSG00000157343; Tissue enriched (testis).
DR neXtProt; NX_Q5T9G4; -.
DR OpenTargets; ENSG00000157343; -.
DR PharmGKB; PA134885894; -.
DR VEuPathDB; HostDB:ENSG00000157343; -.
DR eggNOG; ENOG502QTRM; Eukaryota.
DR GeneTree; ENSGT00390000003856; -.
DR HOGENOM; CLU_070346_0_0_1; -.
DR InParanoid; Q5T9G4; -.
DR OMA; CQPPLCS; -.
DR OrthoDB; 806221at2759; -.
DR PhylomeDB; Q5T9G4; -.
DR TreeFam; TF337134; -.
DR PathwayCommons; Q5T9G4; -.
DR SignaLink; Q5T9G4; -.
DR BioGRID-ORCS; 221481; 11 hits in 1070 CRISPR screens.
DR GenomeRNAi; 221481; -.
DR Pharos; Q5T9G4; Tdark.
DR PRO; PR:Q5T9G4; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5T9G4; protein.
DR Bgee; ENSG00000157343; Expressed in right testis and 96 other tissues.
DR ExpressionAtlas; Q5T9G4; baseline and differential.
DR Genevisible; Q5T9G4; HS.
DR GO; GO:0019898; C:extrinsic component of membrane; ISS:UniProtKB.
DR GO; GO:0005741; C:mitochondrial outer membrane; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0030307; P:positive regulation of cell growth; IMP:UniProtKB.
DR GO; GO:0120317; P:sperm mitochondrial sheath assembly; ISS:UniProtKB.
DR Gene3D; 1.25.10.10; -; 1.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR006911; ARM-rpt_dom.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR042834; Armc12.
DR PANTHER; PTHR47144; PTHR47144; 1.
DR Pfam; PF04826; Arm_2; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Differentiation; Membrane; Mitochondrion;
KW Mitochondrion outer membrane; Nucleus; Reference proteome; Repeat;
KW Spermatogenesis.
FT CHAIN 1..340
FT /note="Armadillo repeat-containing protein 12"
FT /id="PRO_0000230163"
FT REPEAT 100..139
FT /note="ARM 1"
FT REPEAT 179..218
FT /note="ARM 2"
FT REPEAT 278..318
FT /note="ARM 3"
FT REGION 1..101
FT /note="Interaction with TBC1D15"
FT /evidence="ECO:0000250|UniProtKB:Q80X86"
FT VAR_SEQ 55
FT /note="R -> RECPGPGERALPQEAPAPEASAVGGPKG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017800"
FT VAR_SEQ 230..239
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_017801"
FT MUTAGEN 190
FT /note="V->A: Loss of interaction with RBBP4."
FT /evidence="ECO:0000269|PubMed:30026490"
SQ SEQUENCE 340 AA; 38632 MW; A70856BBA54FAEB8 CRC64;
MGKSIPQYLG QLDIRKSVVS LATGAGAIYL LYKAIKAGIK CKPPLCSNSP ICIARLAVER
ERHGRDSGEL RRLLNSLECK QDEYAKSMIL HSITRCVYLL EAEASACTTD DIVLLGYMLD
DKDNSVKTQA LNTLKAFSGI RKFRLKIQEH SIKVLELIST IWDTELHIAG LRLLNNLPLP
DYVHPQLRRV MPALMEILQS DYILAQVQAV RLLSYLAQKN DLLYDILNCQ VHSNFLNLFQ
PTQSGSLLYE VLVFAERLSE GRNAPHYHVV KWHYNEQSLH ESLFGEESRL ADRLLALVIH
PEEDVQIQAC KVIVSLQYPQ DLRARPSSCQ PSRSYFKNTE
