NUBP1 (NUBP iron-sulfur cluster assembly factor 1, cytosolic) - Rat Genome Database

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Gene: NUBP1 (NUBP iron-sulfur cluster assembly factor 1, cytosolic) Homo sapiens
Analyze
Symbol: NUBP1
Name: NUBP iron-sulfur cluster assembly factor 1, cytosolic
RGD ID: 1321458
HGNC Page HGNC:8041
Description: Enables iron-sulfur cluster binding activity. Involved in intracellular iron ion homeostasis; iron-sulfur cluster assembly; and regulation of cell growth. Located in cytosol and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CIAO5; cytosolic Fe-S cluster assembly factor NUBP1; MGC117406; MGC130052; MGC130053; NBP; NBP 1; NBP1; NBP35; nucleotide binding protein (e.coli MinD like); nucleotide binding protein 1; nucleotide binding protein 1 (E.coli MinD like); nucleotide binding protein 1 (MinD homolog, E. coli); nucleotide-binding protein 1
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
GRCh381610,743,842 - 10,769,351 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1610,743,786 - 10,769,351 (+)EnsemblGRCh38hg38GRCh38
GRCh371610,837,699 - 10,863,208 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361610,745,199 - 10,770,709 (+)NCBINCBI36Build 36hg18NCBI36
Build 341610,745,217 - 10,770,709NCBI
Celera1611,007,059 - 11,032,475 (+)NCBICelera
Cytogenetic Map16p13.13NCBI
HuRef1610,756,412 - 10,781,588 (+)NCBIHuRef
CHM1_11610,837,712 - 10,863,204 (+)NCBICHM1_1
T2T-CHM13v2.01610,779,762 - 10,805,269 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell projection  (IEA)
centriole  (IEA)
centrosome  (IEA)
cilium  (IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (IBA,IDA)
nucleus  (IEA)
plasma membrane  (IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
3. Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability. Paul VD and Lill R, Biochim Biophys Acta. 2015 Jun;1853(6):1528-39. doi: 10.1016/j.bbamcr.2014.12.018. Epub 2015 Jan 10.
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
Additional References at PubMed
PMID:7926816   PMID:8125298   PMID:10486206   PMID:10915798   PMID:12477932   PMID:15342556   PMID:18029348   PMID:18573874   PMID:18676680   PMID:19170196   PMID:19625176   PMID:21873635  
PMID:21900206   PMID:22863883   PMID:22939629   PMID:23376485   PMID:25648896   PMID:26186194   PMID:26344197   PMID:26972000   PMID:28514442   PMID:28515276   PMID:28718761   PMID:30033366  
PMID:31091453   PMID:32429669   PMID:33961781   PMID:34226595   PMID:34373451   PMID:35563538   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36629882   PMID:36652389  
PMID:36916754   PMID:37024974   PMID:37866880   PMID:38113892  


Genomics

Comparative Map Data
NUBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381610,743,842 - 10,769,351 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1610,743,786 - 10,769,351 (+)EnsemblGRCh38hg38GRCh38
GRCh371610,837,699 - 10,863,208 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361610,745,199 - 10,770,709 (+)NCBINCBI36Build 36hg18NCBI36
Build 341610,745,217 - 10,770,709NCBI
Celera1611,007,059 - 11,032,475 (+)NCBICelera
Cytogenetic Map16p13.13NCBI
HuRef1610,756,412 - 10,781,588 (+)NCBIHuRef
CHM1_11610,837,712 - 10,863,204 (+)NCBICHM1_1
T2T-CHM13v2.01610,779,762 - 10,805,269 (+)NCBIT2T-CHM13v2.0
Nubp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391610,229,802 - 10,242,317 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1610,229,812 - 10,242,292 (+)EnsemblGRCm39 Ensembl
GRCm381610,411,884 - 10,424,453 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1610,411,948 - 10,424,428 (+)EnsemblGRCm38mm10GRCm38
MGSCv371610,412,031 - 10,424,521 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361610,325,553 - 10,337,109 (+)NCBIMGSCv36mm8
Celera1611,045,448 - 11,057,938 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map165.61NCBI
Nubp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8105,766,157 - 5,777,648 (-)NCBIGRCr8
