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    NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 [ Homo sapiens (human) ]

    Gene ID: 137682, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NDUFAF6provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 6provided by HGNC
    Primary source
    HGNC:HGNC:28625
    See related
    Ensembl:ENSG00000156170 MIM:612392; AllianceGenome:HGNC:28625
    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
    FRTS5; C8orf38; MC1DN17; lncREST
    Summary
    This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.4), testis (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFAF6 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (94895799..95118496)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (96020781..96243737)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95908027..96130724)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27635 Neighboring gene integrator complex subunit 8 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:95906241-95906802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19374 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27636 Neighboring gene cyclin E2 Neighboring gene tumor protein p53 inducible nuclear protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr8:95960947-95961575 and GRCh37_chr8:95961576-95962205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27639 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:95974156-95974312 Neighboring gene NANOG hESC enhancer GRCh37_chr8:95987500-95988063 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:96036276-96037122 Neighboring gene Sharpr-MPRA regulatory region 2014 Neighboring gene uncharacterized LOC124901981 Neighboring gene RNA, U6 small nuclear 1209, pseudogene Neighboring gene uncharacterized LOC124901980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19379 Neighboring gene MIR3150B host gene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27640 Neighboring gene microRNA 3150b Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27641 Neighboring gene microRNA 3150a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27645 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19383 Neighboring gene uncharacterized LOC124901982 Neighboring gene pleckstrin homology and FYVE domain containing 2 Neighboring gene CRISPRi-validated cis-regulatory element chr8.2347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27650

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

    Bibliography

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    Related articles in PubMed

    1. Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study. Cheng Y, et al. Clin Interv Aging, 2022. PMID 35237031, Free PMC Article
    2. Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood. Baide-Mairena H, et al. Mol Genet Metab, 2019 Mar. PMID 30642748
    3. Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Sung AY, et al. Nat Metab, 2024 Jun. PMID 38720117,
    4. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. Hartmannová H, et al. Hum Mol Genet, 2016 Sep 15. PMID 27466185
    5. Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I). Lemire BD. Mitochondrion, 2017 Jul. PMID 28476317

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
      Title: Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
    2. Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study.
      Title: Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study.
    3. NDUFAF6-related Leigh syndrome is a relevant cause of childhood onset dystonia and isolated bilateral striatal necrosis [review]
      Title: Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
    4. NDUFAF6 encodes a complex I assembly factor and mutations result in complex I deficiency, Leigh syndrome or Acadian variant Fanconi syndrome. Human NDUFAF6 is a mitochondria-targeted 333-amino acid protein belonging to the family of squalene and phytoene synthases.
      Title: Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I).
    5. This paper confirms NDUFAF6 as a genuine morbid gene and proposes the coupling of exome sequencing with mRNA analysis as a method useful for enhancing the exome sequencing detection rate when the simple application of classical inheritance models fails.
      Title: Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.
    6. Affected kidney and lung showed specific loss of the mitochondria-located NDUFAF6 isoform and ultrastructural characteristics of mitochondrial dysfunction. Accordingly, affected tissues had defects in mitochondrial respiration and complex I biogenesis that were corrected with NDUFAF6 cDNA transfection. Our results demonstrate that the Acadian variant of Fanconi Syndrome results from mitochondrial respiratory chain complex
      Title: Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
    7. In a forward genetic screen to identify genes that cause neurodegeneration, we identified sicily, the Drosophila melanogaster homologue of human C8ORF38, the loss of which causes Leigh syndrome.
      Title: The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.
    8. C8orf38 is a crucial factor required for the translation and/or integration of ND1 into an early-stage assembly intermediate
      Title: Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Fanconi renotubular syndrome 5
    MedGen: C5394473 OMIM: 618913 GeneReviews: Not available
    		Compare labs
    Mitochondrial complex 1 deficiency, nuclear type 17
    MedGen: C4748786 OMIM: 618239 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC40214

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
    Names
    UPF0551 protein C8orf38, mitochondrial
    long non-coding RNA REplication STress
    putative phytoene synthase

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_016647.2 RefSeqGene

      Range
      134719..168440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330582.2 → NP_001317511.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variants 3 and 4, encodes isoform 2.
      Source sequence(s)
      AA625387, AC068189, BX282282, CN344829, HY013350
      Consensus CDS
      CCDS83307.1
      UniProtKB/TrEMBL
      A0A075B6P0
      Conserved Domains (1) summary
      pfam00494
      Location:8 → 219
      SQS_PSY; Squalene/phytoene synthase

