Analysis of the Gene-Dense Major Histocompatibility Complex Class III Region and Its Comparison to Mouse

Table 3.

Evolutionary Conservation of Genes in the MHC Class III Region


Name (HUGO)

Human ESTs

Mouse ESTs

PIP

FC

Function (total average PIP = 83.1)
Similarity found only to mouse/rat or other mammals, 16 genes, average PIP = 70.7
NFKBIL1 >100 30 86.4 T Inhibitor of Rel family transcription factors?
LST1 30 43 48.5 U* Unknown, Leukocyte-specific transcript 1
NCR3 6 0 I Natural Killer (NK) Receptor
APOM 80 74 80.5 U Apolipoprotein M. Unknown, Trmb domain, Lipid transport?
C6orf47 10 0 75.5 U Unknown, 2—3 Trmb domains
L Y6G5B 9 2 58.2 U* Ly6 family member
LY6G5C 9 0 67.3 U* Ly6 family member
G6F 1 2 65.4 U* Immunoglobulin gene superfamily member
LY6G6E 0 13 U* Ly6 family member
LY6G6D 2 9 60.3 U* Ly6 family member
LY6G6C 3 9 84.1 U* Ly6 family member
C6orf25 3 9 57.9 U* Immunoglobulin gene superfamily member
C6orf26 0 4 58.7 U Unknown
CYP21A2 14 2 O Cytochrome P450 steroid 21 hydroxylase
CREBL1 >100 >100 88.1 T cAMP response element binding protein motif, BRLZ and BZIP motif
C6orf9 35 39 88.1 U* Unknown, Proline rich, GoLoco motif (Gα/β motif). G protein signaling?
Similarity found to fugu fish, 4 genes, average PIP = 80.0
LTA 6 5 72.2 I Cytokine; role in lymphoid organ development and germinal center formation
TNF 12 41 78.8 I Cytokine; antitumour activity; roles in inflammation of immunomodulation
LTB 38 42 79.3 I Cytokine; anchors LTA to cell membrane
BAT2 >100 >100 89.7 U Unknown
Similarity found to worm and insects 20 genes, average PIP = 85.1
BAT3 >100 >100 92.1 U Unknown. 2—3 Tmb domains, Ubiquitin motif, CAP motif
BAT4 71 81 78.5 U Unknown. ANK repeat, G patch motif
BAT5 >100 >100 96.1 U Unknown. Signal peptide, Trm domain, α-β hydrolase motif
CLIC1 >100 >100 98.3 T Nuclear chloride ion channel protein? Regulation of cell cycle?
C6orf27 3 0 78.7 U Unknown. Von Willebrand factor type A domain
C6orf48 >100 66 U encode two snRNA genes
C6orf46 1 33 90.6 U 4 Zn finger, Broad Complex Tramtrack and Bric Brac (BTB) protein—protein interaction motif
C2 >100 >100 75.0 I Complement classical pathway serine protease
BF >100 >100 83.6 I Complement classical pathway serine protease
RDBP >100 >100 90.5 T Subunit of NELF (negative elongation factor). Inhibits transcription elongation
STK19 57 62 83.8 O* Serine threonine kinase 19
C4 >100 >100 76.3 I Complement classical pathway thioester containing protein
TNXB 75 71 69.2 O Extracellular matrix protein. Connective-tissue structure/function? Development blood vessels?
FKBPL 47 52 73.4 U Unknown. FK506-binding protein like. Immunophilin like, 3 TRR repeats
C6orf31 9 32 97.4 U Unknown. Signal peptide, 2-3 Trmb domain, Proline rich
EGFL8 37 13 79.9 U* Unknown. Signal peptide, Trmb domain, 2EGF motifs
RNF5 >100 93 97.8 U Ubiquitin Ligase E3, Ring finger. Trmb domain
AGER 36 13 78.2 T* Receptor for advanced glycosylation end products of proteins
PBX2 71 69 97.9 T Homeobox domain; transcriptional regulation
NOTCH4 11 89 80.2 T* Cell differentiation; Cell proliferation? Regulation of cell fate determination? Morphogenesis?
Similarity found to yeast, fungi 11 genes, average PIP = 89.2
BAT1 >100 >100 99.3 T 56kD U2AF56 associated protein UAP56. Essential splicing factor. DEAD-box domain
ATP6VIG2 11 89 94.9 O Vacuolar ATPase G synthetase subunit
AIF1 >100 43 88.4 U* Allograft inflammatory factor; macrophage activation?, EF hand, Ca2+ binding motif
CSNK2B >100 >100 100 T Casein kinase II β subunit; cell growth?
DDAH2 >100 >100 97.2 O NG-dimethylarginine dimethylamino hydrolase II
LSM2 85 92 72.5 T Like Sm protein 2. Binds specifically to the 3′-terminal U-track of U6 snRNA
NEU1 >100 >100 82.0 O* Sialidase enzyme
C6orf29 >100 >100 82.0 U hCTL4, Choline transporter-like 4
BAT8 >100 >100 81.2 U Histone Methyltransferase (HMTase) ANK repeats
DOM3Z 96 >100 89.7 U Unknown. Proliferation and viability in C. eleg. (similar to DOM3Z). 5.8S rRNA processing in yeast
PPT2 94 65 93.7 O* Thioesterase activity
Similarity found to bacteria, 7 genes, average PIP = 92.6
MSH5 73 22 88.7 T MutS homolog 5. Chromosome pairing in meiosis. Heterooligomer with MSH4
VARS2 >100 >100 91.7 O valyl tRNA synthetase
HSPA1L >100 >100 94.9 O* heat-shock protein, constitutive HSP70
HSPA1A >100 >100 95.2 O* heat-shock protein, chaperone in recovery of cells from stress
HSPA1B >100 >100 95.0 O* heat-shock protein, chaperone in recovery of cells from stress
SKIV2L >100 >100 92.9 T* RNA helicase
AGPAT1
>100
56
89.9
O*
Lysophosphatidic acid acyltransferase
  • The number in columns “human” and “mouse” show how many ESTs (dbEST_human and dbEST_mouse, version 5/18/2003 from NCBI) were found by BLASTN with scores >200 and alignments >100 bp. In “PIP” (percent identity of protein pairwise alignment) column, those numbers come from alignments of the same splicing forms between human and mouse: (—) pseudogene, so no PIP value is provided. Also, no PIP value was given for C6orf48, because it is an snRNA gene. The FC column shows four function categories: (I) known immune-related and inflammatory genes; (T) transcription/regulation/signaling related genes; (O) other known functional genes; and (U) genes of unknown function. For motifs: (UBQ) ubiquitin homolog; (ANK) ankyrin repeats; (G-patch) glycine-rich nucleic acid-binding domain; (VWF) Von Willebrand factor A domains; (BTB) Broad-Complex, Tramtrack and Bric a brac (BTB) protein—protein interaction motif, also known as POZ (poxvirus and Zinc finger) domain; (TPR) tetratricopeptide repeat; (BRLZ) basic region leucine zipper; (bZIP) basic leucine zipper.

  • * Genes of unknown function that are thought to have a potential role in the immune/inflammatory response

This Article

  1. Genome Res. 13: 2621-2636

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