mRatBN7.2105,259,328 - 5,270,848 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx109,955,670 - 9,967,161 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0109,476,783 - 9,488,274 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0105,115,152 - 5,126,642 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0105,333,378 - 5,343,949 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl105,333,378 - 5,344,121 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0104,155,446 - 4,166,017 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4105,206,634 - 5,217,205 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1105,206,633 - 5,217,205 (-)NCBI
Celera104,276,872 - 4,287,443 (-)NCBICelera
Cytogenetic Map10q11NCBI
Nubp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554427,717,422 - 7,732,496 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554427,717,422 - 7,732,496 (-)NCBIChiLan1.0ChiLan1.0
NUBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21811,236,566 - 11,315,874 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11615,012,495 - 15,091,492 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0169,681,800 - 9,708,673 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11610,906,347 - 10,931,799 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1610,906,719 - 10,931,800 (+)Ensemblpanpan1.1panPan2
NUBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1631,900,540 - 31,922,087 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl631,896,596 - 31,921,989 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha633,282,660 - 33,304,486 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0632,082,705 - 32,104,573 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl632,081,940 - 32,104,479 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1631,896,734 - 31,918,569 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0631,770,561 - 31,792,362 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0632,194,799 - 32,216,643 (-)NCBIUU_Cfam_GSD_1.0
Nubp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344111,126,784 - 111,140,480 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365308,971,380 - 8,986,033 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365308,970,963 - 8,985,925 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl332,311,779 - 32,340,034 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1332,311,774 - 32,340,120 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2333,045,133 - 33,072,061 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NUBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1510,224,965 - 10,248,328 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl510,225,173 - 10,249,047 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606819,923,874 - 19,947,229 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nubp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248248,024,575 - 8,040,364 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248248,024,459 - 8,040,353 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NUBP1
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
NM_002484.3(NUBP1):c.748G>C (p.Gly250Arg) single nucleotide variant Malignant melanoma [RCV000070981] Chr16:10761787 [GRCh38]
Chr16:10855644 [GRCh37]
Chr16:10763145 [NCBI36]
Chr16:16p13.13
not provided
NM_002484.3(NUBP1):c.602C>T (p.Pro201Leu) single nucleotide variant Malignant melanoma [RCV000062961] Chr16:10758023 [GRCh38]
Chr16:10851880 [GRCh37]
Chr16:10759381 [NCBI36]
Chr16:16p13.13
not provided
NM_002484.4(NUBP1):c.691A>C (p.Ser231Arg) single nucleotide variant not specified [RCV004283088] Chr16:10761448 [GRCh38]
Chr16:10855305 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.13(chr16:10560475-10775716)x1 copy number loss See cases [RCV000141955] Chr16:10560475..10775716 [GRCh38]
Chr16:10654332..10869573 [GRCh37]
Chr16:10561833..10777074 [NCBI36]
Chr16:16p13.13
uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
NM_002484.4(NUBP1):c.591C>G (p.Ile197Met) single nucleotide variant not specified [RCV004311584] Chr16:10758012 [GRCh38]
