SHP1L_HUMAN
ID SHP1L_HUMAN Reviewed; 653 AA.
AC Q9BZQ2; Q4G195; Q9BZQ3; Q9H2B6;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2016, sequence version 3.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Testicular spindle-associated protein SHCBP1L {ECO:0000305};
DE AltName: Full=SHC SH2 domain-binding protein 1-like protein {ECO:0000312|HGNC:HGNC:16788};
GN Name=SHCBP1L {ECO:0000312|HGNC:HGNC:16788}; Synonyms=C1orf14;
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 [MRNA] (ISOFORMS 2 AND 3), NUCLEOTIDE SEQUENCE [GENOMIC
RP DNA] (ISOFORM 3), AND TISSUE SPECIFICITY.
RX PubMed=11318611; DOI=10.1006/geno.2001.6500;
RA Sood R., Bonner T.I., Malakowska I., Stephan D.A., Robbins C.M.,
RA Connors T.D., Morgenbesser S.D., Su K., Faruque M.U., Pinkett H.,
RA Graham C., Baxevanis A.D., Klinger K.W., Landes G.M., Trent J.M.,
RA Carpten J.D.;
RT "Cloning and characterization of 13 novel transcripts and the human RGS8
RT gene from the 1q25 region encompassing the hereditary prostate cancer
RT (HPC1) locus.";
RL Genomics 73:211-222(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
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 [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-8, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18220336; DOI=10.1021/pr0705441;
RA Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III;
RT "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient
RT phosphoproteomic analysis.";
RL J. Proteome Res. 7:1346-1351(2008).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=24557841; DOI=10.1093/molehr/gau014;
RA Liu M., Shi X., Bi Y., Qi L., Guo X., Wang L., Zhou Z., Sha J.;
RT "SHCBP1L, a conserved protein in mammals, is predominantly expressed in
RT male germ cells and maintains spindle stability during meiosis in testis.";
RL Mol. Hum. Reprod. 20:463-475(2014).
CC -!- FUNCTION: Testis-specific spindle-associated factor that plays a role
CC in spermatogenesis. In association with HSPA2, participates in the
CC maintenance of spindle integrity during meiosis in male germ cells.
CC {ECO:0000250|UniProtKB:Q3TTP0}.
CC -!- SUBUNIT: Interacts with HSPA2; this interaction may promote the
CC recruitment of HSPA2 to the spindle. {ECO:0000250|UniProtKB:Q3TTP0}.
CC -!- INTERACTION:
CC Q9BZQ2; P55212: CASP6; NbExp=3; IntAct=EBI-10818532, EBI-718729;
CC Q9BZQ2; O00291: HIP1; NbExp=3; IntAct=EBI-10818532, EBI-473886;
CC Q9BZQ2; P13473-2: LAMP2; NbExp=3; IntAct=EBI-10818532, EBI-21591415;
CC Q9BZQ2; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-10818532, EBI-5280197;
CC Q9BZQ2; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-10818532, EBI-2623095;
CC Q9BZQ2; Q9Y2P0: ZNF835; NbExp=3; IntAct=EBI-10818532, EBI-5667516;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle
CC {ECO:0000250|UniProtKB:Q3TTP0}. Note=Colocalizes with alpha tubulin
CC during meiosis. Colocalizes with HSPA2 at spindle during the meiosis
CC process. {ECO:0000250|UniProtKB:Q3TTP0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=3;
CC IsoId=Q9BZQ2-3; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BZQ2-2; Sequence=VSP_024673, VSP_024676;
CC Name=4;
CC IsoId=Q9BZQ2-4; Sequence=VSP_024677, VSP_024678;
CC -!- TISSUE SPECIFICITY: Expressed in spermatocytes and elongating
CC spermatids inside the seminiferous tubules (at protein level)
CC (PubMed:24557841). Testis-specific (PubMed:11318611, PubMed:24557841).
CC {ECO:0000269|PubMed:11318611, ECO:0000269|PubMed:24557841}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG60617.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF288397; AAG60616.1; -; mRNA.
DR EMBL; AF288398; AAG60617.1; ALT_FRAME; mRNA.
DR EMBL; AF297023; AAG45336.1; -; Genomic_DNA.
