TSBP1_HUMAN
ID TSBP1_HUMAN Reviewed; 563 AA.
AC Q5SRN2; A2BET1; A2BET2; A6NME2; B0S7R2; B0S7R3; E9PMB1; Q5SPI9; Q5SPJ0;
AC Q5SPK9; Q5SPL0; Q5SRN3; Q5TG25; Q5TG26; Q8N4B6;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Testis-expressed basic protein 1 {ECO:0000305};
DE AltName: Full=Uncharacterized protein C6orf10 {ECO:0000305};
GN Name=TSBP1 {ECO:0000312|HGNC:HGNC:13922};
GN Synonyms=C6orf10 {ECO:0000312|HGNC:HGNC:13922};
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], AND VARIANTS ARG-30; HIS-36;
RP CYS-69; LEU-128; PHE-150; LEU-161; PRO-170; PRO-227; VAL-315 AND GLN-400.
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ARG-30;
RP HIS-36; CYS-69; LEU-128; PRO-170 AND PRO-227.
RC TISSUE=Brain;
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 -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5SRN2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5SRN2-2; Sequence=VSP_014645, VSP_014646, VSP_014647;
CC Name=3;
CC IsoId=Q5SRN2-3; Sequence=VSP_014645, VSP_055702;
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DR EMBL; AL034394; CAI42178.1; -; Genomic_DNA.
DR EMBL; AL035445; CAI42178.1; JOINED; Genomic_DNA.
DR EMBL; AL034394; CAI42179.1; -; Genomic_DNA.
DR EMBL; AL035445; CAI42179.1; JOINED; Genomic_DNA.
DR EMBL; AL035445; CAI20345.1; -; Genomic_DNA.
DR EMBL; AL034394; CAI20345.1; JOINED; Genomic_DNA.
DR EMBL; AL035445; CAI20346.1; -; Genomic_DNA.
DR EMBL; AL034394; CAI20346.1; JOINED; Genomic_DNA.
DR EMBL; AL662796; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL670296; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL845557; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL671511; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL845509; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX001039; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX119999; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX255945; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX284927; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX908732; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX927180; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC034774; AAH34774.1; -; mRNA.
DR CCDS; CCDS34422.1; -. [Q5SRN2-1]
DR CCDS; CCDS69082.1; -. [Q5SRN2-3]
DR RefSeq; NP_001273403.1; NM_001286474.1. [Q5SRN2-3]
DR RefSeq; NP_001273404.1; NM_001286475.1.
DR RefSeq; NP_006772.3; NM_006781.4. [Q5SRN2-1]
DR AlphaFoldDB; Q5SRN2; -.
DR BioGRID; 115907; 1.
DR STRING; 9606.ENSP00000415517; -.
DR iPTMnet; Q5SRN2; -.
DR PhosphoSitePlus; Q5SRN2; -.
DR BioMuta; C6orf10; -.
DR DMDM; 317373458; -.
DR EPD; Q5SRN2; -.
DR MassIVE; Q5SRN2; -.
DR PaxDb; Q5SRN2; -.
DR PeptideAtlas; Q5SRN2; -.
DR PRIDE; Q5SRN2; -.
DR ProteomicsDB; 22058; -.
DR ProteomicsDB; 63857; -. [Q5SRN2-1]
DR ProteomicsDB; 63858; -. [Q5SRN2-2]
DR Antibodypedia; 45527; 52 antibodies from 12 providers.
DR DNASU; 10665; -.
DR Ensembl; ENST00000375015.8; ENSP00000364155.4; ENSG00000204296.12. [Q5SRN2-2]
DR Ensembl; ENST00000383130.7; ENSP00000372611.3; ENSG00000206245.11. [Q5SRN2-1]
DR Ensembl; ENST00000399749.5; ENSP00000382654.1; ENSG00000206310.8.
DR Ensembl; ENST00000447241.6; ENSP00000415517.2; ENSG00000204296.12. [Q5SRN2-1]
DR Ensembl; ENST00000448986.6; ENSP00000410514.2; ENSG00000206245.11. [Q5SRN2-2]
DR Ensembl; ENST00000457429.5; ENSP00000408514.1; ENSG00000232106.9.
DR Ensembl; ENST00000533191.5; ENSP00000431199.1; ENSG00000204296.12. [Q5SRN2-3]
DR Ensembl; ENST00000548927.4; ENSP00000448472.2; ENSG00000206245.11. [Q5SRN2-3]
DR Ensembl; ENST00000612031.4; ENSP00000480403.1; ENSG00000204296.12. [Q5SRN2-1]
DR Ensembl; ENST00000618584.4; ENSP00000485011.1; ENSG00000206245.11. [Q5SRN2-1]
DR GeneID; 10665; -.
DR KEGG; hsa:10665; -.
DR MANE-Select; ENST00000533191.6; ENSP00000431199.1; NM_001286474.2; NP_001273403.1. [Q5SRN2-3]
DR UCSC; uc011jsa.4; human. [Q5SRN2-1]
DR CTD; 10665; -.
