Major histocompatibility complex class I gene family
MHC class I molecules are heterodimers, consisting of a single transmembrane polypeptide chain (the -chain) and a 2 microglobulin (which is encoded elsewhere, not in the MHC).  The  chain has three polymorphic domains, 1, 2, 3. Between 1 and 2 is the peptide-binding groove which binds peptides derived from cytosolic proteins. The groove consists of eight -pleated sheets on the bottom and two  helices making up sides.
The peptide in the groove remains bound for the life of the class I molecule, and is typically 8-9 amino acids in length.

# Major histocompatibility complex class I genes
Gene ID: 563 is AZGP1 alpha-2-glycoprotein 1, zinc-binding, on 7q22.1.
- NP_001176.1 zinc-alpha-2-glycoprotein precursor: "IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain"
Gene ID: 567 is B2M beta-2-microglobulin aka beta chain of MHC class I molecules on 15q21.1: "This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia."
- NP_004039.1  beta-2-microglobulin precursor: "cd05770 Location:24  116 IgC_beta2m; Class I major histocompatibility complex (MHC) beta2-microglobulin"
Gene ID: 696 is BTN1A1 butyrophilin subfamily 1 member A1 on 6p22.2: "Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families."
Gene ID: 821 is CANX calnexin aka major histocompatibility complex class I antigen-binding protein p88 on 5q35.3: "This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding different isoforms have been described."
- NP_001019820.1 calnexin isoform d precursor.
- NP_001350922.1 calnexin isoform a: "Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (a)."
- NP_001350923.1 calnexin isoform b.
- NP_001350924.1 calnexin isoform c precursor.
- NP_001350925.1 calnexin isoform d precursor.
- NP_001350926.1 calnexin isoform d precursor.
- NP_001350927.1 calnexin isoform e precursor.
- NP_001350928.1 calnexin isoform f precursor.
- NP_001350929.1 calnexin isoform g.
- NP_001350930.1 calnexin isoform g.
- NP_001737.1 calnexin isoform d precursor.
- NR_157048.1 RNA Sequence.
Gene ID: 909 is CD1A CD1a molecule on 1q23.1: "This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternative splicing results in multiple transcript variants."
- NP_001307581.1 T-cell surface glycoprotein CD1a isoform 2: "Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1."
- NP_001754.2 T-cell surface glycoprotein CD1a isoform 1 precursor: "Transcript Variant: This variant (1) encodes the longer isoform (1)."
Gene ID: 910 is CD1B CD1b molecule on 1q23.1: "This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens."
- NP_001755.1 T-cell surface glycoprotein CD1b precursor.
Gene ID: 911 is CD1C CD1c molecule on 1q23.1: "This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known."
- NP_001756.2 T-cell surface glycoprotein CD1c precursor.
Gene ID: 912 is CD1D CD1d molecule aka HMC class I antigen-like glycoprotein CD1D on 1q23.1: "This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. Two transcript variants encoding different isoforms have been found for this gene."
- NP_001306074.1 antigen-presenting glycoprotein CD1d isoform 2 precursor: "Transcript Variant: This variant (2) lacks an alternate in-frame exon and has a shorter 3' UTR compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1."
- NP_001358690.1 antigen-presenting glycoprotein CD1d isoform 3 .
- NP_001358691.1 antigen-presenting glycoprotein CD1d isoform 1 .
- NP_001358692.1 antigen-presenting glycoprotein CD1d isoform 1 .
- NP_001757.1 antigen-presenting glycoprotein CD1d isoform 1 precursor: "Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)."
Gene ID: 913 is CD1E CD1e molecule on 1q23.1: "This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined."
- NP_001036048.1 T-cell surface glycoprotein CD1e, membrane-associated isoform b precursor: "Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform b, also known as 2)."
- NP_001036049.1 T-cell surface glycoprotein CD1e, membrane-associated isoform c precursor: "Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes an isoform (c, also known as 3), which has a shorter and distinct C-terminus compared to isoform a."
- NP_001036050.1 T-cell surface glycoprotein CD1e, membrane-associated isoform d precursor: "Transcript Variant: This variant (4) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform d, also known as 4), compared to isoform a."
- NP_001036051.1 T-cell surface glycoprotein CD1e, membrane-associated isoform e precursor: "Transcript Variant: This variant (5) is missing two coding exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform e, also known as 9) compared to isoform a."
- NP_001036052.1 T-cell surface glycoprotein CD1e, membrane-associated isoform f precursor: "Transcript Variant: This variant (6) is missing two coding exons and uses an alternate splice site in the 3' coding region, which results in a translational frameshift, compared to variant 1. It encodes a protein (isoform f, also known as 10) that is shorter and has a distinct C-terminus compared to isoform a."
