SPT19_HUMAN
ID SPT19_HUMAN Reviewed; 167 AA.
AC Q7Z5L4; Q8N7A9;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Spermatogenesis-associated protein 19, mitochondrial;
DE AltName: Full=Spermatogenic cell-specific gene 1 protein;
DE Short=Spergen-1;
DE Flags: Precursor;
GN Name=SPATA19; Synonyms=SPERGEN1;
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], TISSUE SPECIFICITY, AND VARIANT VAL-50.
RX PubMed=12688595; DOI=10.1023/a:1021748310102;
RA Miyamoto T., Sengoku K., Hasuike S., Takuma N., Hayashi H., Yamashita T.,
RA Ishikawa M.;
RT "Isolation and expression analysis of the human testis-specific gene,
RT SPERGEN-1, a spermatogenic cell-specific gene-1.";
RL J. Assist. Reprod. Genet. 20:101-104(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
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).
CC -!- FUNCTION: Essential for sperm motility and male fertility (By
CC similarity). Plays an important role in sperm motility by regulating
CC the organization and function of the mitochondria and is also required
CC for correct sperm midpiece assembly (By similarity).
CC {ECO:0000250|UniProtKB:Q9DAQ9}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion outer membrane
CC {ECO:0000250|UniProtKB:Q9DAQ9}. Mitochondrion
CC {ECO:0000250|UniProtKB:Q9DAQ9}. Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q9DAQ9}. Note=Localizes to the midpiece of the
CC sperm flagellum. {ECO:0000250|UniProtKB:Q9DAQ9}.
CC -!- TISSUE SPECIFICITY: Expressed specifically in testis.
CC {ECO:0000269|PubMed:12688595}.
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DR EMBL; AF521713; AAP80739.1; -; mRNA.
DR EMBL; AK098717; BAC05390.1; -; mRNA.
DR EMBL; BC058039; AAH58039.1; -; mRNA.
DR CCDS; CCDS8493.1; -.
DR RefSeq; NP_001278921.1; NM_001291992.1.
DR RefSeq; NP_777587.1; NM_174927.2.
DR AlphaFoldDB; Q7Z5L4; -.
DR BioGRID; 128597; 42.
DR IntAct; Q7Z5L4; 5.
DR STRING; 9606.ENSP00000299140; -.
DR iPTMnet; Q7Z5L4; -.
DR PhosphoSitePlus; Q7Z5L4; -.
DR BioMuta; SPATA19; -.
DR EPD; Q7Z5L4; -.
DR MassIVE; Q7Z5L4; -.
DR PaxDb; Q7Z5L4; -.
DR PeptideAtlas; Q7Z5L4; -.
DR PRIDE; Q7Z5L4; -.
DR ProteomicsDB; 69320; -.
DR Antibodypedia; 46141; 122 antibodies from 25 providers.
DR DNASU; 219938; -.
DR Ensembl; ENST00000299140.8; ENSP00000299140.3; ENSG00000166118.8.
DR Ensembl; ENST00000532889.1; ENSP00000435248.1; ENSG00000166118.8.
DR GeneID; 219938; -.
DR KEGG; hsa:219938; -.
DR MANE-Select; ENST00000299140.8; ENSP00000299140.3; NM_174927.3; NP_777587.1.
DR UCSC; uc001qgv.2; human.
DR CTD; 219938; -.
DR DisGeNET; 219938; -.
DR GeneCards; SPATA19; -.
DR HGNC; HGNC:30614; SPATA19.
DR HPA; ENSG00000166118; Tissue enriched (testis).
DR MIM; 609805; gene.
DR neXtProt; NX_Q7Z5L4; -.
DR OpenTargets; ENSG00000166118; -.
DR PharmGKB; PA142670884; -.
DR VEuPathDB; HostDB:ENSG00000166118; -.
DR eggNOG; ENOG502SAUZ; Eukaryota.
DR GeneTree; ENSGT00390000002749; -.
DR HOGENOM; CLU_149699_0_0_1; -.
DR InParanoid; Q7Z5L4; -.
DR OMA; EHWLKKT; -.
DR OrthoDB; 1465928at2759; -.
DR PhylomeDB; Q7Z5L4; -.
DR TreeFam; TF337965; -.
DR PathwayCommons; Q7Z5L4; -.
DR SignaLink; Q7Z5L4; -.
DR BioGRID-ORCS; 219938; 7 hits in 1069 CRISPR screens.
DR GenomeRNAi; 219938; -.
DR Pharos; Q7Z5L4; Tbio.
DR PRO; PR:Q7Z5L4; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q7Z5L4; protein.
DR Bgee; ENSG00000166118; Expressed in left testis and 78 other tissues.
DR ExpressionAtlas; Q7Z5L4; baseline and differential.
DR Genevisible; Q7Z5L4; HS.
DR GO; GO:0005741; C:mitochondrial outer membrane; ISS:UniProtKB.
DR GO; GO:0036126; C:sperm flagellum; ISS:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0030382; P:sperm mitochondrion organization; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR InterPro; IPR028219; SPATA19.
DR PANTHER; PTHR36468; PTHR36468; 2.
DR Pfam; PF15212; SPATA19; 2.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Developmental protein; Differentiation; Flagellum;
KW Membrane; Mitochondrion; Mitochondrion outer membrane; Phosphoprotein;
KW Reference proteome; Spermatogenesis; Transit peptide.
FT TRANSIT 1..24
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 25..167
FT /note="Spermatogenesis-associated protein 19,
FT mitochondrial"
FT /id="PRO_0000251609"
FT MOD_RES 26
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q920Q3"
FT MOD_RES 129
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q920Q3"
FT VARIANT 50
FT /note="A -> V (in dbSNP:rs2282602)"
FT /evidence="ECO:0000269|PubMed:12688595"
FT /id="VAR_027697"
SQ SEQUENCE 167 AA; 19186 MW; 4FBEFCD966887FEB CRC64;
MIITTWIVYI LARKGVGLPF LPITSSDIDV VESEAVSVLH HWLKKTEEEA SRGIKEKLSI
NHPSQGVREK MSTDSPPTHG QDIHVTRDVV KHHLSKSDLL ANQSQEVLEE RTRIQFIRWS
HTRIFQVPSE MTEDIMRDRI EQVRRSISRL TDVSAQDFSM RPSSSDC