DR DisGeNET; 10665; -.
DR GeneCards; TSBP1; -.
DR HGNC; HGNC:13922; TSBP1.
DR HPA; ENSG00000204296; Tissue enriched (testis).
DR MIM; 618151; gene.
DR neXtProt; NX_Q5SRN2; -.
DR OpenTargets; ENSG00000204296; -.
DR PharmGKB; PA25923; -.
DR VEuPathDB; HostDB:ENSG00000204296; -.
DR eggNOG; ENOG502SCHC; Eukaryota.
DR GeneTree; ENSGT00530000064839; -.
DR HOGENOM; CLU_034814_1_0_1; -.
DR InParanoid; Q5SRN2; -.
DR OMA; IEEPLCK; -.
DR OrthoDB; 1348765at2759; -.
DR PhylomeDB; Q5SRN2; -.
DR TreeFam; TF342352; -.
DR PathwayCommons; Q5SRN2; -.
DR BioGRID-ORCS; 10665; 9 hits in 1051 CRISPR screens.
DR ChiTaRS; C6orf10; human.
DR GeneWiki; C6orf10; -.
DR GenomeRNAi; 10665; -.
DR Pharos; Q5SRN2; Tbio.
DR PRO; PR:Q5SRN2; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5SRN2; protein.
DR Bgee; ENSG00000204296; Expressed in left testis and 42 other tissues.
DR ExpressionAtlas; Q5SRN2; baseline and differential.
DR Genevisible; Q5SRN2; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR InterPro; IPR038754; TSBP1.
DR PANTHER; PTHR14368; PTHR14368; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..563
FT /note="Testis-expressed basic protein 1"
FT /id="PRO_0000089503"
FT TRANSMEM 3..23
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 99..119
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 56..81
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 311..563
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 311..350
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 380..394
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 395..450
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 457..478
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 481..548
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 87..117
FT /note="VSMASKFSLGQTELILLLMCFILALSRSSIG -> ALSRSSIALPQGSMS
FT (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_014645"
FT VAR_SEQ 172
FT /note="A -> VRSHPHTIT (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_014646"
FT VAR_SEQ 193
FT /note="A -> ASQLAAPI (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_014647"
FT VAR_SEQ 193
FT /note="A -> ASQLAAPIIISQRTA (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_055702"
FT VARIANT 30
FT /note="C -> R (in dbSNP:rs3129941)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_022875"
FT VARIANT 36
FT /note="Y -> H (in dbSNP:rs9268384)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_022876"
FT VARIANT 69
FT /note="Y -> C (in dbSNP:rs9268368)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_022877"
FT VARIANT 128
FT /note="P -> L (in dbSNP:rs1033500)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_022878"
FT VARIANT 150
FT /note="I -> F (in dbSNP:rs1265754)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_022879"
FT VARIANT 161
FT /note="P -> L (in dbSNP:rs1003878)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_033068"
FT VARIANT 170
FT /note="S -> P (in dbSNP:rs9405090)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_022880"
FT VARIANT 227
FT /note="S -> P (in dbSNP:rs560505)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_022881"
FT VARIANT 266
FT /note="L -> W (in dbSNP:rs4947338)"
FT /id="VAR_056793"
FT VARIANT 274
FT /note="P -> S (in dbSNP:rs34498363)"
FT /id="VAR_056794"
FT VARIANT 315
FT /note="I -> V (in dbSNP:rs3749966)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_022882"
FT VARIANT 400
FT /note="K -> Q (in dbSNP:rs7775397)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_022883"
FT VARIANT 433
FT /note="A -> T (in dbSNP:rs16870005)"
FT /id="VAR_056795"
FT VARIANT 479
FT /note="G -> V (in dbSNP:rs7751028)"
FT /id="VAR_056796"
SQ SEQUENCE 563 AA; 61626 MW; D5A75E4624FD2E6E CRC64;
MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSYD NRERSKRDYT PSTNSLVSMA SKFSLGQTEL ILLLMCFILA LSRSSIGSIK
CLQTTEEPPS RTAGAMMQFT APIPGATGPI KLSQKTIVQT PGPIVQYPGS NAGPPSAPRG
PPMAPIIISQ RTARIPQVHT MDSSGKITLT PVVILTGYMD EELAKKSCSK IQILKCGGTA
RSQNSREENK EALKNDIIFT NSVESLKSAH IKEPEREGKG TDLEKDKIGM EVKVDSDAGI
PKRQETQLKI SEMSIPQGQG AQIKKSVSDV PRGQESQVKK SESGVPKGQE AQVTKSGLVV
LKGQEAQVEK SEMGVPRRQE SQVKKSQSGV SKGQEAQVKK RESVVLKGQE AQVEKSELKV
PKGQEGQVEK TEADVPKEQE VQEKKSEAGV LKGPESQVKN TEVSVPETLE SQVKKSESGV
LKGQEAQEKK ESFEDKGNND KEKERDAEKD PNKKEKGDKN TKGDKGKDKV KGKRESEING
EKSKGSKRAK ANTGRKYNKK VEE
