Human Gene NIF3L1 (uc002uwm.2)
Description: Homo sapiens NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) (NIF3L1), transcript variant 1, mRNA.
Transcript (Including UTRs)
Position: hg19 chr2:201,754,050-201,768,655 Size: 14,606 Total Exon Count: 7 Strand: +
Coding Region
Position: hg19 chr2:201,756,667-201,768,401 Size: 11,735 Coding Exon Count: 6
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: NIF3L_HUMAN
DESCRIPTION: RecName: Full=NIF3-like protein 1; AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein;
SUBUNIT: Homodimer. Interacts with COPS2 (By similarity). Interacts with THOC7.INTERACTION: Q8N7W2:BEND7; NbExp=3; IntAct=EBI-740897, EBI-743382; P49366:DHPS; NbExp=3; IntAct=EBI-740897, EBI-741925; Q9UI14:RABAC1; NbExp=3; IntAct=EBI-740897, EBI-712367; Q15645:TRIP13; NbExp=3; IntAct=EBI-740897, EBI-358993;SUBCELLULAR LOCATION: Cytoplasm.SIMILARITY: Belongs to the UPF0135 (NIF3) family.SEQUENCE CAUTION: Sequence=AAG14952.1; Type=Frameshift; Positions=104, 109;
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): NIF3L1
CDC HuGE Published Literature: NIF3L1
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR002678 - Interacting_NIF3
IPR017222 - UCP037490_NIF3_euk
Pfam Domains: PF01784 - NIF3 (NGG1p interacting factor 3)
SCOP Domains: 102705 - NIF3 (NGG1p interacting factor 3)-like
ModBase Predicted Comparative 3D Structure on Q9GZT8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
AF060513 - Homo sapiens clone 016d06 My018 protein mRNA, complete cds.AF283538 - Homo sapiens NIF3L1 protein mRNA, complete cds.AK314709 - Homo sapiens cDNA, FLJ95566.AK225905 - Homo sapiens mRNA for NIF3 NGG1 interacting factor 3-like 1 variant, clone: FCC119H02.AB038949 - Homo sapiens ALS2CR1 mRNA for amyotrophic lateral sclerosis 2, candidate 1, complete cds.AK023378 - Homo sapiens cDNA FLJ13316 fis, clone OVARC1001555, weakly similar to NGG1-INTERACTING FACTOR 3.AF182416 - Homo sapiens MDS015 (MDS015) mRNA, complete cds.AY251943 - Homo sapiens NIF3L1 isoform beta (NIF3L1) mRNA, complete cds.AY251944 - Homo sapiens NIF3L1 isoform gamma (NIF3L1) mRNA, complete cds.BC007654 - Homo sapiens NIF3 NGG1 interacting factor 3-like 1 (S. pombe), mRNA (cDNA clone MGC:2595 IMAGE:3346099), complete cds.CU675739 - Synthetic construct Homo sapiens gateway clone IMAGE:100019149 5' read NIF3L1 mRNA.DQ896612 - Synthetic construct Homo sapiens clone IMAGE:100011072; FLH195910.01L; RZPDo839H08151D NIF3 NGG1 interacting factor 3-like 1 (S. pombe) (NIF3L1) gene, encodes complete protein.KJ894496 - Synthetic construct Homo sapiens clone ccsbBroadEn_03890 NIF3L1 gene, encodes complete protein.AB463931 - Synthetic construct DNA, clone: pF1KB6454, Homo sapiens NIF3L1 gene for NIF3 NGG1 interacting factor 3-like 1, without stop codon, in Flexi system.AL834430 - Homo sapiens mRNA; cDNA DKFZp762L015 (from clone DKFZp762L015).AK125652 - Homo sapiens cDNA FLJ43664 fis, clone SYNOV4006256.JD052286 - Sequence 33310 from Patent EP1572962.JD382447 - Sequence 363471 from Patent EP1572962.
Other Names for This Gene
Alternate Gene Symbols: ALS2CR1, MDS015, My018, NIF3L_HUMAN, NM_001136039, NP_001129511, Q53TX4, Q6X735, Q9GZT8, Q9H2D2, Q9HC18UCSC ID: uc002uwm.2RefSeq Accession: NM_001136039
Protein: Q9GZT8
(aka NIF3L_HUMAN or NF3L_HUMAN)
CCDS: CCDS46485.1
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_001136039.2
exon count:
7 CDS single in 3' UTR:
no
RNA size:
1497
ORF size:
1134 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
2368.00 frame shift in genome:
no
% Coverage:
98.80
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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