Reviewed, UniProtKB/Swiss-Prot Q9BXB7 (SPT16_HUMAN)

Names and origin

Protein names

Recommended name:
    Spermatogenesis-associated protein 16
Alternative name(s):
    Testis development protein NYD-SP12

Gene names

Name:

SPATA16

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	569 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and sperm-egg fusion.
Subcellular location	Golgi apparatus. Note= Localized to the perinuclear region.
Tissue specificity	Expressed in testis.
Involvement in disease	Defects in SPATA16 are a cause of globozoospermia [MIM:609856]; also called Round-headed spermatozoa. Most prominent feature of this defect is the malformation of the sperm acrosome leading to infertility. An autosomal recessive variation of SPATA16 has been shown to be responsible for the disease in a consanguineous family with members homozygous for the variation.
Miscellaneous	Association analysis reveals significant frequency of a synonymous (Ser-225) sequence polymorphism among clinical groups with different sperm traits: the donor group, which has the highest sperm count and motility level, has a significant higher polymorphism frequency compared to normal and asthenozoopermia groups.
Sequence similarities	Belongs to the SPATA16 family.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis
Cellular component	Golgi apparatus
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Molecular function	Developmental protein
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 569	569	Spermatogenesis-associated protein 16
Natural variations
	Natural variant	50	1	N → S: dbSNP rs16846624.
	Natural variant	78	1	E → K: dbSNP rs1515441.
	Natural variant	90	1	E → G: dbSNP rs11558933.
	Natural variant	133	1	M → V: dbSNP rs1515442.
	Natural variant	147	1	G → E: dbSNP rs16846616.
	Natural variant	283	1	R → Q in globozoospermia.
	Natural variant	286	1	V → M
	Natural variant	423	1	V → M
	Natural variant	509	1	A → V
	Natural variant	526	1	M → T
	Natural variant	564	1	Q → R

Sequences

	Sequence		Length	Mass (Da)
	Q9BXB7-1 [UniParc]. Last modified October 1, 2001. Version 2. Checksum: B203B6C40DED2CA2	FASTA	569	65,231
	10 20 30 40 50 60 MDAGSSRSLE NAVNRIYHDQ LVPKINTSKK MSTLAHPPNI LEMSQEIKKN CGGKQVEITL 70 80 90 100 110 120 ERTKMTKGIK EKQSNDLEKA AFKRKAEGEE KPTRKKQAKI TELDNQLITM PLPHIPLKNI 130 140 150 160 170 180 MDVEMKLVYI DEMGVRYEFV ESFMSTGSQP TCQAAEIVDP LSVHNFSFLP QIDKWLQVAL 190 200 210 220 230 240 KDASSCYRQK KYALAAGQFR TALELCSKGA VLGEPFDAPA EDIASVASFI ETKLVTCYLR 250 260 270 280 290 300 MRKPDLALNH AHRSIVLNPA YFRNHLRQAT VFRCLERYSE AARSAVIADY MFWLGGGREE 310 320 330 340 350 360 SISKLIKLYW QAMIEEAITR AESFSVMYTP FATKIRADKI EKVKDAFTKT HPAYAEYMYT 370 380 390 400 410 420 DLQALHMLPQ TVDWSSFPPQ QYLLTLGFKN KDDGKFLEKI SSRKLPIFTE HKTPFGLTRE 430 440 450 460 470 480 DTVRQMETMG KRILPILDFI RSTQLNGSFP ASSGVMEKLQ YASLLSQLQR VKEQSQVINQ 490 500 510 520 530 540 AMAELATIPY LQDISQQEAE LLQSLMADAM DTLEGRRNNN ERVWNMIQKV GQIEDFLYQL 550 560 EDSFLKTKKL RTARRQKTKM KRLQTVQQR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of a novel human testis-specific Golgi protein, NYD-SP12." Xu M., Xiao J., Chen J., Li J., Yin L., Zhu H., Zhou Z., Sha J. Mol. Hum. Reprod. 9:9-17(2003) [PubMed: 12529416] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION. Tissue: Testis.
[2]	"Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12." Zhang Q., Zhang F., Chen X.-H., Wang Y.-Q., Wang W.-Q., Lin A.A., Cavalli-Sforza L.L., Jin L., Huo R., Sha J.-H., Li Z., Su B. J. Mol. Evol. 65:154-161(2007) [PubMed: 17665087] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-50; LYS-78; VAL-133; GLU-147; MET-286; MET-423; VAL-509; THR-526 AND ARG-564.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLY-90 AND MET-286.
[4]	"Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia." Dam A.H., Koscinski I., Kremer J.A., Moutou C., Jaeger A.S., Oudakker A.R., Tournaye H., Charlet N., Lagier-Tourenne C., van Bokhoven H., Viville S. Am. J. Hum. Genet. 81:813-820(2007) [PubMed: 17847006] [Abstract] Cited for: VARIANT GLOBOZOOSPERMIA GLN-283.

