AJM1_HUMAN
ID AJM1_HUMAN Reviewed; 976 AA.
AC C9J069;
DT 23-MAR-2010, integrated into UniProtKB/Swiss-Prot.
DT 03-NOV-2009, sequence version 1.
DT 03-AUG-2022, entry version 80.
DE RecName: Full=Apical junction component 1 homolog {ECO:0000305};
GN Name=AJM1 {ECO:0000312|HGNC:HGNC:37284}; Synonyms=C9orf172;
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 GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
CC -!- FUNCTION: May be involved in the control of adherens junction
CC integrity. {ECO:0000250|UniProtKB:A0A1C3NSL9}.
CC -!- SUBCELLULAR LOCATION: Apical cell membrane
CC {ECO:0000250|UniProtKB:A0A1C3NSL9}. Cell projection, cilium
CC {ECO:0000250|UniProtKB:A0A1C3NSL9}. Cell junction, adherens junction
CC {ECO:0000250|UniProtKB:A0A1C3NSL9}.
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DR EMBL; AL355987; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS48059.1; -.
DR RefSeq; NP_001073951.2; NM_001080482.2.
DR AlphaFoldDB; C9J069; -.
DR BioGRID; 133280; 2.
DR STRING; 9606.ENSP00000412388; -.
DR iPTMnet; C9J069; -.
DR PhosphoSitePlus; C9J069; -.
DR BioMuta; C9orf172; -.
DR jPOST; C9J069; -.
DR MassIVE; C9J069; -.
DR PaxDb; C9J069; -.
DR PeptideAtlas; C9J069; -.
DR PRIDE; C9J069; -.
DR ProteomicsDB; 7898; -.
DR Antibodypedia; 32260; 47 antibodies from 10 providers.
DR DNASU; 389813; -.
DR Ensembl; ENST00000436881.3; ENSP00000412388.1; ENSG00000232434.3.
DR GeneID; 389813; -.
DR KEGG; hsa:389813; -.
DR MANE-Select; ENST00000436881.3; ENSP00000412388.1; NM_001080482.5; NP_001073951.2.
DR UCSC; uc011meh.3; human.
DR CTD; 389813; -.
DR GeneCards; AJM1; -.
DR HGNC; HGNC:37284; AJM1.
DR HPA; ENSG00000232434; Tissue enhanced (brain, pituitary gland).
DR neXtProt; NX_C9J069; -.
DR OpenTargets; ENSG00000232434; -.
DR PharmGKB; PA165585544; -.
DR VEuPathDB; HostDB:ENSG00000232434; -.
DR eggNOG; ENOG502QQYV; Eukaryota.
DR GeneTree; ENSGT00390000016543; -.
DR HOGENOM; CLU_012765_0_0_1; -.
DR InParanoid; C9J069; -.
DR OMA; KEKTHDN; -.
DR OrthoDB; 71355at2759; -.
DR PhylomeDB; C9J069; -.
DR TreeFam; TF323946; -.
DR PathwayCommons; C9J069; -.
DR SignaLink; C9J069; -.
DR BioGRID-ORCS; 389813; 18 hits in 1003 CRISPR screens.
DR ChiTaRS; C9orf172; human.
DR GenomeRNAi; 389813; -.
DR Pharos; C9J069; Tdark.
DR PRO; PR:C9J069; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; C9J069; protein.
DR Bgee; ENSG00000232434; Expressed in right hemisphere of cerebellum and 94 other tissues.
DR Genevisible; C9J069; HS.
DR GO; GO:0005912; C:adherens junction; IEA:UniProtKB-SubCell.
DR GO; GO:0043296; C:apical junction complex; IBA:GO_Central.
DR GO; GO:0016324; C:apical plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0045216; P:cell-cell junction organization; IBA:GO_Central.
DR InterPro; IPR038825; Apical_junction.
DR PANTHER; PTHR21517; PTHR21517; 1.
PE 3: Inferred from homology;
KW Cell junction; Cell membrane; Cell projection; Membrane; Methylation;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..976
FT /note="Apical junction component 1 homolog"
FT /id="PRO_0000392544"
FT REGION 21..49
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 61..136
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 220..242
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 264..294
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 412..443
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 539..574
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 614..660
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 855..888
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 79..93
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 52
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AJA9"
FT MOD_RES 129
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AJA9"
FT MOD_RES 322
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:A2AJA9"
FT MOD_RES 468
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AJA9"
FT MOD_RES 509
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AJA9"
FT MOD_RES 512
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AJA9"
FT MOD_RES 749
FT /note="Asymmetric dimethylarginine; alternate"
FT /evidence="ECO:0000250|UniProtKB:A2AJA9"
FT MOD_RES 749
FT /note="Omega-N-methylarginine; alternate"
FT /evidence="ECO:0000250|UniProtKB:A2AJA9"
SQ SEQUENCE 976 AA; 106650 MW; 7DB1CCE956BCA47D CRC64;
MTRTDPPDLL VSTVYQDIKV ATPGPASKCS PCERSVARPA EPAPFNKRHC RSFDFLEALD
GPAMETLPEP PPPESAVPRA RTREAEPRRR ARSKSAPRAP PGLTPAPASP PVLPRRGREA
QRAARAEASP RREPAYPALR ALANELHPIK LQPQRGGPGR VAPLCAAAGR CAPPEPPAGP
APHVRCRLDI KPDDAVLQHA TRGSRSCGPT EAAHWARPAP QFHGLTVPGP RHMALSRTPT
PSDSYCADPR AFYCDGPLPG PRDYAERRSL PFTTPPGPTQ FFYTEEPQGF RGSFAASPGP
TFDAYYPRPY PSEELSGPSP RRMGGYYAGE VRTFPIQEPP SRSYYGEAPR AYGLPYGPRY
VPEEPRAHST ARPFYTEDFG RYRERDVLAR TYPHPRSSPA WADWGPRPYR TLQVVPPSDP
DPLLASWHGG TGTSPPRLAT DSRHYSRSWD NILAPGPRRE DPLGRGRSYE NLLGREVREP
RGVSPEGRRP PVVVNLSTSP RRYAALSLSE TSLTEKGRAG EGLGRNWYVT PEITITDNDL
RATERPSARA WELPGGRTRP PPHAAPDGPT SGRQRSLEQL DELITDLVID SRPTAGQASE
PAADCLGPQL RRLLDSRPAG SGAPALAPPR SPPASAGSAE EPAAPGEAAD ASPEPSADED
DLMTCSNARC RRTETMFNAC LYFKSCHSCY TYYCSRLCRR EDWDAHKARC VYGRVGSVCR
HVLQFCRDSG PVHRAFSRIA RVGFLSRGRG VLFLGFPSPG SADNFLRFGL EGLLLSPTYL
SLRELATHAA PLGSYARELA AAGRLYEPAE CFLLSVSVAV GPGTAPPGTP ALPAPAPRSH
GPTVRKFAKV ALAAGSPARP PPARSREPDM ETLILTPPPG TAGLDQDGEA GRRAREVAFI
HIQRELRLRG VFLRHEFPRV YEQLCEFVEA NRRFTPTTIY PTDRRTGRPF MCMIMAASEP
RALDWVASAN LLDDIM