CALB1 (calbindin 1) - Rat Genome Database

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Gene: CALB1 (calbindin 1) Homo sapiens
Analyze
Symbol: CALB1
Name: calbindin 1
RGD ID: 732083
HGNC Page HGNC:1434
Description: Enables calcium ion binding activity and zinc ion binding activity. Involved in long-term memory and short-term memory. Located in several cellular components, including axon; dendrite; and neuronal cell body. Biomarker of gestational diabetes and pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CALB; calbindin; calbindin 1, (28kD); calbindin 1, 28kDa; calbindin 27; calbindin D28; calbindin-D28k; D-28K; RTVL-H protein; vitamin D-dependent calcium-binding protein, avian-type
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh38890,058,608 - 90,082,879 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl890,058,608 - 90,095,475 (-)EnsemblGRCh38hg38GRCh38
GRCh37891,070,836 - 91,095,107 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36891,140,014 - 91,164,283 (-)NCBINCBI36Build 36hg18NCBI36
Build 34891,140,013 - 91,164,283NCBI
Celera887,265,760 - 87,290,030 (-)NCBICelera
Cytogenetic Map8q21.3ENTREZGENE
HuRef886,281,630 - 86,305,899 (-)NCBIHuRef
CHM1_1891,111,762 - 91,136,036 (-)NCBICHM1_1
T2T-CHM13v2.0891,182,279 - 91,206,531 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
adefovir  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (ISO)
arsenite(3-)  (ISO)
bacitracin  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (ISO)
Brodifacoum  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
cadmium sulfate  (EXP)
calcitriol  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
captopril  (ISO)
cefaloridine  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP,ISO)
copper(II) chloride  (ISO)
copper(II) sulfate  (EXP)
cycloheximide  (EXP)
cyclosporin A  (ISO)
cytarabine  (ISO)
DDE  (EXP)
dexamethasone  (ISO)
diethanolamine  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
furosemide  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
ivermectin  (EXP)
kainic acid  (ISO)
ketoconazole  (ISO)
lead diacetate  (ISO)
Mecamylamine  (ISO)
menadione  (ISO)
mercury dibromide  (EXP)
methimazole  (ISO)
morphine  (ISO)
nicotine  (ISO)
ochratoxin A  (ISO)
ouabain  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
picrotoxin  (ISO)
progesterone  (ISO)
quercetin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
tacrolimus hydrate  (ISO)
testosterone  (ISO)
thalidomide  (EXP)
thallium  (ISO)
thallium sulfate  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vandetanib  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Tracking the expression of excitatory and inhibitory neurotransmission-related proteins and neuroplasticity markers after noise induced hearing loss. Browne CJ, etal., PLoS One. 2012;7(3):e33272. doi: 10.1371/journal.pone.0033272. Epub 2012 Mar 12.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Cytosolic Ca2+ buffers. Schwaller B, Cold Spring Harb Perspect Biol. 2010 Nov;2(11):a004051. doi: 10.1101/cshperspect.a004051. Epub 2010 Oct 13.
7. Immunohistochemical localization of calcium-binding proteins in the brainstem vestibular nuclei of the jaundiced Gunn rat. Shaia WT, etal., Hear Res 2002 Nov;173(1-2):82-90.
8. Alcohol-induced cognitive deficits are associated with decreased circulating levels of the neurotrophin BDNF in humans and rats. Silva-Peña D, etal., Addict Biol. 2019 Sep;24(5):1019-1033. doi: 10.1111/adb.12668. Epub 2018 Sep 12.
9. Changes in calcium-binding protein expression in the auditory brainstem nuclei of the jaundiced Gunn rat. Spencer RF, etal., Hear Res 2002 Sep;171(1-2):129-141.
10. Disrupted placental vitamin D metabolism and calcium signaling in gestational diabetes and pre-eclampsia patients. Varshney S, etal., Endocrine. 2023 Apr;80(1):191-200. doi: 10.1007/s12020-022-03272-9. Epub 2022 Dec 8.