Cross-references

Sequence databases

EMBLGenBankDDBJ

AF345909 mRNA. Translation: AAK29063.2. AF404758 mRNA. Translation: AAK95642.1. DQ141866 Genomic DNA. Translation: ABA27447.1. DQ141867 Genomic DNA. Translation: ABA27448.1. DQ141868 Genomic DNA. Translation: ABA27449.1. DQ141869 Genomic DNA. Translation: ABA27450.1. DQ141870 Genomic DNA. Translation: ABA27451.1. DQ141871 Genomic DNA. Translation: ABA27452.1. DQ141872 Genomic DNA. Translation: ABA27453.1. DQ141873 Genomic DNA. Translation: ABA27454.1. DQ141874 Genomic DNA. Translation: ABA27455.1. DQ141875 Genomic DNA. Translation: ABA27456.1. DQ141876 Genomic DNA. Translation: ABA27457.1. DQ141877 Genomic DNA. Translation: ABA27458.1. DQ141878 Genomic DNA. Translation: ABA27459.1. DQ141879 Genomic DNA. Translation: ABA27460.1. DQ141880 Genomic DNA. Translation: ABA27461.1. DQ141881 Genomic DNA. Translation: ABA27462.1. DQ141882 Genomic DNA. Translation: ABA27463.1. DQ141883 Genomic DNA. Translation: ABA27464.1. DQ141884 Genomic DNA. Translation: ABA27465.1. DQ141885 Genomic DNA. Translation: ABA27466.1. DQ141886 Genomic DNA. Translation: ABA27467.1. DQ141887 Genomic DNA. Translation: ABA27468.1. DQ141888 Genomic DNA. Translation: ABA27469.1. DQ141889 Genomic DNA. Translation: ABA27470.1. DQ141890 Genomic DNA. Translation: ABA27471.1. DQ141891 Genomic DNA. Translation: ABA27472.1. DQ141892 Genomic DNA. Translation: ABA27473.1. DQ141893 Genomic DNA. Translation: ABA27474.1. DQ141894 Genomic DNA. Translation: ABA27475.1. DQ141895 Genomic DNA. Translation: ABA27476.1. DQ141896 Genomic DNA. Translation: ABA27477.1. DQ141897 Genomic DNA. Translation: ABA27478.1. DQ141898 Genomic DNA. Translation: ABA27479.1. DQ141899 Genomic DNA. Translation: ABA27480.1. DQ141900 Genomic DNA. Translation: ABA27481.1. DQ141901 Genomic DNA. Translation: ABA27482.1. DQ141902 Genomic DNA. Translation: ABA27483.1. DQ141903 Genomic DNA. Translation: ABA27484.1. DQ141904 Genomic DNA. Translation: ABA27485.1. DQ141905 Genomic DNA. Translation: ABA27486.1. DQ141906 Genomic DNA. Translation: ABA27487.1. DQ141907 Genomic DNA. Translation: ABA27488.1. DQ141908 Genomic DNA. Translation: ABA27489.1. DQ141909 Genomic DNA. Translation: ABA27490.1. DQ141910 Genomic DNA. Translation: ABA27491.1. DQ141911 Genomic DNA. Translation: ABA27492.1. DQ141912 Genomic DNA. Translation: ABA27493.1. DQ141913 Genomic DNA. Translation: ABA27494.1. DQ141914 Genomic DNA. Translation: ABA27495.1. DQ141915 Genomic DNA. Translation: ABA27496.1. DQ141916 Genomic DNA. Translation: ABA27497.1. DQ141917 Genomic DNA. Translation: ABA27498.1. DQ141918 Genomic DNA. Translation: ABA27499.1. DQ141919 Genomic DNA. Translation: ABA27500.1. DQ141920 Genomic DNA. Translation: ABA27501.1. DQ141921 