SPRR1B (small proline rich protein 1B) - Rat Genome Database

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Gene: SPRR1B (small proline rich protein 1B) Homo sapiens
Analyze
Symbol: SPRR1B
Name: small proline rich protein 1B
RGD ID: 1323772
HGNC Page HGNC:11260
Description: Predicted to enable structural molecule activity. Involved in keratinocyte differentiation. Located in cornified envelope.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 14.9 kDa pancornulin; cornifin; cornifin B; cornifin-B; GADD33; MGC61901; small proline-rich protein 1B; small proline-rich protein IB; SPR-IB; SPRR1
RGD Orthologs
Mouse
Rat
Bonobo
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381153,031,203 - 153,032,900 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1153,031,203 - 153,032,900 (+)EnsemblGRCh38hg38GRCh38
GRCh371153,003,679 - 153,005,376 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361151,270,303 - 151,272,000 (+)NCBINCBI36Build 36hg18NCBI36
Build 341149,816,753 - 149,818,449NCBI
Celera1126,074,469 - 126,076,154 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1124,366,771 - 124,368,468 (+)NCBIHuRef
CHM1_11154,399,498 - 154,401,193 (+)NCBICHM1_1
T2T-CHM13v2.01152,167,945 - 152,169,640 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cornified envelope  (IDA,TAS)
cytoplasm  (IEA,TAS)
cytosol  (TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1438308   PMID:1482123   PMID:1627333   PMID:3133554   PMID:7829876   PMID:8325635   PMID:8388378   PMID:8631988   PMID:8889548   PMID:9115270   PMID:10908733   PMID:12091247  
PMID:12477932   PMID:12832281   PMID:15489334   PMID:16710414   PMID:18172072   PMID:18643845   PMID:19601998   PMID:20360068   PMID:21873635   PMID:23376485   PMID:23954638   PMID:24981860  
PMID:26618866   PMID:27304082   PMID:27705803   PMID:28514442   PMID:28859701   PMID:29509190   PMID:30561431   PMID:30737378   PMID:31091453   PMID:33501784   PMID:33620575   PMID:33961781  
PMID:34808501  


Genomics

Comparative Map Data
SPRR1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381153,031,203 - 153,032,900 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1153,031,203 - 153,032,900 (+)EnsemblGRCh38hg38GRCh38
GRCh371153,003,679 - 153,005,376 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361151,270,303 - 151,272,000 (+)NCBINCBI36Build 36hg18NCBI36
Build 341149,816,753 - 149,818,449NCBI
Celera1126,074,469 - 126,076,154 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1124,366,771 - 124,368,468 (+)NCBIHuRef
CHM1_11154,399,498 - 154,401,193 (+)NCBICHM1_1
T2T-CHM13v2.01152,167,945 - 152,169,640 (+)NCBIT2T-CHM13v2.0
Sprr1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39392,344,115 - 92,346,124 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl392,344,116 - 92,346,096 (-)EnsemblGRCm39 Ensembl
GRCm38392,436,808 - 92,438,817 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl392,436,809 - 92,438,789 (-)EnsemblGRCm38mm10GRCm38
MGSCv37392,240,731 - 92,242,701 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36392,522,212 - 92,524,182 (-)NCBIMGSCv36mm8
Celera394,643,844 - 94,645,814 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map340.14NCBI
Sprr1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82180,704,457 - 180,706,355 (-)NCBIGRCr8
mRatBN7.22178,008,844 - 178,010,742 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2178,009,130 - 178,009,567 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.02192,622,972 - 192,624,848 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2192,623,244 - 192,623,681 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02212,246,504 - 212,246,941 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42185,418,131 - 185,418,568 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2172,247,602 - 172,249,482 (+)NCBICelera
Cytogenetic Map2q34NCBI
SPRR1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2196,813,096 - 96,814,793 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1196,564,251 - 96,565,948 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01128,374,301 - 128,375,993 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11132,004,333 - 132,006,025 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1132,005,471 - 132,005,740 (+)Ensemblpanpan1.1panPan2
SPRP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl496,588,992 - 96,590,696 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1496,588,991 - 96,590,696 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24105,524,807 - 105,526,512 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SPRR1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12010,696,266 - 10,699,361 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2010,696,549 - 10,696,818 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603810,166,808 - 10,168,759 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sprr1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624885523,256 - 525,503 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SPRR1B
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.3(chr1:152951169-153495655)x3 copy number gain See cases [RCV000136561] Chr1:152951169..153495655 [GRCh38]
Chr1:152923645..153468131 [GRCh37]
Chr1:151190269..151734755 [NCBI36]
Chr1:1q21.3		 uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_003125.3(SPRR1B):c.181G>C (p.Val61Leu) single nucleotide variant Inborn genetic diseases [RCV003281831] Chr1:153032526 [GRCh38]
Chr1:153005002 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_003125.3(SPRR1B):c.52C>A (p.Gln18Lys) single nucleotide variant Inborn genetic diseases [RCV003254424] Chr1:153032397 [GRCh38]
Chr1:153004873 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
GRCh37/hg19 1q21.3(chr1:152648864-153286218)x3 copy number gain not provided [RCV002475654] Chr1:152648864..153286218 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
NM_003125.3(SPRR1B):c.198C>G (p.His66Gln) single nucleotide variant Inborn genetic diseases [RCV003381438] Chr1:153032543 [GRCh38]
Chr1:153005019 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3(chr1:152976928-153106311)x1 copy number loss not provided [RCV003483394] Chr1:152976928..153106311 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:393
Count of miRNA genes:281
Interacting mature miRNAs:288
Transcripts:ENST00000307098, ENST00000392661
Prediction methods: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
D1S2400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,005,099 - 153,005,374UniSTSGRCh37
Build 361151,271,723 - 151,271,998RGDNCBI36
Celera1126,075,877 - 126,076,152RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1124,368,191 - 124,368,466UniSTS
TNG Radiation Hybrid Map168585.0UniSTS
GeneMap99-GB4 RH Map1545.37UniSTS
Whitehead-RH Map1648.9UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11252.0UniSTS
RH17671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,005,032 - 153,005,170UniSTSGRCh37
Build 361151,271,656 - 151,271,794RGDNCBI36
Celera1126,075,810 - 126,075,948RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1124,368,124 - 124,368,262UniSTS
GeneMap99-GB4 RH Map1553.58UniSTS
NCBI RH Map11352.9UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High 2 29 236 1 4 106 15 32 88
Medium 117 11 18 39 7 6 1093 97 18 14 63 66 39 15 618 1
Low 1213 966 681 198 415 108 966 820 904 44 648 644 95 1 431 715 1
Below cutoff 842 1491 618 134 581 128 1421 980 1781 83 377 529 7 565 1012

