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Gene id 5619
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol PRM1   Gene   UCSC   Ensembl
Aliases CT94.1, P1
Gene name protamine 1
Alternate names sperm protamine P1, cancer/testis antigen family 94, member 1, cysteine-rich protamine, testicular tissue protein Li 91, testis specific protamine 1,
Gene location 16p13.13 (11281334: 11280835)     Exons: 2     NC_000016.10
OMIM 182880

SNPs
rs35576928

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs35262993

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281185C>T
NC_000016.9   g.11375042C>T
NM_002761.3   c.54G>A
NM_002761.2   c.54G>A|SEQ=[C/T]|GENE=PRM1
LOC105371082   105371082

rs2301365

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs737008

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

Protein Summary
Protein general information P04553  

Name: Sperm protamine P1 (Cysteine rich protamine)

Length: 51  Mass: 6,823

Tissue specificity: Calprotectin (S100A8/9) is predominantly expressed in myeloid cells. Except for inflammatory conditions, the expression is restricted to a specific stage of myeloid differentiation since both proteins are expressed in circulating neutr

Sequence MARYRCCRSQSRSRYYRQRQRSRRRRRRSCQTRRRAMRCCRPRYRPRCRRH
Structural information
Interpro:  IPR000221  
Prosite:   PS00048

PDB:  		 2AWR
PDBsum:   2AWR
STRING:   ENSP00000310515
Other Databases GeneCards:  PRM1  Malacards:  PRM1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000786 nucleosome
 IEA cellular component
GO:0003677 DNA binding
 IEA molecular function
GO:0005654 nucleoplasm
 TAS cellular component
GO:0006323 DNA packaging
 TAS biological process
GO:0006997 nucleus organization
 IBA biological process
GO:0007275 multicellular organism de
velopment
 IEA biological process
GO:0007283 spermatogenesis
 TAS biological process
GO:0007286 spermatid development
 IBA biological process
GO:0030261 chromosome condensation
 IBA biological process
GO:0000786 nucleosome
 IEA cellular component
GO:0000786 nucleosome
 IEA cellular component
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 TAS molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005694 chromosome
 IEA cellular component
GO:0005694 chromosome
 IEA cellular component
GO:0006323 DNA packaging
 TAS biological process
GO:0006997 nucleus organization
 IBA biological process
GO:0007275 multicellular organism de
velopment
 IEA biological process
GO:0007283 spermatogenesis
 IEA biological process
GO:0007283 spermatogenesis
 IEA biological process
GO:0007283 spermatogenesis
 TAS biological process
GO:0007286 spermatid development
 IBA biological process
GO:0030154 cell differentiation
 IEA biological process
GO:0030261 chromosome condensation
 IBA biological process
GO:0030261 chromosome condensation
 IEA biological process
GO:0003677 DNA binding
 TAS molecular function
GO:0005654 nucleoplasm
 TAS cellular component
GO:0006323 DNA packaging
 TAS biological process
GO:0006997 nucleus organization
 IBA biological process
GO:0007283 spermatogenesis
 TAS biological process
GO:0007286 spermatid development
 IBA biological process
GO:0030261 chromosome condensation
 IBA biological process

Diseases

Expand All | Collapse All
Associated diseases References
Celiac disease GAD: 20190752
Multiple sclerosis GAD: 22190364
Endometriosis INFBASE: 16126772
Asthenozoospermia MIK: 18292846
Oligoasthenozoospermia MIK: 17494104
Male factor infertility MIK: 24582535
Non obstructive azoospermia MIK: 24582535
Cryptozoospermia MIK: 22104739
Spermatogenesis defects MIK: 23079002
Teratozoospermia MIK: 22574365
Oligozoospermia MIK: 17494104
Varicocele MIK: 24582535
Spermatogenesis defects MIK: 19602509
Abnormal sperm head morphology MIK: 18390561
Azoospermia GAD: 20378615
Abnormal protamine expression and male infertility MIK: 25336347
Associated wih sperm production and male fertility MIK: 20675388
Associated with spermatogenesis and epigenetic regulation MIK: 21674046
Asthenozoospermia MIK: 18292846
Exhibit round spermatids in infertile men MIK: 11278223
Hypospermatogenesis MIK: 28361989
Idiopathic oligozoospermia MIK: 27216534
Male infertility MIK: 12569175
Abnormal sperm head morphology MIK: 18390561
Oligozoospermia MIK: 17494104
Oligoasthenozoospermia MIK: 17494104
Male infertility MIK: 22104739
Teratozoospermia MIK: 22104739
Azoospermia MIK: 22104739
Cryptozoospermia MIK: 22104739
Teratozoospermia MIK: 25536093
Non obstructive azoospermia MIK: 24012201
Sertoli cell only syndrome MIK: 23869807
Spermatogenetic defects MIK: 23079002