Genomic DNA. Translation: ABA27502.1. DQ141922 Genomic DNA. Translation: ABA27503.1. DQ141923 Genomic DNA. Translation: ABA27504.1. DQ141924 Genomic DNA. Translation: ABA27505.1. DQ141925 Genomic DNA. Translation: ABA27506.1. DQ141926 Genomic DNA. Translation: ABA27507.1. DQ141927 Genomic DNA. Translation: ABA27508.1. DQ141928 Genomic DNA. Translation: ABA27509.1. DQ141929 Genomic DNA. Translation: ABA27510.1. DQ141930 Genomic DNA. Translation: ABA27511.1. DQ141931 Genomic DNA. Translation: ABA27512.1. DQ141932 Genomic DNA. Translation: ABA27513.1. DQ141933 Genomic DNA. Translation: ABA27514.1. DQ141934 Genomic DNA. Translation: ABA27515.1. DQ141935 Genomic DNA. Translation: ABA27516.1. DQ141936 Genomic DNA. Translation: ABA27517.1. DQ141937 Genomic DNA. Translation: ABA27518.1. DQ141944 Genomic DNA. Translation: ABA27519.1. DQ141945 Genomic DNA. Translation: ABA27520.1. DQ141946 Genomic DNA. Translation: ABA27521.1. DQ141947 Genomic DNA. Translation: ABA27522.1. DQ141948 Genomic DNA. Translation: ABA27523.1. DQ141949 Genomic DNA. Translation: ABA27524.1. DQ141950 Genomic DNA. Translation: ABA27525.1. DQ141951 Genomic DNA. Translation: ABA27526.1. DQ141952 Genomic DNA. Translation: ABA27527.1. DQ141953 Genomic DNA. Translation: ABA27528.1. DQ141954 Genomic DNA. Translation: ABA27529.1. DQ141955 Genomic DNA. Translation: ABA27530.1. DQ141956 Genomic DNA. Translation: ABA27531.1. DQ141957 Genomic DNA. Translation: ABA27532.1. DQ141958 Genomic DNA. Translation: ABA27533.1. DQ141959 Genomic DNA. Translation: ABA27534.1. DQ141960 Genomic DNA. Translation: ABA27535.1. DQ141961 Genomic DNA. Translation: ABA27536.1. DQ141962 Genomic DNA. Translation: ABA27537.1. DQ141963 Genomic DNA. Translation: ABA27538.1. DQ141964 Genomic DNA. Translation: ABA27539.1. DQ141965 Genomic DNA. Translation: ABA27540.1. DQ141966 Genomic DNA. Translation: ABA27541.1. DQ141967 Genomic DNA. Translation: ABA27542.1. DQ141968 Genomic DNA. Translation: ABA27543.1. DQ141969 Genomic DNA. Translation: ABA27544.1. DQ141970 Genomic DNA. Translation: ABA27545.1. DQ141971 Genomic DNA. Translation: ABA27546.1. DQ141972 Genomic DNA. Translation: ABA27547.1. DQ141973 Genomic DNA. Translation: ABA27548.1. DQ141974 Genomic DNA. Translation: ABA27549.1. DQ141975 Genomic DNA. Translation: ABA27550.1. DQ141976 Genomic DNA. Translation: ABA27551.1. DQ141977 Genomic DNA. Translation: ABA27552.1. DQ141978 Genomic DNA. Translation: ABA27553.1. DQ141979 Genomic DNA. Translation: ABA27554.1. DQ141980 Genomic DNA. Translation: ABA27555.1. DQ141981 Genomic DNA. Translation: ABA27556.1. DQ141982 Genomic DNA. Translation: ABA27557.1. DQ141983 Genomic DNA. Translation: ABA27558.1. DQ141984 Genomic DNA. Translation: ABA27559.1. DQ141985 