CI043_HUMAN
ID CI043_HUMAN Reviewed; 461 AA.
AC Q8TAL5;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Uncharacterized protein C9orf43;
GN Name=C9orf43;
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cervix, and 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).
CC -!- INTERACTION:
CC Q8TAL5; Q5R372-2: RABGAP1L; NbExp=3; IntAct=EBI-10694291, EBI-10692254;
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DR EMBL; AL137066; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC026884; AAH26884.1; -; mRNA.
DR EMBL; BC033037; AAH33037.1; -; mRNA.
DR CCDS; CCDS6796.1; -.
DR RefSeq; NP_001265558.1; NM_001278629.1.
DR RefSeq; NP_689999.1; NM_152786.2.
DR AlphaFoldDB; Q8TAL5; -.
DR BioGRID; 129203; 9.
DR IntAct; Q8TAL5; 7.
DR MINT; Q8TAL5; -.
DR STRING; 9606.ENSP00000288462; -.
DR iPTMnet; Q8TAL5; -.
DR PhosphoSitePlus; Q8TAL5; -.
DR BioMuta; C9orf43; -.
DR DMDM; 71152406; -.
DR EPD; Q8TAL5; -.
DR MassIVE; Q8TAL5; -.
DR PaxDb; Q8TAL5; -.
DR PeptideAtlas; Q8TAL5; -.
DR PRIDE; Q8TAL5; -.
DR ProteomicsDB; 73890; -.
DR Antibodypedia; 15333; 101 antibodies from 18 providers.
DR DNASU; 257169; -.
DR Ensembl; ENST00000288462.4; ENSP00000288462.4; ENSG00000157653.12.
DR Ensembl; ENST00000374165.6; ENSP00000363280.1; ENSG00000157653.12.
DR GeneID; 257169; -.
DR KEGG; hsa:257169; -.
DR MANE-Select; ENST00000374165.6; ENSP00000363280.1; NM_001278629.2; NP_001265558.1.
DR UCSC; uc004bho.6; human.
DR CTD; 257169; -.
DR DisGeNET; 257169; -.
DR GeneCards; C9orf43; -.
DR HGNC; HGNC:23570; C9orf43.
DR HPA; ENSG00000157653; Tissue enriched (testis).
DR neXtProt; NX_Q8TAL5; -.
DR OpenTargets; ENSG00000157653; -.
DR PharmGKB; PA134972642; -.
DR VEuPathDB; HostDB:ENSG00000157653; -.
DR eggNOG; ENOG502SUB4; Eukaryota.
DR GeneTree; ENSGT00390000013600; -.
DR HOGENOM; CLU_604045_0_0_1; -.
DR InParanoid; Q8TAL5; -.
DR OMA; CPEMKIQ; -.
DR PhylomeDB; Q8TAL5; -.
DR TreeFam; TF337505; -.
DR PathwayCommons; Q8TAL5; -.
DR SignaLink; Q8TAL5; -.
DR BioGRID-ORCS; 257169; 10 hits in 1059 CRISPR screens.
DR ChiTaRS; C9orf43; human.
DR GenomeRNAi; 257169; -.
DR Pharos; Q8TAL5; Tdark.
DR PRO; PR:Q8TAL5; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q8TAL5; protein.
DR Bgee; ENSG00000157653; Expressed in left testis and 94 other tissues.
DR ExpressionAtlas; Q8TAL5; baseline and differential.
DR Genevisible; Q8TAL5; HS.
DR InterPro; IPR029134; DUF4647.
DR PANTHER; PTHR36130; PTHR36130; 1.
DR Pfam; PF15504; DUF4647; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..461
FT /note="Uncharacterized protein C9orf43"
FT /id="PRO_0000089692"
FT REGION 289..374
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 291..307
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 350..366
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 252
FT /note="D -> G (in dbSNP:rs41313331)"
FT /id="VAR_061597"
SQ SEQUENCE 461 AA; 52222 MW; 5091BF1A9AFAD68E CRC64;
MDLPDESQWD ETTCGLAVCQ HPQCWATIRR IERGHPRILG SSCKTPLDAE DKLPVLTVVD
ILDSGFAAHH LPECTFTKAH SLLSQSSKFY SKFHGRPPKG LPDKSLINCT NRLPKFPVLN
LNETQLPCPE DVRNMVVLWI PEETEIHVSQ HGKKKRKNSA VKSKSFLGLS GNQSAGTRVG
TPGMIVPPPT PVQLSEQFSS DFLPLWAQSE ALPQDLLKEL LPGGKQTMLC PEMKIKLAMM
KKNLPLEKNR PDSVISSKMF LSIHRLTLER PALRYPERLK KLHNLKTEGY RKQQQRQQQQ
QQQQKKVKTP IKKQEAKKKA KSDPGIQSTS HKHPVTTVHD RLYGYRTLPG QNSDMKQQQQ
MEKGTTSKQD STERPKMNYY DHADFHHSVK SPELYETEPT NKDISAPVDA VPEAQAARQK
KISFNFSEIM ASTGWNSELK LLRILQDTDD EDEEDQSSGA E