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SRRD Gene

protein-coding   GIFtS: 41
GCID: GC22P026879

SRR1 Domain Containing

  See SRRD-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for SRRD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
26,890,624 bp from pter
Size:
10,782 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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


See SRRD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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)
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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


Find genes that share domains with SRRD           About GenesLikeMe


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

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

Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion3
cytosol2
peroxisome2
endoplasmic reticulum1
nucleus1

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SRRD
Interactions:

    Search GeneGlobe Interaction Network for SRRD

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for SRRD (ENSP000002159174) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ZC3H14ENSP000002510384STRING: ENSP00000251038
About this table

Gene Ontology (GO): 1 biological process term:    About this table

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

Find genes that share ontologies with SRRD           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for SRRD gene: 
NM_001013694.2  

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000215917(uc003acp.4 uc010gve.3) ENST00000477945 ENST00000471799

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Selected AceView cDNA sequences (see all 164):

BQ185899 BX363637 AA831854 CA422182 CR624414 AW593136 CR599541 BQ184483 
BG231758 AA834380 AI081958 BQ189353 BQ436142 AA702583 AI202854 BX346501 
BF589567 CR608203 AI288179 BM905655 AA454574 AA676626 AW303248 CR616290 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SRRD expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 3) fully expand
 
 Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
         Mesonephric cells Mesonephros
         Mesonephros
 
 Gonad
         Mesonephric cells Mesonephros
 
 Testis (Reproductive System)
SRRD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SRRD Protein Expression
    Custom PCR Arrays for SRRD
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In Situ
Assay Products:
 

 
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(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)
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This gene was present in the common ancestor of animals.

Orthologs for SRRD gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Srrd1 , 5 SRR1 domain containing1, 5 74.39(n)1
71.36(a)1
  5 (54.69 cM)5
701181  NM_027323.21  NP_081599.21 
 1123373925 
chicken
(Gallus gallus)
Aves SRRD1 SRR1 domain containing 62.9(n)
59.27(a)
  416908  NM_001201445.1  NP_001188374.1 
tropical clawed frog
(Xenopus tropicalis)
Amphibia srrd1 SRR1 domain containing 55.75(n)
48.04(a)
  100494372  XM_002932073.2  XP_002932119.1 
zebrafish
(Danio rerio)
Actinopterygii srrd1 SRR1 domain containing 58.08(n)
51.55(a)
  751717  NM_001045427.1  NP_001038892.1 
fruit fly
(Drosophila melanogaster)
Insecta CG79881 CG7988 42.48(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)
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  --

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SRRD (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 - 26890624 bp)

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

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing SRRD
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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602254    OMIM disorders: --

2 diseases for SRRD:    
About MalaCards
hemochromatosis    hepatocellular carcinoma


Find genes that share disorders with SRRD           About GenesLikeMe


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)
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PubMed articles for SRRD gene integrated from 10 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. (Genome Res. 2004)
  2. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 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. (J. Neurosci. Res. 2008)
  4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 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. (Biochem. Biophys. Res. Commun. 1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 402055 HGNC: 33910 AceView: LOC402055 Ensembl:ENSG00000100104 euGenes: HUgn402055
ECgene: SRRD H-InvDB: SRRD

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 SwitchGear 3'UTR luciferase reporter plasmids for SRRD
 SwitchGear Promoter luciferase reporter plasmids for SRRD
 Search ThermoFisher Antibodies for SRRD
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SRRD
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SRRD
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SRRD
 LSBio Antibodies in human, mouse, rat for SRRD
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
 Search Addgene for plasmids for SRRD
  Search eBioscience for proteins for SRRD
  Search eBioscience for elisas for SRRD
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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