ELSPBP1 (epididymal sperm binding protein 1) - Rat Genome Database

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Gene: ELSPBP1 (epididymal sperm binding protein 1) Homo sapiens
Analyze
Symbol: ELSPBP1
Name: epididymal sperm binding protein 1
RGD ID: 1354263
HGNC Page HGNC:14417
Description: Predicted to enable heparin binding activity. Predicted to be involved in sperm capacitation. Predicted to be located in extracellular region. Predicted to be active in cell surface.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: E12; EDDM12; EL149; epididymal protein 12; epididymal secretory protein 12; epididymal sperm-binding protein 1; epididymis luminal secretory protein 149; HE12
RGD Orthologs
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381947,994,632 - 48,025,154 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1947,994,632 - 48,025,154 (+)EnsemblGRCh38hg38GRCh38
GRCh371948,497,889 - 48,528,411 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,189,743 - 53,220,217 (+)NCBINCBI36Build 36hg18NCBI36
Build 341953,189,742 - 53,220,217NCBI
Cytogenetic Map19q13.33NCBI
HuRef1944,879,959 - 44,910,292 (+)NCBIHuRef
CHM1_11948,499,819 - 48,530,347 (+)NCBICHM1_1
T2T-CHM13v2.01950,986,959 - 51,017,515 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function
heparin binding  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8159721   PMID:8889548   PMID:9013644   PMID:9372912   PMID:9409784   PMID:10502414   PMID:11118214   PMID:11144225   PMID:12477932   PMID:15280210   PMID:17307309   PMID:17910069  
PMID:19828133   PMID:19950203   PMID:20195544   PMID:20503194   PMID:20714342   PMID:21873635   PMID:22449649   PMID:25009770   PMID:25817725   PMID:33961781  


