NDUFAB1 (NADH:ubiquinone oxidoreductase subunit AB1) - Rat Genome Database

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Gene: NDUFAB1 (NADH:ubiquinone oxidoreductase subunit AB1) Homo sapiens
Analyze
Symbol: NDUFAB1
Name: NADH:ubiquinone oxidoreductase subunit AB1
RGD ID: 1313754
HGNC Page HGNC:7694
Description: Enables mitochondrial large ribosomal subunit binding activity. Involved in [2Fe-2S] cluster assembly; mitochondrial respiratory chain complex I assembly; and protein lipoylation. Located in mitochondrion and nucleoplasm. Part of mitochondrial [2Fe-2S] assembly complex; mitochondrial inner membrane; and respiratory chain complex I.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ACP; ACP1; acyl carrier protein, mitochondrial; CI-SDAP; complex I SDAP subunit; FASN2A; MGC65095; mitochondrial acyl carrier protein; NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa; NADH-ubiquinone oxidoreductase 9.6 kDa subunit; NADH:ubiquinone oxidoreductase SDAP subunit; SDAP
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NDUFAB1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381623,581,014 - 23,596,316 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1623,581,014 - 23,596,316 (-)EnsemblGRCh38hg38GRCh38
GRCh371623,592,335 - 23,607,637 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361623,499,836 - 23,515,140 (-)NCBINCBI36Build 36hg18NCBI36
Build 341623,499,837 - 23,515,140NCBI
Celera1622,370,508 - 22,385,819 (-)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1621,682,894 - 21,697,748 (-)NCBIHuRef
CHM1_11624,603,886 - 24,619,351 (-)NCBICHM1_1
T2T-CHM13v2.01623,856,813 - 23,872,135 (-)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)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP,ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aconitine  (ISO)
aflatoxin B1  (ISO)
amitrole  (ISO)
ampicillin  (ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP,ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
fenofibrate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
hydrogen sulfide  (ISO)
isoniazide  (ISO)
ivermectin  (EXP)
lamivudine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
methimazole  (ISO)
metronidazole  (ISO)
morphine  (ISO)
nefazodone  (ISO)
neomycin  (ISO)
nimesulide  (ISO)
oxybenzone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phlorizin  (ISO)
pirinixic acid  (ISO)
rac-lactic acid  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
toluene  (ISO)
triadimefon  (ISO)
trimellitic anhydride  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
zidovudine  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1907568   PMID:9763677   PMID:9878551   PMID:10234612   PMID:10493829   PMID:12477932   PMID:12611891   PMID:12882974   PMID:15489334   PMID:17554300   PMID:17601350   PMID:18230186  
PMID:18977241   PMID:19221180   PMID:19343046   PMID:20877624   PMID:21846720   PMID:21873635   PMID:21988832   PMID:23157686   PMID:24344204   PMID:25437307   PMID:26186194   PMID:26344197  
PMID:27499296   PMID:27519411   PMID:27626371   PMID:28514442   PMID:28844695   PMID:28892042   PMID:29097656   PMID:29395067   PMID:29507755   PMID:29568061   PMID:29615496   PMID:29983374  
PMID:30030361   PMID:30215512   PMID:31091453   PMID:31101807   PMID:31536960   PMID:31586073   PMID:31664822   PMID:31980649   PMID:32296183   PMID:32628020   PMID:32877691   PMID:33961781  
PMID:34373451   PMID:34800366   PMID:35013218   PMID:35063084   PMID:35235311   PMID:35271311   PMID:35575683   PMID:35831314   PMID:37071682   PMID:38039071  


