VCX3B_HUMAN
ID VCX3B_HUMAN Reviewed; 246 AA.
AC Q9H321; C9JS46; Q4KN12;
DT 16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT 16-APR-2014, sequence version 4.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=Variable charge X-linked protein 3B;
DE AltName: Full=Variably charged protein X-C;
DE Short=VCX-C;
GN Name=VCX3B; Synonyms=VCXC;
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=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANT THR-15.
RX PubMed=10903929; DOI=10.1086/303047;
RA Fukami M., Kirsch S., Schiller S., Richter A., Benes V., Franco B.,
RA Muroya K., Rao E., Merker S., Niesler B., Ballabio A., Ansorge W.,
RA Ogata T., Rappold G.A.;
RT "A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-
RT linked nonspecific mental retardation.";
RL Am. J. Hum. Genet. 67:563-573(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 -!- FUNCTION: May mediate a process in spermatogenesis or may play a role
CC in sex ratio distortion.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H321-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H321-2; Sequence=VSP_054105;
CC -!- TISSUE SPECIFICITY: Expressed exclusively in testis.
CC -!- SIMILARITY: Belongs to the VCX/VCY family. {ECO:0000305}.
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DR EMBL; AC006062; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF167080; AAG41766.2; -; mRNA.
DR EMBL; BC098143; AAH98143.1; -; mRNA.
DR CCDS; CCDS48077.2; -. [Q9H321-1]
DR RefSeq; NP_001001888.3; NM_001001888.3. [Q9H321-1]
DR AlphaFoldDB; Q9H321; -.
DR STRING; 9606.ENSP00000370420; -.
DR iPTMnet; Q9H321; -.
DR PhosphoSitePlus; Q9H321; -.
DR BioMuta; VCX3B; -.
DR DMDM; 166215027; -.
DR MassIVE; Q9H321; -.
DR PaxDb; Q9H321; -.
DR PeptideAtlas; Q9H321; -.
DR PRIDE; Q9H321; -.
DR ProteomicsDB; 11441; -.
DR ProteomicsDB; 80654; -. [Q9H321-1]
DR DNASU; 425054; -.
DR Ensembl; ENST00000381032.6; ENSP00000370420.1; ENSG00000205642.11. [Q9H321-1]
DR GeneID; 425054; -.
DR KEGG; hsa:425054; -.
DR MANE-Select; ENST00000381032.6; ENSP00000370420.1; NM_001001888.4; NP_001001888.3.
DR UCSC; uc011mht.3; human. [Q9H321-1]
DR CTD; 425054; -.
DR DisGeNET; 425054; -.
DR GeneCards; VCX3B; -.
DR HGNC; HGNC:31838; VCX3B.
DR HPA; ENSG00000205642; Tissue enriched (testis).
DR neXtProt; NX_Q9H321; -.
DR OpenTargets; ENSG00000205642; -.
DR PharmGKB; PA134866686; -.
DR VEuPathDB; HostDB:ENSG00000205642; -.
DR eggNOG; KOG3216; Eukaryota.
DR GeneTree; ENSGT00440000034745; -.
DR InParanoid; Q9H321; -.
DR OMA; MSHGGNC; -.
DR PathwayCommons; Q9H321; -.
DR BioGRID-ORCS; 425054; 12 hits in 257 CRISPR screens.
DR GenomeRNAi; 425054; -.
DR Pharos; Q9H321; Tdark.
DR PRO; PR:Q9H321; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9H321; protein.
DR Bgee; ENSG00000205642; Expressed in right testis and 71 other tissues.
DR ExpressionAtlas; Q9H321; baseline and differential.
DR Genevisible; Q9H321; HS.
DR GO; GO:0005730; C:nucleolus; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0007420; P:brain development; IBA:GO_Central.
DR InterPro; IPR026653; VCX/VCY1.
DR Pfam; PF15231; VCX_VCY; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Repeat.
FT CHAIN 1..246
FT /note="Variable charge X-linked protein 3B"
FT /id="PRO_0000184662"
FT REPEAT 104..113
FT /note="1"
FT REPEAT 114..123
FT /note="2"
FT REPEAT 124..133
FT /note="3"
FT REPEAT 134..143
FT /note="4"
FT REPEAT 144..153
FT /note="5"
FT REPEAT 154..163
FT /note="6"
FT REPEAT 164..173
FT /note="7"
FT REPEAT 174..183
FT /note="8"
FT REPEAT 184..193
FT /note="9"
FT REPEAT 194..203
FT /note="10"
FT REPEAT 204..213
FT /note="11"
FT REPEAT 214..223
FT /note="12"
FT REPEAT 224..233
FT /note="13"
FT REPEAT 234..243
FT /note="14"
FT REGION 1..246
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 104..243
FT /note="14 X 10 AA tandem repeats of L-S-Q-E-S-[EQ]-V-E-E-P"
FT COMPBIAS 36..54
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 119..153
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 154..168
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 169..223
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 224..246
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 169..198
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10903929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_054105"
FT VARIANT 15
FT /note="K -> T (in dbSNP:rs201965035)"
FT /evidence="ECO:0000269|PubMed:10903929"
FT /id="VAR_037644"
FT CONFLICT 98..102
FT /note="GTQHD -> VEE (in Ref. 3; AAH98143)"
FT /evidence="ECO:0000305"
FT CONFLICT 109..110
FT /note="EL -> QV (in Ref. 3; AAH98143)"
FT /evidence="ECO:0000305"
FT CONFLICT 120
FT /note="V -> M (in Ref. 3; AAH98143)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 246 AA; 26878 MW; BAEE4B909BE74AD7 CRC64;
MSPKPRASGP PAKAKEAGKR KSSSQPSPSD PKKKTTKVAK KGKAVRRGRR GKKGAATKMA
AVTAPEAESG PAAPGPSDQP SQELPQHELP PEEPVSEGTQ HDPLSQESEL EEPLSQESEV
EEPLSQESQV EEPLSQESEV EEPLSQESQV EEPLSQESEV EEPLSQESEV EEPLSQESQV
EEPLSQESEV EEPLSQESQV EEPLSQESEM EEPLSQESQV EEPLSQESEM EEPLSQESEM
EELPSV