Genomic DNA. Translation: ABA27560.1. DQ141986 Genomic DNA. Translation: ABA27561.1. DQ141987 Genomic DNA. Translation: ABA27562.1. DQ141988 Genomic DNA. Translation: ABA27563.1. DQ141989 Genomic DNA. Translation: ABA27564.1. DQ141990 Genomic DNA. Translation: ABA27565.1. DQ141991 Genomic DNA. Translation: ABA27566.1. DQ141992 Genomic DNA. Translation: ABA27567.1. DQ141993 Genomic DNA. Translation: ABA27568.1. DQ141994 Genomic DNA. Translation: ABA27569.1. DQ141995 Genomic DNA. Translation: ABA27570.1. DQ141996 Genomic DNA. Translation: ABA27571.1. DQ141997 Genomic DNA. Translation: ABA27572.1. DQ141998 Genomic DNA. Translation: ABA27573.1. DQ141999 Genomic DNA. Translation: ABA27574.1. DQ142000 Genomic DNA. Translation: ABA27575.1. DQ142001 Genomic DNA. Translation: ABA27576.1. DQ142002 Genomic DNA. Translation: ABA27577.1. DQ142003 Genomic DNA. Translation: ABA27578.1. DQ142004 Genomic DNA. Translation: ABA27579.1. DQ142005 Genomic DNA. Translation: ABA27580.1. DQ142006 Genomic DNA. Translation: ABA27581.1. DQ142007 Genomic DNA. Translation: ABA27582.1. DQ142008 Genomic DNA. Translation: ABA27583.1. DQ142009 Genomic DNA. Translation: ABA27584.1. DQ142010 Genomic DNA. Translation: ABA27585.1. DQ142011 Genomic DNA. Translation: ABA27586.1. DQ142012 Genomic DNA. Translation: ABA27587.1. DQ142013 Genomic DNA. Translation: ABA27588.1. DQ142014 Genomic DNA. Translation: ABA27589.1. DQ142015 Genomic DNA. Translation: ABA27590.1. DQ142022 Genomic DNA. Translation: ABA27591.1. DQ142023 Genomic DNA. Translation: ABA27592.1. DQ142024 Genomic DNA. Translation: ABA27593.1. DQ142025 Genomic DNA. Translation: ABA27594.1. DQ142026 Genomic DNA. Translation: ABA27595.1. DQ142027 Genomic DNA. Translation: ABA27596.1. DQ142028 Genomic DNA. Translation: ABA27597.1. DQ142029 Genomic DNA. Translation: ABA27598.1. DQ142030 Genomic DNA. Translation: ABA27599.1. DQ142031 Genomic DNA. Translation: ABA27600.1. DQ142032 Genomic DNA. Translation: ABA27601.1. DQ142033 Genomic DNA. Translation: ABA27602.1. DQ142034 Genomic DNA. Translation: ABA27603.1. DQ142035 Genomic DNA. Translation: ABA27604.1. DQ142036 Genomic DNA. Translation: ABA27605.1. DQ142037 Genomic DNA. Translation: ABA27606.1. DQ142038 Genomic DNA. Translation: ABA27607.1. DQ142039 Genomic DNA. Translation: ABA27608.1. DQ142040 Genomic DNA. Translation: ABA27609.1. DQ142041 Genomic DNA. Translation: ABA27610.1. DQ142042 Genomic DNA. Translation: ABA27611.1. DQ142043 Genomic DNA. Translation: ABA27612.1. DQ142044 Genomic DNA. Translation: ABA27613.1. DQ142045 Genomic DNA. Translation: ABA27614.1. DQ142046 Genomic DNA. Translation: ABA27615.1. DQ142047 Genomic DNA. Translation: ABA27616.1. DQ142048 Genomic DNA. Translation: ABA27617.1. DQ142049 