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Protein

NIF3-like protein 1

Gene

NIF3L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May function as a transcriptional corepressor through its interaction with COPS2, negatively regulating the expression of genes involved in neuronal differentiation.By similarity

GO - Molecular functioni

  • identical protein binding Source: UniProtKB
  • transcription factor binding Source: BHF-UCL

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
NIF3-like protein 11 Publication
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein1 Publication
Gene namesi
Name:NIF3L1Imported
Synonyms:ALS2CR11 Publication
ORF Names:MDS015, My018
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000196290.14
HGNCiHGNC:13390 NIF3L1
MIMi605778 gene
neXtProtiNX_Q9GZT8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi60491
OpenTargetsiENSG00000196290
PharmGKBiPA31629

Polymorphism and mutation databases

BioMutaiNIF3L1
DMDMi160112850

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001473531 – 377NIF3-like protein 1Add BLAST377

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei109N6-acetyllysineCombined sources1
Modified residuei255PhosphothreonineBy similarity1
Modified residuei259PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9GZT8
MaxQBiQ9GZT8
PaxDbiQ9GZT8
PeptideAtlasiQ9GZT8
PRIDEiQ9GZT8
ProteomicsDBi80135
80136 [Q9GZT8-2]
80137 [Q9GZT8-3]

PTM databases

iPTMnetiQ9GZT8
PhosphoSitePlusiQ9GZT8

Expressioni

Gene expression databases

BgeeiENSG00000196290 Expressed in 224 organ(s), highest expression level in secondary oocyte
CleanExiHS_NIF3L1
ExpressionAtlasiQ9GZT8 baseline and differential
GenevisibleiQ9GZT8 HS

Organism-specific databases

HPAiHPA036335
HPA036336
HPA061466

Interactioni

Subunit structurei

Homodimer (PubMed:12951069). Interacts with COPS2 (By similarity). Interacts with THOC7 (PubMed:12951069).By similarity1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121922, 136 interactors
IntActiQ9GZT8, 92 interactors
MINTiQ9GZT8
STRINGi9606.ENSP00000386394

Structurei

3D structure databases

ProteinModelPortaliQ9GZT8
SMRiQ9GZT8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni244 – 377Mediates interaction with COPS2By similarityAdd BLAST134

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG4131 Eukaryota
COG0327 LUCA
GeneTreeiENSGT00390000003590
HOGENOMiHOG000014260
HOVERGENiHBG029337
InParanoidiQ9GZT8
OMAiYHPPIFK
OrthoDBiEOG091G0AAM
PhylomeDBiQ9GZT8
TreeFamiTF324125

Family and domain databases

InterProiView protein in InterPro
IPR002678 GTP_cyclohydrolase_I/Nif3
IPR036069 GTP_cyclohydrolase_I/Nif3_sf
IPR017222 NIF3L1_animal
PANTHERiPTHR13799 PTHR13799, 1 hit
PfamiView protein in Pfam
PF01784 NIF3, 1 hit
PIRSFiPIRSF037490 UCP037490_NIF3_euk, 1 hit
SUPFAMiSSF102705 SSF102705, 1 hit
TIGRFAMsiTIGR00486 YbgI_SA1388, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9GZT8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLSSCVRPVP TTVRFVDSLI CNSSRSFMDL KALLSSLNDF ASLSFAESWD
60 70 80 90 100
NVGLLVEPSP PHTVNTLFLT NDLTEEVMEE VLQKKADLIL SYHPPIFRPM
110 120 130 140 150
KRITWNTWKE RLVIRALENR VGIYSPHTAY DAAPQGVNNW LAKGLGACTS
160 170 180 190 200
RPIHPSKAPN YPTEGNHRVE FNVNYTQDLD KVMSAVKGID GVSVTSFSAR
210 220 230 240 250
TGNEEQTRIN LNCTQKALMQ VVDFLSRNKQ LYQKTEILSL EKPLLLHTGM
260 270 280 290 300
GRLCTLDESV SLATMIDRIK RHLKLSHIRL ALGVGRTLES QVKVVALCAG
310 320 330 340 350
SGSSVLQGVE ADLYLTGEMS HHDTLDAASQ GINVILCEHS NTERGFLSDL
360 370
RDMLDSHLEN KINIILSETD RDPLQVV
Length:377
Mass (Da):41,968
Last modified:November 13, 2007 - v2
Checksum:i41BDCADDD81CA0D8
GO
Isoform 2 (identifier: Q9GZT8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: Missing.

Show »
Length:350
Mass (Da):38,984
Checksum:i81F1A5AD35B25ED7
GO
Isoform 3 (identifier: Q9GZT8-3) [UniParc]FASTAAdd to basket
Also known as: beta

The sequence of this isoform differs from the canonical sequence as follows:
     243-377: PLLLHTGMGR...ETDRDPLQVV → SLKSKSWPCV...MILWMLLPKE

Show »
Length:285
Mass (Da):32,164
Checksum:i5084AD8C6E9700EC
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6X734Q6X734_HUMAN
NIF3-like protein 1
NIF3L1
252Annotation score:
E7EXA3E7EXA3_HUMAN
NIF3-like protein 1
NIF3L1
209Annotation score:
B8ZZI0B8ZZI0_HUMAN
NIF3-like protein 1
NIF3L1
162Annotation score:
C9JN42C9JN42_HUMAN
NIF3-like protein 1
NIF3L1
162Annotation score:
H7C1A8H7C1A8_HUMAN
NIF3-like protein 1
NIF3L1
84Annotation score:

Sequence cautioni

The sequence AAG14952 differs from that shown. Reason: Frameshift at positions 104 and 109.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti109K → E in AAG14952 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037084324T → I. Corresponds to variant dbSNP:rs7917Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0293281 – 27Missing in isoform 2. 4 PublicationsAdd BLAST27
Alternative sequenceiVSP_043248243 – 377PLLLH…PLQVV → SLKSKSWPCVLVLGAAFCRV LRLTFTSQVRCPIMILWMLL PKE in isoform 3. 1 PublicationAdd BLAST135

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF283538 mRNA Translation: AAG44846.1
AB038949 mRNA Translation: BAB32499.1
AY251943 mRNA Translation: AAP84063.1
AF060513 mRNA Translation: AAG43131.1
AF182416 mRNA Translation: AAG14952.1 Frameshift.
AK023378 mRNA Translation: BAB14551.1
AC005037 Genomic DNA Translation: AAY14724.1
CH471063 Genomic DNA Translation: EAW70224.1
BC007654 mRNA Translation: AAH07654.1
CCDSiCCDS42797.1 [Q9GZT8-2]
CCDS46485.1 [Q9GZT8-1]
CCDS46486.1 [Q9GZT8-3]
RefSeqiNP_001129511.1, NM_001136039.2 [Q9GZT8-1]
NP_001135827.1, NM_001142355.1 [Q9GZT8-2]
NP_001135828.1, NM_001142356.1 [Q9GZT8-3]
NP_068596.2, NM_021824.3 [Q9GZT8-2]
XP_005246799.1, XM_005246742.3 [Q9GZT8-1]
XP_011509884.1, XM_011511582.1 [Q9GZT8-1]
XP_011509885.1, XM_011511583.1
XP_011509886.1, XM_011511584.1 [Q9GZT8-1]
XP_011509887.1, XM_011511585.1 [Q9GZT8-2]
XP_016860119.1, XM_017004630.1 [Q9GZT8-1]
UniGeneiHs.145284

Genome annotation databases

EnsembliENST00000359683; ENSP00000352711; ENSG00000196290 [Q9GZT8-2]
ENST00000409020; ENSP00000386394; ENSG00000196290 [Q9GZT8-1]
ENST00000409357; ENSP00000387315; ENSG00000196290 [Q9GZT8-1]
ENST00000409588; ENSP00000387021; ENSG00000196290 [Q9GZT8-3]
GeneIDi60491
KEGGihsa:60491
UCSCiuc002uwn.3 human [Q9GZT8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF283538 mRNA Translation: AAG44846.1
AB038949 mRNA Translation: BAB32499.1
AY251943 mRNA Translation: AAP84063.1
AF060513 mRNA Translation: AAG43131.1
AF182416 mRNA Translation: AAG14952.1 Frameshift.
AK023378 mRNA Translation: BAB14551.1
AC005037 Genomic DNA Translation: AAY14724.1
CH471063 Genomic DNA Translation: EAW70224.1
BC007654 mRNA Translation: AAH07654.1
CCDSiCCDS42797.1 [Q9GZT8-2]
CCDS46485.1 [Q9GZT8-1]
CCDS46486.1 [Q9GZT8-3]
RefSeqiNP_001129511.1, NM_001136039.2 [Q9GZT8-1]
NP_001135827.1, NM_001142355.1 [Q9GZT8-2]
NP_001135828.1, NM_001142356.1 [Q9GZT8-3]
NP_068596.2, NM_021824.3 [Q9GZT8-2]
XP_005246799.1, XM_005246742.3 [Q9GZT8-1]
XP_011509884.1, XM_011511582.1 [Q9GZT8-1]
XP_011509885.1, XM_011511583.1
XP_011509886.1, XM_011511584.1 [Q9GZT8-1]
XP_011509887.1, XM_011511585.1 [Q9GZT8-2]
XP_016860119.1, XM_017004630.1 [Q9GZT8-1]
UniGeneiHs.145284

3D structure databases

ProteinModelPortaliQ9GZT8
SMRiQ9GZT8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121922, 136 interactors
IntActiQ9GZT8, 92 interactors
MINTiQ9GZT8
STRINGi9606.ENSP00000386394

PTM databases

iPTMnetiQ9GZT8
PhosphoSitePlusiQ9GZT8

Polymorphism and mutation databases

BioMutaiNIF3L1
DMDMi160112850

Proteomic databases

EPDiQ9GZT8
MaxQBiQ9GZT8
PaxDbiQ9GZT8
PeptideAtlasiQ9GZT8
PRIDEiQ9GZT8
ProteomicsDBi80135
80136 [Q9GZT8-2]
80137 [Q9GZT8-3]

Protocols and materials databases

DNASUi60491
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359683; ENSP00000352711; ENSG00000196290 [Q9GZT8-2]
ENST00000409020; ENSP00000386394; ENSG00000196290 [Q9GZT8-1]
ENST00000409357; ENSP00000387315; ENSG00000196290 [Q9GZT8-1]
ENST00000409588; ENSP00000387021; ENSG00000196290 [Q9GZT8-3]
GeneIDi60491
KEGGihsa:60491
UCSCiuc002uwn.3 human [Q9GZT8-1]

Organism-specific databases

CTDi60491
DisGeNETi60491
EuPathDBiHostDB:ENSG00000196290.14
GeneCardsiNIF3L1
HGNCiHGNC:13390 NIF3L1
HPAiHPA036335
HPA036336
HPA061466
MIMi605778 gene
neXtProtiNX_Q9GZT8
OpenTargetsiENSG00000196290
PharmGKBiPA31629
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4131 Eukaryota
COG0327 LUCA
GeneTreeiENSGT00390000003590
HOGENOMiHOG000014260
HOVERGENiHBG029337
InParanoidiQ9GZT8
OMAiYHPPIFK
OrthoDBiEOG091G0AAM
PhylomeDBiQ9GZT8
TreeFamiTF324125

Miscellaneous databases

GeneWikiiNIF3L1
GenomeRNAii60491
PROiPR:Q9GZT8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196290 Expressed in 224 organ(s), highest expression level in secondary oocyte
CleanExiHS_NIF3L1
ExpressionAtlasiQ9GZT8 baseline and differential
GenevisibleiQ9GZT8 HS

Family and domain databases

InterProiView protein in InterPro
IPR002678 GTP_cyclohydrolase_I/Nif3
IPR036069 GTP_cyclohydrolase_I/Nif3_sf
IPR017222 NIF3L1_animal
PANTHERiPTHR13799 PTHR13799, 1 hit
PfamiView protein in Pfam
PF01784 NIF3, 1 hit
PIRSFiPIRSF037490 UCP037490_NIF3_euk, 1 hit
SUPFAMiSSF102705 SSF102705, 1 hit
TIGRFAMsiTIGR00486 YbgI_SA1388, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNIF3L_HUMAN
AccessioniPrimary (citable) accession number: Q9GZT8
Secondary accession number(s): Q53TX4
, Q6X735, Q9H2D2, Q9HC18
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2002
Last sequence update: November 13, 2007
Last modified: November 7, 2018
This is version 161 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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