CI131_HUMAN
ID CI131_HUMAN Reviewed; 1079 AA.
AC Q5VYM1; A6NLE6; E9PB26; Q86XC6; Q9UF74;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=Uncharacterized protein C9orf131;
GN Name=C9orf131;
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] (ISOFORM 1), AND VARIANT LEU-222.
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 929-1079 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5VYM1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VYM1-2; Sequence=VSP_046224;
CC Name=3;
CC IsoId=Q5VYM1-3; Sequence=VSP_046225;
CC -!- CAUTION: It is uncertain whether Met-1 or Met-15 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH45643.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL353795; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC045643; AAH45643.1; ALT_INIT; mRNA.
DR EMBL; AL133575; CAB63722.1; -; mRNA.
DR CCDS; CCDS47961.1; -. [Q5VYM1-2]
DR CCDS; CCDS47962.1; -. [Q5VYM1-3]
DR CCDS; CCDS6572.2; -. [Q5VYM1-1]
DR PIR; T43478; T43478.
DR RefSeq; NP_001035500.1; NM_001040410.2.
DR RefSeq; NP_001035501.1; NM_001040411.2. [Q5VYM1-3]
DR RefSeq; NP_001035502.1; NM_001040412.2. [Q5VYM1-2]
DR RefSeq; NP_001274320.1; NM_001287391.1.
DR RefSeq; NP_976044.2; NM_203299.3. [Q5VYM1-1]
DR AlphaFoldDB; Q5VYM1; -.
DR BioGRID; 126520; 3.
DR IntAct; Q5VYM1; 3.
DR STRING; 9606.ENSP00000308279; -.
DR iPTMnet; Q5VYM1; -.
DR PhosphoSitePlus; Q5VYM1; -.
DR BioMuta; C9orf131; -.
DR DMDM; 212276515; -.
DR EPD; Q5VYM1; -.
DR jPOST; Q5VYM1; -.
DR MassIVE; Q5VYM1; -.
DR PaxDb; Q5VYM1; -.
DR PeptideAtlas; Q5VYM1; -.
DR PRIDE; Q5VYM1; -.
DR ProteomicsDB; 1470; -.
DR ProteomicsDB; 19128; -.
DR ProteomicsDB; 65638; -. [Q5VYM1-1]
DR Antibodypedia; 50361; 63 antibodies from 4 providers.
DR DNASU; 138724; -.
DR Ensembl; ENST00000312292.6; ENSP00000308279.5; ENSG00000174038.13. [Q5VYM1-1]
DR Ensembl; ENST00000354479.5; ENSP00000346472.5; ENSG00000174038.13. [Q5VYM1-3]
DR Ensembl; ENST00000421362.6; ENSP00000393683.2; ENSG00000174038.13. [Q5VYM1-2]
DR GeneID; 138724; -.
DR KEGG; hsa:138724; -.
DR MANE-Select; ENST00000312292.6; ENSP00000308279.5; NM_203299.4; NP_976044.2.
DR UCSC; uc003zvu.5; human. [Q5VYM1-1]
DR CTD; 138724; -.
DR GeneCards; C9orf131; -.
DR HGNC; HGNC:31418; C9orf131.
DR HPA; ENSG00000174038; Tissue enriched (testis).
DR neXtProt; NX_Q5VYM1; -.
DR OpenTargets; ENSG00000174038; -.
DR PharmGKB; PA145149697; -.
DR VEuPathDB; HostDB:ENSG00000174038; -.
DR eggNOG; ENOG502RJ23; Eukaryota.
DR GeneTree; ENSGT00390000000748; -.
DR HOGENOM; CLU_010861_0_0_1; -.
DR InParanoid; Q5VYM1; -.
DR OMA; WHWSREL; -.
DR OrthoDB; 200462at2759; -.
DR PhylomeDB; Q5VYM1; -.
DR TreeFam; TF337467; -.
DR PathwayCommons; Q5VYM1; -.
DR SignaLink; Q5VYM1; -.
DR BioGRID-ORCS; 138724; 46 hits in 1061 CRISPR screens.
DR GenomeRNAi; 138724; -.
DR Pharos; Q5VYM1; Tdark.
DR PRO; PR:Q5VYM1; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5VYM1; protein.
DR Bgee; ENSG00000174038; Expressed in left testis and 141 other tissues.