Additional References at PubMed
PMID:1537319   PMID:1713126   PMID:1906795   PMID:2191560   PMID:2565876   PMID:2897519   PMID:3691519   PMID:7943215   PMID:8739042   PMID:9373717   PMID:10841767   PMID:11994015  
PMID:12176979   PMID:12477932   PMID:12520521   PMID:12606474   PMID:12684061   PMID:14702039   PMID:15489334   PMID:15641794   PMID:15741335   PMID:16421571   PMID:16763551   PMID:16928804  
PMID:17156698   PMID:17257825   PMID:17442486   PMID:18259068   PMID:18359862   PMID:18568448   PMID:18587625   PMID:19056867   PMID:19674066   PMID:20054781   PMID:20098747   PMID:20214988  
PMID:20452033   PMID:21364983   PMID:21565611   PMID:21873635   PMID:22272358   PMID:22483853   PMID:22796338   PMID:23376485   PMID:23715974   PMID:24719368   PMID:26081613   PMID:26417681  
PMID:27307499   PMID:27611799   PMID:28957512   PMID:30289411   PMID:30545133   PMID:30638403   PMID:31059057   PMID:31262060   PMID:32236567   PMID:32814053   PMID:33924468   PMID:33961781  
PMID:35063084   PMID:36012633   PMID:36215168   PMID:37192000  


Genomics

Comparative Map Data
CALB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38890,058,608 - 90,082,879 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl890,058,608 - 90,095,475 (-)EnsemblGRCh38hg38GRCh38
GRCh37891,070,836 - 91,095,107 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36891,140,014 - 91,164,283 (-)NCBINCBI36Build 36hg18NCBI36
Build 34891,140,013 - 91,164,283NCBI
Celera887,265,760 - 87,290,030 (-)NCBICelera
Cytogenetic Map8q21.3ENTREZGENE
HuRef886,281,630 - 86,305,899 (-)NCBIHuRef
CHM1_1891,111,762 - 91,136,036 (-)NCBICHM1_1
T2T-CHM13v2.0891,182,279 - 91,206,531 (-)NCBIT2T-CHM13v2.0
Calb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39415,881,264 - 15,906,709 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl415,881,264 - 15,908,064 (+)EnsemblGRCm39 Ensembl
GRCm38415,881,264 - 15,906,709 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl415,881,264 - 15,908,064 (+)EnsemblGRCm38mm10GRCm38
MGSCv37415,808,411 - 15,833,856 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36415,808,411 - 15,833,795 (+)NCBIMGSCv36mm8
Celera415,684,341 - 15,710,097 (+)NCBICelera
Cytogenetic Map4A2NCBI
cM Map46.66NCBI
Calb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8534,172,612 - 34,199,555 (+)NCBIGRCr8
mRatBN7.2529,375,624 - 29,402,532 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl529,375,642 - 29,402,431 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx531,531,877 - 31,556,210 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0533,124,545 - 33,148,878 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0533,084,720 - 33,109,051 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0529,538,380 - 29,562,774 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl529,538,380 - 29,562,773 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0534,217,930 - 34,242,324 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4530,455,665 - 30,480,122 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1530,455,683 - 30,480,116 (+)NCBI
Celera528,581,243 - 28,605,619 (+)NCBICelera
Cytogenetic Map5q13NCBI
Calb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554176,942,900 - 6,969,502 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554176,944,300 - 6,969,341 (-)NCBIChiLan1.0ChiLan1.0
CALB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27107,454,698 - 107,478,231 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1882,994,347 - 83,017,871 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0886,747,702 - 86,771,995 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1888,699,532 - 88,723,814 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl888,699,532 - 88,723,814 (-)Ensemblpanpan1.1panPan2
