SACDR_HUMAN
ID SACDR_HUMAN Reviewed; 206 AA.
AC Q8IZ16;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 110.
DE RecName: Full=Sperm acrosome developmental regulator {ECO:0000312|HGNC:HGNC:22135};
GN Name=SPACDR {ECO:0000312|HGNC:HGNC:22135}; Synonyms=C7orf61;
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=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 TISSUE SPECIFICITY.
RX PubMed=23634713; DOI=10.3109/19396368.2013.775396;
RA Behrouzi B., Kenigsberg S., Alladin N., Swanson S., Zicherman J.,
RA Hong S.H., Moskovtsev S.I., Librach C.L.;
RT "Evaluation of potential protein biomarkers in patients with high sperm DNA
RT damage.";
RL Syst. Biol. Reprod. Med. 59:153-163(2013).
RN [4]
RP SUBCELLULAR LOCATION, FUNCTION, AND INVOLVEMENT IN GLOBOZOOSPERMIA.
RX PubMed=31985809; DOI=10.1093/humrep/dez246;
RA Oud M.S., Okutman O., Hendricks L.A.J., de Vries P.F., Houston B.J.,
RA Vissers L.E.L.M., O'Bryan M.K., Ramos L., Chemes H.E., Viville S.,
RA Veltman J.A.;
RT "Exome sequencing reveals novel causes as well as new candidate genes for
RT human globozoospermia.";
RL Hum. Reprod. 35:240-252(2020).
CC -!- FUNCTION: May play a role in acrosome formation and nucleus shaping
CC during spermiogenesis. {ECO:0000269|PubMed:31985809}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000269|PubMed:31985809}. Note=Detected in acrosome of round
CC spermatids and spermatozoa. {ECO:0000269|PubMed:31985809}.
CC -!- TISSUE SPECIFICITY: Expressed in sperm (at protein level).
CC {ECO:0000269|PubMed:23634713}.
CC -!- DISEASE: Note=A variant causing a frameshift predicted to result in a
CC premature termination codon has been found in a patient with
CC globozoospermia. {ECO:0000269|PubMed:31985809}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; CH236956; EAL23832.1; -; Genomic_DNA.
DR EMBL; BC031966; AAH31966.1; -; mRNA.
DR CCDS; CCDS47661.1; -.
DR RefSeq; NP_001004323.1; NM_001004323.1.
DR AlphaFoldDB; Q8IZ16; -.
DR SMR; Q8IZ16; -.
DR BioGRID; 135516; 1.
DR STRING; 9606.ENSP00000327732; -.
DR iPTMnet; Q8IZ16; -.
DR PhosphoSitePlus; Q8IZ16; -.
DR BioMuta; C7orf61; -.
DR DMDM; 74728413; -.
DR MassIVE; Q8IZ16; -.
DR PaxDb; Q8IZ16; -.
DR PeptideAtlas; Q8IZ16; -.
DR PRIDE; Q8IZ16; -.
DR ProteomicsDB; 71268; -.
DR Antibodypedia; 30710; 75 antibodies from 14 providers.
DR DNASU; 402573; -.
DR Ensembl; ENST00000332375.4; ENSP00000327732.3; ENSG00000185955.5.
DR GeneID; 402573; -.
DR KEGG; hsa:402573; -.
DR MANE-Select; ENST00000332375.4; ENSP00000327732.3; NM_001004323.3; NP_001004323.1.
DR UCSC; uc003uuz.1; human.
DR CTD; 402573; -.
DR GeneCards; C7orf61; -.
DR HGNC; HGNC:22135; SPACDR.
DR HPA; ENSG00000185955; Tissue enriched (testis).
DR MIM; 619782; gene.
DR neXtProt; NX_Q8IZ16; -.
DR OpenTargets; ENSG00000185955; -.
DR VEuPathDB; HostDB:ENSG00000185955; -.
DR eggNOG; ENOG502TM6R; Eukaryota.
DR GeneTree; ENSGT00460000041667; -.
DR HOGENOM; CLU_1360014_0_0_1; -.
DR InParanoid; Q8IZ16; -.
DR OMA; WRKITCW; -.
DR OrthoDB; 1476149at2759; -.
DR PhylomeDB; Q8IZ16; -.
DR TreeFam; TF338725; -.
DR PathwayCommons; Q8IZ16; -.
DR SignaLink; Q8IZ16; -.
DR BioGRID-ORCS; 402573; 18 hits in 1061 CRISPR screens.
DR GenomeRNAi; 402573; -.
DR Pharos; Q8IZ16; Tdark.
DR PRO; PR:Q8IZ16; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8IZ16; protein.
DR Bgee; ENSG00000185955; Expressed in left testis and 96 other tissues.
DR ExpressionAtlas; Q8IZ16; baseline and differential.
DR Genevisible; Q8IZ16; HS.
DR GO; GO:0001669; C:acrosomal vesicle; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0007286; P:spermatid development; IMP:UniProtKB.
DR InterPro; IPR031534; DUF4703.
DR PANTHER; PTHR39221; PTHR39221; 1.
DR Pfam; PF15775; DUF4703; 1.
PE 1: Evidence at protein level;
KW Cytoplasmic vesicle; Differentiation; Reference proteome; Spermatogenesis.
FT CHAIN 1..206
FT /note="Sperm acrosome developmental regulator"
FT /id="PRO_0000325782"
FT REGION 180..206
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 206 AA; 23862 MW; DD37281E15CDD4DA CRC64;
MVVVMKFFRW VRRAWQRIIS WVFFWRQKIK PTISGHPDSK KHSLKKMEKT LQVVETLRLV
ELPKEAKPKL GESPELADPC VLAKTTEETE VELGQQGQSL LQLPRTAVKS VSTLMVSALQ
SGWQMCSWKS SVSSASVSSQ VRTQSPLKTP EAELLWEVYL VLWAVRKHLR RLYRRQERHR
RHHVRCHAAP RPNPAQSLKL DAQSPL
