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Protein

NIF3-like protein 1

Gene

NIF3L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

HGNCiHGNC:13390. NIF3L1.

Subcellular locationi

  • Cytoplasm 2 Publications
  • Nucleus By similarity

  • Note: Interaction with COPS2 may regulate localization to the nucleus.By similarity

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • mitochondrion Source: GO_Central
  • nucleus Source: UniProtKB

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.

PTM databases

iPTMnetiQ9GZT8.
PhosphoSitePlusiQ9GZT8.

Expressioni

Gene expression databases

BgeeiENSG00000196290.
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

Show more details

GO - Molecular functioni

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

Protein-protein interaction databases

BioGridi121922. 127 interactors.
IntActiQ9GZT8. 88 interactors.
MINTiMINT-1438019.
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.
OMAiTNDLTEP.
OrthoDBiEOG091G0AAM.
PhylomeDBiQ9GZT8.
TreeFamiTF324125.

Family and domain databases

InterProiView protein in InterPro
IPR002678. GTP_cyclohydrolase_I/Nif3.
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

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

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. [Q9GZT8-1]
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

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. [Q9GZT8-1]
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. 127 interactors.
IntActiQ9GZT8. 88 interactors.
MINTiMINT-1438019.
STRINGi9606.ENSP00000386394.

PTM databases

iPTMnetiQ9GZT8.
PhosphoSitePlusiQ9GZT8.

Polymorphism and mutation databases

BioMutaiNIF3L1.
DMDMi160112850.

Proteomic databases

EPDiQ9GZT8.
MaxQBiQ9GZT8.
PaxDbiQ9GZT8.
PeptideAtlasiQ9GZT8.
PRIDEiQ9GZT8.

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.
GeneCardsiNIF3L1.
HGNCiHGNC:13390. NIF3L1.
HPAiHPA036335.
HPA036336.
HPA061466.
MIMi605778. gene.
neXtProtiNX_Q9GZT8.
OpenTargetsiENSG00000196290.
PharmGKBiPA31629.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4131. Eukaryota.
COG0327. LUCA.
GeneTreeiENSGT00390000003590.
HOGENOMiHOG000014260.
HOVERGENiHBG029337.
InParanoidiQ9GZT8.
OMAiTNDLTEP.
OrthoDBiEOG091G0AAM.
PhylomeDBiQ9GZT8.
TreeFamiTF324125.

Miscellaneous databases

GeneWikiiNIF3L1.
GenomeRNAii60491.
PROiQ9GZT8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196290.
CleanExiHS_NIF3L1.
ExpressionAtlasiQ9GZT8. baseline and differential.
GenevisibleiQ9GZT8. HS.

Family and domain databases

InterProiView protein in InterPro
IPR002678. GTP_cyclohydrolase_I/Nif3.
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: March 15, 2017
This is version 149 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. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.