Format

Send to:

Choose Destination

NDUFC1 NADH:ubiquinone oxidoreductase subunit C1 [ Homo sapiens (human) ]

Gene ID: 4717, updated on 24-Nov-2020

Summary

Official Symbol
NDUFC1provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit C1provided by HGNC
Primary source
HGNC:HGNC:7705
See related
Ensembl:ENSG00000109390 MIM:603844
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KFYI
Summary
The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Expression
Ubiquitous expression in kidney (RPKM 30.2), heart (RPKM 27.3) and 25 other tissues See more
Orthologs

Genomic context

See NDUFC1 in Genome Data Viewer
Location:
4q31.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (139289917..139302551, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (140211071..140223705, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1074, pseudogene Neighboring gene mitochondria localized glutamic acid rich protein Neighboring gene N-alpha-acetyltransferase 15, NatA auxiliary subunit Neighboring gene RNA, U6 small nuclear 1214, pseudogene Neighboring gene uncharacterized LOC105377449

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MGARP

Homology

Clone Names

  • MGC117464, MGC126847, MGC138266

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
Names
CI-KFYI
NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa
NADH-ubiquinone oxidoreductase KFYI subunit
complex I KFYI subunit
complex I-KFYI

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_001184986.1NP_001171915.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001171915.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    CA313899, CX163301, W56292
    Consensus CDS
    CCDS3746.1
    UniProtKB/Swiss-Prot
    O43677
    Related
    ENSP00000441126.1, ENST00000544855.5
    Conserved Domains (1) summary
    pfam15088
    Location:2876
    NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
  2. NM_001184987.1NP_001171916.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001171916.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    BM768825, BU677336, W56292
    Consensus CDS
    CCDS3746.1
    UniProtKB/Swiss-Prot
    O43677
    Related
    ENSP00000439882.1, ENST00000539387.5
    Conserved Domains (1) summary
    pfam15088
    Location:2876
    NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
  3. NM_001184988.1NP_001171917.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001171917.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    BM768825, W56292
    Consensus CDS
    CCDS3746.1
    UniProtKB/Swiss-Prot
    O43677
    Related
    ENSP00000377775.1, ENST00000394228.5
    Conserved Domains (1) summary
    pfam15088
    Location:2876
    NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
  4. NM_001184989.2NP_001171918.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001171918.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    CB160001, W56292
    Consensus CDS
    CCDS3746.1
    UniProtKB/Swiss-Prot
    O43677
    Related
    ENSP00000377770.1, ENST00000394223.2
    Conserved Domains (1) summary
    pfam15088
    Location:2876
    NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
  5. NM_001184990.1NP_001171919.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001171919.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    AC097376, BM768825, CN347371, W56292
    Consensus CDS
    CCDS3746.1
    UniProtKB/Swiss-Prot
    O43677
    Related
    ENSP00000425882.1, ENST00000503997.5
    Conserved Domains (1) summary
    pfam15088
    Location:2876
    NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
  6. NM_001184991.1NP_001171920.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001171920.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    AC097376, CB047240, CX163301, W56292
    Consensus CDS
    CCDS3746.1
    UniProtKB/Swiss-Prot
    O43677
    Related
    ENSP00000440133.1, ENST00000539002.5
    Conserved Domains (1) summary
    pfam15088
    Location:2876
    NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
  7. NM_002494.3NP_002485.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_002485.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    AC097376, BC107682, BG701467, W56292
    Consensus CDS
    CCDS3746.1
    UniProtKB/Swiss-Prot
    O43677
    Related
    ENSP00000421195.1, ENST00000505036.5
    Conserved Domains (1) summary
    pfam15088
    Location:2876
    NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    139289917..139302551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center