Genomics

Comparative Map Data
ELSPBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381947,994,632 - 48,025,154 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1947,994,632 - 48,025,154 (+)EnsemblGRCh38hg38GRCh38
GRCh371948,497,889 - 48,528,411 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,189,743 - 53,220,217 (+)NCBINCBI36Build 36hg18NCBI36
Build 341953,189,742 - 53,220,217NCBI
Cytogenetic Map19q13.33NCBI
HuRef1944,879,959 - 44,910,292 (+)NCBIHuRef
CHM1_11948,499,819 - 48,530,347 (+)NCBICHM1_1
T2T-CHM13v2.01950,986,959 - 51,017,515 (+)NCBIT2T-CHM13v2.0
Elspbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955609229,332 - 241,987 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955609227,424 - 241,987 (-)NCBIChiLan1.0ChiLan1.0
ELSPBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22054,110,726 - 54,124,371 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11955,980,611 - 55,994,256 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01944,950,665 - 44,964,314 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11953,601,043 - 53,614,713 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1953,601,043 - 53,614,713 (+)Ensemblpanpan1.1panPan2
ELSPBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11108,159,609 - 108,187,224 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1108,159,611 - 108,188,076 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1107,642,613 - 107,669,907 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01108,685,570 - 108,713,065 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1108,685,572 - 108,713,154 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11108,330,509 - 108,357,988 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01107,998,546 - 108,025,876 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01108,866,432 - 108,893,760 (-)NCBIUU_Cfam_GSD_1.0
ELSPBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl653,583,965 - 53,603,366 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1653,583,965 - 53,603,746 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2649,168,387 - 49,187,813 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ELSPBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1641,251,829 - 41,273,841 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl641,258,674 - 41,272,077 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607321,034,140 - 21,057,407 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Elspbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248325,770,992 - 5,792,905 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ELSPBP1
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh37/hg19 19q13.33(chr19:48345470-48575975)x3 copy number gain See cases [RCV000240458] Chr19:48345470..48575975 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.67G>A (p.Gly23Arg) single nucleotide variant not specified [RCV004292800] Chr19:48008734 [GRCh38]
Chr19:48511991 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_022142.5(ELSPBP1):c.56A>G (p.Tyr19Cys) single nucleotide variant not specified [RCV004322139] Chr19:48008723 [GRCh38]
Chr19:48511980 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536) copy number gain not provided [RCV000767770] Chr19:47036361..48525536 [GRCh37]
Chr19:19q13.32-13.33
pathogenic
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42
not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NC_000019.9:g.(?_48337701)_(48725132_?)dup duplication Leber congenital amaurosis 7 [RCV002004465] Chr19:48337701..48725132 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.557T>C (p.Phe186Ser) single nucleotide variant not specified [RCV004192199] Chr19:48022212 [GRCh38]
Chr19:48525469 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.418G>C (p.Val140Leu) single nucleotide variant not specified [RCV004205944] Chr19:48019781 [GRCh38]
Chr19:48523038 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.308C>T (p.Thr103Ile) single nucleotide variant not specified [RCV004074724] Chr19:48015992 [GRCh38]
Chr19:48519249 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.394C>A (p.Pro132Thr) single nucleotide variant not specified [RCV004251070] Chr19:48019757 [GRCh38]
Chr19:48523014 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.291T>G (p.Ser97Arg) single nucleotide variant not specified [RCV004269298] Chr19:48015975 [GRCh38]
Chr19:48519232 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.447C>A (p.Asn149Lys) single nucleotide variant not specified [RCV004289936] Chr19:48019810 [GRCh38]
Chr19:48523067 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.115G>C (p.Val39Leu) single nucleotide variant not specified [RCV004323997] Chr19:48014215 [GRCh38]
Chr19:48517472 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.493T>C (p.Trp165Arg) single nucleotide variant not specified [RCV004382426] Chr19:48019856 [GRCh38]
Chr19:48523113 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.285A>C (p.Leu95Phe) single nucleotide variant not specified [RCV004382425] Chr19:48015969 [GRCh38]
Chr19:48519226 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_022142.5(ELSPBP1):c.599G>A (p.Gly200Glu) single nucleotide variant not specified [RCV004382427] Chr19:48022254 [GRCh38]
Chr19:48525511 [GRCh37]
Chr19:19q13.33
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:488
Count of miRNA genes:193
Interacting mature miRNAs:204
Transcripts:ENST00000339841, ENST00000593413, ENST00000593782, ENST00000596043, ENST00000597519
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D19S541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,519,590 - 48,519,995UniSTSGRCh37
Build 361953,211,402 - 53,211,807RGDNCBI36
Cytogenetic Map19q13.33UniSTS
HuRef1944,901,628 - 44,902,005UniSTS
ELSPBP1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,522,976 - 48,523,083UniSTSGRCh37
Celera1945,388,577 - 45,388,684UniSTS
HuRef1944,904,986 - 44,905,093UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 2 3 2 3 6 1
Low 3 4 1 4 1 11 6 70 26 360 8
Below cutoff 281 470 297 57 281 38 715 250 638 102 215 249 19 168 468

