SPT21_HUMAN
ID SPT21_HUMAN Reviewed; 469 AA.
AC Q7Z572; B9EK40; F5GXP5;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Spermatogenesis-associated protein 21;
GN Name=SPATA21;
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] (ISOFORM 1).
RA Shan Y.X., Yu L.;
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
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 GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (DEC-2007) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT LEU-255.
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 [5]
RP VARIANT [LARGE SCALE ANALYSIS] SER-24.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Involved in the differentiation of haploid spermatids.
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q7Z572-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z572-2; Sequence=VSP_053865;
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DR EMBL; AY327405; AAP92797.1; -; mRNA.
DR EMBL; AL358794; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471167; EAW51779.1; -; Genomic_DNA.
DR EMBL; BC150598; AAI50599.1; -; mRNA.
DR CCDS; CCDS172.1; -. [Q7Z572-1]
DR CCDS; CCDS85935.1; -. [Q7Z572-2]
DR RefSeq; NP_940948.1; NM_198546.1. [Q7Z572-1]
DR RefSeq; XP_016856713.1; XM_017001224.1. [Q7Z572-2]
DR AlphaFoldDB; Q7Z572; -.
DR SMR; Q7Z572; -.
DR BioGRID; 131941; 2.
DR IntAct; Q7Z572; 1.
DR STRING; 9606.ENSP00000335612; -.
DR iPTMnet; Q7Z572; -.
DR PhosphoSitePlus; Q7Z572; -.
DR BioMuta; SPATA21; -.
DR DMDM; 215274212; -.
DR EPD; Q7Z572; -.
DR PaxDb; Q7Z572; -.
DR PeptideAtlas; Q7Z572; -.
DR PRIDE; Q7Z572; -.
DR ProteomicsDB; 24483; -.
DR ProteomicsDB; 69262; -. [Q7Z572-1]
DR Antibodypedia; 47956; 68 antibodies from 15 providers.
DR DNASU; 374955; -.
DR Ensembl; ENST00000335496.5; ENSP00000335612.1; ENSG00000187144.11. [Q7Z572-1]
DR Ensembl; ENST00000540400.1; ENSP00000440046.1; ENSG00000187144.11. [Q7Z572-2]
DR GeneID; 374955; -.
DR KEGG; hsa:374955; -.
DR MANE-Select; ENST00000335496.5; ENSP00000335612.1; NM_198546.1; NP_940948.1.
DR UCSC; uc001ayn.3; human. [Q7Z572-1]
DR CTD; 374955; -.
DR DisGeNET; 374955; -.
DR GeneCards; SPATA21; -.
DR HGNC; HGNC:28026; SPATA21.
DR HPA; ENSG00000187144; Tissue enriched (testis).
DR neXtProt; NX_Q7Z572; -.
DR OpenTargets; ENSG00000187144; -.
DR PharmGKB; PA142670886; -.
DR VEuPathDB; HostDB:ENSG00000187144; -.
DR eggNOG; KOG0027; Eukaryota.
DR GeneTree; ENSGT00940000162494; -.
DR HOGENOM; CLU_028005_0_0_1; -.
DR InParanoid; Q7Z572; -.
DR OMA; PCIPLYP; -.
DR OrthoDB; 357989at2759; -.
DR PhylomeDB; Q7Z572; -.
DR TreeFam; TF328393; -.
DR PathwayCommons; Q7Z572; -.
DR SignaLink; Q7Z572; -.
DR BioGRID-ORCS; 374955; 10 hits in 1066 CRISPR screens.
DR ChiTaRS; SPATA21; human.
DR GenomeRNAi; 374955; -.
DR Pharos; Q7Z572; Tdark.
DR PRO; PR:Q7Z572; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q7Z572; protein.
DR Bgee; ENSG00000187144; Expressed in buccal mucosa cell and 116 other tissues.
DR ExpressionAtlas; Q7Z572; baseline and differential.
DR Genevisible; Q7Z572; HS.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR CDD; cd00051; EFh; 1.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR043520; SPT21/EFCAB3.
DR PANTHER; PTHR47500; PTHR47500; 1.
DR SMART; SM00054; EFh; 1.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Coiled coil; Metal-binding;
KW Reference proteome.
FT CHAIN 1..469
FT /note="Spermatogenesis-associated protein 21"
FT /id="PRO_0000330686"
FT DOMAIN 255..290
FT /note="EF-hand"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 1..76
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 99..157
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 424..469
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 198..225
FT /evidence="ECO:0000255"
FT COMPBIAS 107..136
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 142..157
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 268
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 270
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 272
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 274
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 279
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT VAR_SEQ 1..48
FT /note="MDNRNTQMYTEEEKTVNPFLPSTPGPKKAKGGGEAVETHPAPGPLPPP ->
FT MAQPGAVEHACHPSTLGGQGGGSLE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053865"
FT VARIANT 24
FT /note="P -> S (in a breast cancer sample; somatic mutation;
FT dbSNP:rs1343712054)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_042711"
FT VARIANT 53
FT /note="I -> L (in dbSNP:rs12087671)"
FT /id="VAR_042712"
FT VARIANT 184
FT /note="Q -> R (in dbSNP:rs4661746)"
FT /id="VAR_042713"
FT VARIANT 255
FT /note="V -> L (in dbSNP:rs525409)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042714"
FT VARIANT 390
FT /note="N -> K (in dbSNP:rs12133574)"
FT /id="VAR_042715"
FT CONFLICT 417
FT /note="R -> C (in Ref. 4; AAI50599)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 469 AA; 52207 MW; 9F34A50331774C5D CRC64;
MDNRNTQMYT EEEKTVNPFL PSTPGPKKAK GGGEAVETHP APGPLPPPEV RDIGERREPD
RAQQQPQKPA VAAGTQSLGN FRQGFMKCLL EVEKMEASHR RASKARSQTA QKSPRTLTPV
PTSAPSLPQT PASVPASGPS WARLPAPGPE PAPMGAPVPT SMPCPVLLGP ALDLGWRRME
LLHQSSERTL SYAKARQEPE EQSLQKLYQN REKSEEQLTL KQEEAFRSYF EIFNGPGEVD
AQSLKNILLL MGFSVTLAQV EDALMSADVN GDGRVDFKDF LAVMTDTRRF FCSVEQNALS
DMAPHNPHTL LFEILSLLVE MLALPEAVLE EITNYYQKKL KEGTCKAQEM EAAVGRLRLQ
KLPYNPQQEE SSEVPERKVL SILSRLKQQN YAPNLQSPYA QVPCILLCPQ LDKKMVRRQP
SNHYALDQCT PPGLDPDIRS PFFQSGSQGN REHNSDSRKW LSSVPARTH