DR EMBL; AF297016; AAG45336.1; JOINED; Genomic_DNA.
DR EMBL; AF297017; AAG45336.1; JOINED; Genomic_DNA.
DR EMBL; AF297018; AAG45336.1; JOINED; Genomic_DNA.
DR EMBL; AF297019; AAG45336.1; JOINED; Genomic_DNA.
DR EMBL; AF297020; AAG45336.1; JOINED; Genomic_DNA.
DR EMBL; AF297021; AAG45336.1; JOINED; Genomic_DNA.
DR EMBL; AF297022; AAG45336.1; JOINED; Genomic_DNA.
DR EMBL; AF312863; AAG45336.1; JOINED; Genomic_DNA.
DR EMBL; AL662837; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL450304; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC026084; AAH26084.1; -; mRNA.
DR EMBL; BC050305; AAH50305.1; -; mRNA.
DR EMBL; BC132764; AAI32765.1; -; mRNA.
DR CCDS; CCDS30955.1; -. [Q9BZQ2-3]
DR RefSeq; NP_001332857.1; NM_001345928.1. [Q9BZQ2-2]
DR RefSeq; NP_112195.2; NM_030933.3. [Q9BZQ2-3]
DR AlphaFoldDB; Q9BZQ2; -.
DR SMR; Q9BZQ2; -.
DR BioGRID; 123561; 5.
DR IntAct; Q9BZQ2; 8.
DR STRING; 9606.ENSP00000356518; -.
DR iPTMnet; Q9BZQ2; -.
DR PhosphoSitePlus; Q9BZQ2; -.
DR BioMuta; SHCBP1L; -.
DR DMDM; 145558866; -.
DR jPOST; Q9BZQ2; -.
DR MassIVE; Q9BZQ2; -.
DR MaxQB; Q9BZQ2; -.
DR PaxDb; Q9BZQ2; -.
DR PeptideAtlas; Q9BZQ2; -.
DR PRIDE; Q9BZQ2; -.
DR ProteomicsDB; 79887; -. [Q9BZQ2-2]
DR ProteomicsDB; 79888; -. [Q9BZQ2-3]
DR ProteomicsDB; 79889; -. [Q9BZQ2-4]
DR Antibodypedia; 50328; 47 antibodies from 12 providers.
DR DNASU; 81626; -.
DR Ensembl; ENST00000367547.8; ENSP00000356518.3; ENSG00000157060.16. [Q9BZQ2-3]
DR GeneID; 81626; -.
DR KEGG; hsa:81626; -.
DR MANE-Select; ENST00000367547.8; ENSP00000356518.3; NM_030933.4; NP_112195.2.
DR UCSC; uc001gpu.4; human. [Q9BZQ2-3]
DR CTD; 81626; -.
DR GeneCards; SHCBP1L; -.
DR HGNC; HGNC:16788; SHCBP1L.
DR HPA; ENSG00000157060; Tissue enriched (testis).
DR MIM; 619514; gene.
DR neXtProt; NX_Q9BZQ2; -.
DR OpenTargets; ENSG00000157060; -.
DR PharmGKB; PA25603; -.
DR VEuPathDB; HostDB:ENSG00000157060; -.
DR eggNOG; ENOG502QT5S; Eukaryota.
DR GeneTree; ENSGT00940000161173; -.
DR HOGENOM; CLU_022717_0_0_1; -.
DR InParanoid; Q9BZQ2; -.
DR OMA; KMNNNHI; -.
DR OrthoDB; 1276823at2759; -.
DR PhylomeDB; Q9BZQ2; -.
DR TreeFam; TF329196; -.
DR PathwayCommons; Q9BZQ2; -.
DR SignaLink; Q9BZQ2; -.
DR BioGRID-ORCS; 81626; 22 hits in 1061 CRISPR screens.
DR ChiTaRS; SHCBP1L; human.
DR GenomeRNAi; 81626; -.
DR Pharos; Q9BZQ2; Tdark.
DR PRO; PR:Q9BZQ2; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9BZQ2; protein.
DR Bgee; ENSG00000157060; Expressed in sperm and 55 other tissues.
