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

SRRD Gene

protein-coding   GIFtS: 44
GCID: GC22P026879

SRR1 Domain Containing

  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
SRR1 Domain Containing1 2
Hepatocellular Carcinoma Complicating Hemochromatosis1 2
SRR1L2 3
SRR1 Domain-Containing Protein2 3
HC/HCC2
SRR1-Like Protein2

External Ids:    HGNC: 339101   Entrez Gene: 4020552   Ensembl: ENSG000001001047   OMIM: 6022545   UniProtKB: Q9UH363   

Export aliases for SRRD gene to outside databases

Previous GC identifers: GC22P025209 GC22P009827


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

GeneCards Summary for SRRD Gene: 
SRRD (SRR1 domain containing) is a protein-coding gene. Diseases associated with SRRD include hemochromatosis, and hepatocellular carcinoma.

UniProtKB/Swiss-Prot: SRR1L_HUMAN, Q9UH36
Function: May be involved in a circadian clock input pathway (By similarity)




(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_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SRRD gene promoter:
         AhR   GR   Pax-5   GR-beta   MyoD   Arnt   Pax-3   STAT3   c-Myb   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRRD promoter sequence
   Search SABiosciences Chromatin IP Primers for SRRD

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


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

Entrez Gene cytogenetic band: 22q12.1   Ensembl cytogenetic band:  22q12.1   HGNC cytogenetic band: 22q12.1

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P026879:  view genomic region     (about GC identifiers)

Start:
26,879,843 bp from pter      End:
26,887,904 bp from pter
Size:
8,062 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: SRR1L_HUMAN, Q9UH36 (See protein sequence)
Recommended Name: SRR1-like protein  
Size: 339 amino acids; 38573 Da
Secondary accessions: Q6NXP8

Explore the universe of human proteins at neXtProt for SRRD: NX_Q9UH36

Explore proteomics data for SRRD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UH36

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

    SRRD Protein Expression
    REFSEQ proteins: NP_001013716.2  
    ENSEMBL proteins: 
     ENSP00000215917  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR012942 SRR1-like

    Graphical View of Domain Structure for InterPro Entry Q9UH36

    ProtoNet protein and cluster: Q9UH36

    1 Blocks protein domain: IPB012942 SRR1

    UniProtKB/Swiss-Prot: SRR1L_HUMAN, Q9UH36
    Similarity: Belongs to the SRR1 family


    SRRD 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: SRR1L_HUMAN, Q9UH36
    Function: May be involved in a circadian clock input pathway (By similarity)

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SRRD 
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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



    Interactions:

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

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0048511rhythmic process IEA--

    SRRD 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SRRD (SRR1L)

    Search CenterWatch for drugs/clinical trials and news about SRRD / SRR1L

    (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 SRRD gene: 
    NM_001013694.2  

    Unigene Cluster for SRRD:

    SRR1 domain containing
    Hs.709914  [show with all ESTs]
    Unigene Representative Sequence: AK293916
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215917(uc003acp.4 uc010gve.3) ENST00000477945 ENST00000471799

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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SRRD

    Additional mRNA sequence: 

    AK293916.1 BC066962.1 

    13 DOTS entries:

    DT.92440640  DT.95270594  DT.87016562  DT.100774480  DT.100685466  DT.75107180  DT.92440647  DT.101970424 
    DT.92440646  DT.92440648  DT.100653717  DT.101968225  DT.92063085 

    24/164 AceView cDNA sequences (see all 164):

    BF589567 BM905655 AW593136 CR624414 AA702583 AI202854 AA454574 AA676626 
    BX363637 BQ436142 BQ187092 CR608203 BQ187580 AA834380 AI081958 BQ185899 
    CR616290 BQ184483 AA485750 BG231758 CR616197 AA831854 AI288179 BM547862 

    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

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


    SRRD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesonephric cells Mesonephros
             Mesonephros
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             umbilical cord reticulocytes   
     
     Umbilical Cord (Extraembryonic Tissues)
             umbilical cord reticulocytes   
     
     Gonad
             Mesonephric cells Mesonephros
     
     Testis (Reproductive System)

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

    SOURCE GeneReport for Unigene cluster: Hs.709914
        SABiosciences Custom PCR Arrays for SRRD
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRRD

    (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 animals.

    Orthologs for SRRD gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srrd1 , 5 SRR1 domain containing1, 5 74.68(n)1
    71.31(a)1
      5 (54.69 cM)5
    701181  NM_027323.21  NP_081599.21 
     1123373925 
    chicken
    (Gallus gallus)
    Aves SRRD1 SRR1 domain containing 62.09(n)
    58.43(a)
      416908  NM_001201445.1  NP_001188374.1 
    zebrafish
    (Danio rerio)
    Actinopterygii srrd1 SRR1 domain containing 54.18(n)
    44.57(a)
      751717  NM_001045427.1  NP_001038892.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG79881 CG7988 42.33(n)
    29.2(a)
      42180  NM_142434.3  NP_650691.1 


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

    10/143 SNPs in SRRD are shown (see all 143)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1891356291,2
    --26881994(+) GAAGGA/TCCTGT 2 D V mis10--------
    rs2016128361,2
    --26882017(+) TCTGGA/GGTTCA 2 S G mis10--------
    rs2006477341,2
    C--26882048(+) GGCCAA/GTGGTA 1 -- int11Minor allele frequency- G:0.00EU 1201
    rs1808711661,2
    --26882115(+) GAGGGA/GTAACT 1 -- int10--------
    rs57615611,2
    C,F,A,H--26882142(+) CGCCCG/ACCCCT 1 -- int124Minor allele frequency- A:0.41NS EA NA WA CSA 2354
    rs1177490531,2
    C,F--26882177(+) TAATTC/TTGATC 1 -- int11Minor allele frequency- T:0.01NA 120
    rs1179235891,2
    C,F--26882286(+) AATAAA/GTGTTG 1 -- int11Minor allele frequency- G:0.02NA 120
    rs1852248321,2
    --26882402(+) GGTGGC/TGACAT 1 -- int10--------
    rs1472602851,2
    C--26882446(+) ATCATG/TTTTAT 1 -- int10--------
    rs1881410571,2
    --26882589(+) CCTCCC/TACCTA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SRRD (26879843 - 26887904 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SRRD:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7350OTHER Inversion18451855

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SRRD

    (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: 602254    OMIM disorders: --

    2 diseases for SRRD:    About MalaCards
    hemochromatosis    hepatocellular carcinoma


    SRRD for disorders           About GeneDecksing


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

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    3. Epigenetic modifications of SOX2 enhancers, SRR1 and SRR2, correlate with in vitro neural differentiation. (PubMed id 18293417)1 Sikorska M....Walker P.R. (2008)
    4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. 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)
    7. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
    8. Molecular cloning of a novel mRNA highly expressed in haemochromatotic human liver and proliferating cells. (PubMed id 8806657)1 Kedar V.... Powell L. (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: 402055 HGNC: 33910 AceView: LOC402055 Ensembl:ENSG00000100104 euGenes: HUgn402055
    ECgene: SRRD H-InvDB: SRRD

    (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 SRRD 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 SRRD gene:
    Search GeneIP for patents involving SRRD

    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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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