Genomics

Comparative Map Data
NDUFAB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381623,581,014 - 23,596,316 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1623,581,014 - 23,596,316 (-)EnsemblGRCh38hg38GRCh38
GRCh371623,592,335 - 23,607,637 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361623,499,836 - 23,515,140 (-)NCBINCBI36Build 36hg18NCBI36
Build 341623,499,837 - 23,515,140NCBI
Celera1622,370,508 - 22,385,819 (-)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1621,682,894 - 21,697,748 (-)NCBIHuRef
CHM1_11624,603,886 - 24,619,351 (-)NCBICHM1_1
T2T-CHM13v2.01623,856,813 - 23,872,135 (-)NCBIT2T-CHM13v2.0
Ndufab1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397121,686,038 - 121,701,071 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7121,684,626 - 121,701,109 (-)EnsemblGRCm39 Ensembl
GRCm387122,086,815 - 122,101,848 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7122,085,403 - 122,101,886 (-)EnsemblGRCm38mm10GRCm38
MGSCv377129,231,558 - 129,245,362 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367121,879,192 - 121,892,996 (-)NCBIMGSCv36mm8
Celera7121,978,262 - 121,992,066 (-)NCBICelera
Cytogenetic Map7F2NCBI
cM Map765.38NCBI
Ndufab1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81186,075,933 - 186,091,843 (-)NCBIGRCr8
mRatBN7.21176,644,696 - 176,658,131 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1176,644,703 - 176,658,099 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1184,972,598 - 184,985,999 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01192,158,550 - 192,171,951 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01184,842,359 - 184,855,803 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01192,044,209 - 192,057,644 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1192,044,216 - 192,057,612 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01199,106,654 - 199,120,089 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41180,908,331 - 180,921,734NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1174,354,467 - 174,367,869 (-)NCBICelera
Cytogenetic Map1q36NCBI
NDUFAB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21824,992,700 - 25,008,605 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11629,512,277 - 29,527,729 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01614,513,734 - 14,529,087 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11623,833,485 - 23,849,085 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1623,833,485 - 23,849,085 (-)Ensemblpanpan1.1panPan2
NDUFAB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1622,242,398 - 22,253,048 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha623,809,195 - 23,819,836 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0622,384,797 - 22,395,437 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl622,384,805 - 22,395,444 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1622,189,574 - 22,200,230 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0622,092,316 - 22,102,957 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0622,487,392 - 22,498,037 (+)NCBIUU_Cfam_GSD_1.0
Ndufab1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344120,135,060 - 120,142,818 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365018,232,140 - 8,240,739 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365018,232,920 - 8,240,675 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFAB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl322,619,492 - 22,635,288 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1322,619,458 - 22,631,575 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21050,608 - 62,608 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFAB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1521,306,014 - 21,317,721 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660688,480,979 - 8,493,485 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndufab1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247828,740,125 - 8,749,473 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247828,739,614 - 8,748,968 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDUFAB1
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 copy number loss See cases [RCV000052519] Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1		 pathogenic
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 16p12.2-11.2(chr16:22634385-29227323)x3 copy number gain See cases [RCV000135594] Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2		 likely 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 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2		 uncertain significance
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 16p12.2-11.2(chr16:21475039-29043958)x1 copy number loss Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
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 16p12.2(chr16:23567993-23666408)x1 copy number loss See cases [RCV000447156] Chr16:23567993..23666408 [GRCh37]
Chr16:16p12.2		 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 16p12.2-11.2(chr16:22718350-28858721)x4 copy number gain See cases [RCV000511587] Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
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-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2		 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 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_005003.3(NDUFAB1):c.40C>T (p.Pro14Ser) single nucleotide variant not provided [RCV000895425] Chr16:23596251 [GRCh38]
Chr16:23607572 [GRCh37]
Chr16:16p12.2		 benign
NC_000016.9:g.21530207_29332245del deletion not provided [RCV001030428] Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_005003.3(NDUFAB1):c.442A>G (p.Ile148Val) single nucleotide variant not specified [RCV004306891] Chr16:23582313 [GRCh38]
Chr16:23593634 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 copy number gain not provided [RCV001249228] Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2		 not provided
NM_005003.3(NDUFAB1):c.225G>A (p.Thr75=) single nucleotide variant not provided [RCV000891160] Chr16:23587263 [GRCh38]
Chr16:23598584 [GRCh37]
Chr16:16p12.2		 benign
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 16p12.2-11.2(chr16:21576802-29351826)x3 copy number gain not provided [RCV001006786] Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2		 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
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 copy number loss not provided [RCV001795549] Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NC_000016.9:g.(?_23464127)_(23635435_?)del deletion not provided [RCV001951393] Chr16:23464127..23635435 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.9:g.(?_23193865)_(23652612_?)del deletion COG7 congenital disorder of glycosylation [RCV003113761] Chr16:23193865..23652612 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.(?_23543958)_(23619353_?)del deletion not provided [RCV003122502] Chr16:23543958..23619353 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.9:g.(?_23584033)_(23647150_?)del deletion Familial cancer of breast [RCV003122698] Chr16:23584033..23647150 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_005003.3(NDUFAB1):c.196C>T (p.Arg66Cys) single nucleotide variant not specified [RCV004205713] Chr16:23587292 [GRCh38]
Chr16:23598613 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_005003.3(NDUFAB1):c.91C>A (p.Pro31Thr) single nucleotide variant not specified [RCV004234171] Chr16:23596200 [GRCh38]
Chr16:23607521 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_005003.3(NDUFAB1):c.289A>G (p.Lys97Glu) single nucleotide variant not specified [RCV004167207] Chr16:23587199 [GRCh38]
Chr16:23598520 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_005003.3(NDUFAB1):c.16C>T (p.Leu6Phe) single nucleotide variant not specified [RCV004231805] Chr16:23596275 [GRCh38]
Chr16:23607596 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_005003.3(NDUFAB1):c.106C>G (p.Leu36Val) single nucleotide variant not specified [RCV004072731] Chr16:23596185 [GRCh38]
Chr16:23607506 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_005003.3(NDUFAB1):c.245G>A (p.Arg82His) single nucleotide variant not specified [RCV004350579] Chr16:23587243 [GRCh38]
Chr16:23598564 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_005003.3(NDUFAB1):c.37C>G (p.Leu13Val) single nucleotide variant not specified [RCV004484662] Chr16:23596254 [GRCh38]
Chr16:23607575 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_005003.3(NDUFAB1):c.65G>T (p.Arg22Leu) single nucleotide variant not specified [RCV004484668] Chr16:23596226 [GRCh38]
Chr16:23607547 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_005003.3(NDUFAB1):c.99C>A (p.Ser33Arg) single nucleotide variant not specified [RCV004484676] Chr16:23596192 [GRCh38]
Chr16:23607513 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.(?_23605874)_(23640542_?)del deletion Familial cancer of breast [RCV004581596] Chr16:23605874..23640542 [GRCh37]
Chr16:16p12.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:676
Count of miRNA genes:391
Interacting mature miRNAs:422
Transcripts:ENST00000007516, ENST00000484769, ENST00000562133, ENST00000567761, ENST00000570319
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.