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000307098   ⟹   ENSP00000306461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,031,203 - 153,032,900 (+)Ensembl
RefSeq Acc Id: NM_003125   ⟹   NP_003116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,031,203 - 153,032,900 (+)NCBI
GRCh371153,003,679 - 153,005,376 (+)ENTREZGENE
Build 361151,270,303 - 151,272,000 (+)NCBI Archive
HuRef1124,366,771 - 124,368,468 (+)ENTREZGENE
CHM1_11154,399,498 - 154,401,193 (+)NCBI
T2T-CHM13v2.01152,167,945 - 152,169,640 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_003116   ⟸   NM_003125
- UniProtKB: P22530 (UniProtKB/Swiss-Prot),   P22529 (UniProtKB/Swiss-Prot),   B2R5H7 (UniProtKB/Swiss-Prot),   Q5T524 (UniProtKB/Swiss-Prot),   P22528 (UniProtKB/Swiss-Prot),   B7ZLF8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000306461   ⟸   ENST00000307098

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22528-F1-model_v2 AlphaFold P22528 1-89 view protein structure

Promoters
RGD ID:6857162
Promoter ID:EPDNEW_H1746
Type:multiple initiation site
Name:SPRR1B_1
Description:small proline rich protein 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1744  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,031,203 - 153,031,263EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11260 AgrOrtholog
COSMIC SPRR1B COSMIC
Ensembl Genes ENSG00000169469 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000307098 ENTREZGENE
  ENST00000307098.5 UniProtKB/Swiss-Prot
GTEx ENSG00000169469 GTEx
HGNC ID HGNC:11260 ENTREZGENE
Human Proteome Map SPRR1B Human Proteome Map
KEGG Report hsa:6699 UniProtKB/Swiss-Prot
NCBI Gene 6699 ENTREZGENE
OMIM 182266 OMIM
Pfam Cornifin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36089 PharmGKB
PRINTS PRORICH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R5H7 ENTREZGENE
  B7ZLF8 ENTREZGENE, UniProtKB/TrEMBL
  P22528 ENTREZGENE
  P22529 ENTREZGENE
  P22530 ENTREZGENE
  Q5T524 ENTREZGENE
  SPR1B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R5H7 UniProtKB/Swiss-Prot
  P22529 UniProtKB/Swiss-Prot
  P22530 UniProtKB/Swiss-Prot
  Q5T524 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 SPRR1B  small proline rich protein 1B    small proline-rich protein 1B  Symbol and/or name change 5135510 APPROVED
2011-07-27 SPRR1B  small proline-rich protein 1B  SPRR1B  small proline-rich protein 1B (cornifin)  Symbol and/or name change 5135510 APPROVED