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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SDHAF1 Gene

protein-coding   GIFtS: 39
GCID: GC19P036486

Succinate Dehydrogenase Complex Assembly Factor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Succinate Dehydrogenase Complex Assembly Factor 11 2
LYR Motif Containing 81 2
LYR Motif-Containing Protein 82 3
SDH Assembly Factor 12 3
LYRM82
Succinate Dehydrogenase Assembly Factor 1, Mitochondrial2

External Ids:    HGNC: 338671   Entrez Gene: 6440962   Ensembl: ENSG000002051387   OMIM: 6128485   UniProtKB: A6NFY73   

Export aliases for SDHAF1 gene to outside databases

Previous GC identifers: GC19P041178 GC19P032991


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SDHAF1 Gene:
The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4
individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH
assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with
SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).(provided by RefSeq, Mar 2010)

GeneCards Summary for SDHAF1 Gene: 
SDHAF1 (succinate dehydrogenase complex assembly factor 1) is a protein-coding gene. Diseases associated with SDHAF1 include mitochondrial complex ii deficiency, and mitochondrial respiratory chain complex ii deficiency, sdhaf1-related.

UniProtKB/Swiss-Prot: SDHF1_HUMAN, A6NFY7
Function: Plays an essential role in succinate dehydrogenase complex (SDH) assembly, a complex involved in complex
II of the mitochondrial electron transport chain. Probably acts by participating in mitochondrial biosynthesis of
iron-sulfur centers for complex II (Probable)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SDHAF1
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SDHAF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.12   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.12

SDHAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SDHAF1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P036486:  view genomic region     (about GC identifiers)

Start:
36,486,090 bp from pter      End:
36,487,220 bp from pter
Size:
1,131 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SDHF1_HUMAN, A6NFY7 (See protein sequence)
Recommended Name: Succinate dehydrogenase assembly factor 1, mitochondrial  
Size: 115 amino acids; 12806 Da
Subcellular location: Mitochondrion matrix (Probable)
Secondary accessions: B2RPM7

Explore the universe of human proteins at neXtProt for SDHAF1: NX_A6NFY7

Explore proteomics data for SDHAF1 at MOPED 

SDHAF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SDHAF1 Protein Expression

REFSEQ proteins: NP_001036096.1  
ENSEMBL proteins: 
 ENSP00000368165  

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IDA19465911
GO:0005759mitochondrial matrix IEA--

SDHAF1 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
MITOAF: Mitochondrial respiratory chain complex assembly factors

1 InterPro protein domain:
 IPR008011 Complex1_LYR

Graphical View of Domain Structure for InterPro Entry A6NFY7

ProtoNet protein and cluster: A6NFY7

UniProtKB/Swiss-Prot: SDHF1_HUMAN, A6NFY7
Similarity: Belongs to the complex I LYR family. SDHAF1 subfamily


SDHAF1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: SDHF1_HUMAN, A6NFY7
Function: Plays an essential role in succinate dehydrogenase complex (SDH) assembly, a complex involved in complex
II of the mitochondrial electron transport chain. Probably acts by participating in mitochondrial biosynthesis of
iron-sulfur centers for complex II (Probable)

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



UniProtKB/Swiss-Prot: SDHF1_HUMAN, A6NFY7
Pathway: Cofactor biosynthesis; iron-sulfur cluster biosynthesis

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SDHAF1

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016226iron-sulfur cluster assembly NAS19465911
GO:0034553mitochondrial respiratory chain complex II assembly IMP19465911

SDHAF1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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Browse Tocris compounds for SDHAF1 (SDHF1)

Search CenterWatch for drugs/clinical trials and news about SDHAF1 / SDHF1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SDHAF1 gene: 
NM_001042631.2  

Unigene Cluster for SDHAF1:

Succinate dehydrogenase complex assembly factor 1
Hs.356460  [show with all ESTs]
Unigene Representative Sequence: BM802990
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000378887(uc002ocp.3)
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Additional mRNA sequence: 