Chr16:10851869 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3 copy number gain See cases [RCV000511571] Chr16:9631472..12128275 [GRCh37]
Chr16:16p13.2-13.13
uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p13.13(chr16:10519916-11249329)x3 copy number gain See cases [RCV000511543] Chr16:10519916..11249329 [GRCh37]
Chr16:16p13.13
likely benign|uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_002484.4(NUBP1):c.107G>C (p.Gly36Ala) single nucleotide variant not specified [RCV004321821] Chr16:10744048 [GRCh38]
Chr16:10837905 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.2-13.13(chr16:9321032-10971457)x3 copy number gain See cases [RCV000512306] Chr16:9321032..10971457 [GRCh37]
Chr16:16p13.2-13.13
uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3 copy number gain not provided [RCV000683759] Chr16:10529891..11889585 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.13(chr16:10563055-10958954)x1 copy number loss not provided [RCV000849090] Chr16:10563055..10958954 [GRCh37]
Chr16:16p13.13
pathogenic
GRCh37/hg19 16p13.2-13.13(chr16:10196800-11037738)x1 copy number loss not provided [RCV000845661] Chr16:10196800..11037738 [GRCh37]
Chr16:16p13.2-13.13
pathogenic
NM_002484.4(NUBP1):c.914A>G (p.Glu305Gly) single nucleotide variant not specified [RCV004303510] Chr16:10769056 [GRCh38]
Chr16:10862913 [GRCh37]
Chr16:16p13.13
uncertain significance
NC_000016.9:g.(?_8829597)_(11683693_?)dup duplication Landau-Kleffner syndrome [RCV003105356] Chr16:8829597..11683693 [GRCh37]
Chr16:16p13.2-13.13
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic|likely pathogenic
NC_000016.9:g.(?_8829597)_(11650586_?)dup duplication Charcot-Marie-Tooth disease type 1C [RCV003120793]|MHC class II deficiency [RCV002000309] Chr16:8829597..11650586 [GRCh37]
Chr16:16p13.2-13.13
uncertain significance
NC_000016.9:g.(?_10637407)_(10971259_?)del deletion MHC class II deficiency [RCV003122222] Chr16:10637407..10971259 [GRCh37]
Chr16:16p13.13
pathogenic
NM_002484.4(NUBP1):c.80A>G (p.Asn27Ser) single nucleotide variant not specified [RCV004297234] Chr16:10744021 [GRCh38]
Chr16:10837878 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3 copy number gain not provided [RCV002474875] Chr16:10423631..12176517 [GRCh37]
Chr16:16p13.2-13.13
uncertain significance
NM_002484.4(NUBP1):c.287G>A (p.Gly96Glu) single nucleotide variant not specified [RCV004239274] Chr16:10752638 [GRCh38]
Chr16:10846495 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.490G>A (p.Glu164Lys) single nucleotide variant not specified [RCV004237589] Chr16:10757911 [GRCh38]
Chr16:10851768 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.754G>A (p.Ala252Thr) single nucleotide variant not specified [RCV004228847] Chr16:10761793 [GRCh38]
Chr16:10855650 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.230A>G (p.His77Arg) single nucleotide variant not specified [RCV004216140] Chr16:10747248 [GRCh38]
Chr16:10841105 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.854T>G (p.Ile285Ser) single nucleotide variant not specified [RCV004187126] Chr16:10767982 [GRCh38]
Chr16:10861839 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.446A>G (p.Lys149Arg) single nucleotide variant not specified [RCV004151788] Chr16:10756775 [GRCh38]
Chr16:10850632 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.809A>G (p.Asp270Gly) single nucleotide variant not specified [RCV004161323] Chr16:10761848 [GRCh38]
Chr16:10855705 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.752G>A (p.Gly251Asp) single nucleotide variant not specified [RCV004157796] Chr16:10761791 [GRCh38]
Chr16:10855648 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.854T>C (p.Ile285Thr) single nucleotide variant not specified [RCV004164833] Chr16:10767982 [GRCh38]
Chr16:10861839 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.690G>C (p.Met230Ile) single nucleotide variant not specified [RCV004135575] Chr16:10761447 [GRCh38]
Chr16:10855304 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.311G>A (p.Gly104Glu) single nucleotide variant not specified [RCV004125790] Chr16:10752662 [GRCh38]