Gene ID: 2217 is FCGRT Fc fragment of IgG receptor and transporter aka major histocompatibility complex class I-like Fc receptor on 19q13.33: "This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants."
- NP_001129491.1 IgG receptor FcRn large subunit p51 precursor: "Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein."
- NP_004098.1 IgG receptor FcRn large subunit p51 precursor: "Transcript Variant: This variant (2) has an alternate 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein."
Gene ID: 2794 is GNL1 G protein nucleolar 1 (putative) on 6p21.33: "The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C."
Gene ID: 3077 is HFE homeostatic iron regulator on 6p22.2: "The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined."
- NP_000401.1 hereditary hemochromatosis protein isoform 1 precursor: "Transcript Variant: This variant (1) encodes the longest isoform."
- NP_001287678.1 hereditary hemochromatosis protein isoform 12 precursor: "Transcript Variant: This variant (12) uses an alternate splice acceptor site at its 3'-terminal exon, compared to variant 1. This variant encodes isoform 12 which has a shorter and distinct C-terminus, compared to isoform 1."
- NP_620572.1 hereditary hemochromatosis protein isoform 3 precursor: "Transcript Variant: This variant (3) lacks an internal in-frame segment of the coding region, as compared to variant 1, resulting in a shorter protein (isoform 3)."
- NP_620573.1 hereditary hemochromatosis protein isoform 4 precursor: "Transcript Variant: This variant (4) lacks an internal in-frame segment of the coding region, compared to variant 1, resulting in a shorter protein (isoform 4)."
- NP_620575.1 hereditary hemochromatosis protein isoform 6 precursor: "Transcript Variant: This variant (6) lacks an internal in-frame segment of the coding region, as compared to variant 1, resulting in a shorter protein (isoform 6)."
- NP_620576.1 hereditary hemochromatosis protein isoform 7 precursor: "Transcript Variant: This variant (7) lacks an internal in-frame segment of the coding region, as compared to variant 1, resulting in a shorter protein isoform (7)."
- NP_620577.1 hereditary hemochromatosis protein isoform 8 precursor: "Transcript Variant: This variant (8) lacks two internal in-frame segments of the coding region, as compared to variant 1, resulting in a shorter protein (isoform 8)."
- NP_620578.1 hereditary hemochromatosis protein isoform 9 precursor: "Transcript Variant: This variant (9) lacks an internal in-frame segment of the coding region through the use of an alternate splice acceptor site, as compared to variant 1, resulting in a shorter protein (isoform 9)."
- NP_620579.1 hereditary hemochromatosis protein isoform 10 precursor: "Transcript Variant: This variant (10) lacks an internal in-frame segment of the coding region, as compared to variant 1, resulting in a shorter protein (isoform 10)."
- NP_620580.1 hereditary hemochromatosis protein isoform 11 precursor: "Transcript Variant: This variant (11) lacks a large internal part of the coding region but the reading frame is maintained, as compared to variant 1. The protein encoded is the shortest isoform (11)."
Gene ID: 3105 is HLA-A major histocompatibility complex, class I, A, on 6p22.1: "HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described."
- NP_001229687.1 HLA class I histocompatibility antigen, A alpha chain A*01:01:01:01 precursor: "Transcript Variant: This variant (2) represents the A*01:01:01:01 allele of the HLA-A gene, as found in the alternate locus group ALT_REF_LOCI_2 of the reference genome and in the RefSeqGene NG_029217."
- NP_002107.3 HLA class I histocompatibility antigen, A alpha chain A*03:01:0:01 precursor: "Transcript Variant: This variant (1) represents the A*03:01:0:01 allele of the HLA-A gene, as found in the primary assembly of the reference genome."
Gene ID: 3106 is HLA-B major histocompatibility complex, class I, B, on 6p21.33: "HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described."
- NP_005505.2 major histocompatibility complex, class I, B precursor.
Gene ID: 3107 is HLA-C major histocompatibility complex, class I, C, on 6p21.33: "HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described."
- NP_001229971.1 HLA class I histocompatibility antigen, C alpha chain precursor: "Transcript Variant: This variant (2) represents the C*07:01:01:01 allele of the HLA-C gene, as represented in the alternate locus group ALT_REF_LOCI_2 of the reference genome."
- NP_002108.4 HLA class I histocompatibility antigen, C alpha chain precursor: "Transcript Variant: This variant (1) represents the C*07:02:01 allele of the HLA-C gene, as represented in the assembled chromosome 6  in the primary assembly of the reference genome."