DR ExpressionAtlas; Q5VYM1; baseline and differential.
DR Genevisible; Q5VYM1; HS.
DR InterPro; IPR026677; UPF_C9orf131.
DR PANTHER; PTHR21777; PTHR21777; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..1079
FT /note="Uncharacterized protein C9orf131"
FT /id="PRO_0000294443"
FT REGION 97..145
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 261..281
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 297..317
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 331..362
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 376..412
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 506..566
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 637..678
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 840..975
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 642..662
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 843..881
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 927..944
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..76
FT /note="MEWLLEDLLGAKGDMGLLWGQLTHALACRHCGSSCFQSPGNLVTLFLFVVWQ
FT IQRWWQLGRLRQLHPWCSGNMVQG -> MLR (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046225"
FT VAR_SEQ 1..52
FT /note="MEWLLEDLLGAKGDMGLLWGQLTHALACRHCGSSCFQSPGNLVTLFLFVVWQ
FT -> MLRK (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_046224"
FT VARIANT 222
FT /note="W -> L (in dbSNP:rs615474)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047239"
FT VARIANT 285
FT /note="L -> F (in dbSNP:rs10117097)"
FT /id="VAR_047240"
FT VARIANT 437
FT /note="L -> V (in dbSNP:rs35523761)"
FT /id="VAR_047241"
FT VARIANT 623
FT /note="S -> T (in dbSNP:rs2298312)"
FT /id="VAR_047242"
FT VARIANT 916
FT /note="P -> S (in dbSNP:rs3739871)"
FT /id="VAR_047243"
FT CONFLICT 218
FT /note="S -> Y (in Ref. 2; AAH45643)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1079 AA; 117724 MW; 8BC7A94F771E468E CRC64;
MEWLLEDLLG AKGDMGLLWG QLTHALACRH CGSSCFQSPG NLVTLFLFVV WQIQRWWQLG
RLRQLHPWCS GNMVQGKELP LLHRVAFLDH LCKQKSEVEE EGEEEEEGED EASLDPLKPC
SPTKEAPTGE QATPAPPQPS CGSEGLLKAI GIPEQTVMQP VSPSRSFPIF QILTSFPVRH
KIASGNRQQQ RKSQLFWGLP SLHSESLEAI FLSSGGPSPL KWSVCSSVFF NKLAFLPRSN
LLLPQYHSSA QFSTHGAHTM EDLEGMAPDP QLLPPPSSPS VSSLLLHLRP FPVDHKGVLS
GAEAPTQSPG TSPLEVLPGY ETHLETTGHK KMPQAFEPPM PPPCQSPASL SEPRKVSPEG
GLAISKDFWG TVGYREKPQA SESSMPVPCP PLDSLPELQR ESSLEDPSRY KPQWECRENS
GNLWAFESPV LDLNPELSGT SPECVPPASE TPWKGMQSRE NIWVPADPVS PPSLPSVPLL
ESLVMGPQGV LSESKALWET MGQKENLWAS DSPDPVHSTP PTTLMEPHRI NPGECLATSE
ATWKDTEHSR NSSASRSPSL ALSPPPALAP ELLRVRSMGV LSDSEARCGD IQKTKNSWAS
KHPACNLPQD LHGASPLGVL SDSQSIVGEM EQKENCVPVF PGRGSSPSSN SVSKSHVSEP
IADQSNYKPD GEAVEQRKNH WATELPAPSS LSTPLPEPHI DLELVWRNVQ QREVPQGPSP
LAVDPLHPVP QPPTLAEAVK IERTHPGLPK GVTCPGVKAE APLSQRWTVP ELLTHPGIHA
WQWSRELKLR LKKLRQSPAS RAPGPSQSFC SSPILSSTIP DFWGLPSCPP QQIYPPNPCP
HSSSCHPQEV QRTVPQPVQS SHCHHFQSSS QLQPQESGRA EQGSQRGEKM KGKMVSQVPS
QGPCVHMEAG VDYLSPGPGE PSNSKVLVSG KRKDKASASS SAKKREHPRK PKAGDHRRGT
ARLGLSTVTG KNHPAQARSL VEAPVSTFPQ RSQHRGQSSQ HTALPQLLLP KASGPQDQPE
AGRRASDILT PRHCKHCPWA HMEKYLSFPT LKASLTRGLQ KVLAKCLDNH RPLPTKSSQ