CALB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12935,551,836 - 35,572,985 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2935,552,436 - 35,572,925 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2935,704,729 - 35,725,872 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02935,749,189 - 35,770,350 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2935,748,436 - 35,770,338 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12935,736,414 - 35,757,553 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02935,754,732 - 35,775,854 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02936,190,515 - 36,211,601 (-)NCBIUU_Cfam_GSD_1.0
Calb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530343,910,718 - 43,934,361 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365443,858,344 - 3,882,106 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365443,858,344 - 3,881,985 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CALB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl446,701,045 - 46,725,197 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1446,701,276 - 46,723,548 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2451,177,484 - 51,199,916 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CALB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1885,135,956 - 85,160,806 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl885,137,528 - 85,160,855 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603955,715,695 - 55,740,540 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Calb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247441,929,988 - 1,963,464 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247441,930,085 - 1,960,950 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CALB1
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|See cases [RCV000053676] Chr8:85835757..93610142 [GRCh38]
Chr8:86847986..94622370 [GRCh37]
Chr8:86917086..94691546 [NCBI36]
Chr8:8q21.2-22.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3		 pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1		 pathogenic
NM_004929.3(CALB1):c.547G>A (p.Gly183Arg) single nucleotide variant Malignant melanoma [RCV000068442] Chr8:90063153 [GRCh38]
Chr8:91075381 [GRCh37]
Chr8:91144557 [NCBI36]
Chr8:8q21.3		 not provided
NM_004929.3(CALB1):c.264C>T (p.Phe88=) single nucleotide variant Malignant melanoma [RCV000068443] Chr8:90069205 [GRCh38]
Chr8:91081433 [GRCh37]
Chr8:91150609 [NCBI36]
Chr8:8q21.3		 not provided
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3(chr8:91080027-92129950)x3 copy number gain See cases [RCV000510205] Chr8:91080027..92129950 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_004929.4(CALB1):c.258G>T (p.Glu86Asp) single nucleotide variant not specified [RCV004301783] Chr8:90069211 [GRCh38]
Chr8:91081439 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3(chr8:90737258-91091402)x3 copy number gain not provided [RCV000747708] Chr8:90737258..91091402 [GRCh37]
Chr8:8q21.3		 benign
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274) copy number loss not provided [RCV003236711] Chr8:89179899..97978274 [GRCh37]
Chr8:8q21.3-22.1		 pathogenic
NM_004929.4(CALB1):c.603C>T (p.Asp201=) single nucleotide variant not provided [RCV000914964] Chr8:90060698 [GRCh38]
Chr8:91072926 [GRCh37]
Chr8:8q21.3		 benign
NM_004929.4(CALB1):c.348C>T (p.Gly116=) single nucleotide variant not provided [RCV000912146] Chr8:90069022 [GRCh38]
Chr8:91081250 [GRCh37]
Chr8:8q21.3		 likely benign
GRCh37/hg19 8q21.3(chr8:90758337-91556317)x3 copy number gain See cases [RCV001007451] Chr8:90758337..91556317 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q21.3(chr8:88194550-91779543)x3 copy number gain not provided [RCV001259018] Chr8:88194550..91779543 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1 copy number loss not provided [RCV002472864] Chr8:87010235..91879538 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_004929.4(CALB1):c.667A>G (p.Lys223Glu) single nucleotide variant not specified [RCV004277258] Chr8:90060634 [GRCh38]
Chr8:91072862 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_004929.4(CALB1):c.557T>C (p.Met186Thr) single nucleotide variant not specified [RCV004324338] Chr8:90063143 [GRCh38]
Chr8:91075371 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3		 pathogenic
GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1 copy number loss not provided [RCV003483033] Chr8:86955187..94955826 [GRCh37]
Chr8:8q21.3-22.1		 uncertain significance
GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1 copy number loss not provided [RCV003483032] Chr8:84127576..98263585 [GRCh37]
Chr8:8q21.13-22.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_004929.4(CALB1):c.449T>C (p.Met150Thr) single nucleotide variant not specified [RCV004434480] Chr8:90065899 [GRCh38]
Chr8:91078127 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_004929.4(CALB1):c.113A>G (p.Asn38Ser) single nucleotide variant not specified [RCV004892609] Chr8:90082069 [GRCh38]
Chr8:91094297 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_004929.4(CALB1):c.749C>T (p.Thr250Met) single nucleotide variant not specified [RCV004895382] Chr8:90060210 [GRCh38]
Chr8:91072438 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_004929.4(CALB1):c.137C>A (p.Ala46Glu) single nucleotide variant not specified [RCV004895383] Chr8:90082045 [GRCh38]
Chr8:91094273 [GRCh37]
Chr8:8q21.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1745
Count of miRNA genes:824
Interacting mature miRNAs:938
Transcripts:ENST00000265431, ENST00000469032, ENST00000473670, ENST00000476853, ENST00000482702, ENST00000497376, ENST00000514406, ENST00000518457, ENST00000520613, ENST00000522070, ENST00000523716
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597208489GWAS1304563_Hprotein measurement QTL GWAS1304563 (human)5e-11protein measurement89008185890081859Human
597096851GWAS1192925_Hprotein measurement QTL GWAS1192925 (human)1e-09protein measurement89008185890081859Human

Markers in Region
D8S1947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,070,979 - 91,071,091UniSTSGRCh37
Build 36891,140,155 - 91,140,267RGDNCBI36
Celera887,265,901 - 87,266,013RGD
Cytogenetic Map8q21.3UniSTS
HuRef886,281,771 - 86,281,883UniSTS
GeneMap99-GB4 RH Map8425.55UniSTS
Whitehead-RH Map8522.9UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map8899.7UniSTS
SHGC-30996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,094,276 - 91,094,400UniSTSGRCh37
Build 36891,163,452 - 91,163,576RGDNCBI36
Celera887,289,199 - 87,289,323RGD
Cytogenetic Map8q21.3UniSTS
HuRef886,305,068 - 86,305,192UniSTS
TNG Radiation Hybrid Map844830.0UniSTS
GeneMap99-GB4 RH Map8425.6UniSTS
Whitehead-RH Map8534.3UniSTS
GeneMap99-G3 RH Map83375.0UniSTS
WI-16365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,070,878 - 91,071,003UniSTSGRCh37
Build 36891,140,054 - 91,140,179RGDNCBI36
Celera887,265,800 - 87,265,925RGD
Cytogenetic Map8q21.3UniSTS
HuRef886,281,670 - 86,281,795UniSTS
GeneMap99-GB4 RH Map8425.45UniSTS
Whitehead-RH Map8534.3UniSTS
NCBI RH Map8899.7UniSTS
SGC30430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,071,644 - 91,071,749UniSTSGRCh37
Build 36891,140,820 - 91,140,925RGDNCBI36
Celera887,266,566 - 87,266,671RGD
Cytogenetic Map8q21.3UniSTS
HuRef886,282,436 - 86,282,541UniSTS
GeneMap99-GB4 RH Map8425.55UniSTS
Whitehead-RH Map8534.3UniSTS
NCBI RH Map8899.7UniSTS
CALB1_4495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,071,429 - 91,072,342UniSTSGRCh37
Build 36891,140,605 - 91,141,518RGDNCBI36
Celera887,266,351 - 87,267,264RGD
HuRef886,282,221 - 86,283,134UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1146 2367 2680 2099 4860 1585 2122 2 521 1433 369 2154 6406 5709 36 3718 791 1673 1502 167 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001366795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC123779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY128922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S46006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265431   ⟹   ENSP00000265431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,058,608 - 90,082,879 (-)Ensembl
Ensembl Acc Id: ENST00000469032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,058,608 - 90,064,468 (-)Ensembl
Ensembl Acc Id: ENST00000473670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,078,311 - 90,082,583 (-)Ensembl