BC007205.1 BC064605.1 BC069054.1 BC137516.1 BC137517.1 

3 DOTS entries:

DT.97797048  DT.95374089  DT.97785795 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SDHAF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGGAAGGGGT
SDHAF1 Expression
About this image


See SDHAF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SDHAF1

SOURCE GeneReport for Unigene cluster: Hs.356460

UniProtKB/Swiss-Prot: SDHF1_HUMAN, A6NFY7
Tissue specificity: Ubiquitously expressed

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHAF1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for SDHAF1 gene from 2/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Sdhaf11 , 5 succinate dehydrogenase complex assembly factor 11, 5 80.58(n)1
80(a)1
  7 (17.39 cM)5
683321  NM_001033140.31  NP_001028312.21 
 303214065 
zebrafish
(Danio rerio)
Actinopterygii sdhaf16
succinate dehydrogenase complex assembly factor 1
46(a)
1 ↔ 1
21(20167186-20170940)


ENSEMBL Gene Tree for SDHAF1 (if available)
TreeFam Gene Tree for SDHAF1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/68 SNPs in SDHAF1 are shown (see all 68)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0580984
Mitochondrial complex II deficiency (MT-C2D)4--see VAR_0580982 G R mis40--------
VAR_0580974
Mitochondrial complex II deficiency (MT-C2D)4--see VAR_0580972 R P mis40--------
rs1488179041,2
--36643293(+) ATAGAC/TGTTTA 1 -- us2k10--------
rs1844657801,2
--36643426(+) AAAAAA/CTAAAT 1 -- us2k10--------
rs1425285401,2
--36643437(+) ATTTAA/CAATTC 1 -- us2k10--------
rs748983701,2
C,F--36643509(+) TTAGCC/TGGGTG 1 -- us2k12Minor allele frequency- T:0.12NA EA 240
rs1509349851,2
--36643528(+) TGTTCA/GCGTAA 1 -- us2k10--------
rs72569161,2
H--36643811(+) ttacaG/Tgtgtg 1 -- us2k14Minor allele frequency- T:0.00NS EA 414
rs798196001,2
C--36643894(+) TTCTCC/GCCTGA 1 -- us2k10--------
rs1889238091,2
--36643934(+) CTGACC/TAGCTT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for SDHAF1 (36486090 - 36487220 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for SDHAF1:    About this table     
Variant IDTypeSubtypePubMed ID
nsv911641CNV Loss21882294
dgv51n68CNV Loss17160897
nsv911638CNV Loss21882294


Human Gene Mutation Database (HGMD): SDHAF1
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 612848   
OMIM disorders: 252011  
UniProtKB/Swiss-Prot: SDHF1_HUMAN, A6NFY7
  • Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]: A disorder of the mitochondrial respiratory
    chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants,
    poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive
    leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome
    or Kearns-Sayre syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for SDHAF1:    About MalaCards
    mitochondrial complex ii deficiency    mitochondrial respiratory chain complex ii deficiency, sdhaf1-related    quadriplegia    spastic quadriplegia
    kearns-sayre syndrome    paraganglioma    spasticity

    2 diseases from the University of Copenhagen DISEASES database for SDHAF1:
    Leigh disease     Paraganglioma

    SDHAF1 for disorders           About GeneDecksing


    Export disorders for SDHAF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SDHAF1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SDHAF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. (PubMed id 19465911)1, 2, 3 Ghezzi D.... Zeviani M. (2009)
    2. The role of complex II in disease. (PubMed id 23174333)1 Hoekstra A.S. and Bayley J.P. (2013)
    3. Leukoencephalopathy with accumulated succinate is indi cative of SDHAF1 related complex II deficiency. (PubMed id 22995659)1 Ohlenbusch A....Brockmann K. (2012)
    4. Impact of a polymorphism in the IL-12p40 gene on the outcome of kidney transplantation. (PubMed id 19328947)1 Hoffmann T.W....Baron C. (2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 644096 HGNC: 33867 Ensembl:ENSG00000205138 euGenes: HUgn644096 ECgene: SDHAF1
    H-InvDB: SDHAF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SDHAF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SDHAF1 gene:
    Search GeneIP for patents involving SDHAF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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