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12721220 Oligozoosp
ermic, ast
henospermi
c, Male in
fertility
35 (10 men of p
roven fertility
, 12 oligozoosp
ermic men, and
13 asthenozoosp
ermic men)
 Male infertility
Show abstract
16989827 Male infer
tility
288 (96 fertile
men, 96 severe
ly infertile me
n, and 96 infer
tility patients
)
 Male infertility
Show abstract
18003625 Male infer
tility
196 ((TB; 74 in
fertile men ver
sus 17 controls
), ejaculates (
E; 95 infertile
men versus 10
controls))
 Male infertility
Show abstract
23079002 Spermatoge
netic defe
cts
 PRM1 variant rs35576928 (Arg>Ser) Han Chi
nese
 686 (309 male i
nfertility pati
ents (199 cases
with non-obstr
uctive azoosper
mia and 110 cas
es with severe
oligozoospermia
) and 377 contr
ols)
 Male infertility PRM1
PRM2
 KIT and KITLG
 Show abstract
15705617 Male infer
tility
359 (272 infert
ility patients,
87 fertile don
ors)
 Male infertility protamine-1
protamine-2
 Show abstract
18292846 Asthenozoo
spermic
170 (70 normozo
ospermic, 100 a
sthenozoospermi
c)
 Male infertility PRM1
PRM2
 Show abstract
25536093 Male infer
tility, te
ratozoospe
rmic
138 (72 teratoz
oospermia, 66 n
ormozoospermic)
 Male infertility PRM1
PRM2
and TNP2 
 Show abstract
26472740 Male infer
tility
 rs35576928, rs737008, rs35262993, rs2301365, rs1646022, rs2070923
13517 (7350 cas
es, 6167 contro
ls)
 Male infertility protamine 1
protamine 2
 Show abstract
22574365 Tetrazoosp
ermia
 PRM1(-190C- > A, rs2301365) Chinese
Han
 194 (157 infert
ile men with te
ratozoospermia
(case group), 3
7 age-matched m
ale volunteers
(control group)
)
 Male infertility PRM1
 Show abstract
22104739 Male infer
tility, te
ratozoospe
rmia, azo
ospermia,
cryptozoos
permia
 PRM1 (G54A, G102T, C230A), PRM2 (C246T, G288C, G298C, C373A)
163 (53 normozo
ospermic, 60 te
ratozoospermic,
50 azoospermic
)
 Male infertility PRM1
 Show abstract
19863670 Male infer
tility
 c.54G>A, c.102G>T, c.230A>C Caucasi
an
 248 (88 patient
s with idiopath
ic teratozoospe
rmia, 83 normal
or reduced spe
rm concentratio
n, 77 men with
a high percent
age of normal s
perm morphology
and normal con
centrations)
 Male infertility PRM1
PRM2
 Show abstract
19602509 Spermatoge
nic failur
e
 PRM1(c.65G>A -> p.S22N), PRM2 (-67C>T)
285 (160 contro
l individuals,
125 infertile m
en with either
idiopathic azoo
spermia or olig
ozoospermia)
 Male infertility PRM1
 Show abstract
18390561 Male infer
tility, ab
normal spe
rm head mo
rphology
 PRM1 (-190 C-->A)

Male infertility PRM1
 Show abstract
16199539 Male infer
tility

Male infertility PRM1
 Show abstract
17494104 Male infer
tility, ol
igozoosper
mia, oligo
asthenozoo
spermia
 PRM1 ((c.119G>A, p.Cys40Tyr), (c.102G>T, p.Arg34Ser), c.-107G>C change that is located at -15 bp, c.*51G>C variant was detected in the 3'UTR)
281 men seeking
infertility tr
eatment
 Male infertility PRM1
 Show abstract
18381856 Male infer
tility
 Protamine1 (c.102G->T, c.-107G->C)

Male infrertility Protamine1
 Show abstract
12771233 Male infer
tility
51 infertile ma
les
 Male infertility Prm1
Prm2
 Show abstract
12569175 Male infer
tility
 PRM2 (c248t alteration)
496 (226 steril
e male patients
, 270 proven-fe
rtile male volu
nteers)
 Male infertility PRM1
PRM2
 Show abstract
16870950 Male infer
tility

Male infertility Protamine-1 (P1)
Protamine-2 (P2)
 Show abstract
20675388 Associated
wih sperm
productio
n and male
fertility

Male infertility
Show abstract
20095053 Male steri
lity

Male infertility
Show abstract
29227750 Male facto
r infertil
ity
 PRM1 c.-190C>A, PRM1 c.197G>T, and PRM2 c.248C>T, YBX2 (c.187T>C and c.1095?+?16A>G) Turkish
 200 (100 infert
ile and 100 fer
tile Turkish me
n)
 Male infertility
Show abstract
17943087 Role in sp
ermatogene
sis

Male infertility
Show abstract
11278223 Exhibit ro
und sperma
tids in in
fertile me
n

Male infertility
Show abstract
9356170 Plays a ro
le in sper
matogenesi
s

Male infertility
Show abstract
27216534 Idiopathic
oligozoos
permia
 c.-190 C>A
260 (130 idiopa
thic oligozoosp
ermia, 130 fert
ile men)
 Male infertility
Show abstract
26817310 Male infer
tility
 rs737008

Male infertility
Show abstract
25336347 Abnormal p
rotamine e
xpression
and male i
nfertility

Male infertility
Show abstract
24012201 Non obstru
ctive azoo
spermia
31 (4 controls,
27 cases)
 Male infertility GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
23869807 Non obstru
ctive azoo
spermia, S
ertoli cel
l only syn
drome
20 (4 controls,
16 cases)
 Male infertility GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Associated
with sper
matogenesi
s and epig
enetic reg
ulation
18
 Male infertility GSE26881
 Show abstract
28361989 Hyposperma
togenesis
6 (3 controls,
3 Klienfelter s
yndrome
 Male infertility Microarray
 Show abstract