Markers in Region
RH64954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,595,893 - 23,596,051UniSTSGRCh37
Build 361623,503,394 - 23,503,552RGDNCBI36
Celera1622,374,066 - 22,374,224RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,686,480 - 21,686,638UniSTS
RH93191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,592,386 - 23,592,507UniSTSGRCh37
Build 361623,499,887 - 23,500,008RGDNCBI36
Celera1622,370,559 - 22,370,680RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,682,945 - 21,683,066UniSTS
GeneMap99-GB4 RH Map16194.86UniSTS
SHGC-32823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,592,382 - 23,592,483UniSTSGRCh37
Build 361623,499,883 - 23,499,984RGDNCBI36
Celera1622,370,555 - 22,370,656RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,682,941 - 21,683,042UniSTS
TNG Radiation Hybrid Map1613683.0UniSTS
Stanford-G3 RH Map161264.0UniSTS
GeneMap99-G3 RH Map161224.0UniSTS
G20300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,595,961 - 23,596,087UniSTSGRCh37
Build 361623,503,462 - 23,503,588RGDNCBI36
Celera1622,374,134 - 22,374,260RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,686,548 - 21,686,674UniSTS
A005L06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,595,961 - 23,596,087UniSTSGRCh37
Build 361623,503,462 - 23,503,588RGDNCBI36
Celera1622,374,134 - 22,374,260RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,686,548 - 21,686,674UniSTS
GeneMap99-GB4 RH Map16197.65UniSTS
NCBI RH Map16229.3UniSTS
SGC33525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,595,824 - 23,595,949UniSTSGRCh37
Build 361623,503,325 - 23,503,450RGDNCBI36
Celera1622,373,997 - 22,374,122RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,686,411 - 21,686,536UniSTS
GeneMap99-GB4 RH Map16193.96UniSTS
Whitehead-RH Map16113.5UniSTS
NCBI RH Map16230.2UniSTS