Chr16:10846519 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.733T>A (p.Phe245Ile) single nucleotide variant not specified [RCV004323323] Chr16:10761772 [GRCh38]
Chr16:10855629 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.296T>G (p.Ile99Ser) single nucleotide variant not specified [RCV004353279] Chr16:10752647 [GRCh38]
Chr16:10846504 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.10G>T (p.Val4Leu) single nucleotide variant not specified [RCV004355321] Chr16:10743873 [GRCh38]
Chr16:10837730 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.781G>A (p.Val261Ile) single nucleotide variant not specified [RCV004359778] Chr16:10761820 [GRCh38]
Chr16:10855677 [GRCh37]
Chr16:16p13.13
likely benign
NM_002484.4(NUBP1):c.164A>G (p.His55Arg) single nucleotide variant not specified [RCV004365394] Chr16:10747182 [GRCh38]
Chr16:10841039 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.13(chr16:10671445-10864286)x1 copy number loss not provided [RCV003483270] Chr16:10671445..10864286 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.753C>T (p.Gly251=) single nucleotide variant not provided [RCV003411266] Chr16:10761792 [GRCh38]
Chr16:10855649 [GRCh37]
Chr16:16p13.13
likely benign
NM_002484.4(NUBP1):c.303G>A (p.Lys101=) single nucleotide variant not provided [RCV003417643] Chr16:10752654 [GRCh38]
Chr16:10846511 [GRCh37]
Chr16:16p13.13
likely benign
NM_002484.4(NUBP1):c.274A>G (p.Ile92Val) single nucleotide variant not specified [RCV004496090] Chr16:10752625 [GRCh38]
Chr16:10846482 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.213C>A (p.Phe71Leu) single nucleotide variant not specified [RCV004496089] Chr16:10747231 [GRCh38]
Chr16:10841088 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.38G>C (p.Ser13Thr) single nucleotide variant not specified [RCV004496091] Chr16:10743979 [GRCh38]
Chr16:10837836 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.772G>C (p.Asp258His) single nucleotide variant not specified [RCV004496096] Chr16:10761811 [GRCh38]
Chr16:10855668 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.94G>C (p.Ala32Pro) single nucleotide variant not specified [RCV004496097] Chr16:10744035 [GRCh38]
Chr16:10837892 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.575T>C (p.Ile192Thr) single nucleotide variant not specified [RCV004496094] Chr16:10757996 [GRCh38]
Chr16:10851853 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.436G>A (p.Gly146Arg) single nucleotide variant not specified [RCV004496092] Chr16:10756765 [GRCh38]
Chr16:10850622 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.545C>T (p.Ser182Leu) single nucleotide variant not specified [RCV004496093] Chr16:10757966 [GRCh38]
Chr16:10851823 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.154A>C (p.Thr52Pro) single nucleotide variant not specified [RCV004496088] Chr16:10747172 [GRCh38]
Chr16:10841029 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.907A>T (p.Ile303Phe) single nucleotide variant not specified [RCV004652601] Chr16:10769049 [GRCh38]
Chr16:10862906 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.883G>C (p.Ala295Pro) single nucleotide variant not specified [RCV004638815] Chr16:10768011 [GRCh38]
Chr16:10861868 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.338G>A (p.Ser113Asn) single nucleotide variant not specified [RCV004652602] Chr16:10755731 [GRCh38]
Chr16:10849588 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_002484.4(NUBP1):c.56G>T (p.Gly19Val) single nucleotide variant not specified [RCV004652603] Chr16:10743997 [GRCh38]
Chr16:10837854 [GRCh37]
Chr16:16p13.13
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1609
Count of miRNA genes:673
Interacting mature miRNAs:786
Transcripts:ENST00000283027, ENST00000433392, ENST00000571175, ENST00000571790, ENST00000573663, ENST00000574137, ENST00000574334, ENST00000574691
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407416264GWAS1065240_Haspartate aminotransferase measurement QTL GWAS1065240 (human)3e-11aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)161076225410762255Human