Ensembl Acc Id: ENST00000476853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,069,169 - 90,082,415 (-)Ensembl
Ensembl Acc Id: ENST00000482702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,069,004 - 90,082,871 (-)Ensembl
Ensembl Acc Id: ENST00000497376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,060,170 - 90,061,312 (-)Ensembl
Ensembl Acc Id: ENST00000514406   ⟹   ENSP00000430192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,078,424 - 90,095,470 (-)Ensembl
Ensembl Acc Id: ENST00000518457   ⟹   ENSP00000429602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,059,419 - 90,081,521 (-)Ensembl
Ensembl Acc Id: ENST00000520613   ⟹   ENSP00000430281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,063,435 - 90,095,351 (-)Ensembl
Ensembl Acc Id: ENST00000522070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,062,628 - 90,063,430 (-)Ensembl
Ensembl Acc Id: ENST00000523716   ⟹   ENSP00000429246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl890,063,299 - 90,095,475 (-)Ensembl
RefSeq Acc Id: NM_001366795   ⟹   NP_001353724
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38890,058,608 - 90,082,879 (-)NCBI
T2T-CHM13v2.0891,182,279 - 91,206,531 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004929   ⟹   NP_004920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38890,058,608 - 90,082,879 (-)NCBI
GRCh37891,070,836 - 91,095,107 (-)NCBI
Build 36891,140,014 - 91,164,283 (-)NCBI Archive
HuRef886,281,630 - 86,305,899 (-)ENTREZGENE
CHM1_1891,111,760 - 91,136,038 (-)NCBI
T2T-CHM13v2.0891,182,279 - 91,206,531 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004920   ⟸   NM_004929
- Peptide Label: isoform 1
- UniProtKB: B2R696 (UniProtKB/Swiss-Prot),   B7Z9J4 (UniProtKB/Swiss-Prot),   P05937 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001353724   ⟸   NM_001366795
- Peptide Label: isoform 2
Ensembl Acc Id: ENSP00000429602   ⟸   ENST00000518457
Ensembl Acc Id: ENSP00000430281   ⟸   ENST00000520613
Ensembl Acc Id: ENSP00000429246   ⟸   ENST00000523716
Ensembl Acc Id: ENSP00000430192   ⟸   ENST00000514406
Ensembl Acc Id: ENSP00000265431   ⟸   ENST00000265431
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P05937-F1-model_v2 AlphaFold P05937 1-261 view protein structure

Promoters
RGD ID:7213725
Promoter ID:EPDNEW_H12609
Type:multiple initiation site
Name:CALB1_1
Description:calbindin 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
GRCh38890,082,879 - 90,082,939EPDNEW
RGD ID:6806553
Promoter ID:HG_KWN:61668
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000259338,   OTTHUMT00000259340,   OTTHUMT00000259341,   OTTHUMT00000259342
Position:
Human AssemblyChrPosition (strand)Source
Build 36891,163,956 - 91,164,456 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1434 AgrOrtholog
COSMIC CALB1 COSMIC
Ensembl Genes ENSG00000104327 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265431 ENTREZGENE
  ENST00000265431.7 UniProtKB/Swiss-Prot
  ENST00000518457.5 UniProtKB/Swiss-Prot
  ENST00000520613.5 UniProtKB/TrEMBL
  ENST00000523716.5 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104327 GTEx
HGNC ID HGNC:1434 ENTREZGENE
Human Proteome Map CALB1 Human Proteome Map
InterPro Calbindin UniProtKB/Swiss-Prot
  Calbindin_Ca-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:793 UniProtKB/Swiss-Prot
NCBI Gene 793 ENTREZGENE
OMIM 114050 OMIM
PANTHER CALBINDIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19972:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_1 UniProtKB/Swiss-Prot
  EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  efhand UniProtKB/TrEMBL
PharmGKB PA26026 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R696 ENTREZGENE
  B7Z9J4 ENTREZGENE
  CALB1_HUMAN UniProtKB/Swiss-Prot
  E5RG14_HUMAN UniProtKB/TrEMBL
  E5RIZ8_HUMAN UniProtKB/TrEMBL
  O75552_HUMAN UniProtKB/TrEMBL
  P05937 ENTREZGENE
UniProt Secondary B2R696 UniProtKB/Swiss-Prot
  B7Z9J4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 CALB1  calbindin 1  CALB1  calbindin 1, 28kDa  Symbol and/or name change 5135510 APPROVED