Sequence


Ensembl Acc Id: ENST00000007516   ⟹   ENSP00000007516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,581,014 - 23,596,316 (-)Ensembl
Ensembl Acc Id: ENST00000484769   ⟹   ENSP00000454812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,581,033 - 23,596,303 (-)Ensembl
Ensembl Acc Id: ENST00000562133   ⟹   ENSP00000454891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,581,014 - 23,596,277 (-)Ensembl
Ensembl Acc Id: ENST00000567761   ⟹   ENSP00000461693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,582,335 - 23,591,153 (-)Ensembl
Ensembl Acc Id: ENST00000570319   ⟹   ENSP00000458770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,581,871 - 23,596,291 (-)Ensembl
RefSeq Acc Id: NM_005003   ⟹   NP_004994
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,581,014 - 23,596,316 (-)NCBI
GRCh371623,592,335 - 23,607,639 (-)RGD
Build 361623,499,836 - 23,515,140 (-)NCBI Archive
Celera1622,370,508 - 22,385,819 (-)RGD
HuRef1621,682,894 - 21,697,748 (-)RGD
CHM1_11624,603,886 - 24,619,351 (-)NCBI
T2T-CHM13v2.01623,856,813 - 23,872,125 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545856   ⟹   XP_011544158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,581,014 - 23,596,316 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054380402   ⟹   XP_054236377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01623,856,813 - 23,872,135 (-)NCBI
RefSeq Acc Id: NP_004994   ⟸   NM_005003
- Peptide Label: precursor
- UniProtKB: B2R4M1 (UniProtKB/Swiss-Prot),   Q9UNV1 (UniProtKB/Swiss-Prot),   O14561 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011544158   ⟸   XM_011545856
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000458770   ⟸   ENST00000570319
Ensembl Acc Id: ENSP00000007516   ⟸   ENST00000007516
Ensembl Acc Id: ENSP00000454891   ⟸   ENST00000562133
Ensembl Acc Id: ENSP00000454812   ⟸   ENST00000484769
Ensembl Acc Id: ENSP00000461693   ⟸   ENST00000567761
RefSeq Acc Id: XP_054236377   ⟸   XM_054380402
- Peptide Label: isoform X1
Protein Domains
Carrier

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14561-F1-model_v2 AlphaFold O14561 1-156 view protein structure

Promoters
RGD ID:6793310
Promoter ID:HG_KWN:23311
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000214058,   OTTHUMT00000214059
Position:
Human AssemblyChrPosition (strand)Source
Build 361623,514,856 - 23,515,356 (-)MPROMDB
RGD ID:6851504
Promoter ID:EP73553
Type:single initiation site
Name:HS_NDUFAB1
Description:NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1,8kDa.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361623,515,136 - 23,515,196EPD
RGD ID:7231609
Promoter ID:EPDNEW_H21549
Type:initiation region
Name:NDUFAB1_1
Description:NADH:ubiquinone oxidoreductase subunit AB1
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
GRCh381623,596,316 - 23,596,376EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7694 AgrOrtholog
COSMIC NDUFAB1 COSMIC
Ensembl Genes ENSG00000004779 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000007516 ENTREZGENE
  ENST00000007516.8 UniProtKB/Swiss-Prot
  ENST00000484769.1 UniProtKB/TrEMBL
  ENST00000562133.5 UniProtKB/TrEMBL
  ENST00000567761.1 UniProtKB/TrEMBL
  ENST00000570319.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000004779 GTEx
HGNC ID HGNC:7694 ENTREZGENE
Human Proteome Map NDUFAB1 Human Proteome Map
InterPro ACP-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP-bd_ACP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ppantetheine_attach_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4706 UniProtKB/Swiss-Prot
NCBI Gene 4706 ENTREZGENE
OMIM 603836 OMIM
PANTHER ACYL CARRIER PROTEIN, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR20863 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31500 PharmGKB
PROSITE CARRIER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHOSPHOPANTETHEINE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47336 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACPM_HUMAN UniProtKB/Swiss-Prot
  B2R4M1 ENTREZGENE
  H3BNE8_HUMAN UniProtKB/TrEMBL
  H3BNK3_HUMAN UniProtKB/TrEMBL
  I3L505_HUMAN UniProtKB/TrEMBL
  O14561 ENTREZGENE
  Q9UNV1 ENTREZGENE
UniProt Secondary B2R4M1 UniProtKB/Swiss-Prot
  Q9UNV1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NDUFAB1  NADH:ubiquinone oxidoreductase subunit AB1    NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa  Symbol and/or name change 5135510 APPROVED