Gene ID: 3133 is HLA-E major histocompatibility complex, class I, E, on 6p22.1: "HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail."
- NP_005507.3  HLA class I histocompatibility antigen, alpha chain E precursor.
Gene ID: 3134 is HLA-F major histocompatibility complex, class I, F, on 6p22.1: "This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain."
- NP_001091948.1 HLA class I histocompatibility antigen, alpha chain F isoform 3 precursor: "Transcript Variant: This variant (3) lacks an alternate in-frame coding exon and uses an alternate 3' exon, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1."
- NP_001091949.1 HLA class I histocompatibility antigen, alpha chain F isoform 1 precursor: "Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1)."
- NP_061823.2 HLA class I histocompatibility antigen, alpha chain F isoform 2 precursor: "Transcript Variant: This variant (2) uses an alternate 3' exon, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1."
Gene ID: 3135 is HLA-G major histocompatibility complex, class I, G, on 6p22.1: "HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail."
- NP_001350496.1 HLA class I histocompatibility antigen, alpha chain G isoform 1 precursor: "Transcript Variant: This variant (1) encodes the longer isoform (1)."
- NP_002118.1 HLA class I histocompatibility antigen, alpha chain G isoform 2 precursor: "Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1."
Gene ID: 3140 is MR1 major histocompatibility complex, class I-related on 1q25.3: "MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that presents metabolites of microbial vitamin B to MAITs. This presentation may activate the MAITs to regulate the amounts of specific types of bacteria in the gut. Several transcript variants encoding different isoforms have been found for this gene, and a pseudogene of it has been detected about 36 kbp upstream on the same chromosome."
- NP_001181928.1 major histocompatibility complex class I-related gene protein isoform 2 precursor: "Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1." Conserved Domains (2) summary: cd07698 Location: 157  249 IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain.
- NP_001181929.1 major histocompatibility complex class I-related gene protein isoform 3 precursor: "Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1."
- NP_001181964.1 major histocompatibility complex class I-related gene protein isoform 4 precursor: "Transcript Variant: This variant (4) lacks two consecutive in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1."
- NP_001297142.1 major histocompatibility complex class I-related gene protein isoform 5: "Transcript Variant: This variant (5) contains an alternate exon in the 5' end and lacks an alternate in-frame exon compared to variant 1, which results in translation initiation at a downstream start codon compared to variant 1. The encoded isoform (5) is shorter at the N-terminus and lacks an internal segment compared to isoform 1."
- NP_001522.1 major histocompatibility complex class I-related gene protein isoform 1 precursor: "Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1)." Conserved Domains (2) summary: cd07698 Location: 202  294 IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain.
- XP_011507765.1 major histocompatibility complex class I-related gene protein isoform X2, Conserved Domains (2) summary: cd07698 Location: 115  207 IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain.
- XP_024302379.1 major histocompatibility complex class I-related gene protein isoform X1, Conserved Domains (2) summary: cl11960 Location: 202  265 Ig; Immunoglobulin domain.
Gene ID: 4277 is MICB MHC class I polypeptide-related sequence B on 6p21.33: "This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants."
- NP_001276089.1 MHC class I polypeptide-related sequence B isoform 2: "Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1."
- NP_001276090.1 MHC class I polypeptide-related sequence B isoform 3: "Transcript Variant: This variant (3) contains an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isofom 1."
- NP_005922.2 MHC class I polypeptide-related sequence B isoform 1 precursor: "Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1)."
Gene ID: 6992 is PPP1R11 protein phosphatase 1 regulatory inhibitor subunit 11 on 6p22.1: "This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6."
Gene ID: 7726 is TRIM26 tripartite motif containing 26 on 6p22.1: "The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene."
- NP_001229712.1 tripartite motif-containing protein 26: "Transcript Variant: This variant (2) lacks an internal exon in the 5' UTR, compared to variant 1."
- NP_003440.1 tripartite motif-containing protein 26: "Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein."
Gene ID: 10107 is TRIM10 tripartite motif containing 10 on 6p22.1: "The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms."
- NP_006769.2 tripartite motif-containing protein 10 isoform 1: "Transcript Variant: This variant (1) encodes isoform 1, which has a distinct C-terminus and is 86 aa longer than isoform 2."
- NP_439893.2 tripartite motif-containing protein 10 isoform 2: "Transcript Variant: This variant (2) uses an alternate splice site that results in the introduction of a 539 nt intron between a 3' penultimate and 3' terminal exon, compared to the 3' terminal exon of variant 1. This results in a frameshift and introduction of a novel stop codon. Isoform 2 has a distinct C-terminus and is 86 aa shorter than isoform 1."
Gene ID: 10384 is BTN3A3 butyrophilin subfamily 3 member A3 on 6p22.2: "The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 )."
- NP_001229732.1 butyrophilin subfamily 3 member A3 isoform c: "Transcript Variant: This variant (3) lacks several exons in two regions, but the open reading frame is retained, compared to variant 1. The encoded isoform (c) has a shorter N-terminus and lacks an internal segment, compared to isoform a."
- NP_008925.1 butyrophilin subfamily 3 member A3 isoform a precursor: "Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a)."
- NP_932078.2 butyrophilin subfamily 3 member A3 isoform b: "Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream translational start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a."
Gene ID: 10385 is BTN2A2 butyrophilin subfamily 2 member A2 on 6p22.2: "Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene."
- NP_001184166.1 butyrophilin subfamily 2 member A2 isoform a precursor: "Transcript Variant: This variant (3) has an alternate 5' UTR exon and encodes the same longest isoform (a) compared to variant 1."
- NP_001184167.1 butyrophilin subfamily 2 member A2 isoform c precursor: "Transcript Variant: This variant (4) lacks an alternate segment in the 3' region compared to variant 1, resulting in a shorter isoform (c) with distinct C-terminus, compared to isoform a."
- NP_001184168.1 butyrophilin subfamily 2 member A2 isoform d precursor: "Transcript Variant: This variant (5) lacks two consecutive in-frame exons in the 5' region compared to variant 1, resulting in a shorter protein (isoform d), compared to isoform a."
- NP_001184169.1 butyrophilin subfamily 2 member A2 isoform e precursor: "Transcript Variant: This variant (6) lacks an in-frame exon in the 5' region and has an additional segment in the 3' region, compared to variant 1. The resulting isoform (b) lacks an internal segment and has a shorter and distinct C-terminus, compared to isoform a."
- NP_008926.2 butyrophilin subfamily 2 member A2 isoform a precursor: "Transcript Variant: This variant (1) and variant 3 encode the longest isoform (a)."
- NP_853509.1 butyrophilin subfamily 2 member A2 isoform b precursor: "Transcript Variant: This variant (2) lacks an in-frame exon in the 5' region compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a."
Gene ID: 11118 is BTN3A2 butyrophilin subfamily 3 member A2 on 6p22.2: "This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene."
- NP_001184175.1 butyrophilin subfamily 3 member A2 isoform a precursor: "Transcript Variant: This variant (2) has a shorter 5' UTR and uses an alternate splice site in the 3' UTR, compared to variant 1. Variants 1-3 encode the same isoform (a)."
- NP_001184176.1 butyrophilin subfamily 3 member A2 isoform a precursor: "Transcript Variant: This variant (3) differs in both UTRs, compared to variant 1. Variants 1-3 encode the same isoform (a)."
- NP_001184177.1 butyrophilin subfamily 3 member A2 isoform b: "Transcript Variant: This variant (4) lacks two consecutive exons in the 5' region, and initiates translation at an alternate start codon, compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus, compared to isoform a."
- NP_001184178.1 butyrophilin subfamily 3 member A2 isoform c: "Transcript Variant: This variant (5) lacks an exon in the 5' region, and uses a downstream in-frame start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a."
- NP_008978.2 butyrophilin subfamily 3 member A2 isoform a precursor: "Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-3 encode the same isoform."
Gene ID: 11119 is BTN3A1 butyrophilin subfamily 3 member A1 on 6p22.2: "The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 )."
- NP_001138480.1 butyrophilin subfamily 3 member A1 isoform c precursor: "Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a."
- NP_001138481.1 butyrophilin subfamily 3 member A1 isoform d precursor: "Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 1. The resulting isoform (d) has a distinct C-terminus and is shorter than isoform a."
- NP_008979.3 butyrophilin subfamily 3 member A1 isoform a precursor: "Transcript Variant: This variant (1) encodes the longest isoform (a)."
- NP_919423.1 butyrophilin subfamily 3 member A1 isoform b precursor: "Transcript Variant: This variant (2) differs in the 5' and 3' UTRs, and uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a."
Gene ID: 11120 is BTN2A1 butyrophilin subfamily 2 member A1 on 6p22.2: "This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene."
- NP_001184162.1 butyrophilin subfamily 2 member A1 isoform 3: "Transcript Variant: This variant (3) lacks an exon in the 5' region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1."
- NP_001184163.1 butyrophilin subfamily 2 member A1 isoform 4 precursor: "Transcript Variant: This variant (4) uses an alternate 3'-terminal exon, compared to variant 1. The encoded isoform (4) is shorter and has a unique C-terminus, compared to isoform 1."
- NP_008980.1 butyrophilin subfamily 2 member A1 isoform 1 precursor: "Transcript Variant: This variant (1) encodes the longest isoform (1)."
- NP_510961.1 butyrophilin subfamily 2 member A1 isoform 2 precursor: "Transcript Variant: This variant (2) This variant (2) uses an alternate splice site on the 3'-most exon, compared to variant 1. The encoded isoform (2) is shorter and has a unique C-terminus compared to isoform 1."
Gene ID: 79692 is ZNF322 zinc finger protein 322 on 6p22.2: "ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 )."
- NP_001229726.1 zinc finger protein 322: "Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same protein."
- NP_001229727.1 zinc finger protein 322: "Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein."
- NP_001229728.1 zinc finger protein 322: "Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein."
- NP_078915.2 zinc finger protein 322: "Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein."
Gene ID: 222698 is NKAPL NFKB activating protein like on 6p22.1.
Gene ID: 282890 is ZNF311 zinc finger protein 311 on 6p22.1.
- NP_001010877.2 zinc finger protein 311 isoform a .
- NP_001305463.1 zinc finger protein 311 isoform b .
- NP_001305464.1 zinc finger protein 311 isoform b .
- NP_001337565.1 zinc finger protein 311 isoform b .
- NP_001337566.1 zinc finger protein 311 isoform c .
Gene ID: 353219 is KAAG1 kidney associated antigen 1 on 6p22.1.
Gene ID: 100507436 is MICA MHC class I polypeptide-related sequence A on 6p21.33: "This gene encodes the highly polymorphic major histocompatability complex class I chain-related protein A. The protein product is expressed on the cell surface, although unlike canonical class I molecules it does not seem to associate with beta-2-microglobulin. It is a ligand for the NKG2-D type II integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants."
- NP_000238.1 MHC class I polypeptide-related sequence A isoform 1 (MICA*001) precursor: "Transcript Variant: This variant (1*001, also known as 1) is derived from the MICA*001 allele. It encodes the longest isoform (1). The MICA*001 allele is found in the c6_QBL (ALT_REF_LOCI_6) alternate assembly."
- NP_001170990.1 MHC class I polypeptide-related sequence A isoform 2 (MICA*00801) precursor: "Transcript Variant: This variant (1*00801, also known as 1) is derived from the MICA*00801 allele. It contains a 4 nt insertion (rs9279200) that results in a frameshift and truncation of the CDS, compared to variant 1 (allele MICA*001). The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. The MICA*00801 allele is found in the primary, ALT_REF_LOCI_2 and ALT_REF_LOCI_7 assembly units of the GRCh38 reference genome sequence."
- NP_001276081.1 MHC class I polypeptide-related sequence A isoform 3 (MICA*00801): "Transcript Variant: This variant (3) contains an alternate 5' exon and it thus differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream in-frame start codon, compared to variant 1 (MICA*00801 allele). The encoded isoform (3) is shorter at the N-terminus, compared to isoform 2. This RefSeq represents the MICA*00801 allelic form of variant 3; the MICA*00801 allele is found in the primary, ALT_REF_LOCI_2 and ALT_REF_LOCI_7 assembly units of the GRCh38 reference genome sequence. Both variants 2 and 3 encode the same isoform."
- NP_001276082.1 MHC class I polypeptide-related sequence A isoform 3 (MICA*00801): "Transcript Variant: This variant (2) contains an alternate 5' exon and it thus differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream in-frame start codon, compared to variant 1 (MICA*00801 allele). The encoded isoform (3) is shorter at the N-terminus, compared to isoform 2. This RefSeq represents the MICA*00801 allelic form of variant 2; the MICA*00801 allele is found in the primary, ALT_REF_LOCI_2 and ALT_REF_LOCI_7 assembly units of the GRCh38 reference genome sequence. Both variants 2 and 3 encode the same isoform."
- NP_001276083.1 MHC class I polypeptide-related sequence A isoform 4 (MICA*00801): "Transcript Variant: This variant (4) contains an alternate 5' exon and uses an alternate splice site in an internal exon, and it thus differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from an alternate start codon, compared to variant 1 (MICA*00801 allele). The encoded isoform (4) has a distinct and shorter N-terminus, compared to isoform 2. This RefSeq represents the MICA*00801 allelic form of variant 4; the MICA*00801 allele is found in the primary, ALT_REF_LOCI_2 and ALT_REF_LOCI_7 assembly units of the GRCh38 reference genome sequence."