DR Genevisible; Q9BZQ2; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0072687; C:meiotic spindle; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007112; P:male meiosis cytokinesis; IBA:GO_Central.
DR GO; GO:2001252; P:positive regulation of chromosome organization; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR Gene3D; 2.160.20.10; -; 1.
DR InterPro; IPR039448; Beta_helix.
DR InterPro; IPR006633; Carb-bd_sugar_hydrolysis-dom.
DR InterPro; IPR006626; PbH1.
DR InterPro; IPR012334; Pectin_lyas_fold.
DR InterPro; IPR011050; Pectin_lyase_fold/virulence.
DR InterPro; IPR045140; SHCBP1-like.
DR PANTHER; PTHR14695; PTHR14695; 1.
DR Pfam; PF13229; Beta_helix; 1.
DR SMART; SM00722; CASH; 1.
DR SMART; SM00710; PbH1; 4.
DR SUPFAM; SSF51126; SSF51126; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Coiled coil; Cytoplasm; Cytoskeleton;
KW Differentiation; Phosphoprotein; Reference proteome; Repeat;
KW Spermatogenesis.
FT CHAIN 1..653
FT /note="Testicular spindle-associated protein SHCBP1L"
FT /id="PRO_0000284838"
FT REPEAT 493..514
FT /note="PbH1 1"
FT REPEAT 515..537
FT /note="PbH1 2"
FT REPEAT 538..571
FT /note="PbH1 3"
FT REPEAT 574..596
FT /note="PbH1 4"
FT REGION 1..65
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 299..326
FT /evidence="ECO:0000255"
FT MOD_RES 8
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18220336"
FT MOD_RES 53
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3TTP0"
FT MOD_RES 570
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q3TTP0"
FT MOD_RES 645
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q3TTP0"
FT VAR_SEQ 1..119
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11318611"
FT /id="VSP_024673"
FT VAR_SEQ 120..135
FT /note="DEKVSLYCDEVLQDCK -> MGFLQLVRLDSNSRPQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11318611"
FT /id="VSP_024676"
FT VAR_SEQ 136..149
FT /note="AEDADEVMGKYLSE -> KMLMKLWVNTYQKN (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024677"
FT VAR_SEQ 150..653
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024678"
FT VARIANT 491
FT /note="V -> M (in dbSNP:rs12138972)"
FT /id="VAR_031836"
FT CONFLICT 198
FT /note="F -> L (in Ref. 1; AAG60616/AAG60617)"
FT /evidence="ECO:0000305"
FT CONFLICT 249
FT /note="I -> L (in Ref. 1; AAG60616)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 653 AA; 72632 MW; 451E8593E0CCE4FA CRC64;
MASGSKASVP ADSFRTISPD RRGEKSASAV SGDTAAATTL KGTAIPVRSV VASPRPVKGK
AGRETARLRL QRLPAAQAED TGEAAAAAAE EPLLPVPEDE EEAQPLPPVC VSRMRGMWRD
EKVSLYCDEV LQDCKAEDAD EVMGKYLSEK LKLKDKWLGV WKTNPSVFFV KYEEASIPFV
GILVEVTCEP YQDSSSRFKV TVSVAEPFSS NIANIPRDLV DEILEELEHS VPLLEVYPVE
GQDTDIHVIA LALEVVRFFY DFLWRDWDDE ESCENYTALI EERINLWCDI QDGTIPGPIA
QRFKKTLEKY KNKRVELIEY QSNIKEDPSA AEAVECWKKY YEIVMLCGLL KMWEDLRLRV
HGPFFPRILR RRKGKREFGK TITHIVAKMM TTEMIKDLSS DTLLQQHGDL DLALDNCYSG
DTVIIFPGEY QAANLALLTD DIIIKGVGKR EEIMITSEPS RDSFVVSKAD NVKLMHLSLI
QQGTVDGIVV VESGHMTLEN CILKCEGTGV CVLTGAALTI TDSEITGAQG AGVELYPGSI
AILERNEIHH CNNLRTSNSS KSTLGGVNMK VLPAPKLKMT NNHIYSNKGY GVSILQPMEQ
FFIVAEEALN KRASSGDKKD DKMLFKVMQN LNLEMNNNKI EANVKGDIRI VTS
