H-InvDB_8.3 released on March 26, 2013.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
H-Inv gene family/group (HIF)
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Chromosome number
Chromosome band
Definition*
Data source ID
---
CCDS ID
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HGNC gene name*
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H-Invitational ID:
HIT000192217
Accession number:
L13779
Created date:
26-Mar-2013
Last modified:
20-Apr-2012
Definition:
Similar to Hyaluronidase PH-20; Hyal-PH20; EC=3.2.1.35; Hyaluronoglucosaminidase PH-20; Sperm adhesion molecule 1; Sperm surface protein PH-20; Precursor;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
L13779.1
CAGE tag ID
NA
EST ID
NA
Clone Number
NA
Experimental resources
NBRC
;
HGPD
;
Sequence data provider
NA
Annotation project
NA
Length of cDNA
1675[bp] (No. of exon:8)[A:446 T:505 G:352 C:372]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
testis
Develpmental stage
NA
Sequence quality information
CDS feature
N-truncated
Kozak sequence
NA
PolyA
NA
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
CAGCAG;
Transcript quality feature
Truncation;
Notes
NA
GGAAGTTGCTTCAATGTAGAAATAAAAAGAAATGATGATCTCAGCTGGTT GTGGAATGAAAGCACTGCTCTTTACCCATCCATTTATTTGAACACTCAGC AGTCTCCTGTAGCTGCTACACTCTATGTGCGCAATCGAGTTCGGGAAGCC ATCAGAGTTTCCAAAATACCTGATGCAAAAAGTCCACTTCCGGTTTTTGC ATATACCCGCATAGTTTTTACTGATCAAGTTTTGAAATTCCTTTCTCAAG ATGAACTTGTGTATACATTTGGCGAAACTGTTGCTCTGGGTGCTTCTGGA ATTGTAATATGGGGAACCCTCAGTATAATGCGAAGTATGAAATCTTGCTT GCTCCTAGACAATTACATGGAGACTATACTGAATCCTTACATAATCAACG TCACACTAGCAGCCAAAATGTGTAGCCAAGTGCTTTGCCAGGAGCAAGGA GTGTGTATAAGGAAAAACTGGAATTCAAGTGACTATCTTCACCTCAACCC AGATAATTTTGCTATTCAACTTGAGAAAGGTGGAAAGTTCACAGTACGTG GAAAACCGACACTTGAAGACCTGGAGCAATTTTCTGAAAAATTTTATTGC AGCTGTTATAGCACCTTGAGTTGTAAGGAGAAAGCTGATGTAAAAGACAC TGATGCTGTTGATGTGTGTATTGCTGATGGTGTCTGTATAGATGCTTTTC TAAAACCTCCCATGGAGACAGAAGAACCTCAAATTTTCTACAATGCTTCA CCCTCCACACTATCTGCCACAATGTTCATTGATCTTTGTGACCTGTATCT TGTGCCAACCTCCTATCTCATCCTGTGACTAAGAATACTTAACCTCCTGG GAGGGCAGCTCAGGAGGTGTCAGCCTCATTTTACCCAGCCCTATTCAAGA TGGAGTCACTCTGGTTCCAATGCTTCTGACAGCAGTAGAGATAACACAGT ATTCAAGCAAGAGAACAGAGCTCCTGATCACCTGTGTGCGTCCTTTGAGT GGATGGCAGCTGCATCTCTGCATTACAGCTAGTTAGAATGATGAGTCCTT GCTATGCCTCAAGCACTGTTTCGAGTGTTTGATGTCTATTATCTCACTTC ATCCTCACCAGGACCCCATCCGAGCCTTAATTTCAGTTGACAGTAACTAT TGGATCCCCAGGAATATGTTTGCATATTTGGGGAGAAAATACTATTGGAG GGGAACAGAAATGCTACTAAGGGTCTCACTGTGTCACCCAGGCTGGAGTC CATCAAAGCTCACTGCAGCCTTAACCTTCTGTGCTCAAGGGATCCTCCCA CTTAAGCCTCCTGAGTAGCTGGAACTACAGGCATATGCCACCGAGCCTGG CTAATCTTTGATTTTTTTGTACAGATTGTGTCTCCTTATGTTGCTCAGGC TGGACTCAAACTTCTGGTCTCAAGCGATCTTTCCATCTTAGCTTCCCAAA TTGTTGGAATTATGGACATGAGCCAGTGTGCTTGGCCTGATTTTTTTTTT TTTTTTAATGAGAAAAACGTTCCTTAAGAAAAGTTTCATTGTAAGACGAG GACTTGCTATGTTGCCAGTTTGGTCTTGAACTCGGTCTCAAGTGATTCTC CTGCCTTGGGTTCCCAAAGCGTTTGGGCCGGCAGATGTCAGCCACACCGC GCCTGCCTTATTCTTATAAACTCAA
Gene structure information
H-Inv cluster ID
HIX0007042
Genomic location
Chromosome
7
Location
7q31.32
Position
123594330- 123668755
Strand
+
Possible duplicated location(s)
NA
Gene structure
8 exon(s)
Database links
RefSeq
NM_003117
;
NM_153189
;
NM_001174044
;
NM_001174045
;
NM_001174046
;
Ensembl
ENST00000223028
;
ENST00000340011
;
ENST00000402183
;
ENST00000413927
;
ENST00000439500
;
ENST00000460182
;
ENST00000472838
;
ENST00000476892
;
Entrez Gene
Entrez Gene ID:6677
;
KEGG GENES
KEGG GENES(6677)
;
GeneCard
NA
*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links
H-DBAS
;
G-integra
;
cDNA-genome alignment
;
Predicted CDS information
HIP ID
HIP000012869
Predicted CDS
1..828; 275[aa]; Orientation:+1;
Codon Adaptation Index (CAI).
0.71
GSCFNVEIKRNDDLSWLWNESTALYPSIYLNTQQSPVAATLYVRNRVREA IRVSKIPDAKSPLPVFAYTRIVFTDQVLKFLSQDELVYTFGETVALGASG IVIWGTLSIMRSMKSCLLLDNYMETILNPYIINVTLAAKMCSQVLCQEQG VCIRKNWNSSDYLHLNPDNFAIQLEKGGKFTVRGKPTLEDLEQFSEKFYC SCYSTLSCKEKADVKDTDAVDVCIADGVCIDAFLKPPMETEEPQIFYNAS PSTLSATMFIDLCDLYLVPTSYLIL*
Motif information
a.a.
length
InterPro
Name
263
IPR018155
Hyaluronidase [Family]
139
IPR018155
Hyaluronidase [Family]
133
IPR017853
Glycoside hydrolase, catalytic core [Domain]
133
IPR013785
Aldolase-type TIM barrel [Domain]
263
IPR001439
Glycoside hydrolase, family 56, sperm surface protein PH20 [Family]
15
IPR018155
Hyaluronidase [Family]
14
IPR018155
Hyaluronidase [Family]
16
IPR001439
Glycoside hydrolase, family 56, sperm surface protein PH20 [Family]
15
IPR001439
Glycoside hydrolase, family 56, sperm surface protein PH20 [Family]
15
IPR001439
Glycoside hydrolase, family 56, sperm surface protein PH20 [Family]
15
IPR001439
Glycoside hydrolase, family 56, sperm surface protein PH20 [Family]
Gene function information
H-Inv ID
HIT000192217
H-Inv cluster ID
HIX0007042
Accession number
L13779.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Coding potential
Protein coding;
Definition
Similar to Hyaluronidase PH-20; Hyal-PH20; EC=3.2.1.35; Hyaluronoglucosaminidase PH-20; Sperm adhesion molecule 1; Sperm surface protein PH-20; Precursor;
Similarity category
Category: Similar to known protein(Category II).
Similar to known protein (
P38567
) [Identity/coverage = 100.0%/51.08%] to Homo sapiens (Human). protein.
Experimental evidence
Protein evidence
PubMed ID
8234258
;
8282124
;
8575780
;
9288901
;
12853948
;
21248752
;
ALL
;
Gene family/group
H-Inv gene family/group ID
HIF0000413
Gene family/group name
Putative Hyaluronidase (IPR018155).
Evidence motif (InterPro) ID
IPR018155
Gene symbol/name
HGNC symbol
NA
HGNC aliases
NA
HGNC name
NA
DDBJ
NA
UniProt
SPAM1
EC number
EC 3.2.1.35
hyaluronoglucosaminidase;
GGDB
(GlycoGene Database)
Gene symbol
NA
Familly
NA
Designation
NA
Expression
NA
KEGG metabolic pathway
00531
:Glycosaminoglycan degradation;
01032
:Glycan structures - degradation;
Protein-protein interaction (PPI)
H-Inv protein ID
HIP000012869
No. of interaction
NA
Interaction partner(s)
NA
BIND
NA
DIP
NA
MINT
NA
HPRD
NA
IntAct
NA
Database links
RefSeq
NM_003117
;
NM_153189
;
NM_001174044
;
NM_001174045
;
NM_001174046
;
Ensembl
ENST00000223028
;
ENST00000340011
;
ENST00000402183
;
ENST00000413927
;
ENST00000439500
;
ENST00000460182
;
ENST00000472838
;
ENST00000476892
;
Entrez Gene
Entrez Gene ID:6677
;
KEGG GENES
KEGG GENES(6677)
;
GeneCard
NA
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Auto-annotated
Notes
NA
Related H-InvDB links
Putative Hyaluronidase (IPR018155).