Sequence


RefSeq Acc Id: ENST00000339841   ⟹   ENSP00000340660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,994,632 - 48,025,154 (+)Ensembl
RefSeq Acc Id: ENST00000593413   ⟹   ENSP00000470551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,019,805 - 48,025,148 (+)Ensembl
RefSeq Acc Id: ENST00000593782   ⟹   ENSP00000472960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,015,893 - 48,025,134 (+)Ensembl
RefSeq Acc Id: ENST00000596043   ⟹   ENSP00000470903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,994,705 - 48,022,243 (+)Ensembl
RefSeq Acc Id: ENST00000597519   ⟹   ENSP00000471690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,994,709 - 48,025,153 (+)Ensembl
RefSeq Acc Id: ENST00000619003   ⟹   ENSP00000481506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,008,649 - 48,025,142 (+)Ensembl
RefSeq Acc Id: NM_022142   ⟹   NP_071425
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381947,994,632 - 48,025,154 (+)NCBI
GRCh371948,497,908 - 48,528,410 (+)RGD
Build 361953,189,743 - 53,220,217 (+)NCBI Archive
HuRef1944,879,959 - 44,910,292 (+)ENTREZGENE
CHM1_11948,499,819 - 48,530,347 (+)NCBI
T2T-CHM13v2.01950,986,959 - 51,017,515 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027130   ⟹   XP_016882619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,007,082 - 48,025,154 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439213   ⟹   XP_047295169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,007,082 - 48,022,376 (+)NCBI
RefSeq Acc Id: XM_054321739   ⟹   XP_054177714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01950,999,407 - 51,017,515 (+)NCBI
RefSeq Acc Id: XM_054321740   ⟹   XP_054177715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01950,999,407 - 51,014,679 (+)NCBI
RefSeq Acc Id: NP_071425   ⟸   NM_022142
- Peptide Label: precursor
- UniProtKB: Q96RT0 (UniProtKB/Swiss-Prot),   Q9H4C8 (UniProtKB/Swiss-Prot),   Q96BH3 (UniProtKB/Swiss-Prot),   A0A384NKL6 (UniProtKB/TrEMBL),   K9JA26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016882619   ⟸   XM_017027130
- Peptide Label: isoform X1
- UniProtKB: K9JA26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000470903   ⟸   ENST00000596043
RefSeq Acc Id: ENSP00000471690   ⟸   ENST00000597519
RefSeq Acc Id: ENSP00000340660   ⟸   ENST00000339841
RefSeq Acc Id: ENSP00000481506   ⟸   ENST00000619003
RefSeq Acc Id: ENSP00000470551   ⟸   ENST00000593413
RefSeq Acc Id: ENSP00000472960   ⟸   ENST00000593782
RefSeq Acc Id: XP_047295169   ⟸   XM_047439213
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177714   ⟸   XM_054321739
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177715   ⟸   XM_054321740
- Peptide Label: isoform X1
Protein Domains
Fibronectin type-II

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96BH3-F1-model_v2 AlphaFold Q96BH3 1-223 view protein structure

Promoters
RGD ID:13204913
Promoter ID:EPDNEW_H26039
Type:initiation region
Name:ELSPBP1_1
Description:epididymal sperm binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381947,994,687 - 47,994,747EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC ELSPBP1 COSMIC
Ensembl Genes ENSG00000169393 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000339841 ENTREZGENE
  ENST00000339841.7 UniProtKB/Swiss-Prot
  ENST00000593413.1 UniProtKB/TrEMBL
  ENST00000593782.1 UniProtKB/TrEMBL
  ENST00000596043.5 UniProtKB/TrEMBL
  ENST00000597519.5 UniProtKB/TrEMBL
Gene3D-CATH 2.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169393 GTEx
HGNC ID HGNC:14417 ENTREZGENE
Human Proteome Map ELSPBP1 Human Proteome Map
InterPro FN_type2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN_type2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 64100 ENTREZGENE
OMIM 607443 OMIM
PANTHER EPIDIDYMAL SPERM-BINDING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEMINAL PLASMA PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam fn2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27765 PharmGKB
PRINTS FNTYPEII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FN2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NKL6 ENTREZGENE, UniProtKB/TrEMBL
  ESPB1_HUMAN UniProtKB/Swiss-Prot
  K9JA26 ENTREZGENE, UniProtKB/TrEMBL
  M0QZH6_HUMAN UniProtKB/TrEMBL
  M0R006_HUMAN UniProtKB/TrEMBL
  M0R179_HUMAN UniProtKB/TrEMBL
  M0R331_HUMAN UniProtKB/TrEMBL
  Q96BH3 ENTREZGENE
  Q96RT0 ENTREZGENE
  Q9H4C8 ENTREZGENE
UniProt Secondary Q96RT0 UniProtKB/Swiss-Prot
  Q9H4C8 UniProtKB/Swiss-Prot