407049732GWAS698708_Hphosphoglyceric acid measurement QTL GWAS698708 (human)0.000003phosphoglyceric acid measurement161076805710768058Human

Markers in Region
RH103742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,843,427 - 10,843,577UniSTSGRCh37
Build 361610,750,928 - 10,751,078RGDNCBI36
Celera1611,012,800 - 11,012,950RGD
Cytogenetic Map16p13.13UniSTS
HuRef1610,762,196 - 10,762,346UniSTS
GeneMap99-GB4 RH Map1699.54UniSTS
D16S2962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,862,966 - 10,863,199UniSTSGRCh37
Build 361610,770,467 - 10,770,700RGDNCBI36
Celera1611,032,233 - 11,032,466RGD
Cytogenetic Map16p13.13UniSTS
HuRef1610,781,346 - 10,781,579UniSTS
TNG Radiation Hybrid Map165289.0UniSTS
Stanford-G3 RH Map16524.0UniSTS
GeneMap99-GB4 RH Map1698.92UniSTS
Whitehead-RH Map1657.2UniSTS
Whitehead-YAC Contig Map16 UniSTS
NCBI RH Map16120.8UniSTS
GeneMap99-G3 RH Map16484.0UniSTS
240WE5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371610,842,893 - 10,843,091UniSTSGRCh37
Build 361610,750,394 - 10,750,592RGDNCBI36
Celera1611,012,254 - 11,012,464RGD
Cytogenetic Map16p13.13UniSTS
HuRef1610,761,662 - 10,761,860UniSTS
Whitehead-YAC Contig Map16 UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC074136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP216107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP225034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U01833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000283027   ⟹   ENSP00000283027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,743,842 - 10,769,351 (+)Ensembl
Ensembl Acc Id: ENST00000433392   ⟹   ENSP00000409654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,743,855 - 10,769,351 (+)Ensembl
Ensembl Acc Id: ENST00000571175   ⟹   ENSP00000460288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,757,873 - 10,769,351 (+)Ensembl
Ensembl Acc Id: ENST00000571790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,743,841 - 10,763,834 (+)Ensembl
Ensembl Acc Id: ENST00000573663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,765,024 - 10,769,313 (+)Ensembl
Ensembl Acc Id: ENST00000574137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,743,844 - 10,762,112 (+)Ensembl
Ensembl Acc Id: ENST00000574334   ⟹   ENSP00000461746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,743,786 - 10,757,994 (+)Ensembl
Ensembl Acc Id: ENST00000574691   ⟹   ENSP00000461723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1610,758,011 - 10,769,351 (+)Ensembl
RefSeq Acc Id: NM_001278506   ⟹   NP_001265435
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,743,842 - 10,769,351 (+)NCBI
GRCh371610,837,643 - 10,863,208 (+)NCBI
HuRef1610,756,412 - 10,781,588 (+)NCBI
CHM1_11610,837,712 - 10,863,204 (+)NCBI
T2T-CHM13v2.01610,779,762 - 10,805,269 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323594   ⟹   NP_001310523
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,743,842 - 10,769,351 (+)NCBI
CHM1_11610,837,782 - 10,863,204 (+)NCBI
T2T-CHM13v2.01610,779,762 - 10,805,269 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323595   ⟹   NP_001310524
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,743,842 - 10,769,351 (+)NCBI
CHM1_11610,837,786 - 10,863,204 (+)NCBI
T2T-CHM13v2.01610,779,762 - 10,805,269 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323596   ⟹   NP_001310525
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,743,842 - 10,769,351 (+)NCBI
CHM1_11610,837,761 - 10,863,204 (+)NCBI
T2T-CHM13v2.01610,779,762 - 10,805,269 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323597   ⟹   NP_001310526
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,743,869 - 10,769,349 (+)NCBI
CHM1_11610,837,795 - 10,863,202 (+)NCBI
T2T-CHM13v2.01610,779,789 - 10,805,267 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002484   ⟹   NP_002475
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,743,842 - 10,769,351 (+)NCBI
GRCh371610,837,643 - 10,863,208 (+)NCBI
Build 361610,745,199 - 10,770,709 (+)NCBI Archive