Similarity Search Tool;
TACT
;
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.
NA
Gene ontology information
Molecular function
catalytic activity (
GO:0003824
); hyalurononglucosaminidase activity (
GO:0004415
);
Biological process
fusion of sperm to egg plasma membrane (
GO:0007342
); metabolic process (
GO:0008152
);
Subcellular localization information
Last modified:20-Apr-2012
WoLF PSORT
cytosol; extracellular; mitochondria; Other;
Target P
Other
SOSUI
membrane protein
TMHMM
membrane protein
PTS1
Not targeted
Related H-InvDB links
LIFEdb;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Protein structure information (GTOP)
Last modified:20-Apr-2012
Start
End
PDB_ID
E-value
Identity
Coverage
SCOP_ID
1
22
1fcqA
6e-05
22.7
22/100
c.1.8.9
Related H-InvDB links
GTOP
Gene expression information
Last modified:20-Apr-2012
Tissue-specific expression
NA
Probe
information
AceGene
AGhsA200911;
Affymetrix
GeneChip
HG-Focus
216989_at;
HG-U133
210536_s_at; 216972_at; 216989_at;
HG-U133A
210536_s_at; 216972_at; 216989_at;
HG-U133A_2
210536_s_at; 216972_at; 216989_at;
HG-U133B
NA
HG-U133_Plus_2
210536_s_at; 216972_at; 216989_at;
HG-U95
35129_at;
HG-U95A
35129_at;
HG-U95B
NA
HG-U95C
NA
HG-U95D
NA
HG-U95E
NA
HG-U95Av2
NA
HuEx-1_0
3021843; 3021844; 3021845; 3021846; 3021854; 3021856; 3021862; 3021863;
HuGeneFL
S67798_at;
Agilent
Human 1A Oligo Microarray:PGID215
A_23_P111826;
Whole Human Genome Oligo Microarray:PGID247
A_23_P111826;
Related H-InvDB links
H-ANGEL
;
DNAProbeLocator
;
Disease/pathology information
Last modified:20-Apr-2012
Disease relation
Disease name:NA
Related information in OMIM
OMIM ID:NA Title:NA
Co-localized orphan diseases
OMIM ID:
605635
;
Disease related mutation
NA
Literature-Extracted GENe-Disease Associations (LEGENDA)
Gene name
Entrez Gene ID:(6677)
Disease
Entrez Gene ID:(6677)
Substance
Entrez Gene ID:(6677)
Related H-InvDB links
DiseaseInfo Viewer
;
LEGENDA
;
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
Location
Variation
dbSNP ID
Strand
CDS/UTR
Translation
285 .. 285
T/C
rs34978112
+
CDS
Synonymous[Ala95Ala]
323 .. 323
G/A
rs35268918
+
CDS
Nonsynonymous[Ser108Asn]
576 .. 576
G/A
rs113698779
+
CDS
Synonymous[Glu192Glu]
637 .. 637
G/A
rs35333278
+
CDS
Nonsynonymous[Asp213Asn]
647 .. 647
A/T
rs75168651
+
CDS
Nonsynonymous[Asp216Val]
809 .. 809
C/A
rs112848378
+
CDS
Nonsynonymous[Thr270Asn]
815 ^ 816
-/T
rs35961309
+
CDS
1125 .. 1125
C/A
rs76739120
+
3'UTR
1150 .. 1150
T/G
rs2896338
+
3'UTR
1404 .. 1404
A/G
rs115641800
+
3'UTR
1492 .. 1492
T/-
rs35718972
+
3'UTR
1506 .. 1506
T/A
rs117572352
+
3'UTR
1506 .. 1506
T/-
rs67734863
-
3'UTR
1508 .. 1508
A/T
rs116975986
+
3'UTR
1510 .. 1510
G/T
rs76756246
+
3'UTR
1649 .. 1649
G/A
rs77466997
+
3'UTR
1651 .. 1651
G/A
rs78398928
+
3'UTR
Microsatellite (Short Tandem Repeat, STR)
No data available
Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Repeat
Type
Start
End
Strand
MER41B
781
931
-
MIR
1042
1119
-
AluJr
1220
1487
-
AluJr
1544
1655
-
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;