We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
5
Cytoband
p13.2
Chromosome location (bp)
36876769 - 37066413
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin 1,2. Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner 3. Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000070[mitotic sister chromatid segregation] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0001656[metanephros development] GO:0003007[heart morphogenesis] GO:0003151[outflow tract morphogenesis] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0007064[mitotic sister chromatid cohesion] GO:0007420[brain development] GO:0007507[heart development] GO:0007605[sensory perception of sound] GO:0008022[protein C-terminus binding] GO:0008104[protein localization] GO:0009790[embryo development] GO:0010468[regulation of gene expression] GO:0031065[positive regulation of histone deacetylation] GO:0032039[integrator complex] GO:0032116[SMC loading complex] GO:0034087[establishment of mitotic sister chromatid cohesion] GO:0034088[maintenance of mitotic sister chromatid cohesion] GO:0035019[somatic stem cell population maintenance] GO:0035115[embryonic forelimb morphogenesis] GO:0035136[forelimb morphogenesis] GO:0035261[external genitalia morphogenesis] GO:0036033[mediator complex binding] GO:0040018[] GO:0042471[ear morphogenesis] GO:0042634[regulation of hair cycle] GO:0042826[histone deacetylase binding] GO:0043231[intracellular membrane-bounded organelle] GO:0045444[fat cell differentiation] GO:0045778[positive regulation of ossification] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045995[regulation of embryonic development] GO:0047485[protein N-terminus binding] GO:0048557[embryonic digestive tract morphogenesis] GO:0048565[digestive tract development] GO:0048589[developmental growth] GO:0048592[eye morphogenesis] GO:0048638[regulation of developmental growth] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048703[embryonic viscerocranium morphogenesis] GO:0050890[cognition] GO:0060325[face morphogenesis] GO:0061010[gall bladder development] GO:0061038[uterus morphogenesis] GO:0061775[cohesin loading activity] GO:0061780[mitotic cohesin loading] GO:0070062[extracellular exosome] GO:0070087[chromo shadow domain binding] GO:0071169[establishment of protein localization to chromatin] GO:0071481[cellular response to X-ray] GO:0090694[Scc2-Scc4 cohesin loading complex] GO:1990414[replication-born double-strand break repair via sister chromatid exchange] GO:1990841[promoter-specific chromatin binding] GO:2001224[positive regulation of neuron migration]
SCAMPI predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001656[metanephros development] GO:0003007[heart morphogenesis] GO:0003151[outflow tract morphogenesis] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005829[cytosol] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0007064[mitotic sister chromatid cohesion] GO:0007420[brain development] GO:0007605[sensory perception of sound] GO:0008022[protein C-terminus binding] GO:0008104[protein localization] GO:0009790[embryo development] GO:0010468[regulation of gene expression] GO:0031065[positive regulation of histone deacetylation] GO:0032039[integrator complex] GO:0032116[SMC loading complex] GO:0034087[establishment of mitotic sister chromatid cohesion] GO:0034088[maintenance of mitotic sister chromatid cohesion] GO:0035115[embryonic forelimb morphogenesis] GO:0035136[forelimb morphogenesis] GO:0035261[external genitalia morphogenesis] GO:0042471[ear morphogenesis] GO:0042634[regulation of hair cycle] GO:0042826[histone deacetylase binding] GO:0043231[intracellular membrane-bounded organelle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045995[regulation of embryonic development] GO:0047485[protein N-terminus binding] GO:0048557[embryonic digestive tract morphogenesis] GO:0048565[digestive tract development] GO:0048589[developmental growth] GO:0048592[eye morphogenesis] GO:0048638[regulation of developmental growth] GO:0048703[embryonic viscerocranium morphogenesis] GO:0050890[cognition] GO:0060325[face morphogenesis] GO:0061010[gall bladder development] GO:0061038[uterus morphogenesis] GO:0061775[cohesin loading activity] GO:0061780[mitotic cohesin loading] GO:0070062[extracellular exosome] GO:0070087[chromo shadow domain binding] GO:0071169[establishment of protein localization to chromatin] GO:0071481[cellular response to X-ray] GO:0090694[Scc2-Scc4 cohesin loading complex] GO:1990414[replication-born double-strand break repair via sister chromatid exchange] GO:1990841[promoter-specific chromatin binding] GO:2001224[positive regulation of neuron migration]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
