{ "bcoid": "GLY_000021", "title": "Human Protein Information (NCBI RefSeq)", "description": "The Human Protein Information (NCBI RefSeq) dataset contains human [taxid:9606] protein information such ...", "filename": "human_protein_info_refseq.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Protein Information", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "Q9H7M6-1...", "NP_075560.2..." ], [ "Q9BZA8-1...", "NP_001265548..." ] ], "headers": [ "uniprotkb_ca...", "p_refseq_ac_..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "p_refseq_ac_best_match" }, { "type": "string", "label": "refseq_protein_name" }, { "type": "string", "label": "refseq_protein_length" }, { "type": "string", "label": "refseq_protein_summary" } ], [ "Q9H7M6-1", "NP_075560.2", "zinc finger SWIM domain-containing protein 4 isoform 1", "989", "" ], [ "Q9BZA8-1", "NP_001265548.1", "protocadherin-11 Y-linked isoform a", "1037", "This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. " ], [ "P0CJ69-1", "NP_001177399.1", "humanin-like 2", "28", "" ], [ "Q0VDE8-1", "NP_001018092.1", "adipogenin", "80", "ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008]. " ], [ "Q96RJ0-1", "NP_612200.1", "trace amine-associated receptor 1", "339", "The protein encoded by this gene is a G-protein coupled receptor activated by trace amines. The encoded protein responds little or not at all to dopamine, serotonin, epinephrine, or histamine, but responds well to beta-phenylethylamine, p-tyramine, octopamine, and tryptamine. While primarily functioning in neurologic systems, there is evidence that this gene is involved in blood cell and immunologic functions as well. This gene is thought to be intronless. [provided by RefSeq, Nov 2015]. " ], [ "A2RUR9-1", "NP_055510.1", "coiled-coil domain-containing protein 144A isoform a", "1427", "" ], [ "P01569-1", "NP_002160.1", "interferon alpha-5 precursor", "189", "" ], [ "Q5TYW2-1", "NP_115626.2", "ankyrin repeat domain-containing protein 20A1", "823", "" ], [ "A0A1B0GWH4-1", "NP_001310008.1", "heat shock transcription factor, X-linked member 3", "333", "" ], [ "Q8TDG2-1", "NP_612146.1", "actin-related protein T1", "376", "This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010]. " ], [ "Q9C0G0-1", "NP_001139661.1", "zinc finger protein 407 isoform 2", "1815", "This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. " ], [ "Q8NGE0-1", "NP_001004134.1", "olfactory receptor 10AD1", "317", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "Q6ZUA9-1", "NP_997297.2", "maestro heat-like repeat family member 5", "1318", "" ], [ "Q9UEU5-1", "NP_001091877.1", "G antigen 2D", "116", "" ], [ "P0DKV0-1", "NP_001138596.1", "putative spermatogenesis-associated protein 31C1", "1188", "" ], [ "Q8NG84-1", "NP_001004491.1", "olfactory receptor 2AK2", "335", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "Q6IF42-1", "NP_001005480.2", "olfactory receptor 2A2", "318", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "P13762-1", "NP_068818.4", "major histocompatibility complex, class II, DR beta 4 precursor", "266", "HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]. " ], [ "E2RYF6-1", "NP_001185744.1", "mucin-22 isoform 2 precursor", "1773", "" ], [ "P0C7M7-1", "NP_001073923.1", "acyl-coenzyme A synthetase ACSM4, mitochondrial precursor", "580", "" ], [ "Q9BYQ8-1", "NP_001139513.1", "keratin-associated protein 4-9", "210", "" ], [ "Q96EP1-1", "NP_001154816.1", "E3 ubiquitin-protein ligase CHFR isoform 1", "664", "This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]. " ], [ "A6NDE8-1", "NP_001091880.1", "G antigen 12H", "117", "" ], [ "Q96RL6-1", "NP_001128635.1", "sialic acid-binding Ig-like lectin 11 isoform 2 precursor", "602", "This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. " ], [ "Q9H1B4-1", "NP_116564.2", "nuclear RNA export factor 5", "365", "This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq, Jul 2009]. " ], [ "C9JDP6-1", "NP_001094859.1", "putative claudin-25", "229", "This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010]. " ], [ "P0CB33-1", "NP_001152996.1", "putative zinc finger protein 735", "412", "This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and nine C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]. " ], [ "Q8NG94-1", "NP_001005239.1", "olfactory receptor 