Celera1611,007,059 - 11,032,475 (+)RGD
HuRef1610,756,412 - 10,781,588 (+)NCBI
CHM1_11610,837,712 - 10,863,204 (+)NCBI
T2T-CHM13v2.01610,779,762 - 10,805,269 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434170   ⟹   XP_047290126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381610,743,842 - 10,769,351 (+)NCBI
RefSeq Acc Id: XM_054380401   ⟹   XP_054236376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01610,779,762 - 10,805,269 (+)NCBI
RefSeq Acc Id: NP_002475   ⟸   NM_002484
- Peptide Label: isoform 1
- UniProtKB: Q498A9 (UniProtKB/Swiss-Prot),   Q32M30 (UniProtKB/Swiss-Prot),   Q53FS7 (UniProtKB/Swiss-Prot),   P53384 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265435   ⟸   NM_001278506
- Peptide Label: isoform 2
- UniProtKB: P53384 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310525   ⟸   NM_001323596
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001310523   ⟸   NM_001323594
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001310524   ⟸   NM_001323595
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001310526   ⟸   NM_001323597
- Peptide Label: isoform 6
- Sequence:
Ensembl Acc Id: ENSP00000460288   ⟸   ENST00000571175
Ensembl Acc Id: ENSP00000283027   ⟸   ENST00000283027
Ensembl Acc Id: ENSP00000461746   ⟸   ENST00000574334
Ensembl Acc Id: ENSP00000461723   ⟸   ENST00000574691
Ensembl Acc Id: ENSP00000409654   ⟸   ENST00000433392
RefSeq Acc Id: XP_047290126   ⟸   XM_047434170
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236376   ⟸   XM_054380401
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P53384-F1-model_v2 AlphaFold P53384 1-320 view protein structure

Promoters
RGD ID:7231313
Promoter ID:EPDNEW_H21402
Type:initiation region
Name:NUBP1_1
Description:nucleotide 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
GRCh381610,743,842 - 10,743,902EPDNEW
RGD ID:6793343
Promoter ID:HG_KWN:23015
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000251964,   UC002DAB.1,   UC010BUM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361610,744,999 - 10,745,499 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8041 AgrOrtholog
COSMIC NUBP1 COSMIC
Ensembl Genes ENSG00000103274 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000283027 ENTREZGENE
  ENST00000283027.10 UniProtKB/Swiss-Prot
  ENST00000433392 ENTREZGENE
  ENST00000433392.6 UniProtKB/Swiss-Prot
  ENST00000571175.5 UniProtKB/TrEMBL
  ENST00000574334.5 UniProtKB/TrEMBL
  ENST00000574691.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103274 GTEx
HGNC ID HGNC:8041 ENTREZGENE
Human Proteome Map NUBP1 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  Mrp/NBP35_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mrp_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUBP1/Nbp35 UniProtKB/Swiss-Prot
  NUBP2/Cfd1_eukaryotes UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YlxH/NBP35 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4682 UniProtKB/Swiss-Prot
NCBI Gene 4682 ENTREZGENE
OMIM 600280 OMIM
PANTHER CYTOSOLIC FE-S CLUSTER ASSEMBLY FACTOR NUBP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOSOLIC FE-S CLUSTER ASSEMBLY FACTOR NUBP2 UniProtKB/TrEMBL
  PTHR23264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ParA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31823 PharmGKB
PROSITE MRP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt I3L3A0_HUMAN UniProtKB/TrEMBL
  I3L518_HUMAN UniProtKB/TrEMBL
  I3L531_HUMAN UniProtKB/TrEMBL
  NUBP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2YS46_HUMAN UniProtKB/TrEMBL
  Q32M30 ENTREZGENE
  Q498A9 ENTREZGENE
  Q53FS7 ENTREZGENE
UniProt Secondary Q32M30 UniProtKB/Swiss-Prot
  Q498A9 UniProtKB/Swiss-Prot
  Q53FS7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-12-20 NUBP1  NUBP iron-sulfur cluster assembly factor 1, cytosolic  NUBP1  nucleotide binding protein 1  Symbol and/or name change 19259463 PROVISIONAL
2011-07-27 NUBP1  nucleotide binding protein 1  NUBP1  nucleotide binding protein 1 (MinD homolog, E. coli)  Symbol and/or name change 5135510 APPROVED