Harmonizome 3.0

gem (nuclear organelle) associated protein 8 pseudogene 2

gem (nuclear organelle) associated protein 7 pseudogene

gem (nuclear organelle) associated protein 7

The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear `gems` (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

gem (nuclear organelle) associated protein 8

The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

gem (nuclear organelle) associated protein 2

This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]

gem (nuclear organelle) associated protein 6

GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]

gem (nuclear organelle) associated protein 4

The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

gem (nuclear organelle) associated protein 5

This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

gem (nuclear organelle) associated protein 8 pseudogene 4

gem (nuclear organelle) associated protein 8 pseudogene 3

gem (nuclear organelle) associated protein 8 pseudogene 1

gem (nuclear organelle) associated protein 2 pseudogene 2

gem (nuclear organelle) associated protein 2 pseudogene 1

CTD nuclear envelope phosphatase 1 pseudogene

nurim (nuclear envelope membrane protein)

The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

spectrin repeat containing, nuclear envelope 1

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

spectrin repeat containing, nuclear envelope 2

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

spectrin repeat containing, nuclear envelope family member 3

Enables actin filament binding activity and cytoskeleton-nuclear membrane anchor activity. Involved in cytoskeleton organization; establishment of protein localization to membrane; and regulation of cell shape. Located in nuclear membrane. Part of meiotic nuclear membrane microtubule tethering complex. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

spectrin repeat containing, nuclear envelope family member 4

This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

late cornified envelope 5A

Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 6A

Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 2C

Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 2B

This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. [provided by RefSeq, Jul 2008]

late cornified envelope 2A

Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 2D

Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

CTD nuclear envelope phosphatase 1

Enables protein serine/threonine phosphatase activity. Involved in several processes, including positive regulation of triglyceride biosynthetic process; protein dephosphorylation; and protein localization to nucleus. Located in endoplasmic reticulum membrane; lipid droplet; and nuclear membrane. Part of Nem1-Spo7 phosphatase complex. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 4A

Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

late envelope protein 7

late cornified envelope pseudogene 4

late cornified envelope pseudogene 1

late cornified envelope pseudogene 3

late cornified envelope pseudogene 2

late cornified envelope 1F

Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 1D

Enables identical protein binding activity. Involved in cognition. Acts upstream of or within cellular response to calcium ion. Located in cornified envelope and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 1E

Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 1B

Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 1C

Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 1A

LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM, Feb 2009]

CTD nuclear envelope phosphatase 1 pseudogene

late cornified envelope-like proline-rich 1

late cornified envelope 3D

Predicted to be involved in keratinization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 3E

Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 3A

Involved in defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; and killing of cells of another organism. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 3B

Involved in defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; and killing of cells of another organism. [provided by Alliance of Genome Resources, Mar 2025]

late cornified envelope 3C

Involved in defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; and killing of cells of another organism. [provided by Alliance of Genome Resources, Mar 2025]

CTD nuclear envelope phosphatase 1 regulatory subunit 1

This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

nuclear envelope integral membrane protein 1

Involved in nuclear membrane organization. Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]

nuclear envelope integral membrane protein 2

Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]

loricrin cornified envelope precursor protein

This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]

late cornified envelope 7A

Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Mar 2025]