11H1", "326", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "O15263-1", "NP_001192195.1", "beta-defensin 4B precursor", "64", "Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Oct 2014]. " ], [ "Q86Y28-1", "NP_859055.1", "B melanoma antigen 4 precursor", "39", "" ], [ "Q8NH74-1", "NP_001004461.1", "olfactory receptor 10A6", "314", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]. " ], [ "Q86VE3-1", "NP_001012998.2", "spermidine/spermine N(1)-acetyltransferase-like protein 1 isoform 3", "632", "" ], [ "P0CF75-1", "NP_001186867.1", "endogenous Bornavirus-like nucleoprotein 1", "366", "" ], [ "O43812-1", "NP_036278.1", "double homeobox protein 1", "170", "The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX1, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008]. " ], [ "Q8NGN2-1", "NP_001004474.1", "olfactory receptor 10S1", "331", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "Q8NG92-1", "NP_001004486.1", "olfactory receptor 13H1", "308", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "A0A1B0GTR3-1", "NP_001137536.1", "uncharacterized protein LOC100129239", "108", "" ], [ "B4DYI2-1", "NP_001159609.1", "putative spermatogenesis-associated protein 31C2 isoform 2", "1134", "" ], [ "A8MUX0-1", "NP_001139654.1", "keratin-associated protein 16-1", "517", "" ], [ "Q9BZ19-1", "NP_001291298.1", "ankyrin repeat domain-containing protein 60", "345", "" ], [ "Q9HB31-1", "NP_001074306.3", "homeobox protein SEBOX", "190", "Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008]. " ], [ "Q2M2D7-1", "NP_001034486.2", "TBC1 domain family member 28", "210", "" ], [ "Q96S07-1", "NP_001013660.1", "proline-rich protein 25", "402", "" ], [ "A6NNM3-1", "NP_001122107.1", "RIMS-binding protein 3B", "1639", "" ], [ "O14804-1", "NP_003958.2", "trace amine-associated receptor 5", "337", "" ], [ "O43869-1", "NP_112166.1", "olfactory receptor 2T1", "369", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "Q96A99-1", "NP_001013680.1", "pentraxin-4 isoform 2", "473", "This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]. " ], [ "Q6ZNI0-1", "NP_542182.1", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7", "430", "" ], [ "Q9Y3N9-1", "NP_112165.1", "olfactory receptor 2W1", "320", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "Q17R55-1", "NP_689694.1", "protein FAM187B precursor", "369", "" ], [ "Q8NGQ2-1", "NP_001005186.2", "olfactory receptor 6Q1", "317", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]. " ], [ "Q5VWM4-1", "NP_001012276.2", "PRAME family member 8", "474", "" ], [ "P0C7X5-1", "NP_001291378.1", "zinc finger protein 806 isoform 1", "589", "" ], [ "Q8NGL7-1", "NP_001004124.1", "olfactory receptor 4P4", "312", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "P0DM63-1", "NP_001269436.1", "nuclear pore complex-interacting protein family member A7", "369", "" ], [ "P0CV99-1", "NP_001157943.1", "testis-specific Y-encoded protein 4", "314", "" ], [ "Q5VXH5-1", "NP_001012277.2", "PRAME family member 7", "474", "" ], [ "Q9UND3-1", "NP_001264253.1", "nuclear pore complex-interacting protein family member A2", "350", "" ], [ "A6NFU8-1", "NP_001096082.2", "pyroglutamyl-peptidase 1-like protein isoform 1", "196", "" ], [ "F8WFD2-1", "NP_001264252.1", "nuclear pore complex-interacting protein family member A3", "350", "" ], [ "Q9ULZ0-2", "NP_001093157.1", "TP53-target gene 3 protein", "124", "" ], [ "P0C7X1-1", "NP_001116864.3", "TBC1 domain family member 3H", "549", "" ], [ "P0C5Y4-1", "NP_001244234.1", "keratin-associated protein 1-4", "121", "The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009]. " ], [ "Q4V321-1", "NP_001091882.2", "G antigen 13", "117", "" ], [ "A0A087WXS9-1", "NP_001278392.1", "TBC1 domain family member 3I", "549", "" ], [ "A6NEH6-1", "NP_001138523.1", "transmembrane protein 247", "219", "" ], [ "Q8NG97-1", "NP_001004699.1", "olfactory receptor 2Z1", "314", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "A6NJU9-1", "NP_001308821.1", "nuclear pore complex-interacting protein family member B13", "1138", "" ], [ "Q9BYP9-1", "NP_001305156.1", "keratin-associated protein 9-9 isoform KRTAP9.9", "174", "This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. Alternative haplotypes of this gene are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Dec 2015]. " ], [ "A6NIJ9-1", "NP_001005499.1", "olfactory receptor 