    2. NM_001354514.2 → NP_001341443.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 2 and 4, encodes isoform 2.
      Source sequence(s)
      AC068189, AC087752
      Consensus CDS
      CCDS83307.1
      UniProtKB/TrEMBL
      A0A075B6P0
      Related
      ENSP00000513278.1, ENST00000697364.1
      Conserved Domains (1) summary
      pfam00494
      Location:8 → 219
      SQS_PSY; Squalene/phytoene synthase

    3. NM_001354515.2 → NP_001341444.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform 2.
      Source sequence(s)
      AC068189, AC087752
      Consensus CDS
      CCDS83307.1
      UniProtKB/TrEMBL
      A0A075B6P0
      Related
      ENSP00000379417.1, ENST00000396111.6
      Conserved Domains (1) summary
      pfam00494
      Location:8 → 219
      SQS_PSY; Squalene/phytoene synthase

    4. NM_001354516.2 → NP_001341445.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC068189, AC087752
      Conserved Domains (1) summary
      pfam00494
      Location:14 → 259
      SQS_PSY; Squalene/phytoene synthase

    5. NM_001354517.2 → NP_001341446.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 7 and 8, encodes isoform 4.
      Source sequence(s)
      AC068189
      Conserved Domains (1) summary
      pfam00494
      Location:1 → 200
      SQS_PSY; Squalene/phytoene synthase

    6. NM_001354518.2 → NP_001341447.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 6 and 8, encodes isoform 4.
      Source sequence(s)
      AC068189
      Conserved Domains (1) summary
      pfam00494
      Location:1 → 200
      SQS_PSY; Squalene/phytoene synthase

    7. NM_001354519.2 → NP_001341448.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 6 and 7, encodes isoform 4.
      Source sequence(s)
      AC068189
      Conserved Domains (1) summary
      pfam00494
      Location:1 → 200
      SQS_PSY; Squalene/phytoene synthase

    8. NM_001354521.2 → NP_001341450.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC068189
      Conserved Domains (1) summary
      cl00210
      Location:8 → 200
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    9. NM_001354522.2 → NP_001341451.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 11-19, encodes isoform 6.
      Source sequence(s)
      AC068189, AC087752
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    10. NM_001354524.2 → NP_001341453.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 10 and 12-19, encodes isoform 6.
      Source sequence(s)
      AC068189, AC087752
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    11. NM_001354525.2 → NP_001341454.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 10, 11, and 13-19, encodes isoform 6.
      Source sequence(s)
      AC068189, AC087752
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    12. NM_001354527.2 → NP_001341456.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 10-12 and 14-19, encodes isoform 6.
      Source sequence(s)
      AC068189, BC028166
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    13. NM_001354528.2 → NP_001341457.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 10-13 and 15-19, encodes isoform 6.
      Source sequence(s)
      AC068189
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    14. NM_001354529.2 → NP_001341458.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 10-14 and 16-19, encodes isoform 6.
      Source sequence(s)
      AC068189
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    15. NM_001354530.2 → NP_001341459.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 10-15 and 17-19, encodes isoform 6.
      Source sequence(s)
      AC068189
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    16. NM_001354531.2 → NP_001341460.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 10-16, 18, and 19, encodes isoform 6.
      Source sequence(s)
      AC068189
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    17. NM_001354532.2 → NP_001341461.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variants 10-17 and 19, encodes isoform 6.
      Source sequence(s)
      AC068189
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    18. NM_001354533.2 → NP_001341462.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variants 10-18, encodes isoform 6.
      Source sequence(s)
      AC068189
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    19. NM_001354534.2 → NP_001341463.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC068189, AC087752
      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    20. NM_152416.4 → NP_689629.2  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_689629.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA489642, AK298631, BF030925, BM755491, DA897677
      Consensus CDS
      CCDS6266.2
      UniProtKB/Swiss-Prot
      A8MT28, A8MWF0, B4DQ45, Q330K2, Q8N6U6
      Related
      ENSP00000379430.4, ENST00000396124.9
      Conserved Domains (1) summary
      pfam00494
      Location:65 → 311
      SQS_PSY; Squalene/phytoene synthase

    RNA

    1. NR_148903.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087752

    2. NR_148904.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087752

    3. NR_148905.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087752
      Related
      ENST00000697356.1

    4. NR_148906.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087752

    5. NR_148907.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087752

    6. NR_148908.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087752
      Related
      ENST00000697359.1

    7. NR_148909.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087752

    8. NR_148910.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068189

    9. NR_148911.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068189

    10. NR_148912.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068189

    11. NR_148913.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018801, AC068189

    12. NR_148914.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018801, AC068189

    13. NR_148915.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068189, AK301414

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      94895799..95118496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      96020781..96243737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q330K2.2 GenPept UniProtKB/Swiss-Prot:Q330K2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous