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NIF3L1 NGG1 interacting factor 3 like 1 [ Homo sapiens (human) ]

Gene ID: 60491, updated on 9-Feb-2020

Summary

Official Symbol
NIF3L1provided by HGNC
Official Full Name
NGG1 interacting factor 3 like 1provided by HGNC
Primary source
HGNC:HGNC:13390
See related
Ensembl:ENSG00000196290 MIM:605778
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CALS-7; MDS015; ALS2CR1
Expression
Ubiquitous expression in lymph node (RPKM 6.5), testis (RPKM 6.0) and 25 other tissues See more
Orthologs

Genomic context

See NIF3L1 in Genome Data Viewer
Location:
2q33.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (200889327..200903932)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201754050..201768655)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CDC like kinase 1 Neighboring gene RNA, U6 small nuclear 312, pseudogene Neighboring gene peptidylprolyl isomerase like 3 Neighboring gene RNA, U6 small nuclear 762, pseudogene Neighboring gene origin recognition complex subunit 2 Neighboring gene uncharacterized LOC105373835 Neighboring gene family with sequence similarity 126 member B Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 35

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of nucleic acid-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
NIF3-like protein 1
Names
GTP cyclohydrolase I
NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1
NIF3 NGG1 interacting factor 3-like 1
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 1
amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein
putative GTP cyclohydrolase 1 type 2 NIF3L1
NP_001129511.1
NP_001135827.1
NP_001135828.1
NP_001356370.1
NP_001356371.1
NP_001356372.1
NP_001356373.1
NP_001356374.1
NP_068596.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001136039.2NP_001129511.1  NIF3-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001129511.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF283538, BM974977, BP194872
    Consensus CDS
    CCDS46485.1
    UniProtKB/Swiss-Prot
    Q9GZT8
    UniProtKB/TrEMBL
    A0A024R3V7
    Conserved Domains (1) summary
    pfam01784
    Location:33354
    NIF3; NIF3 (NGG1p interacting factor 3)
  2. NM_001142355.1NP_001135827.1  NIF3-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001135827.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream in-frame translation initiation codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AF060513, BM974977, BP194872
    Consensus CDS
    CCDS42797.1
    UniProtKB/Swiss-Prot
    Q9GZT8
    UniProtKB/TrEMBL
    A0A024R3V5
    Conserved Domains (1) summary
    pfam01784
    Location:6327
    NIF3; NIF3 (NGG1p interacting factor 3)
  3. NM_001142356.1NP_001135828.1  NIF3-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001135828.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 1, resulting in a frameshift. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AY251943, BM974977
    Consensus CDS
    CCDS46486.1
    UniProtKB/Swiss-Prot
    Q9GZT8
    Related
    ENSP00000387021.1, ENST00000409588.1
    Conserved Domains (1) summary
    pfam01784
    Location:33196
    NIF3; NIF3 (NGG1p interacting factor 3)
  4. NM_001369441.2NP_001356370.1  NIF3-like protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC005037
    Related
    ENSP00000386394.1, ENST00000409020.5
    Conserved Domains (1) summary
    pfam01784
    Location:33354
    NIF3; NIF3 (NGG1p interacting factor 3)
  5. NM_001369442.1NP_001356371.1  NIF3-like protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC005037
    Conserved Domains (1) summary
    pfam01784
    Location:33354
    NIF3; NIF3 (NGG1p interacting factor 3)
  6. NM_001369443.1NP_001356372.1  NIF3-like protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC005037
    Conserved Domains (1) summary
    pfam01784
    Location:6327
    NIF3; NIF3 (NGG1p interacting factor 3)
  7. NM_001369444.1NP_001356373.1  NIF3-like protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC005037
    Conserved Domains (1) summary
    pfam01784
    Location:33354
    NIF3; NIF3 (NGG1p interacting factor 3)
  8. NM_001369445.2NP_001356374.1  NIF3-like protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC005037
    Conserved Domains (1) summary
    pfam01784
    Location:33354
    NIF3; NIF3 (NGG1p interacting factor 3)
  9. NM_021824.3NP_068596.2  NIF3-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_068596.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream in-frame translation initiation codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AB038949, BG724012, BM974977
    Consensus CDS
    CCDS42797.1
    UniProtKB/Swiss-Prot
    Q9GZT8
    UniProtKB/TrEMBL
    A0A024R3V5
    Related
    ENSP00000352711.4, ENST00000359683.8
    Conserved Domains (1) summary
    pfam01784
    Location:6327
    NIF3; NIF3 (NGG1p interacting factor 3)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    200889327..200903932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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