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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
 Explore 5 diseases affiliated with
SDHAF1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SDHAF1    

Aliases
for SDHAF1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Succinate Dehydrogenase Complex Assembly Factor 11 2
LYRM81 2
LYR Motif-Containing Protein 82 3
SDH Assembly Factor 12 3
LYR Motif Containing 82
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


Summaries
for SDHAF1 gene

(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:
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)

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)




Genomic Views
for SDHAF1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SDHAF1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SDHAF1

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

Proteins
for SDHAF1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

SDHAF1 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001036096.1  
ENSEMBL proteins: 
 ENSP00000368165  

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Uscn Proteins for SDHAF1

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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Protein Domains /
Families
for SDHAF1 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
SDHAF1 for domains           About GeneDecksing

1 InterPro domain/family:
 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


Function
for SDHAF1 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
Function Summary:

     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)

miRNA
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In Situ Assay
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Pathways & Interactions
for SDHAF1 gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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



Drugs & Compounds
for SDHAF1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

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

Transcripts
for SDHAF1 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, 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)

miRNA
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Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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Clone
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Additional cDNA sequence: 

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

3 DOTS entries:

DT.97797048  DT.95374089  DT.97785795 

GeneLoc Exon Structure


Expression
for SDHAF1 gene

(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
CGAP TAG: AGGAAGGGGT

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene 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: 
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Orthologs
for SDHAF1 gene

(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 2/9 species (see all 9)    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 si:ch211-191j22.46
 si:ch211-191j22.4
 46(a)
 1 ↔ 1
 21(20167186-20170940)


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

Paralogs
for SDHAF1 gene

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

Genomic Variants
for SDHAF1 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/56 NCBI SNPs in SDHAF1 are shown (see all 56)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 19 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs72569161,2
H--32990005(+) ttacaG/Tgtgtg 1 -- us2k14Minor allele frequency- T:0.00NS EA 414
rs177064791,2
C,F,H,--32990662(+) ACGGAG/ACTTCC 1 -- us2k111Minor allele frequency- A:0.08NA EA NS CSA WA 542
rs776947031,2
F,--32990724(+) TCTCTC/ACCAGT 1 -- us2k11Minor allele frequency- A:0.04WA 118
rs48062471,2
C,F,H,--32990761(+) CGAACC/TGGTag 1 -- us2k110Minor allele frequency- T:0.12NS EA NA 624
rs1132058531,2
F,--32990854(+) GGCAAC/TATAGG 1 -- us2k13Minor allele frequency- T:0.09CSA WA 122
rs736077481,2
C,F,--32991077(+) AAAAAA/CCCCCT 1 -- us2k11Minor allele frequency- C:0.06WA 118
rs72500581,2
C,F,--32991223(+) CACGTC/TCCCTA 1 -- us2k17Minor allele frequency- T:0.41NA CSA WA 245
rs1152040841,2
C,F,--32991962(+) AGGGGG/TCCTAG 1 -- ut311Minor allele frequency- T:0.06WA 118
rs124630501,2
C,A,H--32992318(+) AACTTG/TCCCCC 1 -- ut31 ese31Minor allele frequency- T:0.00NA 2
rs79251,2
C,F,O,A,H,--32992428(+) GGGGCA/GACATT 1 -- ut3115Minor allele frequency- G:0.19MN NS EA NA CSA WA 1454

HapMap Linkage Disequilibrium report for SDHAF1 (36486090 - 36487220 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SDHAF1
     1 CNV: 5097
Human Gene Mutation Database (HGMD): SDHAF1

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Disorders / Diseases
for SDHAF1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
SDHAF1 for disorders           About GeneDecksing

OMIM gene information: 612848   
OMIM disorders: 252011  
UniProtKB/Swiss-Prot: SDHF1_HUMAN, A6NFY7
  • Defects in SDHAF1 are a cause of mitochondrial complex II deficiency (MT-C2D) [MIM:252011]; also known as
    • SDH-defective infantile leukoencephalopathy. 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

    5 diseases for SDHAF1:    About MalaCards
    mitochondrial complex ii deficiency    kearns-sayre syndrome    spastic quadriplegia    quadriplegia
    spasticity

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

    Export disorders for SDHAF1 gene to outside databases

    Publications
    for SDHAF1 gene

    (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. 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)
    3. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
    4. 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)
    5. 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)
    6. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    External Searches for SDHAF1 gene

    (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)

    Genome Databases showing SDHAF1 gene

    (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

    Other Databases showing SDHAF1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SDHAF1 gene

    (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

    Intellectual Property
    for SDHAF1 gene

    (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



    Products
    for SDHAF1 gene

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    About This Section

     
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    von Willebrand factor
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