6C70", "312", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "P81277-1", "NP_056977.1", "prolactin-releasing peptide precursor", "87", "" ], [ "O76000-1", "NP_001005226.1", "putative olfactory receptor 2B3", "313", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. " ], [ "Q30KQ7-1", "NP_001032818.1", "beta-defensin 113 precursor", "82", "Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]. " ], [ "Q30KP8-1", "NP_001028190.2", "beta-defensin 136 precursor", "78", "Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]. " ], [ "Q9UI17-1", "NP_037523.2", "dimethylglycine dehydrogenase, mitochondrial precursor", "866", "This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. " ], [ "A6NNF4-1", "NP_001230967.1", "zinc finger protein 726 isoform 1", "616", "" ], [ "Q3LI81-1", "NP_001071179.1", "keratin-associated protein 27-1", "207", "" ], [ "P60413-1", "NP_941972.1", "keratin-associated protein 10-12", "245", "" ], [ "Q6ZRP0-1", "NP_001128129.1", "proline-rich protein 23C", "262", "" ], [ "Q6UQ28-1", "NP_001138496.1", "placenta-expressed transcript 1 protein precursor", "207", "" ], [ "A6NP11-1", "NP_001152751.1", "zinc finger protein 716", "495", "" ], [ "O60811-1", "NP_075390.1", "PRAME family member 2", "474", "" ], [ "A6NDL8-1", "NP_001005519.2", "olfactory receptor 6C68", "312", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a seven-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2014]. " ], [ "Q9NQN1-1", "NP_063950.2", "olfactory receptor 2S2", "319", "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]. " ] ] }, "readme": "Name\n - Human Protein Information (NCBI RefSeq)\n\nVersion\n - 1.8.24\n\nCreated on\n - 2019-01-23T17:21:05.888176\n\nModified on\n - 2020-04-10T11:25:40.102630\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Xavier Holmes [xavierh@email.gwu.edu]\n\nAuthors\n - \n\nChecksum\n - \n\nUsability Domain\n - The Human Protein Information (NCBI RefSeq) dataset contains human [taxid:9606] protein information such as protein accession, name, length and protein function summary from NCBI RefSeq database. The dataset is derived from NCBI RefSeq Release 96, September 9, 2019. If you use this dataset please provide proper attribution to NCBI RefSeq and GlyGen\n\nDescription Domain\n Keywords\n - protein information\n - protein length\n - NCBI RefSeq\n - protein summary\n\n Pipeline Steps\n - Step-1: The script parses the NCBI RefSeq gpff files to extract the accession, length, protein summary and then maps the NCBI RefSeq accesion to the UniProtKB Canonical accessions\n\nExecution Domain\n Scripts - https://github.com/GW-HIVE/glygen-backend-integration/blob/master/pipeline/integrator/make-protein-dataset.py\n\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: refseq_protein_all_9606.gpff\n URI: https://data.glygen.org/ln2data/releases/data/v-1.8.24/source/refseq_protein_all_9606.gpff\n Name: human_protein_info_refseq.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.8.24/reviewed/human_protein_info_refseq.csv\n Output Subdomain\n Name: human_protein_info_refseq.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.8.24/reviewed/human_protein_info_refseq.csv\n Name: human_protein_info_refseq.stat.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.8.24/reviewed/human_protein_info_refseq.stat.csv\n\nFields\n Name: \"src_xref_key\"\n Description: \"Source Xref key\"\n Unique Values: \"1\"\n Name: \"xref_id\"\n Description: \"ID of the X-ref\"\n Unique Values: \"119\"\n Name: \"title\"\n Description: \"Title of the published article in the journal\"\n Unique Values: \"119\"\n Name: \"src_xref_id\"\n Description: \"Source X-ref ID\"\n Unique Values: \"120\"\n Name: \"journal_name\"\n Description: \"The name of the journal in which the article is published\"\n Unique Values: \"49\"\n Name: \"authors\"\n Description: \"NA\"\n Unique Values: \"118\"\n Name: \"publication_date\"\n Description: \"Contains the full date on which the issue of the journal was published. Sourced from MEDLINE/PubMed data element(fields) description.\"\n Unique Values: \"117\"\n Name: \"glytoucan_ac\"\n Description: \"Unique accession assigned to the registered glycan structure in GlyTouCan database\"\n Unique Values: \"115\"\n Name: \"xref_key\"\n Description: \"Source key associated to the xref_id\"\n Unique Values: \"1\"", "downloadurl": "/ln2data/releases/data/v-1.8.24/reviewed/human_protein_info_refseq.csv" }