Genomic DNA. Translation: ABA27618.1. DQ142050 Genomic DNA. Translation: ABA27619.1. DQ142051 Genomic DNA. Translation: ABA27620.1. DQ142052 Genomic DNA. Translation: ABA27621.1. DQ142053 Genomic DNA. Translation: ABA27622.1. DQ142054 Genomic DNA. Translation: ABA27623.1. DQ142055 Genomic DNA. Translation: ABA27624.1. DQ142056 Genomic DNA. Translation: ABA27625.1. DQ142057 Genomic DNA. Translation: ABA27626.1. DQ142058 Genomic DNA. Translation: ABA27627.1. DQ142059 Genomic DNA. Translation: ABA27628.1. DQ142060 Genomic DNA. Translation: ABA27629.1. DQ142061 Genomic DNA. Translation: ABA27630.1. DQ142062 Genomic DNA. Translation: ABA27631.1. DQ142063 Genomic DNA. Translation: ABA27632.1. DQ142064 Genomic DNA. Translation: ABA27633.1. DQ142065 Genomic DNA. Translation: ABA27634.1. DQ142066 Genomic DNA. Translation: ABA27635.1. DQ142067 Genomic DNA. Translation: ABA27636.1. DQ142068 Genomic DNA. Translation: ABA27637.1. DQ142069 Genomic DNA. Translation: ABA27638.1. DQ142070 Genomic DNA. Translation: ABA27639.1. DQ142071 Genomic DNA. Translation: ABA27640.1. DQ142072 Genomic DNA. Translation: ABA27641.1. DQ142073 Genomic DNA. Translation: ABA27642.1. DQ142074 Genomic DNA. Translation: ABA27643.1. DQ142075 Genomic DNA. Translation: ABA27644.1. DQ142076 Genomic DNA. Translation: ABA27645.1. DQ142077 Genomic DNA. Translation: ABA27646.1. DQ142078 Genomic DNA. Translation: ABA27647.1. DQ142079 Genomic DNA. Translation: ABA27648.1. DQ142080 Genomic DNA. Translation: ABA27649.1. DQ142081 Genomic DNA. Translation: ABA27650.1. DQ142082 Genomic DNA. Translation: ABA27651.1. DQ142083 Genomic DNA. Translation: ABA27652.1. DQ142084 Genomic DNA. Translation: ABA27653.1. DQ142085 Genomic DNA. Translation: ABA27654.1. DQ142086 Genomic DNA. Translation: ABA27655.1. DQ142087 Genomic DNA. Translation: ABA27656.1. DQ142088 Genomic DNA. Translation: ABA27657.1. DQ142089 Genomic DNA. Translation: ABA27658.1. DQ142090 Genomic DNA. Translation: ABA27659.1. DQ142091 Genomic DNA. Translation: ABA27660.1. DQ142092 Genomic DNA. Translation: ABA27661.1. DQ142093 Genomic DNA. Translation: ABA27662.1. DQ142100 Genomic DNA. Translation: ABA27663.1. DQ142101 Genomic DNA. Translation: ABA27664.1. DQ142102 Genomic DNA. Translation: ABA27665.1. DQ142103 Genomic DNA. Translation: ABA27666.1. DQ142104 Genomic DNA. Translation: ABA27667.1. DQ142105 Genomic DNA. Translation: ABA27668.1. DQ142106 Genomic DNA. Translation: ABA27669.1. DQ142107 Genomic DNA. Translation: ABA27670.1. DQ142108 Genomic DNA. Translation: ABA27671.1. DQ142109 Genomic DNA. Translation: ABA27672.1. DQ142110 Genomic DNA. Translation: ABA27673.1. DQ142111 Genomic DNA. Translation: ABA27674.1. DQ142112 Genomic DNA. Translation: ABA27675.1.